Conversation with Carolyn Hax: Ask Me About Health, Genetics and Dealing with Diseases

Conversation with Carolyn Hax: Ask Me About Health, Genetics and Dealing with Diseases

Jonathan Coddington:
So, good evening, everybody. Welcome to the National Museum of Natural History and to
tonight’s program, jointly sponsored by the NIH — us, and Johnson & Johnson. My name’s
Jonathan Coddington. I’m the Associate Director for Science here at the Natural History Museum.
And just to give you a little bit of context, this institution, the National Museum of Natural
History, actually dates from the founding of the Smithsonian, about 1846. So, we’re
primarily a research institution, like NIH. It’s the largest natural history museum in
the world, and also the most visited, with about 8 million visitors. This is actually
the capstone event to our genome exhibit, which just closed last month and is now opening
in San Diego. So, about 3.8 million people saw that. And the reason we’re joined at the
hip here is really because of our interest in formal science learning and getting the
word out about the genomics revolution, both at the level of human health and, for us,
the genome of the rest of the animals on earth. So, that’s what we do. And I’ll turn the program
over to Seema Kumar, who is from Johnson & Johnson, and she’ll do the rest of the introductions.
Thank you. Seema Kumar:
Good evening, everybody. I’m Seema Kumar. I am Vice President for Innovation, Global
Health, and Public Policy Communications at Johnson & Johnson. And it’s such a pleasure
to welcome you all to this very special evening and to this closing ceremony of this wonderful
exhibit that has been around here at this museum for about a year now, co-sponsored
— actually, put together by the NIH, the National Human Genome Research Institute,
and the Smithsonian Museum of Natural History. We, Johnson & Johnson — just a couple of
words about Johnson & Johnson. We’re a broadly-based healthcare company that does a variety of
different types of work that impacts the health of human beings all over the world. We are
in pharmaceuticals, medical devices, diagnostics, as well as consumer healthcare. And most people
know us as a baby powder and Band-Aids company. [laughter] But we are actually much, much more than that.
We are that, of course, but we’re much more than that. We’re a scientific powerhouse.
We believe in the power of genomics to actually impact human health in a variety of different
ways. And so, it was really a pleasure to be a sponsor of this exhibit, and also sponsor
of today’s events. We heard some really stimulating discussions all the way to public health priorities
today that we face with the outbreak of Ebola, and how genomics is helping trace, actually,
the origin of the outbreak. So, it’s been a wonderful day, a wonderful evening, and
we’re looking forward to actually our next event. And I just want to say on behalf of Johnson
& Johnson that we also believe in public education of science. We believe in inspiring and engaging
the public, as well as the next generation of researchers and young scientists into this
field. And so, it was an honor for us to actually be a sponsor of this. And with that, I turn
it over to Dr. Eric Green, who is the Director of NHGRI. Eric? [applause] Eric Green:
Thank you, Seema. Thank you, Jonathan. Let me add my own welcome to all of you to this
last component of this symposium that really is serving as a celebration of the 14-month
run of Genome Unlocking Life’s Code here at the museum. We bid farewell last month and
watched it find its way to San Diego, and several of us were at the opening of the exhibition
as the first stop of a four- to five-year tour out in San Diego on Saturday evening. This exhibition, this entire program, this
entire collaboration really represents very productive partnerships between a number of
groups. It includes the National Institutes of Health — in particular, the National Human
Genome Research Institute, which I have the pleasure of serving as the Director. The Smithsonian
Institution, in particular, the National Museum of Natural History. And three years ago, we
got together without really knowing each other, and, I think, have done a remarkable job in
putting together, not only an exhibition, but a series of events and a series of public
engagement activities that are really, I think, very much helping the public understand genomics. And it also includes the partners that we’ve
developed in terms of donors. Things like this just don’t happen unless we are able
to convince the private sector, such as Johnson & Johnson and other — and as well as a number
of private citizens who are willing to help support such an endeavor. And working our
good friends at the foundation for NIH, who raise the money on our side of the equation
to make this a reality. We’ve seen great things happen — numbers of programs all year long
while the exhibit was here, and this is the final in this series of programs. So, needless
to say, we’re immensely proud at the accomplishments so far, and the millions and millions of people
that wondered through the exhibit and learned a lot about genomics, and the number of people
that came and really saw it and said wonderful things about it. And we had a great day today. We learned a
little bit about some ideas around genomic medicine and applications of genomics to medical
care, especially looking towards the future in thinking about some of the aspects of genomics
as it pertains to global health. And then, this final panel, which I’m about to turn
you over to, really is also going to continue this conversation of what the public is thinking
about genomics, and how it really is touching people’s lives. And it includes — and I’m
not going to introduce the people — a member of our own institute. And then [unintelligible].
It also includes a very good friend of ours — of the Institute for many years, probably
even decades, Dave Valle. But I want to give a special thanks, even
before she’s introduced formally, to Carolyn Hax, who comes here at our invitation to share
with us her thoughts and some of her stories. And it was very, very gracious of her to spend
some time participating in this symposium. So, I’m going to let the longer introduction
be given by the moderator of tonight’s sessions, Rebecca Roberts, who I now get to introduce. And Rebecca is a Program Coordinator for Smithsonian
Associates, another partner in these programs that we’ve been putting on, where she produces
public programs on subjects as varied as ice cream scoops, pirates, and particle physics
— and now, tonight, genomics. And for the past year, she and her colleagues at the Smithsonian
Associates have been collaborating with our institute, and also the National Museum of
Natural History to create a whole series of these innovative programming all around and
meant to compliment the genomics exhibition. But before joining the Smithsonian, she was
an award-winning science and technology journalist — and I’m just reading what my staff told
me. She traveled the world to interview transgenic goats, and hiking through Icelandic geysers
in high heels. [laughter] So, I didn’t make this up. It’s what here,
and I’m simply conveying that to you. [laughter] But here in Washington, her hometown, she
serves as a substitute host for public radio programs like Morning Edition, Talk of the
Nation, and the Kojo Nnamdi Show. So, I will turn this over to Rebecca. Also thank her
for moderating this evening’s session. And she will introduce the other members of the
panel a bit more formally. Thank you very much. It’s really great that you’re here. [applause] Rebecca Roberts:
Thank you all for having us here tonight. It is totally true about the goats — [laughter] — and about the high heels on the geyser.
Before we go any further, let me just remind you: please silence your cell phones. You
don’t want to be that person. I was at a program recently where a guy’s phone rang and his
ringtone was the Chicken Dance. [laughter] So, especially if you have something embarrassing
like that going on, please turn them off now. Let me introduce our panel starting from stage
right. Dr. Barbara Biesecker is the Director of the Johns Hopkins University, National
Human Genome Institute Genetic Counseling Program, and Adjunct Associate Professor in
Health, Behavior, and Society at the Johns Hopkins Bloomberg School of Public Health.
As well, Dr. Biesecker is an Associate Investigator in the Social and Behavioral Research Branch
of the National Human Genome Research Institute, and head of the Genetic Services Unit. And
I’m afraid that’s all the time we have this evening. [laughter] Barbara Biesecker:
We get to make up our own titles — Rebecca Roberts:
Dr. Biesecker, welcome. Thank you for being here. And in the middle here is Dr. David
Valle. He is the Henry J. Knott professor and Director of the McKusick-Nathans Institute
of Genetic Medicine at the Johns Hopkins University School of Medicine. He’s also professor of
Pediatrics, Ophthalmology, and Molecular Biology and Genetics. Dr. Valle is also the Founding
Director of the Johns Hopkins Center for Inherited Disease Research. David Valle, welcome to
the panel. David Valle:
Thank you. Rebecca Roberts:
And with a much easier title, Carolyn Hax is a writer and columnist for the Washington
Post, and author of the advice column, “Carolyn Hax.” The column debuted in 1997. It’s now
syndicated on more than 200 newspapers. Carolyn Hax once described her column as “intended
from the start to be the kind of advice you’d get from a friend, if that friend were relatively
stable, and brutally honest, and had possibly gotten up on the wrong side of the bed that
year.” [laughter] Welcome. Thank you so much for being here. So, let me just say that this panel grew out
of the experience of having the exhibit up in this museum for 14 months. And I hope you
all did have the chance to see it before it went to San Diego. Just from a visitor experience
viewpoint, I was really impressed with that exhibit, because when you’re doing a whole
human genome exhibit, what do you show, right? It’s like, “Well, let’s have a model of
the double helix and then, you know — I’m out. I’m done.” [laughter] But that exhibit was incredibly smart about
rooting genomic research in the human story. And so, there was that great computer panel,
where you could sort of choose a hypothetical family, who was facing a hypothetical dilemma,
and see what happened when they made their hypothetical choices. And that really brought
some of the stories to life. But what kept happening was people were saying, “Yeah,
but what about in my family? My family is slightly different. What if this happened?”
And bringing their own family histories and their own priorities to the hypotheticals
that were in the exhibit. So, that’s what tonight is about. Tonight is the chance to
talk about, “What about my situation?” And when you all reserved tonight, you were
given the chance to submit questions. We have lots, which we are eager to start with. But
there are also going to be volunteering trolling the aisles — yes? — with index cards. And
so, if you have questions you would like added to the forum, we will get to as many of those
as we can. Just write them down on an index card, and one of the volunteers will bring
them up on stage to us. So, let’s get started. This is a question that was submitted by one
of you. And I’ll just read the question, then we’ll sort of get everyone’s reaction to it.
“Discuss the difference between testing for a definitive result for untreatable diseases
such as Huntington’s and the increase risk odds for treatable diseases such a breast
cancer.” So, I think there’s two parts here: the treatable/untreatable part, but also the
definitive result versus increased risk. Barbara, you want to star that one? Barbara Biesecker:
Sure. So, when people come and talk to us about genetic risk or the option for genetic
testing, they come usually based on their family history, or something that’s been brought
to their attention that suggests that they’re at increased risk. And when we think about
common disease, like cardiovascular risk or cancer risk, the testing that we can offer
if it’s indicated can help us estimate the likelihood that they might develop that cancer
in the future, and then talk about prevention and treatment options that may be available
to them. And that’s very different than the definitive test that is in the question about
whether or not you carry a single mutation for a disorder like Huntington’s, which, if
you live long enough, will inevitably declare itself. And so, there’s no living at risk.
You either inherited the mutation or you didn’t. So, that’s one of a choice that’s much more
about personal values and beliefs — whether you want to know; whether it’s useful to you
to know whether or not you inherited a gene mutation you’re at risk for. And one might
argue that the risk estimate that you learn for cardiovascular risk or cancer risk is,
in many ways, medical information because it can adjust your treatment and at least
your screening activities that might result in early detection. And so, those are very
different kinds of pieces of information. And we might be more likely to persuade people
if they’re at increased risk to use testing if it’s going to help with screening, whereas
in Huntington’s, we would all, I think, most of us agree that that’s a very personal choice,
and we would want to make people make a good decision for themselves. Rebecca Roberts:
Carolyn, in terms of the screening might make you change your life a little bit if you’re
at risk for something, but it also might be information you don’t want? Carolyn Hax:
It depends very much on your knowledge of yourself. And it’s asking a lot of people,
to be able to say, “Okay, I can predict how I will react to this information. But
I think people — over the years, I’ve — there are two kinds of people. There are the people who — it’s funny. When
we end up talking about infidelity, of all things, and “I just saw somebody. I just
witnessed something. Do I tell?” And there are — just over and over again in these situations,
there are the people who are just absolutely rabid. Tell. They should know. They need that
information. And there are some people like, “Oh, gosh. Don’t go in and blow up their
lives.” That’s the schism we’re talking about here. You know, this camp gets tested.
This camp should not. And the only — to me, the thing to identify is which — do you know
which camp you’re in? Are you confident in that? Can you — because I just think — and
I think you have to know — be pretty confident in that before you make your decision. Rebecca Roberts:
And David, I think the added question here about the increased risk question, which sometimes
you need to kind of know your statistics in order to — David Valle:
Right. Rebecca Roberts:
-understand what those tests actually mean. David Valle:
Well, I think one thing that’s implicit in this question that
I would just state is that, as genetics and
genomics expands, we will see a genetic component in all disease. And so, this scenario that
we’ve laid out — what do we — how do we counsel people who are at risk for a specific
disorder in a very black and white situation — either they have it or they don’t — versus
a group of people who may, because of certain genetic variants, be at increased risk — some
modest increased risk. That will be going on over and over again, not just when you
go see your friendly geneticist, but as medicine advances, it will be part of going to see
the doctor or even before you go to see the doctor. I think helping people understand risk, to
get back to your specific question, is challenging. Because I think people incorporate into their
understanding of risk, not only the number, but also the burden of the question involved.
And I think probably we have all had families where you say, “You know, your recurrence
risk is very small — let’s say less than 1 percent.” And they may say, “I don’t
care how little. I don’t care if it’s one in a million. I don’t — I cannot bear to
go through again.” Let’s say if it’s a parent who has had a child. So, we all perceive risks
differently. I think it’s the duty of the geneticist or the physician to help people
understand the risk as accurately and as completely as possible. And then, we also need to — in
the case of being at risk, we need to give them information — consistent information,
clear information about what are they’re option of dealing with that risk, minimizing that
risk, and increasing their odds for staying at a state of good health. Rebecca Roberts:
Well, let’s put this in a specific instance, because there is a question here: “What
is some advice you can share about deciding whether to and when to get tested for the
BRCA1 or BRCA2 gene and what to do with the resulting information?” So, staying with
you, David, for a second. First of all, where does that test fall on definitive answer versus
increased risk? David Valle:
In the middle. [laughter] I think I would also, just parenthetically,
say one of the exciting things about being in medicine and genetics at the current time
is that our field is changing very, very rapidly. And so, just in the last few years, I think
we’ve seen different ideas about how testing for breast cancer has evolved. And so, the
sort of, I think, state of the art right now, is to test those individuals who, by virtue
of their family history, are perceived to be at somewhat higher risk. But we are now
seeing other people begin to advocate because the test — our ability to interpret the test
and because we understand the — our knowledge has increased. We’re beginning to be at a
situation where we can begin to contemplate applying that test across the entire population
that at, let’s say, age 30. Now, the answer whether if you have a variant
that we can interpret as being one of high-risk, it still isn’t 100 percent. And there are
things that one can do with that information to bring your risk — to avoid, let’s say,
the serious consequences of that. So, it’s a very exciting time. Things are changing.
I must say that I personally am attracted to the idea, as we have learned more, to really
contemplating moving this to a population-wide test. Rebecca Roberts:
So, it would be routine, like a mammogram. David Valle:
Right. And so that — because right now, what we are doing is we’re identifying those families
— those individuals that are at risk by picking those people whose relatives have had cancer.
And we should get to a stage where we don’t — that’s not the entry point. The entry point
is, we have this test. We know what it means. We can give you information about that and
we know what to do about it. Carolyn Hax:
So I guess, in part, one of the things you would want to know when you’re making this
decision is — you’re talking about the percentage of calculating risk. But you also want to
know the percentage of the effectiveness of the measures you take to prevent. David Valle:
Absolutely. Carolyn Hax:
I mean, and so, that seems to be — I mean, that, to me, is more of an X factor even than
the likelihood of getting the illnesses. Okay. Because I can’t do anything about — I want
to know what I can control. And if you can give me something high percentage to control,
I’m going to be much more motivated to get tested — David Valle:
[affirmative] Carolyn Hax:
— even if I’ve got no family history. Barbara Biesecker:
Well, there’s a good contrast in BRCA1 and BRCA2 testing. So, these are two very common
mutations for hereditary breast and ovarian cancer. And the screening is much better for
breast cancer than it is for ovarian cancer. So, we can still screen for ovarian cancer,
and there’s certainly surgeries that can be used to prevent or minimize the chance of
getting ovarian cancer. But people feel differently even about the things that you can do about
both of those two cancers that are coincide with the same gene mutations. Rebecca Roberts:
Well, this — if we’re talking about, say, that test becoming something that you do after
age whatever, and it’s a common test, regardless of family history, that leads into a more
general question, which also comes from the audience: “How much testing should one get
if there’s no family history of genetic disease?” I mean, if our genetic information is getting
better and better and if it’s just like doing a, you know, throat culture for strep, how
much should you — how much information do you actually want to know? Barbara Biesecker:
Well, that sort of goes back to Carolyn’s point earlier, which is we’re all very different
in what information we want to know. And for people who go to their physicians, if the
physicians are familiar with new genetic testing, maybe the onset of genome sequencing, they
may have strong opinions about whether people with no history should avail themselves of
these new tests where they can learn, potentially, of variance and mutations that we understand
pretty well but we wouldn’t know to look for because there was no family history. We don’t
really have an immediate precedent for that. I think there’d have to be a lot of thought
put into who would be available to counsel the people who find out they’re at increased
risk. These are not people who grew up in a family thinking that this was going to happen
to them. And some of the risk can be fairly startling, if you look at the hereditary cardiovascular
disease mutations, where people are at increased risk for sudden death. That’s a pretty dramatic
piece of information to take on. Rebecca Roberts:
But think about it. We don’t have counselors helping us process our mortality. I mean,
we’re all [laughs] we’re all looking at this one. And we’ve all had to process certain
death. And so, what you’re talking really is about putting a finer point on it. And
so, you know, it’s — again, it’s how fine is this point going to be? At the moment,
it’s varied. You know, for some illnesses, it’s a very fine point. We can give you certainty.
And with some of them, it’s we can give you percentages. And again, you know, if you’re
going to make me eat more broccoli, I want to know it’s going to do something. [laughter] You know? And so, again — David Valle:
It will, it will. Rebecca Roberts:
These are all fine shadings of processing what could happen. Barbara Biesecker:
Yeah. Rebecca Roberts:
And it’s really — I mean, to me, it’s how do you live with the weight of knowledge,
and how good is your prevention information for me? David Valle:
[affirmative] Carolyn Hax:
I think that’s wonderful, because what you’re doing is predicting the future. I’m sort of
talking about, you know, moving into that. And that’s going to be sort of a graduation
of now, this being a sort of public consumer endeavor, where you go to your physician and
this is part of medical care. And we get used to getting this information. And it’s routine.
And we don’t specialize. And we don’t see a counselor about it. I think you’re predicting
exactly what’s going to happen. David Valle:
[affirmative] Carolyn Hax:
I’d like to see us transition to get there because I think it’s a little — it’s shifting
the paradigm quite a lot, and it takes people a while to kind of get used to that. But we’ve
got it. Barbara Biesecker:
Especially in — and we’re in a land of death hysteria. I mean, right? Americans don’t do
death very well. I mean, we just — we don’t talk about it well. We don’t process it well.
We certainly don’t plan for it well and medicate it well. So, maybe it’s going to — maybe
that future is coming in other societies. David Valle:
[affirmative] Barbara Biesecker:
And maybe we can peer in and say, “That makes sense.” David Valle:
Well, I would come back to the point that the field is changing — or medicine is changing
very, very rapidly. And so, what appears hopeless today maybe — may be more manageable five
years from now, let’s say, or 10 years from now. Or it may not. So, it’s — I think what
is going to be state of the art today, will not be state of the art practice a few years
from now. And I think we’re seeing that sort of transition in the breast cancer — breast
and ovarian cancer area right now. But there, of course, remain other disorders for which
we’re really not able to budge the needle at all. Rebecca Roberts:
And are you seeing a similar change, Barbara, in audience sophistication around these issues?
I mean, if you’re talking about sort of weaning people off of counseling around these results,
have you watched people get more knowledgeable and have a baseline understanding? Barbara Biesecker:
Oh, certainly. I mean, there’s huge differences now in what all the information people have
access to on the internet. And we live in a very privileged part of the United States.
So, people have a lot of access to information and come with very intelligent questions and
taking control over the choices that they may face based on their family history. Definitely.
I wouldn’t say it’s universal. David Valle:
We certainly see that in the clinic as well, that people come in. Some are extremely well-informed.
Others have worked hard at it, but still have misinformation. And others are still — pretty
much they want to hear from the healthcare professional what to do. Rebecca Roberts:
I can’t count on google? David Valle:
Pardon? Rebecca Roberts:
I can’t count on Google?? [laughter] David Valle:
Well, you can look. Rebecca Roberts:
Along the veins of sort of increased public awareness, of course, there’s been the Ice
Bucket Challenge has, you know, flooded Facebook lately. This question is, “With the overwhelming
awareness of ALS,” — actually, before I ask this question, let me ask you, Carolyn,
what was your reaction to the Ice Bucket Challenge, as someone who lived through watching your
mom with the illness? Carolyn Hax:
It was so — first of all, it was delightful. I mean, I also saw the origin story, which
was so not delightful. Seeing this young person afflicted was horrible. But it’s hard to describe
the experience of being in a community where you’re watching something terrible happen
and there’s nothing you can do about it. You’re completely powerless. And you know that the
research has made progress, but we’re still far from being — I mean, there’s really no
treatment even. It’s just a death sentence. And they send you home. And they try to keep
you comfortable. And the families — the patients are traumatized. The families are traumatized.
And, at the same time, we’re a very small community. So, we just can’t make enough noise to make
a difference. And so, this has been going to us year after year after year. We walk.
We cajole. We beg. And we just make almost no dent. And to see this thing just sort of
come out of nowhere and to see this, millions, just showering on your cause. I mean, it was
just — my sister — we have a family reunion on Cape Cod every year. And my older sister
was sitting on her computer, just playing the videos. And she said, “I can’t — I
can’t wrap my mind around this. I can’t stop watching these.” And she was — you know,
she was choked up. But so, it was just — I just wanted to go around and say thank you.
Like, “Thank you, everybody.” And, of course, that lasted about two weeks. And then,
all the naysayers came in. But I was just, you know, thank you for — thank you, too,
because it kept it going even longer. [laughter] But as I said, it was just a mind-blowing
experience, to take our little bit of hell, and to see just all this light and love coming
to it, was unbelievable. Rebecca Roberts:
The question specifically — and David, I think you’re the best person to start with
this — is, “How do you think that changed the desire for more scientists to apply more
clinical or translational research?” David Valle:
Well, it certainly, I think, raised the awareness in the research community. And there is — one
of the paradoxes that we live with right now is that research funding from NIH and the
sources that we typically got research funded by in the past, are having to tighten their
belts. And so, people are looking for other sources of funding. And so, to see people
so involved in this and so enthusiastic about getting people involved in the research was
very rewarding. And I’m sure people came into — will come into the field. And maybe somebody
will come in with a really good idea and good result. Rebecca Roberts:
This question — I’ll just read it. “What are some current disparities in genetic research?
Are advances being made more quickly within a certain subset of the human population due
to the population surveyed, specifically in terms of certain ethnic and cultural groups?” Barbara Biesecker:
Hard question. We certainly grapple with this a lot at NIH when we do studies. When we put
out outreach to groups in the area and put advertisements in the Washington Post, the
people who respond are largely well-educated, have resources, and are more often Caucasian,
in responding. And so, when we try to target specific populations of African Americans
or Hispanics, we have to go out into the community and do a much more involved, targeted job
to recruit people to our studies. Obviously, in rare disease and the patient
populations that come in to NIH, where disease does not discriminate. And so, we see much
more diverse populations come into the clinical center and partake of research. But it does
take some sophistication or your physician being sophisticated to find out about studies
at NIH, and to make your way there. And so, all of us grapple with this on a day to day
basis in the way that we provide care and who has access to it in the way we do research
and who answers our research surveys. And we have a long way to go. And I think the
thing that worries us probably, more than anything, is just the overall disparities
in how medical care is delivered in this country. And people who don’t have insurance don’t
receive the same care as people who do. Rebecca Roberts:
Well, here’s an insurance question. “Shouldn’t insurance,” — [speaking simultaneously]
which is — anyway. “Shouldn’t insurance companies pay for IVF and pre-implantation
genetic diagnosis services for women who are carriers of fatal X-linked disorders? They
pay for IVF for infertile women, so why not carriers of X-linked diseases?” David Valle:
Well, I agree with the questioner. Barbara Biesecker:
Me, too. [laughter] Rebecca Roberts:
Is there an insurance company underwriting any of this? [laughter] We have consensus. David Valle:
I mean, this is a — let me expand the question a little bit. Although we are being able to
do — we are currently able to do more and more sophisticated genetic testing, which
yields precise and — in many instances, yields precise and unambiguous diagnosis that allows
us to counsel families and to treat patients in a much more informed way. Getting those
tests paid for, it’s still a challenge. And people in the clinic — I mean, in a typical
working genetics clinic, part — a substantial part of the time is spent trying to get reimbursement
for those tests. And even though — and I’m way out of my depth here. I’m not an economist.
But even though it seems to me that one can argue that, over the long run, if you invest
up front and get good information, in the long run, it will reduce the cost of, let’s
say, insuring a particular patient or a particular family. Those arguments are still — we’re still having
to rehash those arguments day after day after day. And it would be, in my view, a great
move forward if we could get over this and do the testing that is medically indicated,
and not have trained people spending time trying to figure out whether the test is going
to be reimbursed or not. Rebecca Roberts:
So, now that you all are warmed up, I’m going to throw out what I think is a very tough
question, which is: “If you are predisposed to certain quality of life altering conditions,
would it be irresponsible to have children?” Carolyn Hax:
That depends. I mean, do you have the condition yourself or are you a carrier? Because if
you have it yourself, you’re in a strong position to decide if that is a — if you look at your
own life as worth living, given your health situation, then I don’t think it’s irresponsible
to have children. But if you, yourself, don’t have it, then you have to think — then you
have to project that question: “Is this a life that I would want to live? Is this
a life that people who have this condition want to live?” I mean, again, you’re trying to decide the
value of life. And I think any parent is doing that. I mean, when you decide to have children,
you are sort of — you’re conferring that — I don’t know. You’re playing God in a way.
You’re deciding whether this — you can be — you can provide a good life. And I just
think that’s — it’s the same question. It’s just more complicated and more fraught, and
probably one you don’t want to talk about in public, because you can have people take
great exception to the way you look at it. Barbara Biesecker:
I think that’s a really important point, is the personal part of that is to help people
make really good choices for themselves. But what’s hard about that question is that it
implies that, maybe we have a responsibility to society not to bring people who are affected
into this world. And I think we don’t have a lot of good, open conversations about that.
In the United States, we really value our autonomy and our ability to make decisions
for ourselves, very much the way, that Carolyn very nicely illustrated how we do it. And
we don’t talk outside of our own personal bubble much about what we’re doing. And I think this is going to be something
that we continue to need to talk about is: is society on a larger basis. I can’t imagine
imposing restrictions on people’s child-bearing decision. That just seems to me the most personal
and ultimate issue of controlling others. But I certainly do think redistribution of
resources and other social goods are something that I hope we get closer to in medicine as
a whole — maybe not — maybe preserving the privacy of child-bearing decisions. I don’t
know. It’s a hard question. David Valle:
I think it’s a — I agree. It’s a very difficult question. And it’s a — and it can be approached
at different levels. You can approach it at a societal level and think about resources
and so forth. Then, you can approach it at the individual level and how people see the
worth of their own lives. And, of course, it’s possible, I would think, to view that
your own life has a real worth and you’ve made lots of contributions, but you also decide
that, “I’d rather not have my child have to deal with this. I’d rather have them live
life without having this problem.” And so, from the point of view of a geneticist
in the clinic, I think our job is to inform people, as clearly and as accurately as we
can, so that they make those kinds of really major decisions with a — you know, with the
state of the art, sort of, knowledge set. And very often, that means going over things
more than one time and putting it in different terms — even having different people pitch
it so that the people who have to make the decision — that is, the parents or the — or
whatever — make it with state of the art information. Rebecca Roberts:
And there’s one angle I don’t think we talked about, which is also the parents. I mean,
we’re talking about the ability to project, and also society to absorb. But there’s also
— are you, as a parent, ready to take on — David Valle:
[affirmative]. Rebecca Roberts:
— being the parent of somebody who might have these enormous needs? And, of course,
we’re talking about all this and trying to calculate these decisions. And then, of course,
you can decide, “No, I won’t do it. I will adopt,” for example, “Get outside my gene
pool.” And then, you can take on something that’s — you can end up with something even
more complicated than the thing you were trying to avoid. So, it’s amazing. You really — I
mean, no matter how — we could talk this down to some sort of consensus — I’ll just
float that hypothetically, because it’s impossible. But even then, you’re still — there’s still
this leap that you just don’t know. Barbara Biesecker:
It occurs to me, too, we’ve done a couple of studies over the years of individuals affected
with several different kinds of chronic genetic conditions, and then their first-degree relatives’,
or their parents’ perspective. And parents and siblings rate the quality of life of their
affected family member differently than the person who is affected themselves — so, even
the people who live with it intimately. And at first, we always thought that the early
study trends were what we were going to see, which is that people who are affected with
the disease had higher ratings of their quality of life than their parents, because their
parents are all so very concerned and feel responsible for their kids. But it didn’t
pan out that way. In various conditions, we found various different ratings. And it became
more upsetting when we saw people who were affected, rating their quality of life as
lower than the people who love them and are close to them. And so, there’s a lot of things
we don’t understand about what goes into how we make those assessment. But they’re really
important for us to understand, just the way that you’ve illustrated. Rebecca Roberts:
And let me remind you all, there are people trolling the aisles with index cards. If you
have questions you would like to submit, wave a hand. In terms of handling some of these issues
that come up, “In what ways can a support group be good or bad for someone who has a
high-risk factor or family member with a disease?” Carolyn, let’s start with you on that one. Carolyn Hax:
Oh, I think it’s — you may have a high-risk health issue, but it’s a pretty low-risk venture
to try out a support group. Often they’re free, and they are filled with people who
probably have more experience just because you’re seeking now. Generally, the people
there have a base of knowledge about what you’re dealing with. And so, even if you’re
unhappy with it, you can talk to the, you know, the leader of it and get other information
to go somewhere else. I mean, it’s one of those things where it’s like, what’s the worst
that can happen? You know, you can have an accident on the way to the support group.
I mean, it’s — [laughter] I don’t know. But that’s — but I come to
it with a bias toward: try the therapeutic approach, and if it doesn’t work, I don’t
think you’ve lost anything. I mean, some people might run out of there feeling like their
hair is on fire, but that’s not my experience personally. So — Barbara Biesecker:
Yeah. So, we deal with this daily in genetic counseling. And I completely concur with Carolyn.
I think there’s — there isn’t a group for everyone. And sometimes you go, and it doesn’t
feel like people are talking about the issues that are foremost in your mind are of concern,
or you somehow don’t relate to the group. There are other groups. There are now online
ways to reach out to people who are otherwise isolated who might write blogs, who might
just make themselves available to have conversations with. And you don’t even have the messiness
of having to meet people personally, but you can share what you’ve learned about the condition,
or what you’ve learned in terms of coping. I just think the internet has just opened
this up so widely. We definitely do not see people feeling as isolated, even if they’re
physically isolated — geographically isolated — as we used to on a routine basis in the
early days of providing genetic services. I think it’s tremendous. And, I mean, it’s
funny. I lived in Ann Arbor, Michigan once, where they have three support groups for Down
syndrome. And that was because they all had very different goals and directions. And one
was for newborn parents. And one was for sort of school-aged parents. And one was for adult
parents, because they were all dealing with very different things. And they didn’t like
each other’s groups. [laughter] But it worked really well, because when you
kid got older, you went to the next one. David Valle:
I think that — I think there’s a lot to be learned from those support groups. And very
often, parents will say, “Well, you told us this, that, and the other, but what was
really bothering me was how to cook the pop tart the right way,” or some little practical
thing that people in the clinic — it doesn’t come on our radar screen, and it turns out
to be very useful information for the family. And so, I think that kind of information is
very useful. On the other hand, some people, you know, don’t — they find that they don’t
want to engage in support groups. They manage things in a different way. So, I always try
to tell people that these opportunities are out there. And increasingly, they already
know about it because of the internet. But I also make it clear, like, you’re not a bad
person if you don’t go join every support group for these things. So, it works for some
people and not for others. Rebecca Roberts:
And from the general to the specific, this question is, “How do I help my mother, who’s
dealing with her mother — my grandmother — having dementia? It’s heartbreaking all
around, and I don’t live close enough to help. I’ve recommended that she, my mother, get
therapy for herself, to no avail.” Want to take that one, Carolyn? Carolyn Hax:
Well, I should say, that’s a great argument for a support group. I mean, there are a lot
of people who don’t want to get therapy. It feels like it has a high barrier to entry,
although I would argue it doesn’t. But I think, to a lot of people, it feels insurmountable,
whereas the support group barrier to entry is quite low. And so, somebody from afar can
do the research and say, “Here, I’ve lined up respite care for you through this support
organization and, you know, you are going to — this is where you would go for this
meeting.” And, obviously, you can only point out where the water is to the horse. But it’s
something. Rebecca Roberts:
We’re getting some really terrific questions in here. This one, I really love. “Can we
open this up to the possibilities? What are the things you see 20 years from now that
are awesome?” [laughter] David, do you want to start with that one? Carolyn Hax:
Hovercraft. Rebecca Roberts:
Jet packs? David Valle:
Boy, I think — I mean, in case you can’t tell, I’m extremely enthusiastic about what
genetics is going to do for medicine. And so, I think the sky is the limit for 20
years. I wouldn’t put any limits on it. And I think there will be discoveries that we
can’t anticipate right now. And there are certainly things we can do in the lab right
now that, two year ago, we’d barely even thought of. This genomic engineering, where we can
create much more accurate models of disease to study in the laboratory, is something that’s
coming on like a tremendous wave and has great opportunities. So, there’s that sort of eureka
results that will come along. There will also be sort of the slow, steady
progress that is just going to take a lot of hard work and a lot of thought. And it’s
also going to take, I think, you know, where some of these problems — some of the things
we’ve discussed today are things like that they sound like there’s some potential pitfalls.
And so, one response to that is to say, “I can’t — I’m not going to do anything because
I’m afraid of the pitfalls.” And another response to it is to say, “Okay, I’m going
to learn as much as I can about this, and then I’m going to take my best shot at it.
And I may make some mistakes along the way. I may have to correct course periodically.”
But I think we have to be willing to do that kind of slow, steady progress, and then also
embrace the, sort of, eureka things that come along. Rebecca Roberts:
Carolyn, this question is for you. “What has been the most difficult health question
you’ve answered in your column?” Carolyn Hax:
Can we come back? Can I think? Rebecca Roberts:
Yes. Carolyn Hax:
If we come back to that, because that’s — Rebecca Roberts:
Absolutely, we can get back. Carolyn Hax:
We could be here for a long time. Rebecca Roberts:
Let me give Barbara a chance to answer the previous question about things coming up that
are awesome. Barbara Biesecker:
Yeah, I can talk about the excitement. I think, you know, you can’t be in genetics today — or
if you are and you’re not excited, that’s really sad — you should get another job – [laughter] — because things are — there’s no more stimulating,
you know, scientific career to be in right now because things are — I train graduate
students. And the curriculum we’re teaching them this year doesn’t resemble the one that
we taught them last year. And what they’re seeing in the clinic and the choices that
people are being offered are more extensive and differ in how you frame the choices for
people. So, in 20 years, the thing that I look forward to is the number of clinical
trials that have just started up in rare diseases that I never had thought that I would live
to see is tremendous. They’re early phase trials. And there is lots of bumps along the
way. But that’s very, very exciting, and things
that I didn’t think I’d ever see as potentially treatable may be in 20 years. That’s a lot
of time to learn a lot about treatment for things that we wouldn’t have even had a dream
about treating. So, that’s very exciting. And the other thing I think we’ll see is a
movement from sort of Mendelian genetics — one gene mutation for one disease or disease risk
— to this sort of cascade of multiple gene effects and, hopefully, some input from understanding
environmental insults that work together with the genes to cause people to tip over the
threshold to have common disease, diabetes, and cancer generally, and heart disease. That’s really complicated. It’s hard to even
think about how we’re going to do that now. But that’s the direction things are going.
It’s very, very exciting. David Valle:
So, another thing that I should have mentioned, is that I agree 100 percent with what Barb
said. But it’s worth just pointing out — and I recently was asked to take stock — how
many genes are there in our genome that, when they have a particular variant, can cause
a disease or a clinical problem? And it turns out, the number that we currently know is
still quite small — a small fraction of the total. And I think that we will see over the
next few years, because I think the methods and the technology are now available. And so, I think this is a sort of “you can
bet on it” kind of progress that we will, in the relatively short time — certainly
within 20 years’ time — be able to enumerate the contribution of every gene in our genome
to human health. And that knowledge, which will be based in part on — or in large part,
on the study of rare diseases involving those specific genes, but also basic science, and
also large population studies — will really bring a wealth of new knowledge into medicine
and, I think, improve medicine, and make it a much more effective business. Rebecca Roberts:
So, in 20 years, this symposium will be on overpopulation. [laughter] David Valle:
In 20 years, it’ll be on — much more on prevention I think. I hope. If we’re not — if we — it’ll
be on prevention and treatment. Barbara Biesecker:
It’ll be on elder care. David Valle:
Yeah, right. [laughter] But it won’t be by us. It won’t be by me. Rebecca Roberts:
All right, you ready? Have you come up with your answer? Carolyn Hax:
Yeah. You know, it’s funny, I’m thinking of my questions that have a medical element to
them. And, of course, when it comes to me, it’s always an emotional question. I mean,
it’s always an emotional problem. And, of course, I think one of the — I didn’t even
answer. I didn’t answer it in print because I didn’t have an answer. But it was a story
of what serious illness can do to people. It was a story of what our methods for dealing
with serious illness can do to people — like our — basically, our health system and the
expenses. Basically, it was a single mom and a daughter
— grown daughter. And the mom was ill and needed constant care. And so, the daughter
was — and they didn’t have money. And so, the daughter was working full time to support
both of them and also taking care of her mom full time. And she was writing to me, just
saying, “I see no hope.” Like, “I have no hope. I have no vacation. I have no savings.
I have no life. I have no friends.” And it just — you know, I’m just looking at this.
I’m like, “I have no answer.” And I, you know, it’s just — I would say that is the hardest question I
got on a topic of serious illness, because I believe her. I believe that this is — you
know, obviously, we’re talking about things like support groups and networks and online.
And sure, I’m sure that whatever the mother had had a community around it that provided
maybe respite care or something like that. But again, these are things that are available
— somebody who’s ill has doctors. And doctors have access. And so, apparently those remedies
had not been enough. And sometimes, you’re just stuck. You’re stuck for the — basically,
the duration of this person’s life. And I — at least, that’s what I was reading. And
it was — it stayed with me. I probably got that six years ago. Rebecca Roberts:
“Woody Guthrie and Lou Gehrig lived good lives, in spite of ALS. Mozart died in his
30s. Are we setting unreasonably high expectations for life?” Look at you all waiting for someone
else to answer that question first. Carolyn Hax:
I’m thinking, I’m thinking. Well, yes. But I just — I think you have to look at
the — again, life involves suffering. And I think we all have different thresholds.
But I think there are some basic thresholds for the amount of suffering we’re willing
to tolerate. And I think that’s what most of this is about. It’s like, “Okay, how
can we minimize suffering? We can’t eliminate it. And if you’re asking to eliminate it,
then you’re being really unrealistic. And, in fact, you’re denying yourself one of the
great pleasures of life, which is seeing the comparison between your suffering and when
you’re not suffering. And how can you enjoy this if you haven’t had that?” So, I don’t
know. My Puritan roots are showing. [laughter] But I do think that we will witness, at times,
a level of suffering that appears excessive. And again, this is totally subjective. And
it’s based on the society you grow up in. I mean, I’m sure that our definition of unacceptable
suffering is so much softer than one 200 years ago. And, you know, you keep going back. And
you just think of the amount of human suffering that led us to an industrialized society,
with medicine and science in such a prominent role. You know, we’re at a time where diseases
aren’t wiping out one-third of Europe. So, you know, I think we’re realistic based on
what we see around us. And we freak out accordingly. Barbara Biesecker:
Yeah, I don’t think the objective here — at least I would hope not — is to somehow normalize
the population. I don’t even know what that means, or how we would do it. But difference
is important in so many ways and teaches us so many things about ourselves. But many people
with differences — and there’s a wide variety of them — don’t feel that they suffer. And
many people with diseases that we consider, as providers, as pretty tough, people live
with very high quality of life. And when you interview them, they often wouldn’t change
much about their life for exactly what you’re saying is what they learn about suffering.
But there are plenty of things that we see in the genetics clinic where people suffer
in ways that keep us awake at night, like your inquiry due [spelled phonetically], that
are just unimaginable. And if we have a way to — I mean, all you have to do is spend
any amount of time at a pediatric genetics clinic. There are very sick children and children
who die young. And I don’t think anybody wants to even see that happen if that’s preventable.
So, I mean, there are lines at which I think we can all, as a society, agree that we would
like to do good with the things that we learn to change. Rebecca Roberts:
David? David Valle:
Well, I agree with those points. I mean, I think that the people that were mentioned
certainly did have productive lives. And I’m sure if they were here, they would say that
they enjoyed their lives. Whether they would choose to end — to have the end point of
their life the one that they were dealt with is a different question, I think. And, I guess,
I have the — perhaps, I have a luxury of being trained in pediatrics. As Barb mentioned,
there’s just no question what our goal is, which is to improve the quality of life of
those patients. Rebecca Roberts:
“Do Dr. Biesecker or Ms. Hax have some pertinent anecdotes relating to advising disclosing
genetic information to family members?” Barbara Biesecker:
That’s one of the — Carolyn Hax:
Don’t. Unless you’re invited to. I mean — Barbara Biesecker:
Yeah. It’s one of the most common questions we get in genetic counseling sessions, I think.
And it’s one of my favorite, because people often ask for advice, and I ask them what
they’ve been thinking and how they might do it. And about a half an hour later, they have
this whole plan of what they’re going to do. And I haven’t said anything. And then, they
jump up and they hug me. And they — [laughter] — for my expertise. And the truth is that
they know what they’re going to do. It’s a hard thing to do, and it helps to have somebody
to rehearse it with. But most people have spent years thinking about how they’re going
to divulge something in their family — to a sibling or a child. And, you know, you can
help them sort of work through, you know, what the downsides are and what’s holding
them back and whether this is the right time and why and what the setting might be. But
people do a very good job taking care of themselves, and none of the rest of us know enough about
their families to be able, really, to give them direct advice about that. But we can
coach them to take good care of themselves. Rebecca Roberts:
Carolyn, why was your initial reaction, “Don’t”? Carolyn Hax:
Well, as I said, don’t without an invitation. I just think it’s, again, a real source of
friction in families and people who are close, is when you cross that line between your certainty
that you needed to know and you projected as another person’s certainty, that that person
needs to know. And I think that you have to be really, really careful about how you use
that information, how you — and again, you have that conversation. You have to know not
just what you would want, but you have to understand your family member — have to understand,
you know, two kinds of people — which one? Which one is this? And you also have to have
a conversation to feel out the appropriateness of the conversation. Now obviously, if you have a child and you
have something in your family, then you’re going to have to tell that child at some point,
especially if, again, you have — there are preventive measures you can take or things
that you can do to preserve your health — or if they need to know that they need to travel
early and often. But, you know, it’s — but with a peer, I think you have to be very careful
not to over-inform just because you wanted to know. Barbara Biesecker:
It’s very hard in families where there are estranged family members, or people who don’t
have much of a relationship and there’s a risk identified for something like hereditary
cancer that people could be screened for. It’s understandable that they wouldn’t want
to contact people out of the blue and say, “Oh, by the way, you may be at risk for
this cancer.” Very difficult thing to do. But in many cases, people often come to decision
that that’s the right thing to do so that people are armed with information that they
can make their own personal choices about. But that’s not easy to do. David Valle:
I would say it’s surprising how different people view these issues differently. And
part of that difference perhaps stems from lack of understanding. But then, once you’ve
sort of done your very best to bring their state of understanding to as an accurate level
as possible, they still have different views on what it means, what they should do. And
so, it’s very highly individual. And it also changes over time. A person may have a particular
opinion at one point of time, and then, with the passage of time, they have — they see
it in a different light. So, it’s — I think it’s one of the real fascinating parts about
doing this kind of work, as to how different people perceive it. Barbara Biesecker:That’s a good point, too,
about the — that you might change, because I can think of — you put yourself in this
situation. You say, “Okay, would I want to know about the possibility of this illness?”
At 22, I would probably say, “No, I don’t want to know. Let me have this time.” And
then, now, as I’m pushing 50, now I’d want to know because there are certain things I’m
going to want to get done. [laughs] You know? David Valle:
[affirmative] Barbara Biesecker:
And so, that’s very apt. You have to think about the state of the people that you’re
talking to as well. David Valle:
[affirmative] Carolyn Hax:
[affirmative] Rebecca Roberts:
Anecdotally, this is from an audience member, who says, “I was a docent on the exhibit.
My experience, the vast majority of visitors said they did not want to do testing. Of the
docent group, well over half did not want to know.” So, that also might be a function
of age as the museum — Barbara Biesecker:
I just think that’s a fascinating issue. When you get a room full of geneticists, that’s
our fun — David Valle:
Right. Barbara Biesecker:
— fun conversation. [laughter] And I have to say that — Rebecca Roberts:
Wow. Invite me to your next party. [laughter] Barbara Biesecker:
I will. [laughter] You know, despite the fact that I work on
a genome sequencing study at the NIH where people are wildly enthusiastic to — if I
can grossly generalize — to learn their results for a variety of different reasons. I don’t
have any interest in knowing my own genome sequence. I never have. It hasn’t veered.
It hasn’t changed. And it doesn’t bother me that I do. And it doesn’t bother me that other
people want to know. I think you can be excited and interested in genomics, and not necessarily
want to know everything. Is that on tape? [laughter] Okay, you’re on. David Valle:
Yeah, I’m not going to answer that. Yeah. I mean, it — I haven’t — I certainly haven’t
done any of my own genetic testing. But I’m also, you know — it would be a curio for
me now at this stage of my life. It would be relevant, perhaps, to my kids, but I wouldn’t
do it without, you know, discussion with them. Rebecca Roberts:
Well, that’s an interesting point. We’re talking about, as a fait accompli, when you know something,
how do you say it? But you can make an argument that even the decision to get tested is something
that you have to think about in the context of the rest of your family. I mean, because
you might say, “Well, I’m curious.” But then, all of the sudden, you’re freighted
with this knowledge. So, you should almost ask whether they would want it — they would
want you to know. David Valle:
I will say this. I think one’s decisions will be different if it’s sort of like a — just
like, well, would you want to have your genome sequenced for curiosity’s sake, let’s say.
That’s one level. But if you’re at risk, or somebody in your family is at risk for a particular
problem, then you — you know, it’s hard to really — I think it’s a different issue.
And, what you think in a sort of non-specific, general way may be very different from what
you decide when you’re under the gun, basically. Barbara Biesecker:
It’s a good point. Rebecca Roberts:
“For geneticists, genetic information is comprehensible. For many laypeople, the results
of a genetic test may be confusing, even frightening. As genetic tests become more common, do you
see the job of genetic counselor becoming more popular? Or should doctors be trained
to perform the task of explaining the complicated results of a genetic test?” Barbara? Barbara Biesecker:
Both. David Valle:
Exactly. That’s exactly what I was thinking. All of the above. All of the above. Barbara Biesecker:
Yeah. This is going to move out into mainstream medicine. It’s already starting to. So, we
got to get our primary care docs more comfortable with genetics. And the studies even that have
been funded by our institute have shown that primary care docs don’t know a lot about genetics.
But I think we have to continue to try and help them. And the geneticists and genetic
counselors will help with that transition. It’s going to be a mess for a while, because
there will be things that are hard to — hard for the local docs to interpret. The genetic
counsellors are starting to think about workforce issues and different ways to train genetic
counselors because we almost certainly will need more of them. They may end up not looking
exactly the same as they have for the past 35, 40 years, because we have very small programs.
We do very hands-on training. They’re in the clinic at least a day a week all through their
graduate education. And that makes it very time intensive. And so, if we added a lot
of students, it would put, on most of the programs, an undue burden for them to get
clinical experience. So, we’re starting to think about, are there
different ways to share what genetic counselors do and train people in different ways? And
it’ll take some time to figure that out. But we’re starting to look into it. It’s been
a fantastic career — over the course of my career because things — what we started with
was pretty simple. We couldn’t diagnose most of the people that we saw. And when we could,
it was a single-gene mutation. And it’s gotten far more complicated. So, it’s been stimulating
in a way to sort of relearn as you go along. You have to relearn your genetics the entire
time. And it’s been a very fun profession. So, I think it’s a great thing for people
to go into. But I don’t think it can stay the same. Rebecca Roberts:
In terms of training doctors, are there specialties that are better at it than others? I mean,
I think about — Barbara Biesecker:
I don’t know the answer to that. Yeah. Rebecca Roberts:
— right? That they think about these things. Barbara Biesecker:
Oh, don’t even get me started. [laughter] David Valle:
Yeah. Rebecca Roberts:
No, I’m getting you started. David Valle:
I’d like to weigh in on that — [laughter] — in a general way. I think that everyone
who practices — first of all, genetics underlies all of medicine. So, whether you’re a plastic
surgeon or an internist or an obstetrician or a psychiatrist, or whatever you are, as
we go forward, you’re going to need to understand — if your goal is to understand your patients,
then you’re going to need to understand genetics much more than days gone by. So, I think of
genetics as something that should be inculcated into the fiber of all physicians. Now, that’s going to take a while. However,
genetic counselors are fantastic. The reason being is that they have been — they have
training — they understand the genetics, but they also have training in areas about
understanding people and how people make decisions and how people understand information and
good news and bad news and so forth and so on. So, at least at this stage of medicine, boy,
we need a lot more genetic counselors, I think. And it — also, what I observe at our place
is that, increasingly, we are contacted — we, the Institute of Genetic Medicine, are contacted
to ask, “Do we have a counselor that could come and work, let’s say, a half a day a month
in Clinic X, because there’s a few patients there that might need some genetic counseling?”
And so, we always try to take advantage of that. And what happens invariably, 100 percent
of the time is, first of all, the patients get better information. That’s number one;
number two, while the counselors are sitting in the room waiting for the next patient,
they educate the doctors. And so, it’s a really potent educational activity. And usually,
two or three months down the road, then they come back and they say, “We liked that.
Could we increase that clinic — that counselor in the clinic a day a month?” And then,
it’s a day a week, and that sort of thing. And so, we — as Barb indicated, the number
of counselors that are currently being trained, I think, are going to very shortly be or currently
inadequate for the job at hand. Barbara Biesecker:
And I would think this next year is going to be the first year there’s certainly going
to be more jobs than counselors trained. David Valle:
Now, it comes with challenges. You have to get reimbursement and all of those little
mundane details about how to pay for them. But I think they’re incredibly valuable. Rebecca Roberts:
Well, while we’re on the subject, “How would you recommend young students get involved
in this area? And what type of person makes a good genetic counselor?” Barbara Biesecker:
Somebody who loves the science of genetics and how it works, explaining it to other people,
and helping them make meaning out of it, and incorporating it into their lives. So, it’s
a great combination of, you know, appreciation for a sort of basic science. But what you
care most about is how people process it and use it and apply it in their lives. So, most
of our graduate students who come into our program have a strong background in molecular
biology or genetics, and also psychology. And we spend a lot of time — I believe that,
actually, it’s harder to learn the counseling skills than it is the genetics if you already
have a good, strong science background. David Valle:
[affirmative] Barbara Biesecker:
Very hard to learn how to work with people and predict what they’re going to need when
they’re making difficult decisions and live with difficult consequences. Just last week,
a student who’s at the beginning of his — we have some boys in genetic counseling, although
it’s primarily women — of his second year. He was presenting a case he saw over the summer
where a father completely identified with him because he — well, he was assuming because
he was the other male in the room. And he had come in to find out if he was a BRCA2
carrier, because his mother was. And he was at 50 percent risk. And he didn’t want to
be there. He hated physicians. He never wanted to go to the clinic. He was there because
his wife told him he had to. And he was learning about the chances that this could be passed
on to this children. And he just started to sob — belly sob — sob
and sob and sob. And he turns to this student, who’s not really in charge of the case and
said, “If I had known this, I never, ever would have had these children to begin with.”
And part of this student’s reason for bringing up the case was how to take care of somebody
who is regretting such a major life decision. And part of my job is to help this student
realize that what he regrets is that his children might be at risk. He doesn’t regret that he
had his children. So, we have to learn how to be very sophisticated
in hearing the meta-message behind what people are saying. He didn’t mean, literally, he
didn’t wish he had his children. But he certainly didn’t wish that he was in the situation that
he had found himself in. And that was — even that was kind of hard for the student to hear,
because the student felt so much responsibility for the fact that this guy was sobbing and
looking to him for comfort, and he didn’t know how to comfort him. So, this is part
of the training, is to deal with really difficult human emotions and difficult situations, and
help him figure out if it was the best thing for him to go forward with testing. Rebecca Roberts:
Carolyn, how would you answer that question of what sort of person makes a good counselor? Carolyn Hax:
I would say, the ability to recognize in somebody else different ways of receiving news. And
I think — I’d say in reading my mail over the years, I’ve found that the people who
become most frustrated by others are the ones who see everything through their own framework.
They understand — they look at the world a certain way and just, without even questioning
it, just assume others do the same. And I think that’s the person who won’t make a good
genetic counselor. [laughter] I mean, it’s the one who can just step out
of their own experience, and be able to see that every individual is going to have an
individualized response to it. And they’ve got to basically watch and, you know, take
in the way the person is processing, and then be what that person needs. Really, it’s almost
the same thing that to make a really good parent, actually. You know, you’ve got to
be the parent that your kids need, not the one that you think is going to be the best
parent, right? So, for the genetic counselor, I would imagine with these incredibly difficult
situations, you’ve got to get over yourself enough to recognize what your patient, your
client, needs. Barbara Biesecker:
Will you do interviews for us? [laughter] It was a great description. Rebecca Roberts:
So, this is sort of the same question, but for you, David. You say that the field of
medical genetics is changing rapidly. What advice would you have for someone just beginning
their medical training, training to work in a job that doesn’t really exist yet? David Valle:
Well, I think that — I mean, I think the intersection of medicine and genetics is where
it’s happening right now. And so, if that is the kind of area that is of interest to
you, then I would get involved in it, and go at it with a vengeance and learn as much
as you can. And, on the one hand, be as good a doctor as you can be. And, on the other
hand, understand this and use it to give the, you know, the most optimal care you can to
your — and informed care you can to your — the people for whom you’re responsible. Rebecca Roberts:
On a side note, it seems like as almost any job becomes more specialized, ironically,
it means getting back to basics in terms of training, right? I mean, it doesn’t matter
whether you’re blogging or vlogging or whatever. You actually need to be a decent writer. So,
it doesn’t matter if the genetic information is changing, you need to be a good clinician
and diagnostician, and, you know, the original skills. David Valle:
Right, but the originals — I agree with that. But the original skills, which is really accumulating
the information and accumulating it in a rigorous and thoughtful way. It’s just that now, the
information — the quality of the information is actually much better. That’s not to say
that the old information — you still want that information. But there’s new opportunity
for really high-quality information. And you want to get that information and make the
best of it. So, there will be nothing, I think, in fact,
the contrary, that will replace — I hope nothing that will ever replace a thoughtful
and caring physician. It’s just that, to be a thoughtful and caring physician, you’re
going to need this knowledge and bring it to bear on your patients’ conditions. Rebecca Roberts:
When choosing a sperm or ovum donor, how much screening is required as we move into this
age — David Valle:
You should only pick one. Rebecca Roberts:
— of people choosing to have children — [laughter] Rebecca Roberts:
I know, right? [laughter] “How much screening is required, as we move
into this age of people choosing to have children on their own?” This sort of gets back to
what you mentioned earlier, Carolyn, about in your interest of avoiding your own genetics,
you might end up with something entirely surprising. I don’t know how much genetic information
is available for donors. Carolyn Hax:
So, it depends on the center. Some of the centers do a lot of screening for common mutations.
And that information is available. Some of them take extensive medical histories and
family histories on the donors. Some of them do very little. So, it’s widely variable what
information that you can get. And it is one of the reasons that, sometimes, people go
after identifying their own donors, because they’re people they can sit down and talk
to about their family history and their medical history and get that information. David Valle:
I know, at our place, we do a much better job than we used to, I think. And in my earlier
days, I had a child with PKU at our place. And as we did the family history and so forth,
it turned out that there was a sperm donor that had been set up at our clinic. And what
I discovered was — this is decades ago — but what I discovered was that there was a woman
that was sat at the desk. And if you came in the office, you would say she was a secretary.
And she had a shoe box below her desk of index cards. And she would look at the couple when
they came in. And then, she’d go down in her index cards and say, “This is a good one
for you.” [laughter] And the donor, in this case, was someone who
had donated quite frequently. And so — and clearly was a carrier for PKU. So, I mean,
there’s no way to know that ahead of time. The mistake, if there was a mistake, was to
let — you know, to pick someone as the donor over and over again. Carolyn Hax:
I have a great mental image of that woman. Rebecca Roberts:
These people are 57. [laughter] Barbara Biesecker:
Oh, hold on, I got it. David Valle:
Yeah. Carolyn Hax:
Do I have the sample for you. [laughter] David Valle:
I emphasize: that was many, many, many years ago. [laughter] Rebecca Roberts:
“Since, for the most part, the cost of genome sequencing is no longer an issue — or, at
least, less of an issue — and the evidence is already there that the benefit is immense
and growing, what are the roadblocks preventing universal genome sequencing?” Carolyn, what
are your thoughts on that? Carolyn Hax:
Well, I mean, isn’t the obstacle that some people don’t want to know? And is that a roadblock
that we need to deal with? I mean, I think that’s a roadblock you leave in place. Again,
unless preventive measures and treatments become so good that you can actually act on
the information. But even then, I still don’t think you can make it routine unless somebody
checks the box that says, “Yes.” Barbara Biesecker:
I think, also, despite the promise, one thing that was illuminating for me is my husband
and I, a year ago, visited the Sanger Sequencing Center in the U.K. And they had done this
fabulous thing. So, essentially, everybody on this campus literally is working on sequencing
on one shape or form. But there’s a small little, sort of, education public policy center. And they decided that it would be a really
incredible experience if they offered sequencing to everybody who worked there. And they could
go through the experience of having their genome sequenced — It was their choice. It
was voluntary. And then, they would sit down together and talk about what it was like to
get the results. And many of the people we interviewed with when we were there had participated
in this event. And their overall conclusion was that it was absolutely the most boring
information they had ever gotten — [laughter] — in their entire lives. And that’s because,
you know, the amount of likelihood for any one individual to find out single-gene mutations
now — at least the way it had been done for them; that are useful to them — is small.
For those people in which we find them, it can be very valuable information. And so,
it’s very hard to figure out when is the right time, and when, you know, are we really close
to when it could be beneficial for people? Or are we still at a stage where we’re mostly
going to get pretty boring information back? And I don’t think any of us has a really good
crystal ball for that. David Valle:
Yeah. I don’t know when the time will be right, but I do believe that we will see more and
more of that. And I think we have a lot left to learn. If we could understand the consequences
of the sequence that every position in the genome right now, we’d be doing it. We have
a lot left to learn. But progress is moving at a reasonably rapid pace. And it’s progress in many different areas.
It’s not just the genome sequencing. It’s hardcore biology, experimental biology of
how to test and understand that information. It’s how to keep track of this information.
How to go back and re-interrogate the information because you — think about it. You do — let’s
say you sequence someone’s genome and you interpret it to the max today. I can guarantee
you that if you went back and reinterpreted it a year from now, there’d be stuff that
you’d learn in the interim. And you would reinterpret it in a slightly more nuanced
and more informed way. And that’s not the sort of standard way we do medical testing
right now. We do a one-time kind of test, and that’s it. So, I think — to me, I think
that’s the way we’re going. It’s just a question of how quickly we get there. The other thing I would mention, is that we’re
talking about doing genome sequencing to inform the health of the individual whose genome
it is. There’s also an activity that we really haven’t mentioned yet, but what would be called
— what I might be — call a pre-conceptual genome testing, let’s say, if not whole genome
sequencing. But pre-conceptual testing for carrier status for recessive — very serious,
difficult to treat, recessive disorders that have their onset in childhood, and we can’t
do a good job at treating them. And the way we discover couples that are at risk for those
difficult disorders is by them having a child with that difficult disorder. Now, if we could
— and this is really, I think, much more in the future — I mean, in the present. We could, say, just make a list. And there
are groups that are already advocating this. Make a list of a number of disease gene that
are very well worked out and the — you get these diseases when your parents are asymptomatic
carriers and they pass it on and you have a one in four risk for each pregnancy. If
we tested those parents pre-conceptually and said — we don’t, actually, then require that
they have a child with this disorder to know that they’re at risk. We say, actually from
the basis of the sequencing, “You’re at risk for having — your risk for having a
child with this disorder is one in four.” And that information, I would think, would
have a substantial reduction — would lead to a substantial reduction in those very thorny,
difficult to treat disorders. This is essentially expanding the Tay-Sachs — the screening program
— to a larger number of difficult to treat disorders. Rebecca Roberts:
We’re running out of time, but I want to run through a couple of these. “Do you think
that PGD” — which someone needs to explain that acronym. Pre-gestational diagnosis — something? David Valle:
Pre-natal genetic diagnosis. Rebecca Roberts:
“– approaches an ethically-sensitive line that encroaches on eugenics. How do we protect
ourselves from assuming we know good and bad genes — for example, Sickle-trait protection
from malaria?” Barbara Biesecker:
I would say that that kind of harkens back to Carolyn’s example earlier, where if people
are affected or have had affected family members, their sort of impressions of what the condition
— the burden of the condition was. Usually PGD is used in families where parent is affected
— one of the parents is affected, doesn’t want to pass on that condition to a child,
but wants to have a biological child. And the thing I always — I think PGD has offered
options to families who didn’t feel that they otherwise had options to have biological children.
And so, it can be seen as something that’s been very important in people’s lives. But I always like to balance it with the fact
that it is very expensive, and it isn’t always covered by insurance. And so, it is one of
the areas where, if you don’t have money, it is not available to you. And I’ve had patients
say very loudly to me, “Don’t tell me that’s a choice, because for me, it is absolutely
not a choice.” And I think we need to always been keeping in mind when we herald up these
new options that they’re available for some people. And PGD can be an incredible — I’ve
known people in Marfan families where the parents are affected. And they have biological
children. And they’re selected not to have the gene for Marfan syndrome. So, and there’s
many, many, many other examples where they feel very happy to have biological children
who are not affected. Rebecca Roberts:
“Discuss the role of epigenetics in regards to various cancers.” Let’s talk about epigenetics
generally. Barbara Biesecker:That’s yours. Rebecca Roberts:
David? David Valle:
In five words or less? [laughter] Rebecca Roberts:
Tick-tock. Carolyn Hax:
No, no, no — [laughter] David Valle:
Well epigenetics is that phenomenon, where the expression of genes is regulated by modification
of the — largely by modifications of the proteins coating the genes or modifications
of the DNA that don’t change the actual sequence. And so, just the way I like to think about
it, is that we all start life as a single cell. And that single cell then must — as
the embryo develops, must create a whole battery of cells, some of which will be driven down
the pathway of, let’s say, being heart muscle cells, and some will be neurons, and some
will be blood cells. They all have the same genetic information. And yet, once they’ve
committed to being a heart cell, when they divide, they make two heart cells. They don’t
make a heart cell and a neuron. Or when neurons divide, they make neurons. So, these are like modifications that are
acquired as the individual develops that turn on certain sets of genes that make certain
cells do certain things, and turn off other sets of genes. So, it’s a solution that evolution
has come up with for starting life as a single cell and ending up as a very complex multicellular,
multi-tissue organism. Now, like every other biological process,
epigenetics and the mechanisms by which those modifications are put in place can sometimes
go awry. And when they awry, they usually lead to abnormalities of gene regulation.
And one area that that — that we see medical consequences of that is in cancer. Rebecca Roberts:
I think epigenetics has sort of been translated into the popular imagination as acquired traits
that can then be passed on through your genetic material. David Valle:
Right. So, the vast, vast majority of epigenetic modifications are not passed on to the next
generation. Again, think back to my example. If that happened, you couldn’t really — biology
couldn’t start with a single cell. You have to have that plasticity to make cells of many
different kinds. So, if you think about it, the way to do that is to erase all the epigenetics
and then put it back again as the embryo develops. Now, it’s an area of very intense interest
right now because there are certain phenomenon that suggest that sometimes the, what we call
loosely the erasure of the epigenome and reestablishment of the epigenome, may not occur 100 percent
completely. And some of the data that support that are these observations that have been
in the epidemiology field for a long time, that if you look at — you can see trans-generational
effects of, let’s say, things like famines. So, a group of people lived through a famine.
They, then, two or three years later — so, it’s not that the embryo experienced the famine.
Just these people experienced the famine. Then, they have children. And then, you look
at the health outcomes of those children. And you can see that there are certain conditions
that are more — that occur more frequently in such children. And so, it’s hard to explain.
And we know it’s not in the sequence, per se. So then, the question is, are the epigenetic
marks or the epigenome completely erased? Or are there some parts of it that are not
completely erased? And that explains these phenomena. And I would say that increasingly, just in
the last couple of — I’ve been a person saying, “There’s no evidence for that — or have
no convincing evidence of that.” But I must admit now, I think there is some data that
really looks pretty solid for that to me. I don’t know what others say, but that’s what
I think. Rebecca Roberts:
I think we just have time for one final question here. And I’d like to hear from all of you
on it because I think you’ll all have different takes. The question is, “What are some tips
regarding coping with uncertainty?” [laughter] Barbara, let’s start with you. Barbara Biesecker:
So, I love this question. One of my current research fascinations is perceptions of uncertainty.
We know a little bit from social science that our personalities have a lot to do with how
we perceive and manage uncertainty. There are people who are actually ambiguity averse.
So, they sort of stay away from — Carolyn Hax:
That’s a light way to put it. [laughter] Barbara Biesecker:
They stay away from things that have a lot of uncertainty. We also know that being an
optimist allows us to have a greater tolerance for uncertainty because we’re more optimistic
that the good will come of it on the other end. And so, it’s a genetic counselor’s job
to get at sort of how people manage and think about uncertainty. And this has always been
part of genetics, from the very beginning. We’ve often not been able to make a diagnosis
or not been able to tell a family what the prognosis would be for their child, or even
sometimes whether something is inherited in their family and what the chances are it could
happen again. But it has never been more prevalent as it is today and certainly in genome sequencing. So, even when genome sequencing is done with
very good indication for a rare disease and can come up with a mutation that probably
explains the condition in a child, it still has a lot of uncertain information that goes
along with it. And if there is another variant that’s found that might be unrelated, there
is often uncertainty with that. So, we have to help prepare people for things that aren’t
necessarily related to why the test is done in the first place and our ability to interpret
that information is wrought with uncertainty. So, the genetic counselors have to do a much
better job at helping people really think through surprising information and information
that may not come with a very full explanation. And so, there is no magic answer to that.
But I do think it’s a responsibility that providers to help people sort through how
they manage uncertainty in their lives in general. One of my graduate students sort
of said it clearly: “All of life is uncertain.” So, we have to come up with our own models
of how we manage that uncertainty. But there are clearly some people for whom that really
— they really want to avoid uncertainty. And in those cases, it may be a good idea
not to get themselves in a situation where there is a lot of it. Rebecca Roberts:
So, getting back to the ‘who makes a good genetic counselor’ question, the ambiguity
averse, maybe not so much. Barbara Biesecker:
Yes, not so much. David Valle:
So, I think that, obviously, to be alive is to deal with uncertainty because we all have
uncertainties. And different people respond to it in different ways. The one thing that
I usually say to patients where the uncertainty and ambiguity comes down to some kind of medical
issue is that — I think it’s very helpful to let them know before whatever you’re doing
— and it may be a whole genome sequence or it may be a simple blood test — that, you
know, some of the information — the information may come back and I may be able to give you
a very clear interpretation of the significance of this information. Or, it may come back
and I won’t be able to tell you with any certainty what it means. That’s something to be aware
of before we do the test. But when there — when you accumulate the
information and there is some degree of uncertainty in terms of its significance in a health matter,
what I like to say to the family is, “Well, let’s do what we can to deal with the — to
eliminate as much of the uncertainty as possible. And then, we will, in the end, get down to
some Nitus of sort of uncertainty that we can’t reduce anymore. But at least let’s ask
ourselves, “Is there anything we could do to eliminate at least parts of it?” And
that may be additional testing. It may be tailored childhood education or hearing tests.
Or — it could be any number of things. But rather than — you know, if it’s something
that we can actually do something about, let’s get that taken care of, and then we’ll deal
with the fundamental core of uncertainty. Rebecca Roberts:
Carolyn? Dealing with uncertainty? Carolyn Hax:
Yeah, you both sort of stole my answers. But — [laughter] You know, it’s — but it — going back to
your graduate student — the ‘all life is uncertain’. You know, it’s just, I think that,
really, it’s a three-part process. And I think the first one, because I tend to be meaner,
is that you just have to poke through the idea that we are in control of anything. And
I just — you just — I have — as I get old and cranky, I lose patience with people who
think that they have a say in what happens, I mean, in what comes. I mean, certainly,
you can stockpile water in case your water goes out, you know, or something. But I think
it’s, you know, the — what was it, the uncertainty averse? What was it? Barbara Biesecker:
Ambiguity averse. Carolyn Hax:
Ambiguity averse. Yes. I mean, I call it controlling. And it’s — [laughter] And stop it. [laughter] Because — and again, first is to tear down
the illusion that you have say in many things. You get to choose what you have for breakfast
maybe. But beyond that, it’s touch and go. And then — David Valle:
[laughs] Carolyn Hax:
But then, I think you also have to bring in — of course, once you’ve reduced all of that
to rubble, then bring in the optimism and you say, “Okay. Now, look at your history.
And look at the number of times that uncertainty — like, your inability to control the outcome
or your inability to foresee the outcome — actually resulted in something great that you never
could have expected and that you never would have driven toward on your own. And I think
when you start to understand that — I mean, maybe I just live a particularly random and
accidental life. And that’s entirely possible. But when I do that exercise and I look back
at all the things that I hold most dear, almost all of them were the byproduct of something
going horribly wrong somewhere else. [laughter] And at the time, of course, during that horrible
wrong, it seems like nothing good will ever happen again. But often, again, you find some
of the best things. When you get knocked off the road, you find a beautiful path. And so,
I think that’s — you know, that’s part two. And because I’ve gone on too long on part
two, I don’t remember part three. [laughter] So, but it’s also, I think — that’s right.
Now I’m where you stole this part of the answer. The small steps. The things you can control.
Because you can often do productive things and you can do calming things. And I think
usually the two of them are combined. And if you can come up with a process that you
can do — and this could be anything. This could be medical. This could be preventive
medicine. This could be figuring out treatment options. This could have nothing to do with
medicine and it could just simply be, “Okay, you know what? I’m going to go back to a pencil
and paper balancing my checkbook, because then I don’t lose sleep over money.” I mean,
it can be as minor and as weird — or as, to anybody else, completely ineffectual. But if it calms you and if it feels like you’re
getting somewhere, that isn’t a — I find that, actually, is the most productive way
to deal with uncertainty is, like, because I’ve got my little — I can control this.
You know, that what I have for breakfast. And so, I am going to — you know, I’m going
to work the hell out of it. I’m going to do it great. I’m going to rock breakfast. You
know what I mean? And so, that becomes — as I said, it’s sort of three parts. And in a
way, it’s all, of course, going back to the first one and going back to my innate cruelty.
It’s really delusional. Basically, you’re constructing a delusion of optimism and control.
But I’m fine with it. [laughter] Rebecca Roberts:
And on that — Barbara Biesecker:
Can I just add one thing to that? [laughter] It was a great three-part summary. [laughter] One of your parts, I think, was an important
thing that I failed to highlight earlier, which is: in most of the families that we
deal with, even when we see great sadness and suffering — and we certainly see a lot
of families who have loss that we wish we could take away for them — people are incredibly
resilient. And what we see more often is hope. And even in very serious diseases like Duchenne
muscular dystrophy, we’ve just finished a study that shows that parents who are enrolling
their children in early phase trials can differentiate their expectation that their child is likely
not to get better. These are early phase trials. They’re just really safety trials. And they
understand that. But they still hope that their child will benefit. And they can distinguish
those two things. And they sort of say, “We understand this. Leave us alone because we
need our hope. And it doesn’t mean that we don’t understand what a trial is about. We’ve
consented to it. We’ve signed on.” But uncertainty often breeds unexpected wonderful things.
And the families we deal with tell us that, over and over again, “This has been the
hardest thing I was ever dealt. I wouldn’t change anything for it, and I’m a different
person as a result of it.” And they mean it very sincerely. And I think we do need
to remind all of us of that. And you did that. Thank you. Rebecca Roberts:
Well, that’s a wonderful place to end. Barbara Biesecker, David Valle, and Carolyn Hax, thank
you all so much for being here. [applause] And thank you all for your excellent, excellent
questions. To close the program, I’d like to invite Maria Freire, the President of the
Foundation for the National Institutes of Health, to join us on the stage. Maria Freire:
Well, my goodness. I don’t know about you, but it made me think a lot. And ending with
hope. I think that’s absolutely fantastic. I think we owe a round of applause for Rebecca,
who did a fabulous job. [applause] And, of course, to all our presenters: Carolyn
and David and Barbara, thank you. A lot of good thinking. And I still want that world
20 years from now when we can tackle all of these diseases. I think it’s going to be pretty
awesome. And frankly, we’ve had an awesome audience.
And the questions have been truly remarkable and thought-provoking. And thank you all for
being here. Thank you all. This has been a wonderful end of what is still a continued
journey to have. This exhibit, as you all know, will go to
different cities around the country. And we are proud and pleased to continue this partnership
with the museum, the National Human Genome Research Institute, the Foundation for NIH,
and all of our sponsors and our funders. So, thank you all very much. And we continue — this
is a continuing exhibit. We continue to raise funds to make sure that we have education
and public programming around these different places of the exhibits. So, thank you very much. Good night. Safe
home. [applause] [end of transcript]

Comments (1)

  1. I love Carolyn Hax!

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