GM4: Needs for Genetic/Genomic Literacy Among Obstetricians and Gynecologists – Nancy Rose

Nancy Rose:
I am a board-certified geneticist, and today I’m representing the American College of Obstetrics
and Gynecology. I’m also representing the American Board of Medical Genetics. I’ve been
on their board of directors for about five years, and so Mimi Blitzer, who’s our executive
director, has also vetted these slides, as well as the College. I’m not too challenged
— I’m challenged with this. Okay, so this is our — it was very interesting,
I said to Gene, and I want to thank him and Marc, too, for inviting me and for their guidance
— how everyone took Gene’s structured list so differently, and you’ll see mine is quite
different, too. So we have 55,000 members in the College, and just like cardiology,
that includes international people, some nurses, some OB, anesthesia. But I think the point to be made here is this
is a large group. And that our goals for patient management is to arm physicians because, with
regard to genetics, we think they are overwhelmed. As Bill said before, OB-GYNs are very worried
about litigation, and so they are very concerned about being in new waters and making a mistake.
They really rely on our documents, which are, I would say, expert opinion as opposed to
absolute evidence. And they also are being thrown around by a lot of corporate marketing.
So with regard to non-invasive prenatal testing, which is a test that came out within the last
year, October of 2011, we now have new graduates of residency programs who have never had a
drug lunch in a hospital because they’re not allowed, who get called by these guys to go
have a nice steak dinner. And it’s very hard, I think, for them to deal with some of this
information, and so the College, the community on genetics, tries to help manage some of
these questions. So, for some other examples, for the busy
practitioner, I think genetics is viewed as a complex nuisance. It interferes with their
time. It’s too confusing, and they’re very worried about the issues that will come out
of making a genetic decision. They have little time. I think many times family histories
are inaccurate, and they’re very worried about violating the privacy of other family members.
And some of the things I’m going to talk about are — really have to do with arming the patient
to come in with the right information in the first place. There’s very limited genetic
counseling support, and there’s abysmal, of course, genetic counseling reimbursement.
And commercial labs, I mean I live in Salt Lake City, right, so lots of financial interest
and commercial labs to provide genetic support. We all have stories about the manipulation
of patients by commercial labs to order things people really perhaps don’t need. This is what the committee looks like. In
the room, it’s very formal. I sit in on Bob Saul’s AP committee, which is really informal
and warm. This thing is very formal, right? And there’s ACOG staff around a big table.
There’s the chair; a vice chair; a young member who’s usually under 40, not a geneticist;
there’s seven members. There’s a genetic counselor. We’ve had the same genetic counselor for 10
years. And liaisons to other groups and other ACOG committees. I’ll talk about those in
a minute. We have internal collaborations with other
groups. For example, I wrote the sort of genetics piece for the assisted reproductive technology
that came out of GYN practice. And we have an ethics committee. I called them because
I’m trying very hard to answer the ACGH question for prenatal diagnosis, and I really need
some ethics support for this. These are the groups that we collaborate with,
mostly the American College of Medical Genetics and Genomics; the CDC — I sit on the SACHDNC
meetings for newborn screening; the ASRM; of course Pediatrics; the Society of Maternal
Fetal Medicine; and the National Society of Genetic Counselors; March of Dimes; and, of
course, NCHPEG. We like to use external collaborators. I’m pushing very hard to write documents that
other groups agree with. This has been a big problem. The College of Medical Genetics and
Genomics supports SMA screening in pregnancy; ACOG didn’t. And I think this is very confusing
for providers, for support groups, for advocacy groups. And so the more standardized information
we give, I think the better off we are. And to that end we recently put out a statement
on non-invasive prenatal testing that was a joint document between ACOG and the Society
of Maternal Fetal Medicine, mostly so that, you know, if Mommy said one thing, nobody
could say, well, Daddy said something else. These are our standard educational activities.
We turn out committee opinions. They’re practical. They’re educational. They’re usually linked
to a website for further [inaudible] so that it’s reliable. We update, and we just updated
our technology assessment document. I’m trying very hard to incorporate genetics at the national
meeting that happens yearly. And there’s a new education director for the college so
I’m meeting with her to try to change that and to work on some of these outside documents. We have a collaboration with the ABMG, and
I’ll talk a little bit about how that works. It’s not easy because the ABMS says you have
to do these things for maintenance of certification, but the way the ABMG interprets that is not
how ABOG interprets that, and I’m sure many of you have the same issues if you’re double
board certified. And then we’re trying to turn out sort of
the timely publications that have concrete how-to sections. So, for example, on our document
on cystic fibrosis screening, there’s a section on what are you supposed to tell a patient
about what the phenotype is for cystic fibrosis, so I just copied here a little bit about,
you know, what to say to your patients. In terms of guideline development the committee
sits around, develops some ideas. The guidelines are written by an assigned member. It’s vetted
by the committee, and then it goes through all of these stages with a published timeline
in the major OB-GYN journal, Obstetrics and Gynecology, and one of the issues with this
whole system is that it’s very long and cumbersome. And so we got the non-invasive prenatal testing
out almost within a year after it was commercially available. That was kind of a record. It’s
very hard to get this done in a timely way. And the journal only has so much room to publish
your guidelines. I think we should be moving toward increasing
joint collaborative documents. We’re going to do a microarray document that will also
be combined with the Society for Maternal Fetal Medicine, I think, for consistency.
And this is a list of some of the documents we’ve put out in the last five years. I’m
not going to read them, but they are kind of what you think they might be. This is what
they look like. These come up periodically and they are vetted by the group to see if
they are still relevant, and if they need to be updated, they are. In terms of answering the question for Gene
— how do you deal with the double-board certified diplomats — we have, and I didn’t know this
— we have 153 people that are, like me, certified in OB-GYN as well as genetics. The majority
of these people are either general OB-GYNs who did extra certification as a genetics
fellowship, or maternal fetal medicine specialists who did this. There’s a few reproductive endocrinologists.
Everybody is certified in clinical genetics, and then several people have another specialty
that they’re certified in as well. And then I just wrote that, you know, this
is just very cumbersome, right. The ABMG has a certain way of doing MOC. ABOG has a different
way of doing MOC. ABOG will never accept anything that the ABMG does. ABMG accepts everything,
pretty much, that ABOG does. But it’s very labor intensive for the office, the ABMG office,
to do this, and there’s really no sort of national standards for how to integrate different
boards for the use of MOC. There was an initiative to have an OB-genetics
residency program that is do two years — in order to do a genetics residency you have
to two years of a ACCME-accredited program, and then you can start a genetics fellowship.
We’ve had no graduates, no trainees ever. And Mimi thinks that’s because it’s very difficult
to integrate into a surgical specialty, that it’s just too hard, and that, for the most
part, people that are board certified who have an OB-GYN degree do something that’s
not surgical, like maternal fetal medicine or endocrinology. It’s just this hasn’t turned
out to be a very viable approach. For the board, I looked at what’s incorporated
into written and oral board exams. So for OB-GYN you have to pass a written board exam,
and then you have to take an oral exam. And so I looked at what’s incorporated into that,
and it all looks, right, when you look at sort of the subtypes of these topics, it all
looks very reasonable actually. When I looked at the CREOG, the Council of Residency Education
and OB-GYN, what their curriculum does, that is what residency directors are supposed to
incorporate into residency programs looks totally reasonable, but I would tell you that,
you know, that means I’m doing it, because I think that, at least in my generation, the
physicians that are teaching residents don’t know enough about any of this stuff. And I
can tell you honestly that in Utah I do a CREOG boot camp for a couple of days before
they take the board exam to go over a lot of this material so that they are somewhat
up to date. So I think everyone’s [inaudible] integrate that on the ground level. I’m not
sure how that gets done. It [inaudible] OB-GYN residency in Utah. And so I did something different with Gene’s
request. I said, well, what — he said, you know, what do you want to do for the next
10 years? And I think there’s sort of three issues. One is the Meaningful Use Family Health
History initiative. I’m going to talk a little bit about that. Many of you probably know
more about that than I do, but I think [inaudible] our groups with information about what family
health history is going to mean with regard to meaningful use. I think telehealth is a
very important way to go here as a way to standardize nationally what people hear. I
mean, in my state, and Marc very well knows, you know, Utah has very sophisticated care
in very urban areas, and then there is nothing for hundreds of miles in little, tiny hospitals.
And there’s no way to standardize medical care in the state. And I think that patients need electronic
education tools that part of this is focusing on what doctors need [inaudible], but I think
if patients came in more prepared — that’s not everybody, but that would certainly handle
[inaudible] fair percentage of people to come in with the right questions answered about
their family history or some reading before they came in that was vetted and reliable.
I think that is very important. So, with regard to education tools, I think
what that means is standardizing genetic information, extending what’s available with regard to
genetic counseling. Like Intermountain Healthcare has an Intermountain Moms Facebook page. We’ve
done a whole bunch of stuff for them. There’s many initiatives about office iPads to integrate
genetic family health history into clinical decision making. And I think this is just
a very important piece that arming patients [inaudible] arm physicians eventually. With regard to meaningful use, I don’t know
where you guys are, but we’re getting dinged if we don’t fill out certain requirements
now with regard to meaningful use. And for the electronic health record, the goal, I
believe, of meaningful use is to standardize electronic information between different health
systems. [inaudible] standardized, then you can move and so on, and your information is
not changed, and people can understand what they’re talking about in a very standardized
way. It means that these electronic health vendors have to meet national guidelines,
and this information [inaudible] in everybody’s electronic health records so that information
is standardized. And meaningful use has a family history initiative that starts in 2014,
and it means that doctors will have to enter family health history if your health system
chooses this as one of the possible options in the meaningful use format. So there’s several core things they have to
include. This is not a core requirement, and some smart people are telling me this may
be a core requirement for 2016. And basically SNOMED, there’s pathologists here, right,
who have standardized what information goes into the family history part of the medical
record, and it’s based on an informatics platform called HL, or Health Level 7, and I’m sure
many of you know more about this than I do, but this sort of standardized information
is going to include family history very soon. And so my understanding is that in 2014 this
will be a menu item but not a core requirement. And if it’s chosen as part of your health
system’s requirement, then greater than 20 percent of all your unique ambulatory or in-patient
patients will have to have a structured data entry for one or more first-degree relatives.
And so I think one of our initiatives at the college will be try to help doctors understand
how to do that and to do it well, because this is all really great, but if it’s not
valuable information, or it’s made up, or patients don’t really know what they had,
it’s meaningless. So, you know, my hope is that we’ll be able to do some of that. And
since it may be a core requirement in 2016, I think it’s something that we all have to
think about. With regard to telehealth, for a state like
mine it would be huge if we could do telemedicine for genetic counseling because we can’t travel
to these little, small towns all over the state of Utah. And Medicaid, as I understand
it, is now paying for telehealth, which hopefully will open the door to other third-party payors
to pay for telehealth, which I think is a very important initiative for the next few
years. And so — this is my last slide — for future
planning, I think, to answer Gene’s question, I think these are the things that are important
to think about in a very concrete way: Telehealth; arming docs to understand what to ask with
regard to meaningful use; continuing emphasis on home education activities or electronic
activities so that patients bring in, understand what is going to be asked in the office, and
have brought in the correct information; and then also for us is the more rapid development
of committee opinions for national dissemination with continued joint statements for other
guidelines to decrease confusion and make things easier for our physicians. So I think
that’s my last slide. Teri Manolio:
Great. All right. Thank you. Nancy Rose:
Yeah. Teri Manolio:
Comments? Nancy Rose:
Okay then. Teri Manolio:
Oh, no, no, no. No. Okay, so we have David and Robert — Bob. Okay. David. David Bick:
So, you know, one thing — I’ve been sort of involved personally in the OB side, being,
believe it or not, I do a lot of chorionic villus sampling. Nancy Rose:
Okay. David Bick:
I’ve done many, many for 10, 15 years. Nancy Rose:
Wow. David Bick:
One of the things — Male Speaker:
[inaudible] David Black:
[laughs] Well, actually when I was back in Virginia I started doing that and I’ve probably
done in excess of 10,000. But what it’s allowed me to do is really get to see the OB side
of things, and my opinion of obstetricians is that they are much more involved in genetics
than a lot of the other specialties like internists because that’s sort of a natural connection.
And so I — so, in some ways, the OB community, I think, is ahead of the curve in certain
ways compared to other specialties because it’s become part of their practice. I don’t
know any OB who’s not involved in CF screening. Nancy Rose:
Well, I’d say the whole state of Utah is not involved in CF screening, right, Marc? [laughter] I mean, it’s a tough thing. I mean, that’s
— I mean, when I left Philadelphia, I mean, everybody screened, right? But in Utah, very
tough, because no one considers that a disease. And you know, it’s in part of newborn screening
now, so it’s very hard to change. I think one of the very interesting things
about OB/GYNs is — in obstetrics, anyway — docs will take a family history at the
first visit, and then they will completely ignore it. It will never be looked at again.
So if someone has a hypercholesterolemia history, you know, you can’t really test for that during
pregnancy because the values don’t matter, but after pregnancy, they never look at it
again. Or if someone has a real BRCA family history, you know, they don’t really want
to deal with that during pregnancy, but then they don’t deal with it again. And so it’s
a — I mean, I agree with you, but I’m not sure that they act on it quite as well as
they should be. So. Marc Williams:
Bob. Robert Saul:
Regarding your last lament about the difficulty in terms of getting guidelines, or practice
opinions, or whatever out in a timely fashion — Nancy Rose:
Yes. Robert Saul:
I wonder if that’s not a universal thing, and I wonder if some of the professional societies
shouldn’t be looking at ways just to — every society’s going to do their own thing differently,
but everybody I’ve talked to from American Academy, ACOG, and listening to other societies,
too, it seems like there could be some unification of effort to figure out ways to do this better
than everyone reinventing the wheel. Nancy Rose:
I totally agree. And then, you know, there’s one opinion. And I think that really, really
would help. It’s much less confusing. Robert Saul:
I think the opinions can even stay separate if they want to. I just think the mechanics
can also — we could make tremendous inroads if we just thought through a bit easier ways
to mechanically get through the process. Nancy Rose:
Yeah. That’s sort of above my level, but I agree with you. I mean, sooner is better.
And you know these things are — they’re hard to write, too. But then when you’re done,
it’s got to go through another six months, and that you have no — at least from our
— on the ground no control over, right? You’re absolutely right. Marc Williams:
Yeah. So I think one of the things we should potentially think about as an outcome, and
I don’t know that it will be ultimately determined as a part of the purview of what our action
items will be, but it seems to me that the issue that you’re bringing up, Bob, really
relates to one of, is there some way to facilitate a shared infrastructure related to guideline
development as opposed to each of us doing our own — having our parochial ways of dealing
with things. And I understand the reason for that, is because when your society puts out
a professional guideline, you know, you’re the one that has to answer to your practitioners.
And with the SMA example that Nancy pointed out — Nancy Rose:
Oh. Marc Williams:
— ACOG would have been beset upon with pitchforks and torches had they, you know, had they supported
what the College of Medical Genetics and Genomics decided was, you know, what our consensus,
you know, arguably with few of our members were directly involved on the frontline with
that. But, you know, I think it is an issue that if there were to be some mechanism that
could be created that would be sort of a meta-society that could adjudicate some of this things
and at least reduce some of the barriers, then, you know, a place where people could
propose joint guidelines and where there could be representation — it’s a conceptual idea
that we may or may not want to act on, but I think that’s what we’re trying to get at. Nancy Rose:
It’s important. Absolutely. Yes? Marc Williams:
Sandra. Sandra Swain:
And along with that we really do have to have outcomes, and this is a discussion we have
all the time for. As I mentioned we have NCCN guidelines in oncology, which is another group,
and they are consensus-based, but they have no outcome data. They have hundreds and hundreds
of pages of guidelines, which many, you know, people in the academic community have contributed
that by their expert opinion, but there’s — you know, they’ve lost that ability to
really correlate it to outcome. So I think that’s critical that we look at that. Marc Williams:
Thank you. We’re going to make an adjustment to the agenda. Everybody has been so phenomenally
efficient in terms of both their presentations and the question-and-answer period that we’re
well ahead of schedule. But I think that there’s some real rich opportunities for group discussion,
and so what we’re going to propose to do is to actually have Erin Ramos from Genome present
on the clinically relevant variant resource prior to the break. We’ll then take our break,
and then we’ll have — we’ll reconvene at the same time and we’ll have a little bit
of extra time for discussion. And if that is efficient, then we may well let you all
out early, which may be unprecedented. Before Erin starts, I want to thank the last group
of professional society presenters for, again, excellent presentations. Thank you. [applause]

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