A Scalable Model for Returning Continually Updated Genetic Results to Consumers and Clinicians

Hello, everyone. My name is Carol Weil and I’m a program director
in the Cancer Diagnosis Program at the National Cancer Institute, National Institutes of Health. Welcome to our May 2018 Enriched Forum presentation. The Enriched Forum is a speaker series we
started at the NTI five years ago to foster discussion about ethical and regulatory issues
impacting cancer research. Today I’m very excited to welcome Ellen Matloff
to speak with us about a scalable model for returning continually updated genetic results
to clinicians and consumers. A few logistics concerning our webinar. All lines have been muted upon entry and will
remain muted for the duration of the webinar. If you experience any technical difficulties,
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to the media viewer panel. You will be asked to enter your name and organization. Before I formerly introduce our speaker, I
would like to note that the views expressed in this presentation are those of the speaker
and not necessarily of the NCI. NCI’s invitation to speak does not constitute
an endorsement of any views, products or services with which our speaker is associated. Ellen Matloff is
the Founder and CEO of My Gene Counsel, a digital health company offering health care
interpretation to clinicians and consumers. She is also Assistant Clinical Professor at
the Netter School of Medicine at Quinnipiac University. Prior to that she served for 18 years as the
Director of Cancer Genetic Counseling at the Yale Cancer Center and Yale School of Medicine
where she recruited, trained and managed a genetic counseling team that tested and followed
over 6,000 families for hereditary cancer syndrome. Please join me in welcoming Ms. Ellen Matloff
to the Enriched Forum. ELLEN MATLOFF: Thank you Carol for the kind
introduction. Can you now see my slides? CAROL WEIL: No, we can’t. Just exit out of the full screen and then
just go back up to the file, edit, share. ELLEN MATLOFF: Alright. Fantastic. Well, thank you Carol for the king introduction
and for the invitation to speak about Scalable, Updating Return of Genetic Test Results from
2018 Forward. This is a very exciting and dynamic time to
speak about this topic. And I’ve been updating my slides up until
this morning because the field is changing so rapidly, as you’ll see in just a moment. As Carol mentioned I am a certified genetic
counselor and the President and CEO of My Gene Counsel. I’m also a member of the Genomic and Population
Action Collaborative. But have no other formal affiliations with
the NCI or with the NIH. And so let me start with this tragic story
of Elisha Cooke-Moore age 36. You may have read about her this October. She unfortunately had both breasts and her
uterus removed based on a mistaken genetic diagnosis. So as reported by many sites but by Turna
Ray at GenomeWeb, this patient was apparently told that she had Lynch Syndrome, which as
you know increases the risk for colon, uterine, ovarian and several other types of cancer. The patient actually carried a variance of
uncertain significance in the gene OMLH1, which can be associated with Lynch Syndrome
when there is a pathogenic finding or mutation in that gene. But a variance of uncertain significance is
a genetic change whose meaning is uncertain, meaning that we don’t know in patients who
have a VUS if that genetic change is pathogenic and could cause the disease or is completely
benign and puts them at no greater risk. According to the reports on this case the
patient was not offered genetic counseling and there are no genetic counselors in the
region of Oregon where she lives, although I should point out that genetic counselors
are available by phone in all of the United States and many countries in the world. And so we have a problem. And the problem did not come as a surprise
to me or to my colleagues, because we have been publishing on misinterpretation of genetic
test results since 2010. And, in fact, today we are closing around
for cases through the fourth publication in that series because misinterpretation of genetic
test results is unfortunately so common and it’s becoming more common. The question is why. Well, genetics as you know is a rapidly changing
field and involves thousands of genes. Clinicians currently have on average about
12 minutes per patient. And that includes a physical exam. There isn’t really time to also do genetic
counseling and testing in one of these sessions. The test results that most laboratories now
give out are not only long and technical, but they’re stagnant. Meaning that if you have genetic testing on
May 10th, 2018 and something in the field changes a month later, a year later, or a
decade later those genetic test results are not usually updated. We know that baseline there’s a high rate
of misinterpretation amongst clinicians and patients. And we’ve documented since 2010 that these
errors have led to unnecessary preventative surgery, as you saw in Ms. Cooke-Moore and
also patients receiving the wrong treatment. We’ve also seen patients who present with
late stage cancers because they weren’t offered either the right genetic tests or
any genetic test or genetic counseling. And we’ve also seen pregnancies that are
terminated because the mother is told that something is wrong with the fetus when in
fact it is not. Instead of ordering one or two genes, many
clinicians are now ordering panels that may include 20, 30, 40 or hundreds of genes, many
of which they’ve never heard of before. And that’s adding to the complexity. There are also large population genome studies,
here and abroad, involving thousands, tens of thousands, hundreds of thousands or now
even one million participants. And you can see that there’s a scalability
problem having all of those patients come into see a genetic counselor both pre and
post testing, unfortunately that’s not going to happen. In fact, soon 60 percent of the population
will be candidates for genetic testing. Keep this in mind, all pregnant women are
now candidates for genetic testing. All men and women considering a pregnancy
are candidates for genetic testing. Many people diagnosed with cancer are now
candidates for genetic testing, either germ line and/or schematic or on their tumor sample. We know that many people with a personal and/or
a family history of cancer or of early cardiac death or many other genetic conditions are
now candidates for genetic counseling and testing. And we also know that many more people will
soon become candidates for pharma code genetic testing, helping them and their physicians
decide which medications they will respond to most effectively. The genetic counseling workforce is understaffed
by 50 percent in 2017. Let me make it clear that in an ideal world
we would like every patient to either see or speak to a certified genetic counselor
both before and after genetic testing. But based on the number of people being tested
and the number of genetic counselors in the workforce, this is not possible. And we know that without this help many errors
are being made. So Houston we have a problem. And we need to think about the new solutions. The scope of the problem is that between 100
million and two billion human genomes will be sequenced by 2025. Virtually all clinical trials worldwide now
include genetic testing. In many countries researchers are already
having to return genetic test results to patients and families who request them because they’ve
had testing as part of a clinical trial. And we expect that the same recommendations
or suggestions will soon come to the United States. And these companies and pharmaceutical companies
and researchers currently have no way to return all of the test results to the people who
need them. We also know that most consumers do not receive
pre-test genetic counseling by a certified provider. And that the percentage of consumers who receive
post-test genetic counseling is unfortunately declining based on the numbers we’ve discussed. Add to that the majority of clinicians do
not have the time, expertise or desire to interpret genetic test results or to become
genetic counselors. For those consumers who do get to see a certified
genetic counselor they’re usually seen between one and three times and then never again. And so we dealt with this when I worked at
Yale that you would have a 25 year old patient come in and perhaps she tested positive for
a familial BRCH permeation (ph.). Her questions, her needs, and even her clinical
care and recommendations at age 25 are much different than they are at age 35 or age 45
or certainly age 55 or 65. And her risks change with each decade of life
as well. And the recommendations change. And yet fewer than five percent of those consumers
ever come back in for another genetic counseling session. We know also that knowledge and recommendations
change constantly. So let’s talk about a case in which this
is true. Williams versus Quest/Athena in which a child
developed multiple, intractable seizures. Genetic testing was ordered, apparently without
the parents’ knowledge. And a variance of uncertain significance was
found in a gene linked to Dravet Syndrome. But unfortunately this VUS was interpreted
as meaning the child did not have Dravet Syndrome. For that reason the child was treated with
a sodium channel blocker which is contradicted in children with Dravet Syndrome and unfortunately
and tragically this child died at age two. The mother learned of the result seven years
after it was performed and the lab reclassified the VUS as a pathogenic variant. And so if you’d like to read more about
this case there is excellent coverage in TheDNAExchange.com by Bob Resta and also by Turna Ray of GenomeWeb. But what this case points out is that genetic
information changes over time and that we need to have a way to recontact not only the
ordering clinician but either the patient or the patient’s parents when this information
updates. And so also in an article by GenomeWeb, Molika
Ashford reports Lab Confront Legal Risks Posed by Genetic Variance Classification. And so Athena’s initial lab reports didn’t
include enough information about what a VUS means for a non-geneticist to understand. Others questioned whether making sure that
clinicians fully understand genetic test findings is or can be the responsibility of the labs,
considering the ever-increasing volume of the tests being performed. I think it’s a two-way street between lab
and clinician. Anyone ordering this should know what a VUS
is or they shouldn’t be ordering it. However, those of us in the field know all
too well that people ordering the tests not only don’t understand the nuances of a variants
of uncertain significance, they often don’t understand a very clear pathogenic finding
or what it means when a patient tests negative. We’ve seen this and we’ve also seen in
several studies that clinicians treat a VUS the same way they do a pathogenic variance
in some syndromes, leading to additional surgeries that may be unnecessary in many patients. Does the responsibility rest on labs to make
sure that physicians understand the nuances of a VUS? Or is the responsibility of the doctor who
orders the tests to think critically about the result? The bottom line is somebody should have told
her, meaning the mother. The standards for variants that’s evolving,
but the standards of who communicates to who, that’s a lot more fuzzy. I’m not sure what they should be, but until
we figure it out, boy, we’ve got a problem. And so what I’m positing for you today is
that we need to provide tools that will help the laboratories, the ordering clinicians,
but also consumers understand their own genetic test results and keep up to date as those
things change. And so we’ve mentioned knowledge and recommendations
change constantly. And that the list of returnable findings will
change and increase over time. By returnable finding I mean incidental genetic
findings that are worthy of return to the patient and the patient’s family due to
their significance and potential medical intervention options for the patients and the family. And so this means that if you’re doing a
genetic testing for region A, but you find something else, an incidental finding you
hadn’t expected, but that finding could allow the patient and/or the patient’s family
to take an intervention that we should return those findings. Now the American College of Medical Genetics
in 2013 had 56 genes on the list of returnable findings. That has now risen to 59 and there are other
groups who are using even larger, longer lists of genes that should be returned. The question is what happens for people who
had testing today in May 2018 that we returned to them those incidental findings on this
list? What happens to them a year from now? Two years from now? Ten years from now when that list is done,
let’s say 68 genes long? Or that some genes fall off this list or are
added to the list. How do we re-contact those people and their
family members? Let’s add to this list of things to consider,
the direct to consumer or DTC testing is now playing a major role in return of genetic
test results. As you may now 23 and M was added to Oprah’s
Favorite Things List in 2017. And 23 and Me and Ancestry.com kits were amongst
the most common gifts ordered on Black Friday 2017. More than 12 million consumers have had direct
to consumer genetic testing from one of these companies and it’s projected that a year
from now it will be three times that number or more. Health care providers can no longer afford
to ignore direct to consumer genetic testing. And I wrote about this from my personal experience
that many of us in academic medical centers not long ago really considered this type of
testing genu-tainment, meaning this was entertainment genetic testing, something that people did
for fun. But what we now know is that people can not
only get the information from the direct to consumer testing company, but they can download
their raw data and have those raw data interpreted by a third party. And although not all of those findings can
be reproduced with a new DNA sample in a medical grade laboratory, a substantial number of
them can be substantiated and our real findings. And so we as health care providers are going
to have to learn to deal with these findings to discuss them with our patients and to incorporate
them into clinical care if they have been repeated and are confirmed. Some of you may have seen just yesterday that
Dark Daily issued a paper about consumers buying genealogy gene sequencing tests in
record numbers, some experts concerned data could be misinterpreted. Genetic counselors struggled to explain direct
to consumer genetic test data or to correct provider misinterpretation of results. While often were encountering resistance and
anger from multiples who don’t accept their counseling. So these are additional challenges we now
face. I would also strongly urge you to read this
article by Katie Stoll at the DNA Exchange that was published just last week about direct
to consumer testing for children. So several interesting things about this article. One, that people can order direct to consumer
testing for their children without their children’s consent, but that also not only the author
but several people she reported sent in DNA samples on their dogs and received test results
from one particular company that interpreted that DNA as human DNA. Perhaps even more exchanging the author, excuse
me more upsetting is that the author of this blog sent in a water sample and what she learned
is that boarded geneticist from the company signed out a report on a genetic test promising
to predict the athletic and learning abilities of a child from a sample of tap water. And so we now fall into a very murky category
that there are some direct to consumer testing companies that really are offering medical
grade genetic testing. There are other direct to consumer genetic
testing companies that are offering raw data, some of which is valid and can be validated
in a clinical laboratory. And then there are others that will sign out
a report on a genetic test on a sample of tap water. And so there really becomes another layer
of concern here in terms of consumers being duped and also in terms of consumers getting
accurate information about how worthy the genetic test that they’ve chosen really
is. And so there’s a new landscape. There are new challenges, there are new risks. And we need to be willing as a society to
move forward and to work within those parameters. We are at a point that it is no longer reasonable
to think that every person having genetic testing in any form will come in and see a
certified genetic counselor before their testing and after their testing. In fact, it’s not even reasonable to think
they’ll have a phone consult both before and after their testing, although that may
be the ideal. But what are the underlying principles, ethics
and tenants of genetic test return that we should stick to and move forward with? First of all, all consumers who choose genetic
testing. And I should say they should choose genetic
testing. We talked about a case in which the parents
didn’t even know their child had been testing. This should be a choice. When they choose genetic testing they should
be able to receive their genetic data in its entirety, share their genetic data, if they
so choose. You may be aware that there is some genetic
testing companies that will not release data, all of the data, either to the consumer or
they will not share their data in publically accessible databases. And, in fact, some of those companies are
even putting in the consent form for the ordering clinician, if the ordering clinician wants
to receive results via their electronic portal, they are saying that the clinician may not
share those test results in these open access databases. That needs to change. All consumers should be able to understand
and use their genetic data, which means we have to explain it to them in ways that they
can understand. This applies to every test result for every
consumer, whether it be a pathogenic variant or mutation, a variance of uncertain significance
or a VUS, or importantly a negative test result. This is the group of consumers in my opinion
who are most overlooked and underserved. They’re often the most challenging counseling
cases. Why? Consider a patient who has a strong personal
and family history of cancer or cardiac disease or fill in the blank and on whom you’ve
ordered genetic testing and you can’t find a pathogenic variance. So basically you can’t figure out why that
person has a strong personal and family history of disease. They come back negative. That person still has the personal and family
history of disease. You haven’t explained why they don’t. They’re the least likely to receive genetic
counseling and they’re often presumed average or low risk is very dangerous in the context
of a personal and family history of disease. I’ve been perplexed and also upset that
some of the leading researchers in our field are proposing population studies and saying
that the only people who really need genetic counseling or genetic information in any form
are the people who have a pathogenic variance. That is simply untrue. Everyone who has genetic testing has a right
to that information. The source of that information, in my opinion,
needs to be an unbiased third party, someone who is not selling genetic testing, not selling
drugs, supplements or vitamins and will provide the risks, the benefits and the limitations
of the testing that is being offered or has been offered and will also let that consumer
know how worthy that test result is. Clearly not all of the sources of genetic
testing are going to be able to provide that, because there is an inherent bias; they work
for the company. Now let me be clear. Am I saying that certified genetic counselors
and professionals who work for a genetic testing company cannot provide any useful information
to patients or providers? Absolutely not. Those counselors, many of whom are at the
top of our field provide important critical information to clinicians and to patients. However, those patients and clinicians also
need to have an ongoing source of information that is not tied to the genetic testing company. Consumers should be central to the process,
involved in creating and improving the information, involved in creating and improving the process
and they should be able to receive information and invitations directly. We are used to a medical system where all
sorts of clinical trial invitations and information is only passed down through the health care
provider. We’re moving into a new area of health care
in which the consumer and the consumer’s family must be central to that information. They must receive it as well. The data must be secure, safe and in a HIPAA
compliant environment. And in terms of ideal return of genetic test
results I would posit the digital genetic counseling information for every patient and
consumer having genetic testing is the gold standard toward which we should be moving. Why? Because it’s scalable. It can also be device agnostic and easy to
use. And importantly it can be revisited at any
time and over time. Any genetic counselor or physician or health
care provider will tell you that when you provide a patient with news, particularly
if it’s surprising news or bad news they often hear that sentence and nothing else
you say that day. They need to be able to go back in the privacy
of their own homes and revisit that information and see how it changes over time. That information should be linked by gene
and variant. Why? Because genotype phenotype correlations will
become more common in the future and we need a way to re-contact subsets of patients. We used to stand in front of our filing cabinets
at Yale with thousands and thousands of patients and the NCCN would change their guidelines
and we would be thinking how in the world are we going to screen out exactly who carries
the gene at hand, what their age is, whether they need this information and how to contact
them? It’s almost impossible. And EMRs have really not helped. We need to have information for the consumer
and also understandable information for the clinician. I’ve now taught at medical schools for more
than two decades and I can tell you that often have a 45-minute lecture on cancer genetics. That’s it. That’s what the student gets in terms of
cancer genetic counseling and testing. This information needs to be updated with
new studies as we move forward. And as the new data unfolds clinicians who
have a patient with that result as well as the patient who has that result needs to be
alerted via email or text. We also need to provide referrals to certified
genetic counselors either in person or by phone for those patients who need it or want
it. And payers are now seeing that this is in
their financial best interest and also in their interest of their covered to provide
these services. Interestingly for many of these consumers
this will be the first time they’ve ever heard of a genetic counselor a genetic counseling
service. Patients can receive private invitations to
research studies while protecting their PHI. We have many new challenges. And, in fact, many of these challenges have
unfolded just over the last few weeks. One of them has been the privacy scandal at
Facebook. I think this has made many of us aware that
even the most technologically savvy in the world can have data used in ways they’ve
never intended by people they’ve never intended and really the importance of informing consumers
how their data will be used, but also protecting those consumers and protecting those data
has never, that has never been more important. WE also learned a lot from the Golden State
case. And as many of you know this was a serial
murderer and rapist who left DNA samples at crime scenes in the 1970s and 80s. Those DNA samples were preserved, were sent
for genetic testing and the test results were uploaded to a genealogy site. And based on that site, the detectives in
this case were able to determine the relatives of this suspect and they were able to, through
the branches of his family tree, trace this suspect down, wait until he abandoned a DNA
sample in a public space, they then tested that DNA sample and mapped it. So this is a DNA victory, right? I think it is a DNA victory. But this case kept me up all night. It kept me up because I was thinking of all
the ways that public sharing of family trees and also of either DNA samples or DNA results,
how that information could be used for family members in ways which they had never consented,
in which they’d never imagined. We need to give a lot of thought to this. Some medical centers and genetic testing companies
are actually asking consumers to provide them with the name and/or email addresses and/or
THI on family members who may be at risk. There are pros and cons to this approach. One of the pros is that you may learn that
you’re at increased risk for a genetic condition and you may have the opportunity to choose
genetic testing if you so wish. And many of us have written, myself included,
on what happens when genetic information is not shared within a family and it can be tragic
and deadly. However, this also means that your family
members could be sharing information about your risks with genetic testing companies,
with health care providers, it could be in their electronic medical record with your
name and your PHI without your consent. This is something we need to give a lot of
thought to moving forward. And so with all of these challenges just looming
over us in the last few weeks, the All of Us study is of course recruiting a million
participants. We are going to need to give a lot of thought
about how we will protect the data, make consumers and participants feel safe being part of this
study and also how we are going to allow everyone in this study to really understand what testing
is being done, what their results are, what their results mean, how they can share their
results with their providers and how their results will be kept safe. Those are some of the major challenges ahead
of us. And so you can see that this is a very exciting,
ever changing world in genetic test results and sharing those genetic test results with
consumers and with clinicians. I look forward to hearing your questions and
comments and to working with you toward a solution in the next decades. Thank you. CAROL WEIL: Thank you Ellen so much for a
very provocative presentation. And now I would like to jump into questions
from our audience. And once again to remind those of you who
may not have submitted as yet to submit a question you can use the Q&A feature on the
right side of your screen. Just type in the question and select the option
to send to all panelists and hit submit. FEMALE: So our first question for Ellen is
asking whether you could comment on the cost and challenges to legitimate laboratories
that are reviewing prior DNA test results on a regular basis if the prior results now
have a pathogenic condition? And what would be a reasonable interval for
review? ELLEN MATLOFF: Can you repeat the last part
of that question, please? FEMALE: Sure. I think the overall idea is of reanalyzing
the test result. So can you comment on the cost and challenges
of that what’s a reasonable interval for re-review if you’re going to … if you’re
expected to go back and look at those results and give if the interpretation has changed? ELLEN MATLOFF: So that’s a big question. The costs about what we review and what the
interval should be and how often we should be looking at those results. FEMALE: And the challenges to the laboratory. ELLEN MATLOFF: And the challenges to the laboratory. I guess one of my thoughts about this is that
there are now so many laboratories offering genetic testing, both medical grade laboratories
and direct to consumer laboratories that if every single laboratory is tasked with staying
up on these genetic test results that really this will only be possible and scalable and
financially achievable by a small number of laboratories. And that’s probably not the best way to
solve this. It’s probably best to solve this with the
help of a third party unbiased company that is on top of this on a daily basis and who
makes this submission. And so I think rather than doing this one
lab at a time that perhaps we ought to come together and pool our resources and work together
on a scalable solution. CAROL WEIL: So Ellen while we’re triaging
the questions I’m going to ask a question also. It seems that your view is that consumers
and patients should be entitled to receive even variance of uncertain significance when
laboratories come up with that kind of a finding directly. In other words that data is something that
should be communicated directly to the patient. And so what I wondered was whether you have
any data either that you compiled or maybe just anecdotally from your experiences working
with patients with hereditary cancer symptoms, whether when people have access to that kind
of information it empowers them to keep up with the literature and actually do their
own job of trying to keep abreast of developments and to find out whether or not there is any
new information that’s relevant to their particular clinical situation? ELLEN MATLOFF: So Carol to paraphrase I think
you’re saying should we return variance of uncertain significance to patients and
is it possible or have I ever seen patients who are able to kind of keep up with the changes
in the VUS realm? And my answer is that I think that test reports
can be worded in such a way that if there is nothing pathogenic found that is reported,
but that variance of uncertain significance can also be noted within the lab report or
certainly if patients request all of their laboratory data that that data is made accessible
to them. Now a great deal … in terms of whether or
not that will concern the patient or whether the patient will understand that a lot of
that has to do with the presentation. And I will say that one of the advantages
of the patient seeing a certified genetic counselor both pre and post-testing or at
least post-testing is that genetic counselors are trained to explain those uncertainties
to patients. But we can also tie those uncertainties into
a scalable digital report so that customers can understand that information. In terms of whether those consumers on their
own cannot only understand what a variance of uncertain significance means, but keep
up on whether or not there’s enough data to reclassify their test result. To be honest I think most physicians and nurses
can’t do that. So I certainly don’t think that that can
or should be placed in the lap of consumers. I think we need to provide them with tools
that will update them when something has changed and that will go not only to the clinician,
as many of those reports do now, even though some of those clinicians have retired, they’ve
moved, they’ve died, or the patient has moved to a different center. And what we found is that some of those patients
never get those updated VUS results. And so reaching out not only to the clinician
but to the consumer is really what makes most sense now. FEMALE: So we have another set of questions
that are related. So it sounds like what you’re suggesting
is a shared online resource that could be used by all clinicians and all hospitals or
clinical facilities. Or maybe something like a consumer digital
results site that’s centralized for everybody to access. Is this generally what you’re getting at? And, if so, how do you propose that we make
this come to life? Like who would build it? And would clinicians and companies be interested
in something like this. ELLEN MATLOFF: Hmm. So one of my challenges today is that as I
mentioned in my disclosure I’m the President and CEO of My Gene Counsel. But this is not an endorsement or an advertisement
for my company. So I’m talking to you today about ideas and
concepts that we considered but I’m really not at liberty to discuss in greater detail
in this forum. Is that correct, Carol? CAROL WEIL: Yeah, I mean, I think if you want
to talk about private sector solutions generically, I think that would be fine. So if that is the point that you are making,
if this would be something funded independently I think that’s completely fine. ELLEN MATLOFF: Okay. I do think that this is a private sector solution. And let me acknowledge my bias here. But the reason I think it belongs in the private
sector is that it needs to be third party unbiased and it can’t be segmented to that
every laboratory creates this for themselves. And we need to be able to provide a service
that says hmm, the laboratory you’ve used has shown that tap water has DNA and they’ve
reported results on tap water. Like we need to be able to provide some of
this information that those laboratories aren’t going to provide. And so I do think that there is room in the
private sector for this solution and I can tell you that there is great interest in the
solution amongst some of the genetic testing laboratories, the third party interpretation
tools, payers as well as pharmaceutical companies who realize that they are going to need to
be able to return the results from clinical trials and also consumers. So consumers will be able to access this as
well. CAROL WEIL: So if I can just push you on that
a bit. Is it your sense or vision that this would
ultimately be something that would be covered by insurers and so if it were determined that
a lab result needed to have some quality testing or additional confirmatory testing that this
would be something that would be a part of our covered health plan moving forward? ELLEN MATLOFF: Two things there, yes, I do
believe that payers will find it in their best interest to not only cover genetic testing
for people who need it, but to insure or to increase the odds that both the patient as
well as the clinician understands the test results and that they receive updates when
updates are available. I should also add that for patients having
direct to consumer testing we’re now in discussions with payers about the benefits
of payers to actually pay for confirmatory testing in a medical grade laboratory, so
that if a consumer has in their hand data from a direct to consumer testing company
that could be crucial to their management and the management of their family member
that we can get payers to pay for that confirmatory testing and that there are some laboratories
that are really offering reasonable rates for that confirmatory testing. FEMALE: This might be a related to all this
interpretation. As you said there’s a 50 percent shortage
of genetic counselors and we’ve been hearing about the need for genetic counselors for
decades and they might be behind a professional who could fill the space. So the Harvey Institute (ph.) has a wait time
of 30 months to see a clinical adult geneticist. So what’s being done to address this shortage
of genetic professionals, genetic counselors and geneticists included? ELLEN MATLOFF: Well, I can tell you that the
training programs are now taking more students. There are more and more training programs
opening. And there are many qualified students who
are going into genetic counseling. I know less about what’s being done to increase
the number of medical geneticists. But for people who need these services, we
have not only in person counseling, but there are many reputable companies that now offer
phone counseling and the wait times are not long for those companies. Many payers are not paying for this phone
counseling as well. And so I think we need to take advantage of
those resources. At the same time, we won’t be able to if
it’s not scalable or affordable for every participant either in a clinical trial or
in a study like all of us or even really anyone who’s choosing direct to consumer testing. It won’t be scalable for them to also have
genetic counseling by a certified genetic counselor and so we need to be looking to
a digital solution in conjunction with genetic counseling. FEMALE: And so when you say a digital solution
you mean delivering information directly to the patient or consumer and then allowing
the patient to get genetic counseling after receiving that information directly? ELLEN MATLOFF: There are two ways it can be
used. They can see a genetic counselor just like
in the old school model, both pre and post-testing or just post-testing and then the digital
solution can help them stay updated. So if they see that genetic counselor in May
2018 but there’s something new, a new breakthrough, a new change in recommendations that happens
two months later, it’s the digital solution that will keep them updated and keep the clinician
updated. There are also some people who won’t see
a genetic counselor, and I mention to you that many people receiving a “negative test
result” get no genetic counseling, which is really problematic. And so this is an option for them to receive
that information in a digital form as well. FEMALE: So we have a question about education. So do you foresee the possibility of labs
coming together to produce educational materials that address some of these misconceptions,
materials for the public, patients, clinicians, etc. And what attempt would be made to ensure that
these materials are up-to-date given the changing information as you mentioned? ELLEN MATLOFF: So many of the laboratories
already provide really excellent information for patients and consumers. I’ve read many of these materials. I think many of them are excellent. But, no, I don’t think that’s the solution. I don’t think that we should be asking the
people who sell the genetic test to provide the information. Just as we would not ask a pharmaceutical
company or we wouldn’t ask a patient to turn to a pharmaceutical company to find out
which medication they should be taking. We can all see the inherent bias in that approach. The inherent bias is the same in terms of
genetic testing companies. They should not be producing the information
long term. FEMALE: So then who would be in charge of
this oversight? What body in this area would you see as having
the responsibility for making sure … if not the companies that are providing the testing? ELLEN MATLOFF: And so this is why I think
there are solutions in the private sector that need to be really utilized. And in terms of oversight we don’t even
have good oversight for all of genetic testing itself, as you can see from the dog saliva
samples and from the tap water samples that are being tested. And so I really don’t think that if we don’t
have that oversight right now for genetic testing I think we may be getting a bit ahead
of ourselves to think that there’s an oversight body for the material. CAROL WEIL: Do you see this as an area that
the FDA is going to increase its enforcement over? ELLEN MATLOFF: And so again we know that the
FDA has taken some steps with some of the direct to consumer testing companies, but
it’s backed off in other areas. And so I think what we really need to take
a look at is is there any oversight that should be available to consumers in terms of genetic
testing. That’s probably the first area that we should
examine. FEMALE: So we have a question about clinical
research. So patient advocates often stat that the participant
has the right to receive their test results directly, not facilitated or managed by their
health care provider who may or may not be qualified as you talked about. Can you comment on the pros and the cons and
the risks and benefits of clinical researchers giving this genetic test information directly
to participants? ELLEN MATLOFF: So let’s keep in mind that
we’re talking about research and we’re not talking about medical grade testing which
is already really directly to consumers, because through the Health and Human Services Act
a couple of years ago all consumers now have access to their own laboratory data. We already know that. In the context of a research study I do think
there are more grey areas because the information being given back to participants hasn’t
been validated as part of a research study. But to entice participants to be part of research
studies many of these well-educated participants want their data back. In fact, one of the mantras is give me my
damn data, they want their data, it belongs to them. And so we need to come up with creative ways
to provide them their information, but to also let them know the caveats of research
information and that that information would have to be validated in a medical grade laboratory
in order to really take action on those data. And genetic counselors are really uniquely
positioned to provide that kind of information and that’s why in the private sector many
of us are using the knowledge of genetic counselors to drive these tools forward. FEMALE: I guess this is a good way to close
out a nice talk, you mentioned the private sector as a potential solution, but another
question we got is what, if anything, can I do to help address the challenges of updating
patients and consumers and health care providers over time and to develop saleable third party
interpretation? ELLEN MATLOFF: I think the NIH can partner
with some of the people providing these solutions in the private sector and make grants available
to them. That would be something that they could do,
rather than building it themselves, which is probably not sustainable. Partnerships I think would really make sense
in this realm. CAROL WEIL: We have just a couple more minutes. I wanted to ask you a question that really
plagues us, particularly in the cancer field, which is the issue of germ lines, confirmatory
testing from tumor panel results, particularly when the initial test is a research grade
test and how to follow up with that. Do you have any thoughts about sort of policies
or good operational principles to guide us in that domain? ELLEN MATLOFF: I’m so glad you asked about
this. So for participants in the audience the question
is when we do testing on a tumor sample, so this may be a sample from let’s say a breast
tumor or a lung cancer and we do genetic testing on that tumor sample, and we find a genetic
test result that might mean that that patient actually has a germ line mutation, meaning
that that mutation and most of the cells of their body which could put them at risk for
other cancers and which could their family members at risk, what are we doing about that? My concern is that quite often that information
is not filtered back to the referring clinician or to certainly the patient and the patient’s
family. Too often the clinician is busy treating the
patient and thinks they don’t need one more thing on their plate or quite frankly the
clinician doesn’t understand the results. And so we have been working with some of the
companies that do interpretations for tumor testing to make sure that the germ line information
gets back to patients and to clinicians and that if the patient dies in the process that
we can get this information back to a family member of their choosing. That is a critical, critical issue as the
Personalized Medicine Initiative moves forward. CAROL WEIL: Okay. Ellen thank you so very much. I want to be respectful of everyone’s time
and we are coming up on one o’clock. So I would like to say again, thank you to
Ellen Matloff for a very inspiring presentation. And we look forward to you joining us at the
next Enrich Forum. Thank you very much. (END OF FILE)

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