>> Please note today's session is being recorded.
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Hello, everyone.
This is Jordan Thompkins [assumed spelling], and on behalf of the National Cancer Institute
and the Research to Reality team, I would like to welcome you to our March, 2017 cyber
seminar, Expanding Lynch Syndrome Screening through Research to Reality.
Research to Reality is NCI's online community of practice that provides a space for cancer
controlled researchers and practitioners to learn, discuss and collaborate.
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of your screen.
Type in your question and select all panelists before hitting submit.
Feel free to submit your question at any time, and we will open the floor for our presenters
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Each presenter will speak for about ten minutes leaving us with plenty of time at the end
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You can request slides after today's presentation by emailing us at researchtoreality@mail.nih.gov.
I think that takes care of my housekeeping so let's begin.
Today I'm delighted to welcome all our presenters, Dr. David Chambers, Ms. Heather Hampel, Dr.
Greg Feero and Ms. Debra Duquette.
Dr. Chambers will reflect on the NCI hosted workshop approaches, the blue panel recommendations,
the [inaudible] syndrome that took place in late February.
Then we'll jump into three engaging presentations and current work being done related to Lynch
syndrome screening practices.
So without further adieu, David, the floor is yours.
>> Thanks, Jordan.
Thanks, everybody for joining us.
Of course, March is Colorectal Cancer Awareness Month, and we thought that this would be a
good chance to reflect on some great work that our speakers are doing as well as the
recent events that we at NCI have been engaged in.
Lynch Syndrome, which confers a much, much higher risk of colorectal cancer, endometrial
cancer as well as other cancers have had a number of different reports surrounding it
that have advocated for enhanced screening particularly for those with colorectal cancer
and their relatives.
For example, in 2009, the EGAP, Evaluation of Genomic Applications in Practice and Prevention
did a review where they found that screening would be a benefit for relatives of colorectal
cancer patients who are diagnosed with Lynch Syndrome, and so the ability to cascade from
that initial proband who has colorectal cancer to other relatives was seen even those many
years ago as being a benefit.
The next year in 2010, healthy people 20/20 identified as a goal trying to increase the
proportion of diagnosed colorectal cancer patients who were tested for Lynch.
And when the moonshot that was kicked off last year has a broad way to think about how
can we advance cancer care and research was initiated.
The followup activity for the National Cancer Institute was the convening of a blue ribbon
panel, which would be a set of experts who would get together and think through what
are the true next steps that we should take for cancer research to make as large an impact
as soon as possible on our knowledge of cancer and what we can do to try and reduce the cancer
burden overall?
One of those seven work groups that got together focused on precision, prevention and early
detection.
And they proposed as part of their work group discussion the idea that demonstration projects
potentially around Lynch Syndrome could improve the identification of those with this syndrome
across the U.S. and that we might want to think about the various aspects of what it
would take to scale up that kind of screening to the higher risk population who might be
able to benefit if that identification of Lynch Syndrome had happened.
The blue ribbon panel gave their report to the NCI last fall and our colleagues both
within the Division of Cancer Prevention and the Division of Cancer Control Population
Sciences pulled together a workshop last month, February 22 and 23, to really think about
hereditary cancers overall and what can we learn from the case of Lynch Syndrome.
At this two day meeting, there were a wide variety of topics starting with the biological
basis of Lynch Syndrome and then thinking about what does implementation need to look
like across all different heath systems in the communities?
And we were particularly fortunate to have the three speakers who were going to follow
me to share their expertise and their experience at the meeting.
They and others at the meeting gave the National Cancer Institute a lot to think about as it
consider next steps, and we wanted to make sure that you had the same chance to benefit
from Greg, from Heather and from Deb's expertise as we did.
So I'm going to turn things over to Heather, and just thank all of you for joining us,
and we'll look forward to a great set of presentations.
>> Hi, everyone.
It's really exciting to be here.
I am looking forward to talking to you about some of the work we've done at Ohio State
on universal tumor screening for Lynch Syndrome, which is a way to identify as many patients
with Lynch Syndrome as possible by doing a screening test on the tumor when a person
undergoes surgery for their cancer, and the tumor is sent to the Pathology Department.
We'll start with just some basics about Lynch Syndrome.
It's the most common inherited cancer syndrome in the world, affecting over 1.2 million individuals
in the United States alone.
It's an inherited condition that causes high risk for colorectal cancer, endometrial cancer,
stomach cancer, ovarian cancer and several other cancers.
The main cancers associated with Lynch Syndrome are really preventable with earlier and more
frequent screening.
For example, starting colonoscopy at age 20 to 25 and repeating it every one to two years
has been shown to be extremely effective at preventing colon cancers among individuals
with Lynch Syndrome.
But the key is identifying those individuals so they can benefit from that screening.
And this is where the problem lies because we estimate that 95 percent of people with
Lynch Syndrome are not aware of their diagnosis.
A lot of our efforts including our efforts on universal tumor screening for Lynch Syndrome
are trying to help close this gap so that people out there who have Lynch Syndrome can
get identified and benefit from this increased screening.
So there's something unusual about Lynch Syndrome that allows us to do screening in the Pathology
Department, and this really is actually lucky because this is not something that we can
do for other hereditary cancer syndromes.
For example, with the BRCA1 and BRCA2 genes that are responsible for hereditary breast
and ovarian cancer syndrome, there aren't readily available tumor tests that can help
diagnose patients with the condition.
So the interesting thing about Lynch Syndrome is that it's caused by mutations in a family
of genes that are known as the repair gene.
And when those genes aren't working properly, it leads to a characteristic in the tumor
called microsatellite instability.
And this is just a sign that repair is not working.
This test is positive for about 15 percent of colorectal cancer patients and about 24
percent of endometrial cancer patients and identifies a group of patients that are more
likely to have Lynch Syndrome.
It's not diagnostic because not everybody with microsatellite instability has Lynch
Syndrome, but it is a screening test to tell you who's more likely to have it.
There's also very good antibodies for the four proteins that are made by the Lynch Syndrome
genes and so if those Lynch Syndrome genes are working properly, those four proteins
will be present in the tumor, and if any of those genes are not working properly possibly
because the person was born with a mutation in that gene and has Lynch Syndrome, then
that protein will be missing in the tumor.
And this image you see on the left side of the screen is an example of that.
Here you can see nice brown nuclear staining of MSH2 and MSH6 but absence of MLH1 and PMS2
which indicate that there's a problem potentially with the MLH1 gene in this patient.
Could be Lynch Syndrome.
Could be something acquired but again it's identifying a group of patients that are more
likely to have Lynch Syndrome so that you can follow up with those patients and offer
them genetic testing, which would actually confirm the diagnosis.
So neither of these screening tests confirm the diagnosis.
They just identify patients more likely to have it.
This has become very important in the last two years because it turns out any patient
with colorectal cancer or endometrial cancer for that matter who has this microsatellite
instability characteristic in their tumor seems to really benefit from immune therapy.
New drugs targeting anti PD1 or anti PDL1 have been shown to be very effective in patients
with microsatellite and stable tumors.
So this is something that a lot of oncologists would like to know for their patients for
treatment purposes as well.
So these tests form a dual purpose.
One, identifying patients who are more likely to have Lynch Syndrome, and two, identifying
patients who are more likely to benefit from immune therapy.
We did a study in the city of Columbus back in 1999 through 2008 where we were first trying
to show that in the United States you could actually do the screening test on all newly
diagnosed colorectal cancer and endometrial cancer patients and that it was even feasible
that patients would agree to do it, that we could find patients with Lynch Syndrome and
this is some of the earliest work in universal tumor screening for Lynch Syndrome, which
I'll review with you now.
And it was funded by the National Cancer Institute.
There is the grant number here on the slide.
All told over a five year period, we enrolled over 1500 colorectal cancer patients, and
they all had the microsatellite instability test and 12 percent had that microsatellite
instability, indicating again that they were more likely to have Lynch Syndrome but also
as we now know more likely to benefit from immune therapy if it was needed.
They got followup genetic testing and additional testing to see if that immunohistochemistry
test worked to look for an acquired cause of MLH1 absence and full genetic testing to
see if they did in fact have Lynch Syndrome.
And we found that 44 of the 1566 patients did have Lynch Syndrome, for a prevalence
of 2.8 percent, which is actually quite high.
It's around 1 in 30 individuals with colon cancer who have Lynch Syndrome, which makes
this again one of the most common conditions in the world.
We also looked at a group of over 560 endometrial cancer patients and with endometrial cancer,
there's a higher proportion that have that microsatellite instability.
We found 23 percent in our cohort from Columbus.
They got the additional testing and interestingly, a very similar prevalence of Lynch Syndrome
was found among all newly diagnosed endometrial cancer patients.
So its been somewhat surprising to us that its been a little bit easier for most institutions
to implement universal tumor screening for colorectal cancer then it had been for endometrial
cancer.
If the purpose was to identify patients with Lynch Syndrome, the prevalence is the same,
and now that we have the added benefit of identifying patients who can benefit from
immune therapy, endometrial cancer patients have more to gain since almost 1/4 of them
have the microsatellite instability characteristic and could benefit from that therapy.
We looked a little closer at the colon cancer patients that we found to have Lynch Syndrome
in this citywide study and found that they were a little different from the patients
you usually see in a high risk genetics clinic.
For example, the average age of diagnosis was older than what had been previously published
for Lynch Syndrome based on high risk clinics with an average age of 51.
But they ranged from being diagnosed with colon cancer at 23 all the way up to 87.
Importantly, half of the patients found to have Lynch Syndrome were diagnosed after age
50, which was important because some people at the time were considering maybe only doing
universal tumor screening for Lynch Syndrome in young patients, and we were able to show
that half of the Lynch Syndrome cases would have been missed.
Also, somewhat disappointingly for me as a genetic counselor, we were able to show that
the family history criteria that were well known at the time, the Amsterdam and Bethesda
criteria, actually would not have performed very well in this group, and we would have
missed a quarter of the cases with Lynch Syndrome had we only referred patients who met the
family history criteria.
The mutation spectrum was a little different, too.
You start to see many more MSH6 and PMS2 gene mutations in a population based cohort then
you do in a high risk clinic where you're going to see much more MLH1 and MSH2 mutations
since these are higher risk Lynch Syndrome genes.
The next step in this study was probably the most important.
And that is once we found those individuals with Lynch Syndrome, offering genetic counseling
and testing to all of their at risk relatives.
This is now referred to as Cascade Testing.
And this is when you follow mutations through the family.
So, for example, we know when we identify a patient with Lynch Syndrome that half of
the brothers and sisters, half of their children will also have inherited Lynch Syndrome.
We know that they will have inherited it from their mother or their father, meaning that
their aunts and uncles on one of the sides of the family will also be at risk.
Once you identify which aunts and uncles are at risk, they can be tested, and you only
need to test your cousin if the aunt or uncle who is the parent of those cousins also has
mutation.
So this can save money and be very cost-effective, and these are individuals at very, very high
risk for having Lynch Syndrome so it's so-called low hanging fruit to get as many relatives
as possible tested once the family is diagnosed with Lynch Syndrome.
In our citywide study, we were able to test almost 300 additional relatives and found
130 additional relatives who were positive for Lynch Syndrome.
And importantly, most of these relatives are unaffected individuals who had never had cancer
yet and so they were identified in time to benefit from the intense surveillance guidelines
that we discussed earlier potentially preventing cancer diagnoses or hopefully at the very
least catching them early when they're treatable.
So on average, we tested about six relatives per patient diagnosed with Lynch Syndrome
revealing an additional three with Lynch Syndrome.
The trouble is clinically we don't seem to do this well.
A nice study by Uri Laudobaum found that we on average test about 3.6 relatives per patient
diagnosed with Lynch Syndrome and only about one test positive in the clinical setting.
I think the reason for this is that in the clinical setting, the patients usually are
referred to a local provider who they may or may not schedule with and they have to
drive sometimes a distance and go in for that counseling.
They're billed for the counseling.
They're billed for the testing, and these are barriers sometimes for getting those family
members in.
In our citywide study, the counseling was free.
The testing was free and most importantly I think we provided it locally by traveling
to the patient [inaudible] to the family.
So we provided the counseling at family reunions, at local churches, local doctor's offices,
in their house.
If they could get five at risk relatives in the same place, we went to them.
And that was, we have found, more effective way of doing Cascade Testing then simply making
referrals and hoping for the best.
So after that study, there was a lot of work done and one of the most important things
was that universal tumor screening for Lynch Syndrome was proven to be cost effective with
an incremental cost effectiveness ratio of $31,000 per life year saved.
And experts agree that anything less than $50,000 per life year saved is a cost effective
intervention.
So this was a really good sign.
And subsequently universal tumor screening for Lynch Syndrome was recommended by a number
of professional organizations for both colorectal cancer patients but also for endometrial cancer
patients.
So what's theproblem?
Unfortunately, what we've seen is a really slow adoption of universal tumor screening
for Lynch Syndrome.
If we look at back in 2012 there was a survey done of a subset of cancer hospitals and 71
percent of NCI designated comprehensive cancer centers that were surveyed were performing
universal tumor screening for Lynch Syndrome at that time.
But as you can see, only 15 to 36 percent of community oncology programs were performing
universal tumor screening for Lynch Syndrome, and this is where about 80 percent of cancer
patients are treated in the community.
So those patients are getting disparate care.
They're not getting this universal tumor screening for Lynch Syndrome that we've now shown is
feasible and cost effective.
And so that was the impetus behind our statewide study, which we just ended acrural to.
This was a study performed in the whole state of Ohio from 2013 through 2016 that is ongoing
with family members supported by internal funding at Ohio State.
So here you can see that we have 50 hospitals participating throughout the state of Ohio.
This is a 50 mile radius drawn around those 50 hospitals just to show that we have good
coverage of the whole state.
And we do have patients enrolled in the study who have colorectal cancer who live in all
88 counties in Ohio.
We have performed a lot of testing.
This is a complicated testing algorithm.
There's over 3350 patients enrolled all together, but we pulled the numbers when 2510 had completed
their testing.
And so if you walk down from the top of the slide with me, the first thing that we did
was the microsatellite instability test and the immunohistochemistry test.
And if either of those were positive, the tumor was considered to have the effectiveness
match repair.
So we found that in about 15 percent of our tumors and all of these remember would benefit
from immune therapy if needed.
The next step was to figure out whether that was due to acquired MLH1 methylation which
is a common cause of defective mismatch repair that's not Lynch Syndrome or not.
And so we actually tested for that methylation, and it was present in 63 percent of those
tumors with effective mismatch repair.
That's the gray box.
But it was not present in 36.8 percent of those tumors.
And so that left 142 patients who were eligible for genetic testing because their tumor had
defective mismatch repair, and it was not due to acquired methylation.
Those patients underwent a next generation sequencing panel for multiple colorectal cancer
genes, and we found 96 patients to have a hereditary cancer syndrome or 3.8 percent
of the total.
90 had Lynch Syndrome, ten had other syndromes and the reason that does not total 96 is that
we had four patients who had two syndromes.
This did leave 46 patients with effective mismatch repair in their tumor that was not
explained by a hereditary cancer syndromed.
We did perform tumor sequencing in these patients and found 43 of the 46 had double somatic
mutations in their mismatch repair gene, which is a known cause not due to Lynch Syndrome
of having a detective mismatch repair colon cancer.
And these patient's family members do not need increased screening for Lynch Syndrome.
The three who did not have double somatic mutations and all of the hundred who had hereditary
cancer syndromes got genetic counseling and Cascade Testing was offered to their family.
Importantly in this study, we were actually able to do some testing in the patients who
had coefficient mismatch repair or methylation.
So these are the orange box at the top and the gray box, which historically don't get
testing because they're unlikely to have Lynch Syndrome.
But in this study, we were able to test those that met clinical criteria of being young
at diagnosis, having a first degree relative with colon or endometrial cancer or having
multiple colon or endometrial cancers themselves.
So we had 924 patients who met those clinical criteria.
They also got a multigene cancer panel called [inaudible], and we found an additional 65
patients with a hereditary cancer syndrome.
Most of these did not have Lynch Syndrome, but there were in fact four cases of Lynch
Syndrome, and this just goes to show that the sensitivity of MSI and IHC is not 100
percent, and some cases of Lynch Syndrome do get missed through those tests but the
vast majority obviously were picked up in the other arm.
This was an additional 2.6 percent of patients with a hereditary cancer syndrome just showing
that not -- we don't catch all the hereditary cancer syndromes by doing MSI or IHC.
We just catch most of the Lynch Syndrome.
And all of those patients with a hereditary cancer syndrome also got genetic counseling.
And this study is continuing as we speak.
We did -- enrolled a small group of endometrial cancer patients and only were able to test
the patients with defective mismatch repair.
We're at 3.2 percent Lynch here so again a little higher than in the Columbus study perhaps
because of improved testing over the years.
But we're not -- we're close.
It's somewhere around that three to four percent range.
We have tested Cascade Testing in 355 relatives, and these individuals with Lynch Syndrome
have 114 additional mutations positive, 200 mutation negatives and test pending.
So this is ongoing, but this is, of course, again one of the most important parts of the
study because we have shown that the more relatives that get tested, the more cost effective
the program is.
And I will end there and turn things over to Deb Duquette.
They will just -- oh no, to Greg.
Sorry.
And they're just going to switch Greg to the host as we speak.
>> Fair enough.
I hope all of you can hear me.
It's a pleasure to be here with you all this afternoon.
Heather and David have really given some great information, and I'll be talking to you today
about something that is near and dear to my heart.
How do you make these sorts of activities applicable to diverse care settings?
A couple of disclaimers to this.
First, I speak for myself and not the Maine-Dartmouth Family Medicine Residency program where I'm
on faculty.
Nor do I speak for the Journal of the American Medical Association where I'm an Associate
Editor for Genomics.
And lastly, diverse care settings can mean different things to different individuals.
For today's purposes, I'm going to be speaking from a place I understand, which is rural
primary care.
I see patients in Central Maine.
The town I practiced in has approximately 5000 patients in it, and we have relatively
little access to genetic services in comparison to someone who may be practicing around a
major city.
So quite clearly, primary care providers and primary healthcare system have a role in identifying
individuals at risk for hereditary cancers and particular Lynch Syndrome but also [inaudible]
breast and ovarian cancer.
There are a myriad of potential roles primary care often has in caring for these individuals
from their initial identification through ensuring that they get long term surveillance
perhaps after they've developed a cancer, been treated and then go back into the primary
care setting.
For today, we'll be talking -- I'll be talking predominantly about the issue of identifying
individuals at risk and making sure they get into proper screening and counseling.
And this presents some challenges for those in primary care.
So a lot of that has to do simply with the numbers of -- and reality associated with
cancer syndromes, which though are reasonably common are not that common in primary care
practice.
So just for the purposes of comparison, I put together this slide that goes over the
size of integrated healthcare systems, in this case the Kaiser Northern California system,
and our residency program.
Kaiser Northern California, according to the website, covers about four million patients.
Our residency covers roughly 20,000 in Central Maine.
Kaiser Northern California has 71 hospitals.
We have one.
They have 238 medical offices.
We have three.
They have about 7600 physicians.
We have about 80 including our residents [inaudible] and Kaiser encompasses six regional genetics
clinics which presumably have each a number of genetics health professionals.
We have zero on staff at our residency or even in our hospital, but we do have some
access to genetics professionals through other hospital systems in our state.
You take this even one step further and think about the perspective -- size perspective
of a solo practitioner.
They may have 1000 patients, one hospital, one medical office and one physician, and
highly variable particularly in rural setting access to genetic services.
And so what are the consequences of those orders of magnitude of scale difference between
those systems?
Assume Lynch roughly affects 1 in 500 individuals.
It's probably a bit more prevalent in the population than 1 in 500.
But just for easy calculations, assume 1 in 500.
That means that Kaiser and their system may have 6000 individuals affected by Lynch Syndrome.
Our residency might have 40, and a solo doc might have two in their patient panel.
This translates to some challenges for the solo practitioner in a rural environment or
residency program like ours in a relatively genetically under resourced environment in
that to scale a detection of these individuals, whether you're talking about doing it through
universal screening of tumor or through family history, requires a certain amount of infrastructure
cost.
And that infrastructure cost is granted larger in Kaiser then it would be for a solo doc.
But relatively speaking, the economy is scale for setting up systems to detect and managing
individuals greatly favor a system that has large numbers of at risk people in their population.
Likewise, the incentives for gearing up to detect individuals at risk for Lynch Syndrome
favor a system that operate in a closed way.
In other words, they're essentially self-insured and can see the benefit of ascertaining these
individuals and their population, providing them with long term management and reducing
their risk of developing incident cancers.
In our residency environment and for many solo docs, although again, they're a vanishing
breed, the incentives for spending lots of time on detection of relatively uncommon conditions
like the familial cancer syndromes weigh against much investment in this area.
So -- I'm sorry, I'm going back and forth a bit there to make sure I'm on the right
slide.
So in our environment, we recently had a lecture from our hospital's Office of Prevention,
and they came in to present some relatively startling data to us about the topic of food
insecurity in our population in Central Maine, which is relatively poor.
And it was really eye opening for our office.
And we found that about one in five in children that we care for may come from a food insecure
household, and roughly the same number of seniors come from a similar environment.
And they presented reasonably credible data that suggests that there are tools to screen
for food insecurity and that in fact resources for these individuals are under utilized in
our state and that we ought to be doing a better job of detecting these folks.
In primary care, you're often faced with the issue of opportunity costs.
There are many things we could be doing for our patients at all times.
We are on a daily basis trying to decide which of those have a priority and that we're going
to be tackling?
And I would just put forward for folks on the call that they think about this issue
of opportunity cost and frame it in this way of thinking that in our population at least,
food insecurity is 100 times more prevalent than Lynch Syndrome.
And if you're a relatively small practice, where would you -- if you have limited resources
both in terms of time and dollars -- where would you spend those precious resources in
terms of getting the most outcome -- improved outcomes for your patients?
So some of the barriers to universal Lynch screening.
First, there's a perception, I think, among many health providers in primary care that
the condition is relatively rare, and they don't have many patients.
They could have educational needs both around this perception of relative rarity and regarding
value of finding individuals with Lynch and making sure they get proper counseling, testing
and then downstream services.
Their issues around reimbursement regarding the time it takes to ascertain these individuals
and primary care environments or in fact or if an individual comes back to you after universal
screening is found to be at risk ensuring that you take the time in your office to connect
them to proper downstream services and then manage their care longitudinally throughout
their life span.
And often we face challenges around subpar systems for communication, recording in electronic
medical records, mutation information or even recommendations for enhanced screening that
strays from those screening recommendations for people who are at baseline risk for cancers
in the population.
So in our environment, we recently undertaken a very small pilot project funded by the Maine
Cancer Foundation that it tends to tackle some of these issues, recognizing this project
isn't centered around universal Lynch Screening from the perspective of tumor testing but
rather starting with a broader funnel, if you will, of using family history information
which is reasonably readily available in primary care settings to identify people who are at
risk for hereditary breast and ovarian cancer syndrome as well as Lynch Syndrome.
The program that we've created has three components to it, a educational component for our health
professionals, both our trainees and our faculty.
It has a service delivery and health systems development component to it and then an evaluative
component.
The basic core of the program is the idea that we could establish in the context of
the patient [inaudible] that we have in our practices a wellness visit that instead of
focusing on diabetes or obesity focuses on cancer family history.
And essentially what we've done is empower anyone in our practices to make a referral
on the basis of either a patient or provider request to one of our nurses for a nurse cancer
family history visit.
The nurses and the providers are given resources to assess family history, which the patients
complete prior to the nurse wellness visit to help stratify the risk and we have attempted
to develop seamless downstream processes for making sure that individuals who go through
the family history of wellness visit and are identified to be at higher risk are referred
to appropriate genetic services offered through the Maine Medical Center at Portland.
We also have spent some time in this project and are just entering into the phase of really
working on this -- working on essentially communication coming back from the genetic
services providers.
So one of the challenges that I hear time and again from primary care providers is the
ability to translate often lengthy genetic consultation notes and testing results into
action steps in the office.
So we're working on both the form of referral letters and their structure as well as developing
the concept of a debriefing visit for patients in the context of the patient [inaudible]
which essentially encompasses an evaluation of what comes back from genetic services and
[inaudible] that in the medical record and their long term healthcare management plan.
We also recently have entered into a program that provides another very much needed aspect
which is patient support for people at risk for hereditary cancer syndromes.
We've teamed up with the folks from FORCE.
They have recently received a grant to pilot a program of peer navigators in several rural
states that help patients who are identified at being at risk to navigate the healthcare
system from testing through potentially treatment and downstream screening and/or surveillance.
So I leave you with basically these final thoughts.
Never forget perspective.
Many people in academic medical centers where actually a minority of cancer patients are
seen and treated live essentially on the beach in this picture.
They know that there are folks out there at risk for hereditary cancer syndrome.
Think of them as fishes swimming in the ocean, and they are right now.
Heather's done a fantastic job.
Deb is doing a great job in her state coming up with strategies to essentially be able
to get to those fish on the reef or patients in the clinic.
And the tools that one develops are very logical.
If you're in the context of a large health system or an academic medical center, snorkel
and mask would be an admirable set of tools for reaching the fish on the beach.
But some of us at least live in an environment which is much more akin to this view of the
beach.
And we need to be very cognizant of the fact that some of the tools that may be necessary
aren't necessarily sufficient for helping folks in under resourced environments do a
better job of ascertaining individuals at risk for hereditary cancer syndromes such
as Lynch Syndrome.
So inconclusion, attack -- approaches to tackling familial cancer syndrome detection, universal
screening or otherwise, must take the care study into account.
Addressing structural issues if necessary but not necessarily sufficient for progress
and carefully considering the timing in the introduction of a high demand and potentially
low yield intervention into a healthcare ecosystem needs to be at the floor of any planning process
when opportunity costs are there.
And my last slide.
Just thanks.
Collaborators at Maine Medical Center, the Jackson Laboratory, FORCE, the Maine General
Health Prevention Center and lastly the Maine Cancer Foundation who provided funding for
our small pilot project.
Thanks very much.
>> Good afternoon.
Thank you to the organizers of this research reality cyber webinar for inviting the Michigan
Department of Health and Human Services to present on our work to expand Lynch Syndrome
screening best practices.
It is quite an honor to be presenting today.
If you have any questions following today's webinar, please do not hesitate to give me
either a phone call or email at the following address.
Michigan is proud to be one of the five states including Oregon, Connecticut, Utah and Michigan
that received a five year cooperative agreement from the Centers for Disease Control and Prevention
to enhance our state health department's capacities to promote and apply evidence based cancer
genomics guidelines and public health.
Each of the currently funded states must conduct education, surveillance and policy activities
to advance hereditary breast and ovarian cancer best practices.
And states also have the option of adding Lynch Syndrome activities to their work.
Today's presentation will be focused on some of our Lynch Syndrome efforts.
The funded states are also required to have key partnerships with internal and external
partners including cancer registry, cancer genetic clinics, universities and nonprofits.
The funded states are also encouraged to target populations at higher risk for hereditary
cancers in under served areas.
In Michigan, we are working to overcome barriers and advance health system changes to promote
cancer genomic best practices with the ultimate goal of reducing incidents and mortality of
cancers related to Lynch Syndrome and hereditary breast and ovarian cancer.
We work on promoting an entire spectrum of hereditary cancer genomic best practices including
universal screening on newly diagnosed colorectal cancers as described by Heather and Greg and
also promoting the importance of documentation and collection of personal and family cancer
history followed by risk assessment and referral for additional evaluation and screening of
appropriate cancers as also described by Greg.
We also strongly recommend genetic counseling prior to hereditary cancer DNA testing with
written informed consent as required by our state law.
Appropriate clinical management and Cascade screening for high risk relatives as described
by Heather.
Michigan has conducted data -- has collected data on public awareness and provider practice
of hereditary colorectal cancers that demonstrate significant needs in areas for improvement.
For instance, based on the 2010 Michigan BRFS, which is a statewide phone survey, it was
found that nearly 80 percent of the 7.5 percent of Michigan adults with a personal or family
history of colorectal cancer were not even aware of hereditary colorectal cancer testing
availability and only three percent of these individuals had had such testing.
Additionally, based on an actual review of over 600 colorectal cancer charts diagnosed
in Michigan in 2006 to 2010, less than two percent had documentation of Lynch Syndrome
screening.
We currently estimate that at least 20,000 Michigan residents have Lynch Syndrome and
most are not aware of their eligibility for testing.
There is much work to be done to achieve the Lynch Syndrome healthy people 2020 objective
as described by David, and to increase awareness of hereditary colorectal cancer.
We are thankful to have a number of incredible partners including the Michigan Cancer Consortium,
which is a statewide network of over 100 organizations working to improve cancer outcomes for Michigan
residents.
The Michigan Cancer Consortium has embraced the Lynch Syndrome healthy people 2020 efforts
in the current state cancer plan, which includes an objective and strategies to increase the
percentage of newly diagnosed colorectal cancers screened for Lynch Syndrome in Michigan.
The statewide strategies include providing patient and provider education, promoting
national standards such as EGAP and increasing cancer genomic best practices among Michigan
health plans.
The Michigan Cancer Consortium represents one of our instrumental state health partners.
We also have joint activities with several multilevel partners including national organizations,
state and local partners, clinics and providers and families and individuals.
We are especially excited in Michigan about the recent Cancer Moonshot Blue Ribbon Panel
recommendation for prevention and early detection as described by David, which elevates the
Lynch Syndrome healthy people 2020 and our state cancer plan objective as an important
nationwide priority for evidence based implementation.
We are quite thankful that the importance of Cascade screening, clinical trials and
access to genetic counseling for Lynch Syndrome patients and families are included in the
Blue Ribbon Panel recommendation.
In order to achieve that Lynch Syndrome healthy people 2020 objective, the Michigan Department
of Health and Human Services in partnership with the CDC, the Ohio State University Huntsman
Cancer Institute and Emory University created the Lynch Syndrome Screening Network also
called LSSN with the vision to reduce cancer burden associated with Lynch Syndrome by promoting
universal Lynch Syndrome screening on all newly diagnosed colorectal cancer in endometrial
cancers and to [inaudible] the ability of all health systems to implement appropriate
screening by sharing resources and protocols.
There is no cost for institutions to join and there are currently 95 leading cancer
health systems and others who are members and partners of LSSN.
LSSN maintains an active listserv and a website that has multiple resources to assist institutions
to implement universal Lynch Syndrome screening.
The current 95 LSSN numbers are located in 30 states and three countries including the
U.S., Canada and the U.K. Based on recent LSSN membership data, there have been approximately
44,000 cancers screened for Lynch Syndrome by LSSN members since 2008 with significant
annual increases reported especially since 2014.
The initial screen performed by the majority of LSSN members is typically IHC as described
by Heather.
The majority of LSSN members typically begin universal Lynch Syndrome screening and colorectal
cancers and then after about two to three years decide to add endometrial cancers to
their screening program.
Although it is quite unusual for a state health department to be a founder and chair of such
a national network, we are pleased to fill this important need for health systems and
also proud that the largest number of LSSN members are in our state of Michigan.
The Michigan Cancer Surveillance Program, which is our state cancer registry, has been
another instrumental and critical partner for our survey with education and policy activities.
With our state cancer registry, we have been able to monitor the number of potential cases
appropriate for further Lynch Syndrome assessments in our state.
Examples of cancer cases appropriate for further risk evaluation for Lynch Syndrome include
colorectal cancer, ovarian cancer, endometrial cancers especially diagnosed at a young age
and multiple primary cancers.
We have found that approximately 6275 of these types of cancers are reported per year in
Michigan.
This surveillance data has been used in a number of ways including disseminating information
back to the over 150 reporting healthcare facilities in Michigan with educational materials
including information on how and where to refer such cases for clinical cancer genetic
assessment.
We have also conducted quality assurance chart audits to assess cancer family history documentation,
Lynch Syndrome screenings, counseling and testing.
These chart reviews led to the discovery of needed improvements for family history documentation
and the need for greater referral for Lynch Syndrome counseling and screening.
These surveillance activities also resulted in policy changes and educational initiatives
for local cancer registers -- registrars in Michigan about the types of hereditary cancer
testing performed and the importance of family and personal history of specific cancers.
Our state health department has also created a network of the cancer genetic clinics with
board certified genetic professionals in Michigan that provide deidentified data about their
cancer genetic counseling visits and testing.
As shown on the green map on this slide, most of these clinics are located in southern Michigan.
By utilizing our state cancer registry data, we have identified counties in Michigan with
a higher age adjusted incidence and mortality of specific cancers appropriate for hereditary
cancer screening.
For instance, as shown in the middle figure, the map with the counties in red are those
with a higher age adjusted incidence of colorectal cancer.
As shown, many of these red counties are in the thumb area of Michigan, which currently
have no cancer genetic counseling clinics.
We are therefore working to increase access to genetic services for individuals in these
counties and creating tailored primary care provider education such as in person or chats
and other provider activities with the 11 health systems in the thumb area.
Our state cancer genomics program with key state partners such as the Michigan Cancer
Genetics Alliance and Michigan Association of Health Plans also promote timely and relevant
messages by offering articles on Lynch Syndrome and other hereditary cancers for newsletters
and other publications that are disseminated to thousands of partners, providers and health
plan administrators.
For instance, this month's Michigan Cancer Consortium article highlights the Lynch Syndrome
Cancer Moonshot Blue Ribbon Panel recommendation and also provides other hereditary colorectal
cancer updates.
Impacting and supporting individuals and families with Lynch Syndrome and other hereditary cancers
is the impetus for all of our activities.
And we recognize the great importance of advocacy and support groups as vital resources.
Our state health department cancer genomic's program is proud to partner with several national
and local support groups including the first of two such local groups in our state for
individuals with Lynch Syndrome and other hereditary colorectal cancers which are supported
by the cancer support community in Ann Arbor and Gildas Club in Grand Rapids, Michigan.
Importantly, tomorrow, March 22, is Lynch Syndrome Awareness Day and has been recognized
in several states with efforts such as governor's proclamations.
It is an honor to acknowledge the amazing national and local hereditary colorectal cancer
advocates and to join efforts to promote Lynch Syndrome awareness.
In Michigan, our Governor Schneider, has proclaimed the entire week as Lynch Syndrome Awareness
Week.
In June, Michigan also celebrated FAP awareness in recognition of the 90th birthday of the
Michigan individual with FAP.
This Michigan resident may in fact be the oldest living known individual with FAP and
is a true testimony to the potential longevity of individuals with hereditary cancers.
And I'd like to thank all of the amazing individuals and our incredible partners who make our work
possible, and would also like to thank each and every one of you for your interest and
attendance at today's webinar.
Thank you very much.
>> Okay, great.
Thank you for those wonderful presentations.
We have just a few minutes left, and so we will hopefully be able to answer a couple
of questions but will also continue this discussion on research to reality.
You'll get an email about that after the cyber seminar ends.
So you met all of our speakers.
And again, you can submit your questions using the Q and A feature on the right side of your
screen.
Just type in your questions.
Select the option that sends it to all panelists and hit submit.
So our first question is from Juan Carlos, and he wants to know will there ever be a
situation where a colorectal cancer patient doesn't get tumor testing or in what case
would someone not get tumor testing in general?
So Greg, we can start with you or anybody is welcome to answer.
>> Sure.
I would say that depending on what healthcare system you're receiving your care.
There's quite a chance you could experience a lack of testing for hereditary Lynch Syndrome.
And I think there's actually some available data, and I'm sure Heather and Deb Duquette
could speak to this as well.
Even in systems where there is in theory universal testing that every tumor isn't tested every
time.
And so I think it's pretty important to consider essentially a safety net for those individuals
that makes use of family history where the importance of family history taking is strapped
at the level of primary as well as specialty care.
>> Yeah.
Great.
I would just add that certainly universal tumor screening for Lynch Syndrome is not
universal yet unfortunately as you saw in the statistics I provided.
Only 15 to 36 percent of community based hospitals were performing universal tumor screening
for Lynch Syndrome back in 2012.
Hopefully that has -- we expect that to improve since then, but we have to repeat the study
to get better numbers for now.
But I think it's very likely this could happen and so two points.
One is I think for anyone who is listening who is a colorectal cancer patient you can
certainly ask your doctor if your tumor was screened for Lynch Syndrome and find out.
And the lucky thing is, number two, this can be done at anytime as long as the tumor block
is still at the hospital where you had your surgery.
Many people don't realize that hospitals keep tumor blocks from your surgery for a minimum
amount of time.
It varies from state to state.
In Ohio, they have to keep them at least ten years.
But I have actually pulled tumor blocks from 1956 and been ableto perform tumor screening
on them for Lynch Syndrome.
So it's very possible if this was not done or you were diagnosed several years ago and
it was not done that it could still be done today.
So this is something definitely that you should ask about particularly if your cancer has
advanced and you're having trouble finding a therapy that you're resonding to, there
is this benefit now for immune therapy which only works in the microsatellite unstable
colon [inaudible] cancer patients and so could be very important to your treatment.
>> Okay, great.
And did you want to add anything Deb?
>> I think Heather covered that very thorough so I think she did a great job with that.
And I would just once again echo both Heather and Greg's thoughts too that at least in Michigan
it tends to be the more larger health systems that have implemented a universal screening
and the smaller community hospitals have -- are a little bit later adopters to this, but it
does tend to be as stated for the community hospitals are ones that are definitely trying
to promote especially in those more rural areas.
>> Okay.
Wonderful.
And so now we'll go to a question from Gina Cardinalli.
Thank you for this question.
What are the related national research priorities that I should be aware of and are there upcoming
MDI RFA's that I shoud be looking out for?
>> So I think -- it's David -- I think that's probably a question best suited for me.
So first of all, I thought that -- we referenced it relatively briefly and of course Heather
and Deb and Greg were part of this -- but the workshop that was on February 22 and 23
and information on NCI's website is available in terms of the agenda.
I thought did a really nice job of pulling together over the course of the day and a
half a whole set of potential opportunities for research.
There was a lot of discussion about what would -- what kind of capacity in terms of the workforce?
What very -- different tests that may be available?
How does one create a better system and what are some of the systemic challenges around
trying to scale up universal tumor testing, Cascade screening of relatives, etc.?
So just to think about and potentially view some of the material from that workshop as
potential research priorities to think about.
As far as the process for NCI going forward in terms of initiatives, there are groups
that have been brought together of NCI and other staff to think through next steps in
these areas.
So I think what you'll likely see over the coming months are a whole range of different
initiatives across the topics that were delivered to the panel and as was mentioned on here,
one of the clear areas is hereditary answers and Lynch Syndrome was seen as a nice case
of that.
So I would just say keep an eye out over the coming months as to a whole range of next
steps related to Blue Ribbon Panel and Moonshot.
>> Okay, great.
And next question from Sherry Austin.
What are a few best practices with community partners, i.e. nonprofits, nonprofits, clinics,
etc. that help with Lynch Syndrome testing enrollment?
Does anybody have any experience with that?
Maybe Heather?
>> This sounds like maybe -- I'm not sure if this is trying to get some of the smaller
institutions to implement universal tumor screening or to identify patients who are
at risk and get them referred to cancer genetics.
If it's the former, that website that Deb just mentioned from LSSN, the Lynch Syndrome
Screening Network, which is www.lynchscreening.net, has lots and lots of information to help an
institution kind of move through the different readiness stages to implementing universal
tumor screening for Lynch Syndrome.
We thought no one should have to recreate the wheel so we have everything up there,
flow charts for how to do it, who the stakeholders are, [inaudible], sample letters to patients,
sample pathology reports, anything you might need to try and implement universal tumor
screening.
So I highly recommend that website for people who are trying to do that.
If you're trying to help just kind of with general awareness about Lynch Syndrome and
referring for family history, I think that as Greg kind of really pointed out is super
important too because we don't always want to wait until someone gets a cancer to figure
out who has Lynch Syndrome.
We would like to identify these patients before they get a cancer and that's where family
history approaches can come in and really simply being aware that certainly anyone with
a colon or endometrial cancer diagnosed under age 50, anyone with multiple primary colon,
uterine, ovarian or stomach cancers or three cases total in their family should be referred
to a genetics provider for consideration of genetic testing I think is a really great
kind of basic recommendation for everybody.
>> All right.
And then [inaudible].
Go ahead.
>> This is Deb Duquette.
I'm going to just put out a couple of shout outs.
There's some -- I'm not sure if that question was getting at what Heather answered or if
it was getting more at different efforts that are done with advocacy partners or nonprofits.
And so if that question was about advocacy partners, please feel free to give us a call,
Greg or myself or Heather.
There's an awful lot that's going on with different national partners including different
registries that are getting formulated, also the importance of Cascade screening, one really
great resource that I'll put out there was developed by University of California San
Francisco called Kin Talk -- K-I-N then talk T-A-L-K.org.
It has wonderful information for families about Lynch Syndrome and ways to share that
with family members as well.
>> Okay.
Wonderful.
Well, we're coming up on 3 o'clock, and I want to be respectful of everyone's time.
Again, I did want to let you know that we'll put your question up on the discussion on
research to reality and have the presenters answer it on there.
So just again, I want to let everybody know about the discussion.
It'll be in an email that you'll get after the end of the cyber seminar.
In that followup email, it'll have a link to that discussion and a link to a survey
about the cyber seminar today.
So if you could take a couple of minutes to fill that out, it would be really, really
helpful for us.
If you would like a copy of today's presentation, please email us with your request at researchtoreality@mail.nih.gov.
We sent that out just a little bit earlier through the chat box.
So thank you for joining us for today's cyber seminar and we want to give a special thank
you to our presenters who did a great job.
So have a great day.
Thank you.
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