1.
Geisinger MyCode® Community Health Initiative begins returning results to patients
What does this mean? It means that the DNA of the first participants were read as a part of the larger
MyCode research program and it was discovered that these 148 participants had gene mutations
associated with certain conditions or diseases and were therefore at risk of developing these diseases.
The conditions or diseases involved were primarily certain types of cancer, dangerously high cholesterol
or various forms of heart disease.
Then what happens? The individual findings of the
research program so far – that these 148 people had
disease-causing genes -- were then sent off to special
laboratories to confirm the findings and make sure the
information was correct before it is given to the
patients.
Are patients told about the findings? Yes, after
confirmation of the results by independent laboratories,
the patients and their doctors were told about the
findings.
What if I haven’t heard back from MyCode? It is
estimated that between 2 and 4 percent of all MyCode
participants will be found to have disease-causing
genes. That means most of you will not be notified.
The chances that you will be among those getting
notified of a MyCode result are small.
What should I do if I don’t hear back? Nothing.
There is no reason to worry. We will only contact you if
we have something to report. If you don’t hear anything
it means one of two things: Either your results haven’t
been processed yet – there is sometimes a backlog –
or nothing was found in your DNA to report back to
you.
Is the program continuing? Very much so. With 115,000 participants and growing, results will
continue to be found and new participants are still being sought.
Looking for ways to help MyCode?
From time to time, the MyCode Community Health Initiative seeks people to participate in focus groups,
surveys, interviews and promotional/outreach activities. Your involvement helps us. The input of
community members who participated in focus groups in 2013, for example, led to Geisinger’s decision to
inform MyCode participants of medically relevant results. If you are a MyCode participant and would
consider taking part in support activities, send your name and contact details to MyCode@geisinger.edu.
Please put “MyCode Support” in the subject heading of your email. Alternatively, you may call toll free to
844-798-1687. There is no obligation at any time to participate in any of these activities.
Community
News
September 2016
Special note: All Geisinger patients are
encouraged to participate in the MyCode
Community Health Initiative, but it is
important to remember that MyCode is not
a replacement for seeing your doctor.
MyCode is a research program whose
purpose is to seek and find genetic
contribution to illness; to advance
knowledge of genomic medicine; and to
provide new and improved treatments —
and even possibly future cures — for
disease.
All MyCode participants who are found
to have gene mutations associated with
certain illnesses will be notified of this
information.
However, MyCode is not a clinical
program designed to monitor your
individual care. All patients, whether
MyCode participants or not, should consult
directly with their doctors if they have any
concerns related to family history or genetic
illnesses to get appropriate screening and
treatment.

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Consenters work in the community to enable patients to take part in MyCode
Consenters are the employees deployed to
recruit and explain the MyCode Community
Health Initiative to people who may be interested
in signing up.
Barbara Freeman (right) was the original MyCode
consenter.
She joined MyCode in 2006 before it was even
called MyCode. She has consented almost 7,000
people and now, at the end of August, she retired
at the age of 73.
On August 30th, on her last official day on the
job, Mrs. Freeman sat down with MyCode
Community News to talk about her experience.
“I really liked the people aspect of the job,” Mrs. Freeman said.
“I met a ton of people that I really enjoyed talking to. I heard a lot of sad stories over the years.
Sometimes people would come back just to tell me how they were doing or how they made out,” she said.
“But the project itself just felt so important. I felt I was getting in on the
ground floor of something really big,” Mrs. Freeman said.
Mrs. Freeman, of the Elysburg area, has been serving as an auditor for the program during the past two
years, but retires with the distinction of being Geisinger’s very first MyCode consenter.
MyCode changed a lot over the years, Mrs. Freeman said. In the beginning before the policy was
changed to return results to research participants, Mrs. Freeman said people were disappointed that they
wouldn’t be told of any findings.
But they consented anyway, she said. “Some of them were dealing with specific conditions and they
thought, ‘Well, maybe my kids or grandkids won’t have to deal with this,’” Mrs. Freeman said.
She has many memories, both good and bad, but she pointed up two in particular:
“There was a couple. The wife had cancer. I consented them into MyCode and every time after [when]
they had an appointment they would stop and chat with me and I got to know them very well,” Mrs.
Freeman said. “Then, there came a time when they stopped coming in, so I knew,” she said quietly.
She particularly also remembers a spry 92-year-old man whom she consented into MyCode. She said he
was healthy and fit with a quick mind and he made her laugh a lot.

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“It makes you wonder why are some so robust at 92 and others can barely write their own name at 62. I’m
hopeful the MyCode project will have an effect on things like dementia. I think that somebody out there
has a ‘good’ gene that’s going to help,” Mrs. Freeman said.
Already a grandmother, Mrs. Freeman said about her retirement: “I just think it’s time for me to take it
easy now,” she said.
Ariana Winder is one of our newer consenters
One of our newer consenters is Ariana Winder (below). She’s been working at consenting in a clinic in
State College for over a year now. She has a medical background (premed, bioethics) and is working on
a master’s degree in clinical research.
Ms. Winder said that of the many people she has talked to
about MyCode participation, none are interested in it for their
own sake. Everyone, it seems, volunteers to help friends, family
members and future generations.
Ms. Winder, said interest in consenting to the MyCode project
seems to come in waves, depending on what news stories are
most prominent at any given time.
For example, when there are stories about privacy hacks of
major corporations or government agencies, people tend to ask
a lot of questions about privacy and can be more leery of
consenting, she said.
Conversely, when there are stories prominent in the news about new medical discoveries associated with
genetics, new treatments and new therapeutic targets, people are eager and excited to take part, Ms.
Winder said. So the news can influence perceptions, but that’s why consenters are out in the community
— to help answer people’s questions and concerns, she said.
According to Carroll Flansburg, who leads the consenting and MyCode engagement processes,
Geisinger currently employs about 19 consenters, but that number will grow to 25 to 30 consenters
across Pennsylvania — even more later with expansion into the Harrisburg region and in New Jersey —
as MyCode expands from about 115,000 patient-participants toward its goal of 250,000 patient-
participants.
Recruitment for MyCode is now also taking place online at MyGeisinger, according to Ms. Flansburg, and
the program has already registered 3,764 people by online registration. Ms. Flansburg said she expects
that number to continue growing also.
If you are a Geisinger patient and would like more information on participating in the MyCode study, email
JoinMyCode@geisinger.edu or call 844-798-1687.

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Mike Lee joins Genomic Medicine Institute; heads up biobank activities
Ming Ta (Mike) Lee, PhD, has joined Geisinger’s Genomic Medicine Institute, where he will assist in
directing the MyCode Community Health Initiative. He will also contribute to ongoing work in
pharmacogenomics, the study of how genes affect a person's response to drugs.
An experienced biobank leader, Dr. Lee will further develop the
infrastructure and standard operating procedures for collecting,
processing and shipping specimens to the central biobank. The goal
is to have the MyCode biobank meet or exceed the standards
established by national and international entities that oversee and
certify biorepositories.
“We look forward to Dr. Lee’s contributions to expansion of the
Geisinger MyCode biobank,” said David J. Carey, PhD, Chair of the
Department of Molecular and Functional Genomics at Geisinger.
“The MyCode initiative provides a unique resource to link genomic and other data to longitudinal health
information from MyCode participants, with the goal to improve health and medical care of Geisinger
patients,” Dr. Carey said.
In previous research work, Dr. Lee has helped to establish the proper doses for key anticoagulant drugs
using clinical and genomic information. People react differently to different doses of the same drugs,
based partly on individual genomic variants. Knowing how genomic variants affect individual drug
tolerance can improve efficiency, reduce side effects and even save lives, making pharmacogenomics a
promising and vital area of research.
“Mike is an international leader in pharmacogenomics,” said Marc Williams,
MD, director of the Genomic Medicine Institute. “He has led the development
of pharmacogenomic clinical guidelines and will be working closely with
researchers and clinicians at Geisinger to implement this information to
improve the safety and effectiveness of medications for our patients,” Dr.
Williams said.
Dr. Lee most recently held positions in Japan and in his native Taiwan. He has been serving as a team
leader at the Genomic Sciences Center in Yokohama, Japan, which forms part of the Japanese natural
sciences research institute Rikagaku Kenkyusho, also known as RIKEN. He has also been working as an
assistant research scientist at the Institute of Biomedical Sciences, Academia Sinica, in Taiwan.
Educated at the University of Toronto in Canada and Cambridge University in the United Kingdom, where
he earned his doctorate in molecular virology, Dr. Lee joined Geisinger on April 1. Mike Lee can be
reached at mlee2@geisinger.edu or at 570-271-6664.

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Genetic counselors help those considering, and those having, genetic testing
Genetic counselors help people understand the
results of genetic testing and even to decide
whether or not they should undergo genetic
testing in the first place. “Sometimes we talk
people out of it,” said Heather Rocha, a 28-year-
old Danville native who has been working at
Geisinger as a genetic counselor for two years.
The job of a genetic counselor is to help people
assess whether there is a medical need for
genetic testing in the first place, then to navigate
the medical landscape for the testing process
itself and, finally, to handle the emotions that
can come with the results, Ms. Rocha said.
She said she has only met one patient who
expressed regret at having genetic testing done.
Most people, she said, find it satisfying,
particularly in cases where there’s a family
history of cancer, an area in which Ms. Rocha
spends a lot of her time. That’s because people
feel like they have an explanation to the
perennial question “Why me?” Ms. Rocha said.
Also, when there’s a family history of a disease
like cancer and genetic testing reveals that
there’s a genetic cause to the disease, it can
often mean that the next generation can be
tested and screened much sooner for the
disease, preventing cancer and even saving
lives.
Although there are many roads leading into
being a genetic counselor, Ms. Rocha’s
pathway — through a high-school sweetheart’s
mother — might be unique.
That high-school sweetheart, Daniel, is now her
husband and his mother is now her mother-in-
law. She happens to be Geisinger’s Brenda
Finucane, another genetics counselor and the
associate director of the Autism and
Developmental Medicine Institute (ADMI).
Ms. Finucane, who was working at the time as a
genetic counselor in Elwyn, Pa., invited Ms.
Rocha to come to work with her one day to
explore the field.
“I did it, and I was sold,” Ms. Rocha said. Ms.
Finucane’s job didn’t seem like work. She was
really and truly helping families to understand
why their children had problems with their
development and behavior. She helped to get
answers to the lifelong question “Why my child?”
After her schooling, Ms. Rocha worked for a
time in special education as a paraprofessional
assisting third- and fourth-graders at an
elementary school in Delaware, where she got
experience working with kids with developmental
disabilities.
Today, she spends about half her time working
in autism research and with families dealing with
developmental disabilities. The other half she
spends working with the hereditary cancer clinic.
“I have a special interest in pediatric hereditary
cancer syndromes,” Ms. Rocha said.

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“I love kids! When cancer is diagnosed in a young adult, it’s uncommon, but not unheard of. In kids, this is
a different story. It’s important to me to help families wrap their heads around how something like this
could have happened. Sometimes, it can help a family to cope with the diagnosis if we know why it
happened,” she said. Heather Rocha can be reached at hrocha@geisinger.edu or at 570-214-3152
Inherited-risk cancer clinics launched
One goal of the MyCode Community Health Initiative is to identify research participants who are at
high risk for developing certain cancers because they carry a genetic variant. “We want to help MyCode
community members get the right medical care, since many of these cancers can be either prevented or
detected at an early, curable stage,” says genetic counselor Audrey Fan.
Ms. Fan has been working with Geisinger specialists to launch two specialty multidisciplinary clinics
that focus on helping people who carry the genetic variants associated with hereditary breast and ovarian
cancer syndrome (caused by a mutation in the BRCA1 or 2 genes) or a hereditary colon cancer
syndrome called Lynch syndrome that is also associated with endometrial and ovarian cancer.
“Many of the people we identify will be healthy and cancer-free when they are told about these genetic
test results, and the goal of the clinics is to partner with patients and their physicians to help them stay
that way,” says Ms. Fan.
The Inherited Risk Breast Clinic began seeing patients in February 2015. Most patients had learned of
their genetic test results after a referral to a cancer genetic counselor for genetic testing from their primary
care providers. But many of clinic’s new patients came to the clinic because of discoveries made in the
MyCode research program, Ms. Fan said. The Inherited Risk Gastro-Intestinal (GI) Malignancy Clinic
started seeing patients in mid-April. Ms. Fan explained that patients meet with several specialists in one
office visit. The team reviews each patient’s case together before each individually seeing the patient. It
then reconvenes afterward to develop a plan of care.
Although the MyCode Community Health Initiative will find patients needing possible treatment and
care management, people looking for clinical DNA testing for medical reasons should not rely on
MyCode, Ms. Fan said, but should work through their primary care physicians.
The Inherited Risk GI Malignancy Clinic, which will benefit all Geisinger patients, is just another way
that the MyCode research program is benefiting the entire Geisinger community. “It’s because of MyCode
that we got the institutional support to start the clinic,” Ms. Fan said.
The Inherited Risk GI Malignancy Clinic team includes a genetic counselor (Jules Koenig); a medical
oncologist (Julie Woods, MD); a colorectal surgeon (Kristen Halm, MD); a urologic oncologist (Heinric
Williams, MD); a gynecological oncologist (Radhika Gogoi, MD); and a psychologist (Charlotte Collins,
PhD).
Operating similarly, the Inherited Risk Breast Clinic includes a breast surgeon (Rosemary Leeming, MD),
a medical oncologist (Victor Vogel, MD), a psychologist (Julie Hergenrather, PhD), a gynecological

8. 8
oncologist (Radhika Gogoi, MD), as well as a genetic counselor (Miranda Hallquist). Genetic counselor
Miranda Hallquist can be reached by email at mhallquist@geisinger.edu. Jules Koenig is at
jkoenig@geisinger.edu. The general hotline number for the clinics is 570-214-2637.
MyCode and the search for “superhero” genes
Earlier this year, there was a flurry of media stories about 13 people who, genetically speaking, should be
severely ill but weren’t, thanks to mutations in their DNA. Thirteen people who could save the world from
genetic slavery — only no one knows who they are.
The story was reported by The New York Times, US News & World Report, The Economist, The Atlantic,
the BBC, NPR and some popular science magazines, among others.
The prospect of scientists finding such “superhero” genes, as the media quickly
dubbed them, in these 13 individuals that could protect us from illness
understandably excited people and set off the media blitz.
Normally, we associate genes with illnesses like cancer and other diseases. We think of them as causing
illness — not protecting us from it.
The discovery of the 13 people was part of an exciting program known as the Resilience Project, which is
looking at the genes of about 500,000 people in the hopes of finding those mutations in genes that
appear to offer protection from rare or catastrophic illness.
The difficulty, in this case, is that the people with the “superhero” genes are completely anonymous. The
13 people don’t even know who they are. They may have submitted DNA to a commercial direct-to-
consumer company to find out if they were related to a European monarch, or perhaps they participated
in a research study at their local university. Their DNA got shared with researchers, but the people who
shared it were only able to pass on de-identified data and did not have permission to recontact the
individuals involved, even if they still knew them.
That meant the researchers looking at the data could explore those genes as much as they wanted, but
they would never know to whom they belonged.
This has been the Achilles heel of genomic or precision medicine. Patient consent and patient/participant
engagement are two absolutely essential aspects of future research if genomic medicine is to fulfill the
many promises it is holding out to us.
That’s why Geisinger Health System designed patient participation and engagement into its MyCode
Community Health Initiative early on. MyCode is a biobank and exome sequencing program begun in
2007 and expanded in 2014.
When Geisinger finds its 13 people with “superhero” gene mutations — and we may already have done
so — we will most likely not only know who they are, but also where they are and what their medical
histories are. And we’ll have their permission to recontact them for further studies and evaluations.

9. 9
That’s because all of the 115,000-plus participants in MyCode are Geisinger patients, and patient consent
and patient engagement were built into the program.
Geisinger’s current target for the MyCode Community Health Initiative is 250,000 patient-participants with
sequenced DNA. With its patients’ electronic health records going back 20 years, Geisinger’s MyCode is
the largest program of its kind in the country that is actually returning certified clinical results back to
research subjects/patients.
At Geisinger, we are trying to close the loop with our research participants so that it is no longer a one-
way transaction in which you give us your blood/saliva/urine and we do our research. Now, with genomic
medicine, the paradigm has changed: you give us your biological specimens and your consent, and we
promise to keep you informed on the research results in general and your individual qualifying results in
particular.
It is an experiment in a new social contract, the results of which are only now starting to materialize.
Of the more than 115,000 patient-participants in MyCode, about 60,000 have had their DNA (exomes)
sequenced to date through a collaboration with Regeneron Genetics Center and those results are now
“research ready.” Those figures are growing monthly.
About 148 individual Geisinger patients have already had independently certified clinical results — that is,
the discovery of pathogenic gene variants causing cancer or other disease — returned to them via a
specially tailored Geisinger protocol.
Have we found our 13 people with “superhero” genes? Quite possibly. Two
quick examples: Researchers are still going through the data, but, initial
results show that maybe 10 percent of those carrying the genes causing
familial hypercholesterolemia (dangerously high cholesterol potentially
leading to very early death) are not showing any symptoms of the disease.
Similarly, researchers have found new gene mutations that appear to provide substantial protection
against cardiovascular disease. These and other early research findings will be studied as the MyCode
Community Health Initiative progresses toward its goal of 250,000 exomes sequenced.
For questions or comments about this newsletter, contact David Stellfox at
dbstellfox@geisinger.edu or 570-214-6549.

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Geisinger Medical Center
100 N. Academy Ave.
Danville, PA 17822
MyCode participants drive changes in program
Normally, our medical providers, who care for you, and our researchers, who look for future cures and
treatments, work in different worlds. They don’t focus on you at the same time. But MyCode
has
changed that.
Although MyCode will improve healthcare for future generations, in some limited cases it can also reveal
information about your own current or future health — information that your doctor could use to provide
you with better care now.
Traditionally, professional ethical codes would say that research findings and the findings from your
routine doctor visits must be kept apart. But MyCode has made keeping those things separate a lot
harder.
After a series of surveys and focus groups, MyCode participants told us in no uncertain terms that if the
research on their DNA yielded results that could be useful to them or their families, they wanted to know.
Because of the need to keep our research data and your medical data separate, it was not the intention to
return DNA results to MyCode participants when the research program was originally launched.
However, Geisinger revised its position to respect the overwhelming support — even demand — for
returning results on the part of the participants. And at the same time, we want to make good on our duty
of care to these participants, who also happen to be our patients.
The return of results has now begun (see related article, page 1 and table on page 2), and it was
Geisinger MyCode patients who helped drive that change.