Diving Deep with Patient Advocates

I’ve been a certified genetic counselor for over 20 years, working in pediatrics, general genetics, cancer genetics, and now as the CEO of my own company, My Gene Counsel. I have counseled thousands of patients and their families over these two decades, have run patient support groups, and have created and produced a podcast of patient stories.

At this point in my career I’m considered a seasoned genetic counselor. At this point, shouldn’t I know everything there is to know about patients?   No.

I continue to be reminded that patient care is complex and evolving. There is always more to learn. I’ve never been reminded of this more than in the patient advocacy community. There are different types of patient advocates. Some are health care professionals who advocate on the behalf of patients. The patient advocates I speak of in this blog are instead patients, who advocate on behalf of themselves, their families, and the greater community of patients – particularly of patients who have the same condition or predisposition.

Over the past 3 years I have become involved in several genetics advocacy communities, especially those associated with hereditary cancer. My immersion into these communities has taught me, and reminded me, of many valuable lessons.

1. We, as cancer genetic counselors, counsel patients on their risks, sometimes help them choose a surveillance plan and/or prophylactic surgery, and often see them through that procedure. We hope that our patients have avoided a cancer diagnosis, and that everyone lives happily ever after. This is not always the case.

We know this, of course, as health care providers, but being immersed in the advocacy community you really see the long-term impact of these risk-reduction decisions. Patients live with these major medical decisions for the rest of their lives. Many of them battle negative effects that can be associated with surgically induced menopause, plastic surgery, and reconstructive surgery. They carry scars, physical and emotional, of the testing process and the decisions that followed. Many of them are grateful to have had the chance to make an informed decision and to avoid a first, or subsequent, cancer diagnosis. But some of them feel that the resulting outcomes were not worth reducing the risk of cancer development – even if they feel guilty for admitting that. As health care providers we focus on the cancer risk reduction – and that is clearly important – but there is more to be measured here, including the impact on quality of life, emotional, physical, and psychological well-being. And quite likely there will be a trade-off for patients who choose these medical interventions – both short- and long-term. Patient advocates are there to remind us of this.

2. Genetics and medical care is personal for these advocates. Be careful what you say and how you say it.

Two of my advocate friends recently attended a medical conference and a well-known speaker scoffed that ‘prophylactic mastectomy is an easy surgery.’ Perhaps he meant that procedurally a mastectomy is an easier surgery than a colectomy or an oophorectomy, in that breast tissue is not near major organs that can be injured. These two advocates didn’t hear it that way. One of them has personally experienced a prophylactic mastectomy, and they both have worked with countless patients who’ve had these surgeries, some of whom have experienced difficult physical and/or emotional recoveries. This comment rubbed them as calloused, insensitive, and hard-hearted – particularly coming from a male physician who has no idea, on a personal level, of what these patients have experienced. Whenever you give a lecture remember: in this age of technology and social media, it is most likely that a patient is hearing, or will hear your words. In fact, he or she may be live tweeting them out.

3. Patients want to be treated like intelligent, respected partners. No one is more invested in forwarding the field than the advocates.

Gone are the days when it is acceptable to leave your patient sitting in the waiting room for hours, and then call them in and tell them how it’s going to be. Genetic counselors as a whole have never bought into this paternalistic style of medicine, but now even we have to up our games. Many of these patients are smart, they’re invested, and there is a pretty good chance that they’ve read the latest journal article before you have – welcome to the world of patient advocacy via Facebook, Twitter, and Instagram. Of course, most patients don’t have medical backgrounds and they will likely need help deciphering the information, but they are on top of their game and want to be considered partners in the decision-making process. We should treat them as such.

4. Speaking of forwarding the field — advocates want their data freed.

Patient advocates are smarter, savvier, and better informed than ever. They want their genetic data shared to benefit research and the care of other patients, and they won’t settle for anything less. Companies who have previously taken advantage of patient naivete beware: advocates are partnering and banning together to free their data. Don’t stand in their way.

Medicine is changing rapidly and patients are becoming partners in, and consumers of, health care. Are you creating a clinical trial? Developing a patient intervention or materials? Or starting a company in the health care sector? My best advice to you is to bring on patient advocates as your partners from the start. Their perspective is vital.

Ellen Matloff, MS, CGC is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine. Ellen has authored more than 50 scientific publications in the field, is an established educator, lecturer and media spokesperson and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plantiff in the 2013 BRCA gene patent case that went before the Supreme Court in 2013. This decision has led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology.

Ellen is also the co-founder of #GenCSM, Genetic Cancer Social Media, on Twitter along with Amy Byer Shainman and Georgia Hurst. 

Living With Lynch syndrome: The Emotional Rollercoaster by Guest Blogger Kristen Lummis

Living With Lynch syndrome

It was just about a year ago that I started going crazy. Ten months out from a devastating cancer diagnosis and a subsequent Lynch syndrome diagnosis, I’d been holding pretty steady.

At one point, in the first months after my surgeries, flush with hope and my oncologist’s report of NED (no evidence of disease), I was heard to say: “cancer has made me a better person. I put on the best face possible. I told myself I wasn’t bitter. I told myself that I needed to be strong for my two teenage sons. I told myself that Lynch syndrome didn’t have to be a death sentence, philosophically recognizing that life, in itself, is a death sentence. I tried to be mindful and I tried to live in the moment.

My job, as I saw it, was to control the inputs that I could control. I lost weight. I became more fit. I started sleeping more. My diet became plant-based and I chose one bit of chocolate each day over alcohol. It’s possible that I was as healthy as I’ve ever been. Except that I wasn’t. My mental health was a wreck.

Eventually winter turned to spring, and the date of my cancer diagnosis drew closer, many days became anniversaries. There was the day I broke my arm and dislocated my shoulder. The day I realized, while recuperating on the couch from said broken arm and dislocated shoulder, that I was bleeding at times when I should not have been bleeding.

There was the anniversary of the coffee I had with a close friend who, based on the symptoms I described, told me to go see a doctor. And then there were the medical anniversaries: the exam, the ultrasound, the biopsy, the results. Each day became more significant than the last as my date of diagnosis approached.And as this date drew closer, I became emotionally frantic. In my mind, every conversation with every friend or stranger led with me saying “I had cancer. I have Lynch syndrome. It sucks. I may look okay, but I’m not. And no one cares.”

On nightly walks, I’d wear my husband out. I’d cry. I’d share my fears. I’d complain. And I’d seek his attention. Like the ultimate caregiver that he’s been from day one of my illness, he’d comfort and console and he’d listen. And then I’d feel guilty. By all accounts, I was healthy. So why couldn’t I get the disease out of my head?

Finally, on day after yet another nightmare in which I revisited the moments prior to surgery and the interaction with my oncologist, I’d had enough. I went to a counselor.

Working Through More Than I Thought

When I tell my most trusted friends that I’ve been seeing a counselor for nearly a year, they always wonder why.

When I tell them that I am suffering from fear and anxiety related to cancer and Lynch syndrome, they often look a bit quizzical.

And the conversation goes something like this.

“But you’re okay right? You don’t have cancer anymore.” And technically, I am okay, but as I’ve learned from other cancer survivors, even if we have no evidence of disease, we still carry the emotional scars of cancer and a fear of recurrence. It’s part of our permanent baggage. Lynch syndrome adds another dimension, another load, another rather large and unwieldy bag to our burden.

So when I went to my counselor, Evelyn, and unloaded all my feelings, it was relief to hear from her that she understood. She’d had cancer herself just one year before.

For 6 months, we worked through my anxieties about cancer and Lynch syndrome, my guilt at having possibly passed Lynch syndrome to my sons and uncovered numerous difficulties within my family.

While you might think that having a genetic condition could bring a family closer together as a rallying point, a shared experience, a circling of the wagons in a measure of protection and love, that wasn’t my experience.

My mother, who passed the mutation to me, has never had cancer. But having been raised by my grandmother, who suffered numerous cancers, my mother reacted to my news with visceral fear and mind-erasing denial.

Post-surgery, she barely visited me, although I live just 5 miles away. As the months went on, she refused to talk about Lynch syndrome with me or her doctors. Seeing a genetic counselor and undergoing recommended annual screenings was out of the question.

Although I have a brother, he’s adopted. I have two cousins who are positive for Lynch, but they are not cousins with whom I’m close. Finding Georgia and this community were a lifeline. It felt so good to realize I wasn’t alone.

As my confidence in myself, and my ability to process my feelings grew, I began to be less sad. The tears were less frequent, and except for the weeks leading up to my biannual check ups at Mayo Clinic, my stress level went down.

Best of all, my oncologist moved out of my head. Counseling had helped me regain my better self.

It’s Never Over

While I wish I could say that in this second year of my diagnosis, I have everything figured out, that would be a lie. I’ll never have it all figured out and I’ve become accustomed to moments of shock and awe when I think about what I’ve been through.

Every once in awhile, the realization of cancer and Lynch syndrome stops me in my tracks. It comes from nowhere and takes my breath away.

In November, my counselor Evelyn died. She had an inoperable recurrence of breast cancer. It broke my heart. Not only was she a trusted professional who helped me with some of the most intimate pain in my life, but she was a friend. She was a sister in survivorship who didn’t survive. Her death knocked me to the floor.

A month ago, as I was getting ready to return to Rochester for yet another cancer check up, I developed shingles from the stress. My family doctor recommended counseling. And so, I returned to my journey. And while my guide at this time is someone new, counseling helps me to remember the essence of who I am.

I’m not Lynch syndrome. I’m not cancer.

I’m me.

And I’m valuable.

Kristen Lummis

Kristen is a freelance writer based in Colorado, with a professional focus on family skiing and adventure. She blogs at braveskimom.com.


A Summary from Dana Farber’s LYNKED IN Conference: Connecting and Empowering Lynch Syndrome Families 2017

The Dana-Farber’s Center for Cancer Genetics and Prevention in Boston just held their second annual LYNKED IN conference on March 18th. The stated goal of the conference is to provide information to patients, as well as their families and caregivers. This was my first experience attending anything pertaining to the Lynch community. I follow Georgia’s website — ihavelynchsyndrome.org — and social media regularly, so I feel like I have an online presence in the community, but I wanted to take the time to actively engage and perhaps establish a physical presence in the community as well. I attended the conference with my mother, who does not have Lynch but has perhaps worried herself more than my sister and I, who do have it. For those of you who couldn’t make it, I hope to summarize what the conference was all about and emphasize some of the highlights. Much of the information at the conference probably isn’t too new to many of us, but there are some exciting things going on that I feel worth sharing, and given Dana-Farber’s status as a premier cancer treatment and research institute, their speakers were quite knowledgeable and a pleasure to hear speak.

One of the main highlights this year was the announcement of the Dana-Farber Cancer Institute (DFCI) Lynked In Center for Lynch syndrome by Dr. Sapna Syngal, who is the Director of Research at the DFCI Center for Cancer Genetics and Prevention and the GI Cancer Genetics and Prevention program. The goals for the center this year are to launch their website, develop an active social media presence, launch a nation-wide fundraising campaign, employ a nurse navigator for patients with Lynch syndrome, expand research under the purview of the national Cancer Moonshot effort, produce educational materials, and fund fellows to conduct Lynch syndrome research. There wasn’t much practical information about the center yet, but Dr. Syngal discussed the benefits to having all things Lynch-related under one roof— a place that brings together genetic counselors, GEs, Lynch research, and patients. This would also provide patients the ability to actively take part in ongoing research efforts.

Some of these research efforts going on at DFCI were discussed in a talk by Dr. Matt Yurgelun and include a patient registry that has been ongoing since the early 1990s, which has contributed significantly to dozens of studies on Lynch syndrome aided by researchers world-wide. Other research happening at DFCI include investigating new forms of cancer screening for prostate and pancreatic cancer, as well as new forms of cancer prevention in the form chemoprevention, in this case testing how aspirin regiments may affect polyp formation and frequency. While 600 mg of aspirin daily had been shown in the CAPP2 study 1 to be effective at reducing cancer rates in hereditary colorectal cancer patients, DFCI and an ongoing CAPP3 study hope to refine the optimal dose of aspirin to minimize any potential negative effects of high doses.

Another talk which I found particularly informative was by Dr. Marcela G. del Carmen, a gynecologic oncologist and professor of obstetrics, gynecology, and reproductive biology at Harvard Medical School. She discussed the lifetime risks of endometrial and ovarian cancer in individuals with Lynch compared to the general population. For endometrial, the risks are increased significantly, from 27-31% in Lynch cases vs 3% in the general population. This risk is also influenced by the particular mutation an individual has, with a 27-60% risk associated with the MLH1 and MSH2 mutations and 60-71% risk with MSH62. For ovarian cancer, the lifetime risk in Lynch is 3-14% vs 1.5% in the general population3. Dr. del Carmen suggests annual pelvic exams, trans-vaginal ultrasounds, and CA-125 screenings every 6-12 months for women with Lynch, starting between ages 30-35 for ovarian cancer. With regards to prophylactic measures, Dr. del Carmen discussed a CDC study that showed that oral contraceptive pills may reduce the risk of endometrial and ovarian cancer by as much as 50%4. She also recommends a total hysterectomy and oophorectomy as a preventative measure once women with Lynch are finished having children. Of course, she recommends being fully aware of the risks associated with these surgical procedures.

Other speakers included a nutritionist and genetic counselors. The nutritionist discussed the importance of a healthy diet that includes minimally processed foods, mostly plants, and the benefits to a colorful diet in terms of phytochemicals. She also discussed the benefits of the “partner” to a healthy diet— physical activity, which can reduce the risk of colon cancer by up to 30-40%5. Two of the genetic counselors gave a brief background to the genetics of Lynch syndrome, while another discussed reproductive options for those with Lynch. Besides going the natural route, couples with Lynch may consider IVF in conjunction with pre-implantation genetic diagnosis (PGD). As one would imagine, the costs for these procedures are often prohibitively expensive for many if paid for out of pocket, however there are some insurance plans that may help alleviate some of the costs. The keynote speaker was Dr. C. Richard Boland, a professor of medicine at the University of California, San Diego School of Medicine and author of the book “Cancer Family: The Search for the Cause of Hereditary Colorectal Cancer”. Dr. Boland discussed his family’s extensive history with Lynch and colorectal cancer and a brief history on the discovery of the mutations.

Perhaps the most emotional point of the conference was a patient panel in which three individuals with Lynch gave their personal stories. One of the speakers discovered her mother had Lynch when she developed colon cancer. She began to worry that she too might have Lynch, however, she was informed that she wouldn’t be able to get tested for over a month and would then have to wait a couple months for her results. Stressed by watching her mother battle colon cancer and knowing that she too could carry the mutation, her doctor suggested that if she wanted to put her mind at rest that she go ahead and have a colonoscopy. At age 35, she discovered that she had colon cancer and had to have a colectomy. Another speaker was 18 years old, and discovered that she had Lynch at the age of 17. She had her first colonoscopy at 17 and had two polyps removed. After the panel gave their stories, there was hardly a dry eye in the room as these were stories many there could relate to in some way. I was incredibly thankful that they chose to share their experiences with us, as this was what reminded me, and I’m sure others, why we were there.

The final talks took the form of breakout sessions. The sessions included a caregiver and support person session, a cancer survivorship informational session, and a GI screenings session as well as a yoga class and a Lynch syndrome fundraising and advocacy informational session. I chose to go to the “GI Screenings: All Your Questions Answered” breakout session. This session basically detailed both the prep and the procedure for colonoscopies. A handy “grocery list” was provided for all your colonoscopy prep essentials, including Gator-aid, JELLO (not the red kind!!!), bouillon, and MiraLAX. They went over the different variations of prep, making sure to emphasize how crucial a good prep was to an effective colonoscopy. It seems the “split dose” prep is becoming the prep of choice for most GEs, as it clears the colon of any bile produced overnight, allowing a clearer look at the colon. They also brought in the scopes they used, which was interesting to see, as those of us who have been through colonoscopies know, you don’t exactly get the chance to check them out beforehand. My mother attended the “Caregiver and Support Person Session”. She found this session incredibly helpful, not only in an informational capacity, but also as a chance to get to speak and connect with people in similar circumstances as her, where while she may not necessarily have Lynch, watching those around her that do battle with it creates quite the battle for her too.

Overall, I really enjoyed the conference. I’m an academic, and as such I wasn’t expecting to get much new information from the conference that I hadn’t already researched with regards to screening recommendations, the mechanisms behind Lynch or the associated risks. For obvious reasons, much of the gynecological information was new to me (I am a guy just in case you were wondering) and as I have and have had several women in my family affected by Lynch, I was thankful for that. But, perhaps what I most took away from the conference was a sense of community. Of course, the social media and internet community (particularly the one Georgia has built) has been critical in my own personal journey with Lynch, but to be surrounded by so many people with similar experiences and an incredible staff that specializes in Lynch at DFCI, made it feel more real. We all know how hard it can be to mentally, and indeed physically, deal with the impact Lynch has on us and our families, but events such as the LYNKED IN conference make it a little easier to deal with, as you realize you’re not alone and that there are some incredible people doing their best to help us in every way possible.

The Dana-Farber Cancer Institute has the LYNKED IN conference from 2016 posted on their website. Check back regularly, it’s likely they’ll post this years in the coming weeks.

DFCI Lynch Syndrome Program


  1. Burn J, Gerdes A, Macrae F, et al. Long-term eff ect of aspirin on cancer risk in carriers of hereditary colorectal cancer : an analysis from the CAPP2 randomised controlled trial. Lancet. 2011;378:2081-2087. doi:10.1016/S0140-6736(11)61049-0.
  2. Schmeler KM, Lynch HT, Chen L, et al. Prophylactic Surgery to Reduce the Risk of Gynecologic Cancers in the Lynch Syndrome. N Engl J Med. 2006;354(3):261-269.
  3. Watson P, Butzow R, Lynch HT, et al. The Clinical Features of Ovarian Cancer in Hereditary Nonpolyposis Colorectal Cancer. Gynecol Oncol. 2001;82(2):223-228. doi:10.1006/gyno.2001.6279.
  4. The Center for Disease Control Cancer and Steroid Hormone Study. J Am Med Assoc. 1983;249(12):1600.
  5. Boyle T, Keegel T, Bull F, Heyworth J, Fritschi L. Physical Activity and Risks of Proximal and Distal Colon Cancers : A Systematic Review and Meta-analysis. J Natl Cancer Inst. 2012;104(20). doi:10.1093/jnci/djs354.


The Anonymous Academic with Lynch syndrome

Our next #GenCSM is on Monday, March 27th! You don’t want to miss it!

Much gratitude to my “Anonymous Academic” for his stellar summary of the DF Lynch conference.

Hope to see you all on Twitter on Monday!




Lynch Syndrome Awareness Day 2017 and Hereditary Colon Cancer Syndromes

Colon Cancer Awareness Month and the Genetics of Inherited Colorectal Cancer

In 2000, President Clinton signed a White House Proclamation that March be designated Colon Cancer Awareness Month to bring attention to the second leading cause of cancer death in the United States. Each year, those who have been affected by colon cancer, their caregivers, and advocates come together to celebrate and honor people who have battled colon cancer, increase awareness, and educate the wider community about colon cancer screening and prevention. This Friday, March 3rd, 2017, celebrate the kickoff of Colon Cancer Awareness Month by wearing blue to show your support and help spread the word about colon cancer! For more details please visit dressinblueday.org!  

Colorectal cancer is the third most common cancer in the U.S., and approximately 5% of all colon cancer cases are caused by an inherited genetic mutation. Lynch syndrome is the most common cause of hereditary colorectal cancers, accounting for approximately 2-3% of inherited colon cancer cases. There are also other genetic syndromes that can cause a significantly increased risk for colon cancer, including Familial Adenomatous Polyposis, which accounts for approximately 1% of all colon cancer cases, and other rarer syndromes including attenuated Familial Adenomatous Polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, Juvenile Polyposis syndrome and Cowden syndrome, which collectively account for approximately 1% of inherited colon cancer cases. Please read on to learn a few important facts about these rarer inherited cancer syndromes


(Nat’l Cancer Inst, 2017)

Familial Adenomatous Polyposis (FAP)

Familial adenomatous polyposis (FAP) is the second most common cause of inherited colorectal cancers (~1% of all cases), and affects approximately 1/8,000-1/32,000 individuals. It is characterized by the development of hundreds to thousands of polyps, which are non-cancerous cell growths, in the lining of the gastrointestinal (GI) tract. The specific type of polyp associated with this condition is called an adenoma. The adenomatous polyps in FAP are usually found in the colon, but can appear anywhere in the GI tract, including the stomach and small intestine. Polyps usually develop by age 16, but can be seen in early childhood (range 7-36). By age 35, 95% of people affected with FAP will have colonic polyps. Without treatment, the uncontrolled overgrowth of polyps will inevitably lead to the development colon cancer.  The average age of colon cancer diagnosis in FAP is age 39.

There are several other cancers that FAP patients are at an increased risk for compared to the general population, including duodenal, gastric, periampullar, thyroid, brain (medulloblastoma), and pancreatic cancers. Children with FAP are also at a 1-2% increased risk for hepatoblastoma (liver cancer), which typically presents before age 5 if it is present. There are several other clinical features outside the GI tract that can be associated with FAP, including desmoid tumors (noncancerous growths in the connective tissue), dental anomalies, osteomas (bony growths), and congenital hypertrophy of the retinal pigment epithelium (CHRPE; spots on the back of the eye that do not affect vision).

FAP is due to a genetic mutation in the adenomatous polyposis coli (APC) gene and is inherited in an autosomal dominant manner. This means that one copy of a person’s APC gene has a mutation that renders it nonfunctional, which is enough to cause disease (see diagram below). It can be passed down in a family, and can affect men and women in every generation. The genetic change in APC is inherited from a parent approximately 75-80% of the time, and is seen for the first time in a person without a family history in 20% of cases. Individuals with FAP have a 50% risk of passing on an APC mutation to their children.

People with FAP should begin annual screening for polyps between ages 10-15 with a flexible sigmoidoscopy or colonoscopy, as well as an annual physical exam to evaluate the thyroid in the late teens. Screening for stomach and small intestinal polyps with upper endoscopy typically begins around age 25. As there is currently no curative treatment for FAP, the recommendation to prevent colon cancer is surgical removal of the colon (colectomy). The average age for colectomy is between 15-26. After surgery, colonoscopy or flexible sigmoidoscopy of the remaining rectal and/or intestinal tissue is still required.

Attenuated FAP

Attenuated FAP (AFAP) has historically accounted for approximately 0.5% of all colon cancer cases and is thought to affect 1/7,000-1/31,000 individuals. AFAP is similar to FAP, but people with AFAP typically develop between 10 and 100 polyps (average 30 polyps) on the right side of their colon. There is a 70% lifetime risk for developing colon cancer by age 80 in those affected with AFAP, and people are usually diagnosed with colon cancer around age 50-55. Individuals with AFAP are also at increased risk for duodenal, gastric, thyroid, and stomach cancer. AFAP is also caused by genetic mutations in the APC gene and follows an autosomal dominant inheritance pattern.

Screening and management recommendations are made based on the polyp burden. Colonoscopy to monitor for polyps usually begins in the late teens, and continues every 1-2 years from then on. It may be possible to control polyp growth by removing polyps (polypectomy) during each endoscopic screening procedure. A gastroenterologist will be able to determine if a colectomy should be considered, should the polyp burden become too overwhelming. Screening protocols for the other associated cancer risks (duodenal, gastric, thyroid) is similar to that of FAP.

MUTHY-Associated Polyposis (MAP)

MUTYH-associated polyposis (MAP) is another condition that causes the development of colonic polyps, which usually number less than 100. Aside from adenomas, there are other types of non-cancerous polyps that can be seen in MAP, including serrated adenomas, hyperplastic/serrated sessile polyps, and mixed (hyperplastic and adenomatous) polyps. Individuals affected with MAP have a 43-100% lifetime risk for developing colorectal cancer if they are not monitored closely. Colon cancer typically presents over age 50 after polyps have formed, but there have been cases where colon cancer due to MAP has been diagnosed in an individual who did not have any polyps. There is a 4-5% lifetime risk for duodenal polyps and cancer, as well as some evidence to suggest a slightly increased risk for various other types of late-onset cancer (ovary, bladder, skin; possibly breast and endometrial).

Unlike FAP and AFAP, MAP is due to inherited mutations in the MUTYH gene and is inherited in an autosomal recessive manner. This means that both copies of the MUTYH gene have mutations that render them non-functional (see diagram above). Individuals who only have one mutated copy of MUTYH are called “carriers” because they do not have MAP, but they can pass along the condition to their children if they have children with another carrier. Approximately 1-2% of the general northern European population are carriers for MAP. Because carriers do not experience any of the clinical features of MAP, it is typical for there to be little or no family history of colon polyps and colon cancer when someone is identified as having MAP.

Colonoscopy and polypectomy are recommended for those affected with MAP beginning at age 25-30 and should be continued every 1-2 years if polyps are detected. Colectomy may be considered if the polyp burden becomes too overwhelming. A baseline upper endoscopy to monitor for duodenal polyps and cancer is recommended at age 30-35, and management will be tailored based upon individual findings.

Peutz-Jegher syndrome (PJS)

Peutz-Jegher syndrome (PJS) is a rare inherited cancer syndrome that affects anywhere from 1/20,000 to 1/300,000 individuals. PJS causes specific polyps called hamartomas to develop anywhere in the GI tract, but are most commonly found in the small intestine. These polyps can cause bleeding and anemia, as well as intestinal blockage that leads to intussusception, a telescoping of the small intestine into itself that requires emergency surgery. A hallmark clinical finding in PJS is the presence of mucocutaneous pigmentations (dark blue/brown freckles) on the mouth, eyes, and nostrils at birth. These freckles typically fade by puberty and adulthood, but can be most persistent in the inner lip (see image below).

PJS also comes with significantly increased lifetime risks for a number of cancers. Included below is a table from the 2016 National Comprehensive Cancer Network (NCCN) guidelines that summarizes these risks, the screening recommendations, and the age at which to begin these screenings:

(National Comprehensive Cancer Network Guidelines V2.2016)

PJS is caused by a genetic mutation in the STK11 gene and is inherited in an autosomal dominant manner. This means that one copy of a person’s STK11 gene has a mutation that renders it nonfunctional, which is enough to cause PJS. It can be passed down in a family, and can affect men and women in every generation. Approximately 45% of individuals with PJS do not have a family history of the condition. In those cases, it is still unclear whether their condition is the result of a new genetic mutation in that individual, or if there may be other family members affected with PJS but limited clinical findings. Individuals with PJS have a 50% risk of passing it on to their children.

Juvenile Polyposis Syndrome (JPS)

Juvenile polyposis syndrome (JPS) is an inherited cancer syndrome that is characterized by an increased risk for the development of juvenile polyps within the GI tract, specifically the stomach, small intestine, colon, and rectum. Juvenile polyps are a specific type of hamartoma, and the term ‘juvenile’ does not refer to the age at when they develop. Those affected by JPS typically develop polyps by age 20, and these juvenile polyps can cause bleeding and anemia if left untreated. Included below is a table from the 2016 National Comprehensive Cancer Network (NCCN) guidelines that summarizes the associated cancer risks for JPS, the screening recommendations, and the age at which to begin these screenings:

(National Comprehensive Cancer Network Guidelines V2.2016)

JPS is inherited in an autosomal dominant manner by mutations in either SMAD4 or BMPR1A. This means that one copy of a person’s SMAD4 or BMPR1A gene has a mutation that renders it nonfunctional, which is enough to cause disease. Approximately 20% of JPS patients have a disease-causing genetic mutation identified in the SMAD4 gene and 20% have a genetic mutation identified in the BMPR1A gene. These are the only two genes currently associated with JPS. The remaining 60% of JPS cases do not yet have a genetic cause identified. The genetic change is inherited from a parent approximately 75% of the time, and is seen for the first time in a person without a family history in 25% of cases. Individuals with JPS have a 50% risk of passing on an APC mutation to their children.

Cowden syndrome

For a great and thorough explanation about Cowden syndrome, please refer to the previous blog post by my classmate, Kendra Frome!


Brand, R., Nielsen, M., Lynch, H., & Infante, E. (2012). MUTYH-associated polyposis. GeneReviews. University of Washington: Seattle, WA.

Colon Cancer Awareness Month: How It Got Started. Colon Cancer Alliance. Retrieved March 2, 2017. https://ccalliance.org/blog/colon-cancer-awareness-month-how-it-got-started/

Haidle, J. L., & Howe, J. R. (2015). Juvenile polyposis syndrome. GeneReviews. University of Washington: Seattle, WA.

How March Became Our Month. Colon Cancer Alliance. Retrieved March 2, 2017. https://www.ccalliance.org/awareness-month/

Jasperson, K. W., & Burt, R. W. (2014). APC-associated polyposis conditions. GeneReviews. University of Washington: Seattle, WA.

NCCN Guidelines: Genetic/Familial High Risk Assessment: Colorectal Version 2.2016. Retrieved March 2, 2017 from NCCN.org

Pagon, R. A., Adam, M. P., Ardinger, H. H., Wallace, S. E., Amemiya, A., Bean, L. J. H., … & Stephens, K. (2007). Peutz-Jeghers Syndrome–GeneReviews (®).

Lauren Gima is a second year student in the Master’s Program in Genetic Counseling at Northwestern University. She will graduate in March 2017 with experience in cancer, prenatal, and pediatric genetic counseling.

She has a background in research regarding inflammatory bowel disease and is currently working on her thesis project exploring healthcare providers’ interactions with FAP and Lynch syndrome patients. Originally from Southern California,

Lauren is always looking for the next great restaurant to try and enjoys hiking and swimming with her dog, Riley.

I recently got back from the Lynch syndrome conference in Rockville, MD and attended the Genomics and Population Action Collabarative (GPHAC) Leadership Meeting, in Washington, DC, with Dr. Muin Khoury. Please go to my twitter @ShewithLynch to see slides from the Rockland Lynch syndrome conference. 

Please join us for #GenCSM on Twitter with Heather Hampel to discuss Lynch syndrome and other hereditary colon cancer syndromes on Monday, March 27tth.


Georgia M. Hurst

Founder and Executive Director of ihavelynchsyndrome.org


NCI: Lynch Syndrome Workshop and Shining Light on Cowden Syndrome


Approaches to Blue Ribbon Panel Recommendations: The Case of Lynch Syndrome

The National Cancer Institute (NCI) is convening a Workshop on February 22–23, 2017, in Rockville, Maryland, to discuss issues related to cancer genetic testing approaches, current practices, and resources for case and family ascertainment in hereditary cancers, using Lynch syndrome as an example.

Lynch syndrome is a genetically inherited disorder that increases the risk of colorectal and endometrial cancers and several other malignancies. It is estimated that in the United States, up to 1 million people live with Lynch syndrome, but many are unaware of it. One approach recommended by the Cancer Moonshot Blue Ribbon Panel for identifying those with Lynch syndrome is testing of colorectal and endometrial cancers for specific markers. When the tumor test is abnormal, additional genetic testing and counseling is indicated to determine whether an individual has Lynch syndrome. If Lynch syndrome is diagnosed, then other family members could be tested.

During the Workshop, the Cancer Moonshot Blue Ribbon Panel Report recommendations on cancer prevention and early detection in individuals at high risk for cancer will be reviewed, and discussion topics will include health care delivery, gaps in current knowledge, and identification of resources needed to inform implementation.

For more info, please click here.

I will most definitely be attending this meeting and will keep you abreast to any new, interesting information regarding Lynch syndrome. Following Rockville, I will go to DC on Friday, February 24, 2017, for a meeting with the leadership of the Genomics and Population Health Action Collaborative (GPHAC) in Washington, DC. to discuss Lynch syndrome since it is now classified as a Tier 1 priority. I am truly honored to be the only advocate for those with Lynch syndrome to be a part of this collaborative.

There are many hereditary cancer syndromes out there and I am truly interested in shining light onto all of them — they all warrant the same attention. The people that I have the pleasure of interacting with on various social media platforms who hold these various mutations have provided me with tremendous insight and perspective — their   daily battles are heart-wrenching. With Colon Cancer Awareness Month also approaching, it is important to note that Lynch syndrome is not the only hereditary cancer syndrome responsible for colon cancer — there are quite a few others; Cowden syndrome being one of them.

This blog post by Kendra is devoted to Heather… 



Cowden syndrome is a condition that affects 1/200,000 individuals. It is characterized by benign and malignant tumors in certain areas of the body. Almost everyone with Cowden syndrome develops tumors called hamartomas. These growths are usually found on the skin or the lining of body cavities and organs. Typically, by an individual’s late 20s these growths become apparent.

Individuals with Cowden syndrome also have an increased risk of developing certain types of cancer, including breast cancer, thyroid cancer, and uterine cancer. In addition, some people with Cowden syndrome have also been diagnosed with colorectal cancer, kidney cancer, and melanoma (a type of skin cancer).

The lifetime risk of developing these types of cancers in individuals with Cowden syndrome is higher than the general population. In addition, people with Cowden syndrome tend to develop these types of cancer at younger ages compared to the general population.

Apart from cancer or tumors, individuals with Cowden syndrome can have macrocephaly (large head), Lhermitte-Duclos disease (noncancerous brain tumor), and a small percentage can have intellectual delay.

Cowden syndrome is caused by changes in a gene called PTEN. Genes provide the instructions for our body. Our genes are made up of DNA, which is a code and is essentially made up of letters. If a gene has a spelling error or a portion of the code is missing or duplicated, then that gene might be not functioning properly. This is called a genetic mutation. In Cowden syndrome, this genetic mutation can be found new in a person 10%-47% of the time, or it can be inherited from a parent.

Cowden syndrome can be passed down from generation to generation, and is inherited in an autosomal dominant pattern. Autosomal means that it can be passed down through men or women, and dominant means we can see the condition in every generation. To further explain, we have two copies of every gene in our body. If one copy of a gene is not functioning properly and the other one is, there is a 50% chance of passing on the nonworking copy for each pregnancy, which means that pregnancy would be affected. There is also a 50% chance of passing on the working copy for each pregnancy, which means that pregnancy would not be affected and that child would not be able to pass on the condition to their children.

If a person is diagnosed with Cowden syndrome, there are many management and screening recommendations to help take care of that person and catch cancer early if a cancer forms. It is recommended to have annual mammograms starting at age 30, and a breast MRI annually for patients with dense breast tissue. It is recommended to get an annual ultrasound for the thyroid and renal imaging every 2 years starting at the age of 40. It is also recommended to get a colonoscopy every 2 years starting at the age of 35.

Eng, C. PTEN Hamartoma Tumor Syndrome. Retrieved February 2, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1488/ .

Genetics Home Reference. Retrieved February 2, 2017 from https://ghr.nlm.nih.gov/condition/cowden-syndrome.

Mester, J., & Eng, C. (2014). Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. Journal of Surgical Oncology, 111(1): 125-130.

Schnieder, K.A. (2002). Counseling about cancer: strategies for genetic counseling. Retrieved February 2, 2017.

Kendra Frome is currently a Northwestern genetic counseling studentunnamed-1. She will graduate in March of 2017 with a Masters degree in genetic counseling. She has experience working with cancer, prenatal, and pediatric genetics. She has a special interest in fertility preservation and techniques for cancer patients, and is currently working on her thesis regarding partner perspectives on fertility preservation. She is originally from Oregon and enjoys spending time outdoors hiking, doing sports, and swimming.

Hot Careers: Become a Certified Genetic Counselor!

Do you like genetics and working with patients? Do you want to be a genetic counselor? Are you interested in learning more about the field? These are a few of the first things individuals interested in the career often think about. The second is often figuring out how to get a starting foot into the process. Either way, genetic counseling is an exciting field that is rewarding in many ways.

What is certified genetic counseling?

The National Society of Genetic Counselors defines the “professional as having specialized education in genetics and counseling to provide personalized help patients may need as they make decisions about their genetic health” (NSGC). As a profession, genetic counseling is exciting, booming, and overall boasts a high satisfaction rate. In terms of a career profile, in 2016, NSGC’s Professional Status Survey quoted genetic counselors’ average salaries at around $81,000. The most exciting prospect is that this is an ever-growing field, with opportunities to do work in clinical, industry, research, and educational settings. The potential for growth was marked at 29% by the U.S. Bureau of Labor Statistics, and the demand for genetic counselors just keeps growing and growing. As genetics becomes more integrated with the field of personalized medicine, larger amounts of patients wish to know about their genetic makeup. The demand for someone with both the ability to interpret genetic results as well as communicate it effectively is definitely rising.

What about the field?

The field of genetic counseling has been around since the early 1940s and has only continued to expand as the years have gone by. Now, there are 36 accredited programs in the United States as well as 3 in Canada to which interested individuals can apply (ACGC). Application dates typically open early in the Fall and have varying closing dates, depending on the program.

What is the general application process?

Applying to a genetic counseling program is a multi-step process that involves a series of requirements as well as recommended activities. When applying, every program has different classes that are required, so a good tip is to keep track of which schools require specific biology, chemistry, psychology, or additional courses. Additionally, programs often recommend gaining experience working with people in crisis. This can be through volunteering for crisis organizations, working in various shelters, through mentoring youth—there are many options as to what kind of work this can be.

More so, the programs also generally recommend some kind of shadowing exposure to the field. Whether this is through shadowing clinical genetic counselors or working with industry/laboratory genetic counselors, any interactions with the field are sure to be a gain in knowledge about the profession. A few more standard and general requirements such as obtaining a Bachelors of Science or a Bachelors of Art, submitting college transcripts, taking the GREs, and obtaining letters of recommendation are important to finish out the application process. Again, it is important to note that each program has a different set of requirements, but many of them overlap with each other. Always feel free to reach out to the programs if you have any questions regarding the application process. Someone will get back to you and try to answer your questions if you have confusion about prerequisites or would like some advice.

An excellent resource (that I wish I would have had) is the following spreadsheet created by Tia Moscarello & Erin Syverson of the Prospective Students Task Force Leaders 2016. They compiled all the information regarding each program as a useful tool for individuals applying for genetic counseling programs.

Why become a genetic counselor?

With some general knowledge now of how to apply to a genetic counseling program, let us talk about the wonderful benefits that come along with being a genetic counselor. One of the main attributes involves the intersection of genetics and patient care. A few quotes from some fellow first years can better explain why they were interested in pursuing a career in genetic counseling:

  • “I loved the prospect of a career that merged my love of genetics with the ability to help patients.”
  • “The fluidity of the field was so compelling. I could potentially teach, work in a lab, or even see patients. I might be able to even do a combination of all the aspects.”
  • “I’ve been research heavy for years and felt removed from direct interactions with people. I wanted to do something that more directly benefited people.”
  • “I left college and worked in a genetic testing laboratory. I talked to some GCs and got their perspectives about my career choices. Next thing I knew, I applied!”
  • “What I really liked about it was the concept of being able to directly apply what we’ve learned in doing research on these diseases to a clinical setting.”
  • “I love that genetic counseling incorporates a strong psychosocial piece into the practice of medicine; I think that it is so important to understand how science can impact the lives of people and their families beyond surface-level medical decisions.”

There are definitely a variety of ways to get involved with the genetic counseling field first hand, and an even larger variety of reasons as to why people got involved. These are just a few tips to consider when considering a career in genetic counseling!





Alice is a first-year graduate student at the Northwestern University Graduate Program in Genetic Counseling (http://www.cgm.northwestern.edu/education/graduate-genetic-medicine/index.html). Prior to entering the program, she interned at an industry laboratory and volunteered at a DV hotline in San Diego. She is a transplant from the California Bay Area and is currently enjoying her time living, learning about genetic counseling in depth, and exploring all the sights in Chicago.

Pathway Genomics is an ethically based genetic testing lab and generously supports ihavelynchsyndrome.org’s mission. Most genetic counselors in the United States are listed on www.nsgc.org in the search function on the home page.  To learn more about Pathway, its hereditary cancer products, the genetic testing process, and help finding a certified genetic counselor, please go to: https://www.pathway.com. Or please reach out to me and I will help you!

Did you know ihavelynchsyndrome.org has a Facebook page? Read the latest reviews about ihavelynchsyndrome.org‘s advocacy efforts!

Gratitude to Pathway Genomics for sponsoring ihavelynchsyndrome.org and its mission! Together we are helping countless people and saving lives!


Georgia M. Hurst

Founder and Executive Director of ihavelynchsyndrome.org



Guardian of the Genome: An Overview of Li-Fraumeni Syndrome

Li-Fraumeni syndrome

Li-Fraumeni syndrome

When I was initially diagnosed with Lynch syndrome, I became highly interested in other hereditary cancer syndromes and wanted to learn as much about them as I could. Reading about them gave me tremendous perspective. The more I read, the more I recognized the parallels between them … there may be some different cancer manifestations of these syndromes but for the most part the emotional gravity of having a hereditary cancer syndrome is the same.


You may be familiar with the BRCA genes and Lynch syndrome, but there are many other cancer predisposition syndromes that affect people around the world. One such condition is Li-Fraumeni syndrome – a rare syndrome that affects about 1 in 20,000 people. Li-Fraumeni syndrome was identified by Dr. Frederick Li and Dr. Joseph Fraumeni in 1969. The two doctors noted a number of families affected by multiples types of cancer and cancers that developed at a young age. Their research of these notable families ultimately led to the discovery of a new cancer predisposition syndrome and the gene responsible for the condition.

What is Li-Fraumeni Syndrome?

Li-Fraumeni syndrome is an inherited condition that increases a person’s risk for a wide range of cancers. Individuals with Li-Fraumeni syndrome are at risk for the following types of cancer:

  • Pre-menopausal breast cancer
  • Brain tumors
  • Soft tissue sarcomas
  • Bone sarcomas
  • Adrenal cortical tumors
  • Leukemia
  • Melanoma
  • Gastrointestinal cancers (colon, stomach, pancreas)

Li-Fraumeni syndrome affects both men and women, although women are more likely to develop cancer due to the risk for breast cancer. Individuals with Li-Fraumeni syndrome have a high risk for developing multiple primary cancers during their lifetime. There is also a higher likelihood of developing cancer at a younger age than expected. Cancers may occur in young adulthood, or even as early as childhood. The risk for childhood cancers, such as brain tumors and leukemia, makes Li-Fraumeni syndrome distinct from other cancer predisposition syndromes.

What causes Li-Fraumeni Syndrome?

Li-Fraumeni is caused by mutations in the TP53 gene. TP53 is one of many tumor suppressor genes that help protect our bodies from cancer. This gene contains the instructions for the body to make “tumor protein 53”, also known as “p53”. P53 is responsible for fixing errors that arise during the process of cell division. This protein works in different types of cells throughout our entire body, making it very important. Because of its critical functions, p53 has been called “the guardian of the genome.”

In Li-Fraumeni syndrome, a person is born with a mutation in TP53 that prevents the gene from working like it is supposed to. It is natural for our bodies to make errors during the process of cell division. Certain environmental exposures, such as UV rays from the sun, may also cause damage in our cells. Typically, the p53 protein can fix these mistakes. When someone has a mutation in TP53, there is not enough p53 protein to catch all of the errors that can happen. This means there is a higher chance for cells to continuing growing abnormally following a mistake, which can ultimately lead to cancer.

What is the medical management for Li-Fraumeni syndrome?

The medical community has established several screening guidelines to help reduce the risk for cancer in Li-Fraumeni patients. Because of the multitude of cancer risks, a newly diagnosed patient should meet with a genetic counselor and appropriate specialists to develop an individualized screening plan. In general, annual whole body MRIs are recommended to thoroughly check for tumors. Radiation exposure, including radiation therapy, should be kept to a minimum. Some of the screening guidelines for Li-Fraumeni syndrome overlap with BRCA1/2 and Lynch syndrome, due to the risk for early-onset breast cancer and colon cancer.

How is Li-Fraumeni syndrome inherited?

Every person has two copies of the TP53 gene – one inherited from their mother, and one inherited from their father. A person who has Li-Fraumeni syndrome has a mutation in one copy of the TP53 gene. In other words, it is an autosomal dominant condition. Someone with Li-Fraumeni syndrome has a 50% chance of passing on the copy of TP53 with the mutation to each of their children. There is also a 50% chance that parents and siblings have the same mutation.

Most cases of Li-Fraumeni syndrome are familial and a strong family history of cancer is observed. Individuals diagnosed with Li-Fraumeni syndrome usually inherited the gene mutation from either their mother or father. In up to 20%of cases, the condition is caused by a new or “de novo” mutation. This means the patient is the first person in the family to have Li-Fraumeni syndrome, and there may be no other family history of cancer.

Who should have testing for Li-Fraumeni syndrome?

Genetic testing for Li-Fraumeni syndrome is typically offered to people who meet any of the following criteria:

  • Women who have had breast cancer prior to age 30 (especially if BRCA1 and BRCA2 genetic testing was negative)
  • Individuals who have had adrenocortical carcinoma (a type of tumor found in a gland above the kidney)
  • Individuals who have had choroid plexus carcinoma (a rare type of childhood brain tumor)
  • Individuals who have had any Li-Fraumeni associated cancer diagnosed before age 46 AND have at least one close relative also diagnosed with a Li-Fraumeni cancer
  • Individuals who have had two or more types of cancer associated with Li-Fraumeni, with the first being diagnosed prior to age 46

Testing for Li-Fraumeni syndrome is also recommended when there is a known TP53 mutation in the family. Unlike most inherited cancer syndromes, genetic testing for TP53 is warranted for children. This is because of the increased risk for childhood cancers. Screening for cancers can start at an earlier age, so it is helpful to know if children and young adults have a mutation. In other inherited cancer syndromes, genetic testing for a familial mutation is not usually recommended until a child turns 18 and can make their own medical decisions. It can be difficult for parents to decide when to have their children tested, as this information will impact the rest of their lives. A genetic counselor can help with this discussion, as the most appropriate timing varies for every family.

Genetic testing for TP53 is available through several commercial laboratories. Individuals who seek genetic testing should request an appointment with a genetic counselor to learn more about inherited cancer syndromes and to discuss the benefits, risks and limitations of genetic testing.

Version 2

Rebecca is a second year graduate student at the Northwestern University Graduate Program in Genetic Counseling. She is simultaneously pursuing a masters degree in medical humanities and bioethics at Northwestern. Rebecca originally hails from the San Francisco Bay Area and worked at a genetic testing laboratory prior to graduate school. In her free time, she enjoys hiking, cooking, and trying new workout classes.

Pathway’s genetic tests screen a number of known genes related to hereditary cancers. The goal of every test is to determine a patient’s risk of cancer. This knowledge can help your physician to develop the appropriate or preventative treatment plan for early detection. If the results of your test indicate an increased risk for cancer, your doctor may order tests like mammograms, colonoscopy and CT scans for any possible diagnosis and immediate intervention.

Pathway Genomics provides genetic testing for Li-Fraumeni syndrome. Please ask your doctor and certified genetic counselor if you are a candidate for genetic testing.

I recently hosted the Pink and Blue: Colors of Hereditary Cancer in Chicago on December 1st! We had a great turn out and my #GenCSM partners, Amy Byer Shainman and Ellen Matloff, attended the event! I would like to thank them and Dr. Liu and Scott Weissman, CGC, for being on the stellar Q & A panel! Gratitude to Pathway Genomics for sponsoring the screening in Chicago!








We recently also had our #GenCSM tweet chat with thee Dr. Siddhartha Mukherjee and it was our most successful #GenCSM chat to date! Dr. Mukherjee was very gracious to spend an hour with us, answering our questions and addressing questions from the audience.

Please click here to read the transcript! Again, gratitude to Pathway Genomics for sponsoring it!

Together we are raising awareness and truly saving lives!





Happy Holidays to you and yours and may your New Year be filled with health, happiness, and love.


Georgia Hurst

Founder and Executive Director of ihavelynchsyndrome.org




Thanksgiving is National Family Health History Day!


Thanksgiving is National Family Health History Day!

Thanksgiving is National Family Health History Day!

With the holiday season fast approaching in the US, many of us are looking forward to celebrating by spending quality time with family. But besides enjoying turkey dinners and holiday sales, did you also know that Thanksgiving is a great time to gather a family health history?

In 2004, the U.S. Surgeon General declared Thanksgiving as National Family Health History Day. This information is very useful for your health care providers to know what medical conditions you may be at risk for based on your family history, and how to better manage your care to reduce the risk of developing those conditions. With multiple generations usually gathered in one place to celebrate in a relaxed atmosphere, Thanksgiving is the perfect time to gather health information from many relatives at once.

Why is it important?

There are many health conditions that can be inherited or passed down in a family. If a close relative develops a health condition such as colon cancer, there is a chance that they may carry a genetic change or mutation that put them at an increased risk for cancer, which you could have also possibly inherited. If your doctors know about this family history, there are preventative measures that may be taken to possibly prevent you from developing that same health condition in the future

How do I gather it?

Ask your family members about their general health and any chronic health conditions they may have had (cancer, heart disease, diabetes, stroke, thyroid issues, autoimmune diseases, hypertension, etc.).

There is some specific information about the family history related to cancer that would be helpful for your health care providers to know, such as:

  • Specific cancers diagnosed in the family
  • Ages at diagnosis
  • Ages at death and cause (if applicable)  
  • Any treatments they received
  • Medications they may be taking
  • Information about any genetic testing that may have been performed

Whom do I include?

Information about your closest blood relatives will be most helpful because they share much of the same genetic information as you. This includes:

  • Parents
  • Siblings
  • Children
  • Grandparents
  • Aunts and uncles
  • First cousins

What do I do with this information once it’s gathered?

  • Share it with your health care providers so that they can provide a risk assessment and make medical recommendations
  • Share this information with other family members
  • Update it as you learn more information

Helpful tools

The US Surgeon General and the Department of Health and Human Services have published an online tool called My Family Health Portrait to make it easier to collect and store a family health history. Once the information is filled in, you can save the information in both a family tree and table format to share with others!

Online version: https://familyhistory.hhs.gov/

Printable version: http://www.hhs.gov/sites/default/files/familyhistory/portrait/portraiteng.pdf





Happy Thanksgiving!


Lauren Gima


Lauren Gima is a second year student in the Master’s Program in Genetic Counseling at Northwestern University. She will graduate in March 2017 with experience in cancer, prenatal, and pediatric genetic counseling.

She has a background in research regarding inflammatory bowel disease and is currently working on her thesis project exploring healthcare providers’ interactions with FAP and Lynch syndrome patients. Originally from Southern California,

Lauren is always looking for the next great restaurant to try and enjoys hiking and swimming with her dog, Riley.

Kendra Fromme, a budding genetic counselor, also from Northwestern, is conducting a research study on fertility preservation. Please click here for the link to the study! Please feel free to contact her with any questions. Thank you!



The stellar documentary Pink and Blue is coming to Chicago on December 1st and Amy Byer Shainman, Ellen Matloff, and I will all be there! Ihavelynchsyndrome.com is honored Pathway Genomics is sponsoring Chicago’s screening of Pink and Blue!

Please click here for more details! Please be sure to purchase your tickets in advance!


Pathway Genomics is dedicated to innovation and is a leader in the genetic testing industry!

It offers the BreastTrue® High Risk Panel — a next-generation sequencing test with deletion/duplication analysis to detect mutations in seven high-risk breast cancer susceptibility genes, including BRCA1, BRCA2 and PALB2.

Recent studies of breast cancer survivors have shown that approximately 70 percent of the mutations identified were BRCA1/2 mutations. Approximately 4 percent had germline mutations in other cancer-susceptibility genes, including high-risk genes. These additional high-risk genes include CDH1PALB2PTENSTK11, and TP53. Pathway Genomics’ BreastTrue® High Risk Panel analyzes all of these genes. Please talk to your doctor and a certified genetic counselor to see if genetic testing may be right for you. Please click here to learn more.

Happy Thanksgiving!


Georgia Hurst

Founder and Executive Director of the Nonprofit: ihavelynchsyndrome.org 501(c)(3)




What is PGD? How Can It Help Those with Lynch syndrome?

abstract illustration of the concept of medicine and science

What is Preimplantation Genetic Diagnosis and How Can It Help Those with Lynch syndrome? 

Preimplantation genetic diagnosis (PGD) was introduced in 1990 and has provided a way to screen embryos for genetic conditions, chromosomal abnormalities, and mitochondrial disorders. This method enables couples to perform an embryo genetic analysis before transferring the embryo to the uterus during an in vitro fertilization (IVF) cycle. Before the introduction of PGD, the only option available to couples with a hereditary genetic condition was to naturally conceive and then perform prenatal testing, such as a chorionic villus sampling (CVS) or an amniocentesis. Then the couple had the choice of continuing the pregnancy or selective abortion if the pregnancy was affected. With PGD, a couple does not have to make the decision to terminate an affected pregnancy, but rather select for unaffected embryos before pregnancy.

The process of PGD begins with IVF. In IVF, there are several rounds of hormone cycles performed to extract eggs from women. After joining of sperm and egg, or fertilization, the single cell starts to divide and grow. At day 3 after fertilization, embryos consist of 6-8 cells. One of these cells can be removed for testing. While there are many different forms of biopsy, removing one cell at day 3 is the most common form of biopsy, called a cleavage stage biopsy. Removing more than one cell can cause damage to the embryo, therefore one cell is only removed.

Once that cell is removed, PGD can be used to look at the genetic material of that cell. There are several different techniques available depending on what the embryo is being screened for. In the case of a parent with Lynch syndrome or another type of cancer syndrome, typically a process called polymerase chain reaction (PCR) is used to specifically look at the DNA of the cell to read through the code of the DNA and look for the mutation or genetic change that the parent has. While PGD is not perfect, it is continually improving its ability to accurately detect affected embryos at such a young stage.

There are many reasons why a couple will be referred for PGD. If a couple has had genetic testing and is known to carry a genetic mutation, then it is appropriate for them to be referred to PGD. Autosomal recessive conditions where both parents are known to be carriers for the genetic condition, such as Tay Sachs disease, Cystic Fibrosis, or sickle cell disease is appropriate.

In addition, autosomal dominant conditions like Lynch syndrome or Huntington’s disease, where there is a 50/50 chance of passing on the genetic mutation to posterity, is also indicated for referral to PGD. Lastly, it is common to be referred to PGD for X-linked conditions and parental balanced chromosomal inversions/translocations. It is not appropriate to pursue PGD if the parents have a medical condition but no definitive genetic diagnosis, or if a couple wants to test for non-medical physical traits like hair color or eye color.

There are benefits and limitations to using PGD, and for some couples this is a great option, and for others it is not. For a couple who is already undergoing IVF, the cost of PGD might be justified. However, IVF and PGD is quite expensive, and insurance does not always cover these costs. For some patients, the option of PGD will spare them the difficult decision to terminate an affected pregnancy or continue an affected pregnancy. In addition, there are ethical dilemmas that PGD causes as well.

One major ethical objection to PGD emerges from the need to create and then select embryos based on their genetic status. Some people will view this as “playing God” or having too much control of a child’s fate. Others view such a young embryo as too rudimentary in development to not take control of the child’s outcome. In addition, the unwanted embryos are usually discarded, which also raises ethical questioning. Some people’s religious or moral beliefs raise conflicts against discarding embryos, or even selecting for wanted embryos. However, PGD does prevent selective abortion of pregnancies, which can go against individual’s moral and religious beliefs as well.

While PGD has its advantages and disadvantages, this technique can provide a door for Lynch syndrome patients to remove the burden of passing on their cancer risks to their children. This decision to pursue PGD is personal to each individual family and should be carefully considered in relation to other family members and future children. If a family is considering pursuing PGD, speak with your doctor or certified genetic counselor about receiving more information.


  1. Wu, P., Whiteford, M.L., & Cameron, A.D. (2014). Preimplantation genetic diagnosis. Obstetrics, Gynaecology, and Reproductive Medicine, 24(3):67-73.
  2. Robertson, J.A. (2003). Extending preimplantation genetic diagnosis: the ethical debate. Human Reproduction, 18(3):465-471


Kendra Frome is currently a Northwestern genetic counseling student. She will graduate in March of 2017 with a Masters degree in genetic counseling. She has experience working with cancer, prenatal, and pediatric genetics. She has a special interest in fertility preservation and techniques for cancer patients, and is currently working on her thesis regarding partner perspectives on fertility preservation. She is originally from Oregon and enjoys spending time outdoors hiking, doing sports, and swimming.

A couple of great new, informative videos about Lynch syndrome are out in English and Spanish. Please click on the links below and feel free to share!

October is Breast Cancer Awareness Month.

If you have:

  • a strong family history of breast cancer or other cancers, especially before the age of 50
  • multiple family members on the same side of family with the same type of cancer
  • bilateral or multiple breast cancers in the same individual
  • both breast and ovarian cancer
  • male breast cancer or other rare cancers
  • Ashkenazi Jewish ethnic background
  • Other cancers associated with hereditary breast cancer syndromes

Please talk to your doctor and ask for referral to a certified genetic counselor to see if Breast True High Risk Panel Testing by Pathway Genomics is right for you. It is a next generation sequencing test that includes deletion/duplication analysis to detect mutations in seven high-risk breast cancer susceptibility genes, including BRCA1, BRCA2, and PALB2. For more information on the Breast True High Risk Panel, please go here: https://www.pathway.com/breasttrue/.


Recent studies of breast cancer have shown that approximately 70 percent of the mutations identified were BRCA 1/2 mutations. Approximately 4 percent had germline mutations in other cancer susceptibility genes, including high risk genes. These additional high-risk genes include CDH1, PALB2, PTEN, STK11, and TP53. Breast True High Risk Panel by Pathway Genomics analyzes all of these genes.

Please join on us, Thursday, December 1st in Chicago, for an exclusive, one-night only screening of Pink and Blue: Colors of Hereditary Cancer. Following the film, we will hold an informative Q & A session with medical professionals. 

Movie presentation of Pink & Blue: Colors of Hereditary Cancer

An emotional journey that takes us through the lives of women — and men — who are dealing with genetic mutations (BRCA 1, BRCA 2) plus their BRCA related cancers.  We meet doctors and their patients who make tough decisions about whether to have preventative surgeries or not.  Director Alan M. Blassberg tells the story of how hereditary cancer has ripped his family apart and what he must face as a BRCA 2 positive male.  The film highlights the message that men have the same 50/50 chance of inheriting a BRCA mutation as a woman and the lack of this information is deadly.  A higher percentage of men who have breast cancer die from it than women.  Dr. Kristi Funk, Angelina Jolie’s breast surgeon, speaks passionately about the need for awareness and thus, prevention.  We also meet those who ultimately don’t survive but speak with the hope that their passing will help save the lives of others.

For more information: https://www.tugg.com/events/pink-blue-colors-of-hereditary-cancer-ertt



Georgia Hurst

Founder and Executive Director of ihavelynchsyndrome.org


Women with Lynch syndrome: Graduate Research Study


Women with Lynch syndrome — Graduate Research Study

Patient advocacy is, among other things, the provision of information and support to empower patients to confidently take control of their health. While patient advocacy exists in all facets of healthcare, it is especially crucial the realm of hereditary cancer syndromes, where targeted patient education can save lives. Therefore, in order to be the best possible patient advocate, it is extremely important that healthcare providers are meeting the informational needs of this unique population. There is a lot of information to cover with newly diagnosed patients (both those who are diagnosed with cancer and those who are diagnosed through genetic testing): cancer risks, ages of onset, available treatments and therapies, screening strategies, risk-reducing surgery options, cancer genetics, inheritance patterns, referrals to other providers, available patient resources- the list goes on. With so many topics that need to be discussed, I began to wonder if healthcare providers were delivering the appropriate amount information at the appropriate time.

While researching the current literature, I quickly realized that there was a significant gap in knowledge about the informational needs of women with Lynch syndrome. There was very little research regarding the discussion of cancer-related fertility risks, fertility preservation and risk-reducing surgeries with this patient population. It was not clear whether or not patients were receiving enough information about these topics to make informed decisions. This is surprising for a number of reasons. Women with Lynch syndrome are at an increased risk of having colorectal cancer at a young age and the available treatments for this type of cancer can impact a woman’s fertility. For young patients with cancer, there are fertility preservation options available that can reduce the risk of infertility. Women with Lynch syndrome are also at an increased risk for endometrial and ovarian cancer, for which the guidelines recommend consideration of a hysterectomy (removal of the uterus) and a bilateral salpingo-oophorectomy (removal of the ovaries and uterine tubes). Aside from the obvious impact on fertility, these surgeries create a surgical menopause, which can cause a wide range of health problems. Unlike many other hereditary cancer syndromes, Lynch syndrome can be caused by five different genes, each of which have different cancer risks. These differences in risk values are important to be aware of, especially when considering risk-reducing surgeries.

Major healthcare organizations and professional societies have released guidelines recommending the discussion of these topics with women in this patient population. But, there is no research on how healthcare providers carry out these guidelines in their own practice. I also struggled to find any evidence to prove whether or not these topics were effectively being discussed with patients, based on their own report. However, I did find many patient stories, in support groups and blogs like this one, that discussed the overall lack of information received about these topics.  

Clearly evident on her website, Georgia has been tremendously honest and authentic about her experience with Lynch syndrome. She is an exemplary patient advocate, as the posts not only include her personal trials and triumphs but also provide a fountain of information and resources for other individuals living with Lynch syndrome. Her efforts have widespread implications: her sincere encouragement of others to take charge of their health care is empowering, and her frank recounting of her own health journey highlights a need for improved care for patients with Lynch syndrome. A central feature of this improved patient care is the need for better information delivery. I believe that such improvements will be possible if we gain a better understanding of the patients’ perspective, which will allow us to not only identify if current healthcare practices are successful but also identify areas for improvement.

If we don’t recognize the informational needs of our patients, how can we really call ourselves patient advocates? With my research, I hope to understand how women with Lynch syndrome are being educated about their fertility and identify ways to improve those conversations. By learning from your experiences, we hope to gather information that will help doctors, nurses and genetic counselors know how to address this complex topic in women with Lynch syndrome. I invite you to participate in this survey to share your opinions!

Thank you for your consideration.



Rachel Hickey

Genetic Counseling Program
University of South Carolina Class of 2017


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