G’s Book Review of The Gene By Siddhartha Mukherjee

G's Book Review of The Gene

G’s Book Review of The Gene

“Human beings are ultimately nothing but carriers — passageways — for genes. They ride us into the ground like racehorses from generation to generation. Genes don’t think about what constitutes good or evil. They don’t care whether we are happy or unhappy. We’re just means to an end for them. The only thing they think about is what is most efficient for them.” – Haruki Murakami 

Sid and I have something profound in common: “Scarcely a day passes in my adult life when I do not think about inheritance and my family, writes Sid.” He has a family history of schizophrenia; I have a strong family medical history of Lynch syndrome and early deaths — we both think about our familial genetics on a daily basis. I fell in love with Sid’s work back in 2013 when I devoured The Emperor of All Maladiesgoo.gl/xGcJLfThe Gene is his latest heroic effort to discuss the history of genetics and the implications that scientific advancements may hold for our genomes.

Sid. Is. Nothing. But. Brilliant.sid

He argues: “… it is impossible to understand organismal and cellular biology or evolution — or human pathology, behavior, temperament, illness, race, and identity of fate — without first reckoning with the concept of the gene.” Having a background in biological anthropology and science I know this, I understand this. Genetic mutations, both good and bad, are necessary for the intricate processes of evolution.

Early on in the book, Sid discusses the pillars of genetics including: the Ancient Greeks, Gregor Mendel, William Paley, Charles Darwin, Charles Lyell, Reverend Thomas Malthus and Alfred Russell Wallace. We are introduced to the father of the eugenics movement — Francis Galton.  Sid discusses history of eugenics and how people, mostly women, who were not deemed normal — ranging from dyslexics, orphans, prostitutes, and schizophrenics — were sterilized. Nazi Germany, along with Josef Mengele’s desire to eliminate “genetic detritus” is discussed. Honestly, I found this to be one of the most macabre, yet fascinating chapters of the book. My husband lost three of his grandparents in Auschwitz — I could not help but wonder if they endured the horrors Sid discusses.

This book is written for the layman but in all honesty, it is dense, deep, and long. Sid’s depth of knowledge and his uncanny ability to synthesize information from various subjects is overwhelming. As an advocate for those with hereditary cancer syndromes, I was happy to read that Sid shares my sentiments regarding inheritance. We inherit more than just our genes with our families — “…bad habits, bad recipes, neuroses, obsessions, environments, and behaviors.” I try to remind people with hereditary cancer syndromes about this all the time — consider the recommended risk-reducing surgeries per your mutation, be vigilant with your screenings, but also consider deviating from your family’s bad habits and behaviors, too. Cancer is the result of “hereditary, evolution, environment, and chance all mixed together,” writes Sid. Like I’ve always said, cancer is complex and a constellation of factors is involved in its development.

A few things more things I found interesting in the book…

  • The word “mutant — a word that implies not just statistical uncommonness, but qualitative inferiority, or even moral repugnance.” With the genetic testing skyrocketing and more people becoming familiar with their deleterious mutation status, this word must stop being used. Whilst we are at it, let’s change the insulting and demeaning language surrounding cancer, too. “Survivor,” “previvor,” “fighting cancer,” “losing the battle,” — medical lexicons — it all has to go.
  • My former professor on Human Sexuality from Northwestern University, J. Michael Bailey, a provocative and controversial figure, is mentioned in the book for his progressive work on homosexuality. Yes, unless you’ve being living in the Mesozoic Era, homosexuality has genetic roots. You may have recalled Professor Bailey in the news five years ago for his after-school sex toy demonstration with a naked woman. Sadly, this after-school demonstration was not offered to my undergraduate class.
  • Thank God for Sid. He does a stellar job of articulating the implications of what it is like knowing you hold a deleterious gene mutation as he hits the nail on the head. “The future of a woman carrying a BRCA1 mutation [or any other hereditary cancer syndrome] is fundamentally changed by that knowledge — and yet it remains just as fundamentally uncertain. For some women, the genetic diagnosis is all-consuming: it is if their lives and energies are spent anticipating cancer and imagining survivorship — from an illness they have not yet developed. A disturbing new word, with a distinctly Orwellian ring, has been coined to describe these women: previvors — pre-survivors … The prophylactic treatments — mastectomy, hormonal therapy — all entail physical and psychological anguish and carry risks in their own right.” This quote reminded me of Paul Kalanithi’s quote: “How little do doctors understand the hells through which we put patients,” from the book When Breath Becomes Air. As a Lynch + female, I greatly appreciate this observation and sentiment — this anguish he mentions was the impetus for me to write about my experience with Lynch syndrome. The great lengths, which we, patients, with hereditary cancer syndromes go through to prevent cancer, are often minimized and disregarded. Much gratitude for bringing this to everyone’s attention, Sid.
  • Genetics are complex and fascinating. Medical advancements and genetic editing technologies are raising complicated ethical and moral questions — and this becomes even more complex across cultures.
  • We must realize and accept that “humans will produce variants and mutants; it’s an inextricable part of our biology … normalcy is the antithesis of evolution.”
  • By the way, even though Sid does not mention this in the book, surely an oversight, men are also at risk for BRCA and other hereditary cancer syndromes. Hereditary cancer syndromes are deemed autosomal dominant meaning that a male or female carrier can pass these deleterious mutations onto both their daughters and sons. Each child of parent carrying a deleterious mutation has a 50/50 of having that mutation, too.

This is a must read for those interested in genetics — I highly encourage all of those who advocate for those with hereditary cancer to read this book.


Did you know ihavelynchsyndrome.org has a Facebook page? Read the latest reviews about ihavelynchsyndrome.org‘s advocacy efforts! https://www.facebook.com/ihavelynchsyndrome/reviews

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

To learn more about Pathway, its hereditary cancer products, information regarding genetic counseling, and the genetic testing process, please go to: https://www.pathway.com

pathwayYours,

Georgia Hurst

Founder and Executive Director of the nonprofit: Ihavelynchsyndrome.com

What do BRCA and Lynch syndrome have in Common?

Sexy woman sitting with the back to the camera, showing her hands.

A few years ago, Karen Malkin-Lazarovitz, founder of the BRCA Sisterhood on Facebook, reached out to me and asked me if I would be interested in being an administrator for the group. The BRCA Sisterhood is the largest BRCA Facebook support group for women, with almost 7,000 members – it’s an incredible resource for those who have been recently diagnosed with BRCA and are considering options for how to proceed. Karen’s group includes women from all over the world who share their stories, decisions, and intimate details of their lives. Since I have had my own share of issues following the removal of my ovaries, this group has also been a huge source of support for me. In addition, I have gained tremendous insight into the reality of what life is like when you carry a BRCA gene mutation. It may shock some of you but if I had to pick between BRCA mutations and MLH1 (one of the five Lynch mutations), I would stick with MLH1.

When Karen reached out to me it was because many women in the group who were undergoing genetic testing for BRCA discovered they, in fact, had one of the five known Lynch syndrome mutations. There were also a few women in the group who carried both a BRCA mutation and a Lynch syndrome mutation. Karen understood the need to have someone with Lynch syndrome as part of the administration team. While cancer risks and implications differ between Lynch syndrome and BRCA, there happen to be many parallels between the two conditions. Many women who carry a mutation in BRCA or Lynch syndrome undergo similar prophylactic measures – specifically regarding the removal of the uterus, ovaries, and fallopian tubes.

However, many BRCA positive women also undergo prophylactic double mastectomies to drastically reduce their risk of breast cancer. Some opt for breast reconstruction with the hope of trying to regain some level of physical normalcy. While these BRCA positive women may be reducing their breast cancer risk by having their breasts removed, many also suffer long-term consequences as a result of their breast surgery or reconstruction. Some women report chronic pain in their upper body, a loss of upper body strength, and/or a lack of sexual sensation in their chest. Some women opt to keep their nipples, others have 3-D nipples tattooed, while others decide to forgo nipples altogether. After my ovaries were removed, I felt highly defeminized–so I cannot begin to fathom how women with BRCA gene mutations who undergo mastectomy feel, specifically those who cannot afford to undergo breast reconstruction, as that would be something very important to me.

Not everyone has access to Angelina Jolie’s breast surgeon or top-notch medical care or can afford to take extended periods of time off of work. Not everyone understands that women with BRCA gene mutations are not simply having “boob jobs.” Women are doing this to save their lives. Mastectomy and breast reconstruction can be a long, arduous, painful process. Plastic surgeons’ skills and aesthetics vary. Just like any other profession, there are those that are great and those that are not so great. A patient can be thrilled with her final results or a patient can be unsatisfied, or even disfigured, which then only brings on a constellation of other problems – financial, physical, and emotional.

The one thing that concerns me deeply is that many women and men with BRCA mutations may know they are carriers and the women are going to great lengths to reduce their breast and ovarian cancer risks but are not being properly screened for other cancers for which they are still at risk. Men can also carry and pass on a BRCA gene mutation to daughters AND sons. Other cancers associated with BRCA mutations include: the pancreas, stomach, colon, melanoma, and the prostate in men. In addition, one in 43 Ashkenazi Jews are BRCA mutations carriers. Unfortunately, many Jewish people have significant medical gaps in their family medical history due to losing their families in the Holocaust and may therefore not have a complete family history, that may have tipped them off to being at increased risk.

For example, it is recommended that screening for colorectal cancer for women and men with a BRCA1 mutation be initiated at an age of 40 years but I have found most BRCA carriers don’t know about this risk for colon cancer. According to Ellen Matloff M.S., CGC and President of My Gene Counsel, “Some studies have suggested that women who carry BRCA mutations are at increased risk for colon cancer, especially if they have a strong family history of the disease, while others show no increased risk. Although national guidelines do not recommend additional colon screening for BRCA carriers, it is recommended that carriers explore their family history for colorectal cancer and, if there is a strong family history and/or cases diagnosed before age 55, speak to their physicians to see if they qualify for additional and/or earlier surveillance.”

More than this, most women who are having genetic testing are not even meeting with a certified genetic counselor; their doctors are not referring them to one. Even if you have undergone the prophylactic surgeries, please be sure to seek out a certified genetic counselor so you may better understand your particular genetic mutation as well as ensure that you are undergoing the correct health screenings. Appropriate health screenings, even after surgeries are still important to maintain your health. This way, if cancer occurs, it may be detected as early as possible when it’s most treatable.

Works Cited:

http://www.nature.com/bjc/journal/v110/n2/full/bjc2013741a.html

http://oncology.jamanetwork.com/article.aspx?articleID=2445346

http://www.nature.com/bjc/journal/v110/n2/full/bjc2013741a.html

I would not be able to do my advocacy work without the generous support of Pathway Genomics. They recognize the importance of genetic testing, certified genetic counselor, and ihavelynchsyndrome.org’s mission — to save lives through education and raising awareness about Lynch and helping fill in the medical gaps for those who need it the most.

To learn more about Pathways Genomics High Risk Panel for BRCA mutations, please go here: https://www.pathway.com/hereditary-cancer-tests/#brcatrue

Yours,

Georgia M. Hurst

Founder and Executive Director of the nonprofit: ihavelynchsyndrome.org

 

Mayo Clinic Vist 2016

Mayo-clinic-logo

Mayo Clinic Visit 2016.

I went to Mayo Clinic at the end of May for my annual screenings and many of you on Facebook and Twitter asked that I share my experience. Mayo Clinic in Rochester, Minnesota has doctors who know about Lynch syndrome – they know which screenings and tests are needed for specific mutations — I cannot recommend them enough. I am confident I am receiving the best care possible there and encourage others with Lynch to go there as well. You may have all your screenings and tests done within a matter of a few days by doctors who are well versed in Lynch syndrome protocols. Please note there are financial assistance programs available at Mayo for those in need.

My mutation is MLH1 and the following tests and consults were recommended for my particular mutation, my family medical history, and my personal needs: a blood test, urine test, mammogram, bone density scan, endoscopic ultrasound, colonoscopy, upper endoscopy, gynecological consult, an urogynecological consult, and a dermatological consult.

I met with my nurse Sheila Buhler. She and I went over my health for the past year. I complained of lethargy, nausea, and anxiety – all of which I attributed to my recent scanxiety. Sheila listens to me and doesn’t discount or minimize anything I tell her.

If you have had your ovaries removed and are feeling lethargic, I highly recommend going to the Women’s Clinic at Mayo. They completed a full assessment and blood test. Even though I am on a hormone replacement patch, Mayo found that my estrogen level is at a level comparable to someone not taking any estrogen. They increased my HRT dose and recommend I place the patch on my butt (over a muscle) instead of on my abdomen. I found this very disheartening and cannot imagine how many other women are in comparable positions suffering in silence simply because their hormone levels are not being properly assessed.  

Every since my hysterectomy and oophorectomy five years ago, I have noticed that my bladder is not emptying, or voiding, completely. I was seen by urogynecology and diagnosed with pelvic floor tension myalgia — physical therapy has been recommended to remedy this. I am pretty sure that I am not the only woman experiencing this and that is why I wanted to share. Please talk to your doctor if you feel you are having issues with your bladder after your hysterectomy and oophorectomy.

During my scopes, a small 2-mm gallbladder polyp was found along with a 7-mm gallbladder stone – neither were removed. Prior to my visit to Mayo, I had been suffering from a high level of anxiety and was nauseated for over a month. My endoscopy showed that I have Barrett’s esophagus. The high dose of aspirin I take on a daily basis, coupled with anxiety is probably partially responsible for this. It was recommended that I take omeprazole and Pepcid® for the next few weeks and that I learn to manage my stress better.

A pic of my colon...

A picture of my colon.

Usually it is recommended for those with Lynch to have a chromoendoscopy in order to detect the flat polyps, for which we are at risk. My scope revealed a small, flat colon polyp, which was removed and biopsied – thankfully it was detected and it was benign.

My gallbladder indicated a 2-mm mucosal polyp, as well as a 7-mm gallbladder stone. Those will continue to be monitored. My dermatologist removed a 5-mm mole from my central abdomen, which was also found to be benign. I also had my first bone density test (a very easy test, all you do is lie on a table for a few minutes) and found out some good news! I do not have evidence of osteopenia or osteoporosis at this time.

I was there for a total of four days – I had all my tests done within a short amount of time by doctors who know their stuff. My scanxiety is gone. Gone. Gone!

I am still a previvor at 45, no cancer. Frequent, meticulous screenings are absolutely imperative for those of us with Lynch syndrome and unfortunately only about 30% who know we have Lynch syndrome are being monitored properly. This saddens me tremendously because people are either developing cancer or dying unnecessarily from Lynch syndrome related cancers. 

Our next #Hcchat is coming up on June 29th at noon EST on Twitter! We are honored to have Dr. Vince DeVita as our special guest; he is an internationally recognized pioneer physician in the field of oncology. We will be discussing everything you need to know about the #Moonshot!

Gratitude to Pathway Genomics®! Thanks to them I was able to attend ASCO in Chicago soon after I returned from Mayo and had the pleasure of meeting some of their great staff and learned about recent advancements in oncology.

IMG_6614

Gary and me at ASCO16.

Immunotherapy was all the rage at ASCO. If you’re interested in learning more, Dana Farber has done a stellar job of putting all the major takeaways together from ASCO.

If you’re considering genetic testing, ask your genetic counselor or doctor about Pathway Genomics LynchSyndromeTrue. It is a hereditary cancer panel designed for individuals suspected to be at-risk for Lynch syndrome. Testing includes full sequencing of MLH1, MSH2, MSH6, and PMS2. Testing also includes the deletion/duplication analysis for these four genes as well as the EPCAM gene. Please note, there’s only a two-to-three week turnaround time, both blood and saliva are accepted, Pathway Genomics has a patient-friendly billing policy, and they have options for larger gene panels if needed. Pathway Genomics is deemed accurate and reliable by the College of American Pathologist’s (CAP) Laboratory Accreditation program. CAP accreditation assures compliance with the most comprehensive laboratory standards to maintain accuracy of test results for patients. Find out more about  LynchSyndromeTrue.

And most importantly? Pathway Genomics is involved in the #FreeTheData movement which is going to become more crucial than ever with the Precision Medicine Initiative and Biden’s Moonshot. Learn more during our upcoming #Hcchat on #FreeTheData.

Yours,

Georgia M. Hurst
Founder and Executive Director of the nonprofit: ihavelynchsyndrome.org

February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers

February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers

Do you have Lynch syndrome or a Lynch syndrome related cancer? Then you most definitely do not want to miss this #Hcchat on Twitter. We will be discussing immunotherapy and Lynch cancers with Stephanie Goff, MD,  from the NIH.

February 2016

February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers

If you are unable to participate then please note that you may access the transcript on February 19th here: https://storify.com/Hc_chat/hcchat-transcript

Twitter: https://twitter.com/Hc_chat?lang=en or on and 

Facebook: https://www.facebook.com/Hcchat-Hereditary-Cancer-Chat-870388953054442/?fref=ts.

Ever since Angelina Jolie was tested for ‘B-R-C-A’, the number of people seeking out genetic testing has skyrocketed. Some genetic testing companies are encouraging doctors to administer genetic tests without using a certified genetic counselor and this is highly problematic — especially since there is a low literacy rate of genomic understanding amongst doctors. Only 5% of primary care physicians feel confident in interpreting genetic test results and only 4% feel prepared to counsel patients who are considering undergoing genetic testing;

(http://(http://www.ncbi.nlm.nih.gov/pubmed/18496223

http://www.ncbi.nlm.nih.gov/pubmed/22278335).

If your doctor suspects that you have a hereditary cancer syndrome and wants you to undergo genetic testing then please do yourself a huge favor and ask your doctor for a referral to a genetic counselor; or, go to the National Society of Genetic Counselors website at nsgc.org to find one. A consult with a certified genetic counselor will help reduce the risk that your testing will be ordered or interpreted incorrectly, and will increase the chance that you’ll understand your options.  If you cannot travel to meet with one, then please contact informedDNA.com for a phone consult. Please feel free to reach out to me if you’re having difficulty finding one — I am more than happy to help you: http://www.ihavelynchsyndrome.org/contactgeorgia.

Also, please note that you can search topics from previous blogs on this website using the search bar on the upper right side near the social media icons. Hope you’re all well and able to join us on Twitter for #Hcchat on the 18th.

Yours,

g

The Beacon of Light and Hope for those with Lynch syndrome…

MomTGiving2011-5

The Beacon of Light and Hope: Marika

The Beacon of Light and Hope for those with Lynch syndrome….

The best part of being an advocate for those with hereditary cancer syndromes is having the privilege of getting to know some extraordinary souls. Last January, I received an email from a gentleman named Marco who had recently been diagnosed with Lynch syndrome; his mother Marika was suffering from kidney cancer – this was her third bout with cancer due to Lynch syndrome. Marika inherited Lynch syndrome from her mother who also had multiple Lynch syndrome related cancers. Marika’s mother managed to live until the ripe age of 90 until pancreatic cancer took its toll.

Marika has had an exceptionally challenging and fascinating life history. She was only 5 years old when World War II was raging in Europe; she lost her father when she was 8 years old, managed to survive starvation, and eventually moved to Italy with her mother to flee war-torn Hungary. At the age of 18, Marika appeared in a movie with Sophia Loren and was supposed to be in other movies until polio put the kybosh on her acting career. As a result of contracting polio, she lost much of her ability to use her legs — she must use a cane. Marika moved to the U.S. when she was 22, where she worked, married, and raised two children. Marika developed uterine cancer at the age of 51 and that was treated with a total hysterectomy. Then at the age of 65, she was diagnosed with cancer of the left kidney — that kidney was removed. A few years later, her husband of 44 years died from pulmonary fibrosis. A few years after that, Marika was diagnosed with cancer again — this time the cancer took up residence in her right kidney.  The chemotherapy she took failed her and she was told that her days were numbered.

Fortunately, her local oncologist knew of a clinical trial being offered in Sarasota, which she is currently on. She began the immunotherapy clinical trial months ago and has experienced significant tumor shrinkage; she saw a 50% shrinkage in just three months and is still experiencing shrinkage. The doctor has been overwhelmed with the positive results – her fate is currently unknown but with the tumors shrinking her life has been extended. Aside from a small rash, which was treated with hydrocortisone, this particular immunotherapy has held very few side effects for her. She feels better now than she has in years.

Other than her current affliction with cancer, and the lasting results of having had polio, Marika is in great shape at 80. She eats and lives healthfully and — even in her current state – she still conjures the inner strength to regularly swim and do yoga, as she has done so for decades. She abstains from consuming red meat or processed meat but does eat poultry, veggies, and grains.  While these epigenetic factors may not have prevented any of her cancers, they may have been responsible for the delay of their onset. Marika is very astute and spends her time reading, listening to classical music, and is highly interested in politics, and world affairs. She maintains a pretty busy social calendar with her friends – they are a tremendous source of joy and laughter in her life. Marika does not practice any religion.

Her biggest challenge with having Lynch syndrome is knowing that her son holds the mutation, her daughter fortunately tested negative. Lynch syndrome is autosomal dominant which mean that each child of a carrier has a 50/50 chance of inheriting the mutation. Marco has luckily never had cancer and has been of tremendous support to his mother. He moved back in with her a couple of years ago to help care for her and I believe Marco has been quite instrumental in her well-being; he’s a sharp, articulate, funny man who is highly involved in his mother’s medical decisions. He adds much-needed levity into her daily life. We should all be so lucky to have doting, selfless children in our later years.

Living with Lynch syndrome and its cancers is difficult. I check in with Marika frequently to see how she’s faring; I recently asked her how she manages to keep her head above the water with all that has happened to her … “Discipline and willpower,” she says with great confidence. I believe her immeasurable resilience, to her cancers and issues, stems from her early challenges: struggles during and after the war, losing her father, and her lifelong struggle with polio. Marika is a remarkable force — she is adaptable and immeasurably resilient.

Her advice to other patients in her charming Hungarian accent: “Live every day, have hope, don’t dwell the negative … you can sit and stare at the walls and feel sorry for yourself, or go out and live.”

Thank you, Marika for taking the time to talk to me and sharing your story with the Lynch community. You are truly a ray of sunshine on the Lynch syndrome horizon – you give me tremendous perspective. I hope your story gives others hope and perspective, too.


Ellen, Amy and I recently had our #Hcchat in October with Tim Rebbeck, PhD from Harvard, regarding all the latest news for those with BRCA. Please click here to read the transcript: https://storify.com/Hc_chat/hcchat-transcript-10-28-15

Hope you’re all well and enjoying the fall.

Yours,

Georgia

Founder and Executive Director of the Nonprofit: ihavelynchsyndrome.org.


 

From Awareness to Action: A Petition Calling on Myriad Genetics …

1From Awareness to Action: A Petition Calling on Myriad Genetics to Free the Data by KJ Surkan, PhD

It’s October again – Breast Cancer Awareness Month – and in 2015 I have to wonder, what exactly does that mean? Is there really anyone left in this country who has not been touched by this disease, who still needs to be made aware of it? The White House went pink on Friday to honor the 1 in 8 women in the U.S. who will develop breast cancer. That is an astounding number of people, and one that does not seem to be diminishing as time goes on. I think it is time to move from awareness to action, and that is why I’ve launched a petition this week (http://chn.ge/1Q7PeAm) calling for Myriad Genetics to share the BRCA data it has been hoarding for the past 11 years.

BRCA Patents and the Price of Genetic Tests

Perhaps some people still are not aware that Myriad Genetics patented the BRCA1 and BRCA2 genes, and made these patents central to its business model by effectively ensuring that it had a monopoly on all BRCA testing from 1994-2013. This monopoly came to an end in the U.S. when the Supreme Court invalidated its patents in Association for Molecular Pathology vs. Myriad Genetics. During the period in which it had no competition, Myriad set the price of genetic testing for BRCA mutations, making it inaccessible to most who were uninsured and those whose insurance companies refused to pay for the test. The company is now publicly traded and reported a gross profit of $575.7 million in the 2015 fiscal year.

They also controlled further testing on these genes, including the detection of large rearrangements and deletions in both genes, delaying the introduction of rearrangement testing by several years. This directly and negatively affected the health of low-income women who unknowingly carried a genetic risk of up to 87% of contracting breast cancer, and up to 40% of ovarian cancer in their lifetimes. With the subsequent emergence of competing testing companies (and newer technology), the cost of BRCA testing has dropped dramatically.  Tests are now on the market for $199 (Veritas) and $249 (Color Genomics).

Data Hoarding for Profit

Many people believed that the free market would solve the negative health outcomes of Myriad’s price-fixing once the patents were invalidated and other companies could compete, and this has largely turned out to be true. But Myriad anticipated the end of their monopoly, reasoning that in any case their patent would expire in 20 years (1994-2014 for BRCA1). So the company did something preemptively in 2004 to keep its genetic test competitive as other testing companies entered the market: Myriad decided to stop sharing BRCA genetic data with clinicians and researchers.

By so doing, Myriad has extended its monopoly in a new way, with serious consequences for understanding and even arriving at a clinical interpretation of BRCA variants. Based in large part on more than a million tests it conducted during its US patent monopoly 1998-2013, Myriad has amassed an enormous amount of genetic data. However, in 2004, Myriad stopped sharing its data, and its last major publication extended only through 2006.  Myriad continues to refuse to share data about BRCA variants with open clinical and research databases, ignoring pleas by oncologists, genetic counselors, public health officials, and consumers to contribute to the ongoing research.

In August 2014, Karen Iris Tucker reported on the data-sharing problem for Forward.com, explaining that to make accurate risk determinations for people testing positive for BRCA variants of unknown significance (VUS), vast amounts of data are needed. In her article, Tucker quotes Judy Garber, director of the Center for Cancer Genetics and Prevention at the Dana-Farber Cancer Institute, who says of Myriad, “This is not the way that most genetics work has taken place and the fact that they have data on these variants that are hard to interpret that they have not shared has generally been really disturbing to the medical community.” (http://forward.com/culture/203739/genetics-lab-refuses-to-share-data-that-could-save/)

Data about genetic mutations should not be ‘“trade secrets.” Myriad Genetics has built its business model around data hoarding, aiming to force consumers into using it over other genetic testing companies because they claim their tests are superior in discerning which variants confer risk. Oncologists often feel obligated to order tests for their high-risk patients from Myriad for that reason.

Genetic Testing, Precision Medicine, and the Future

Aside from impacting the fraction of the U.S. population that actually carries a BRCA mutation (myself included), why should we care about Myriad’s data hoarding and genetic testing business model? To answer that we need to turn to precision medicine, and think about what genetic testing will mean for health care in our future.

So let’s talk genetics. A small but significant percentage (5-10%) of breast and ovarian cancers are thought to be hereditary. As oncologists are fond of saying, “all cancer is genetic, but only some cancers are hereditary.” Yet it is through studying the genetics of hereditary cancer that we are making progress in understanding key elements of this disease, and beginning to identify new treatments like PARP inhibitors that exploit mutations in tumor cells, whether somatic or germline. What this means in plain English for breast and ovarian cancer patients is that drugs developed specifically for BRCA+ patients may also help those who are BRCA negative if their tumor has a BRCA mutation, or has what is called “BRCAness,” a biological condition of tumors resembling BRCA1 or BRCA2 deficiency.

These kinds of breakthroughs are the basis of what is now being called “precision medicine,” in which we are moving away from a “one size fits all” model of treatment to a model of targeted therapies. Here is the point – genetic testing is going to play a critical role in this new way of diagnosing and treating cancer, and that is why we have to get this right. We cannot allow greedy corporate entities to put profits before people with the aim of increasing their market share above all else.

To arrive at answers quickly, we need to harness the power of big data, enabling us to discover correlations between genetics and patient outcomes. As more links between genetic mutations and diseases are discovered (and particularly in cases of rare diseases, where the overall number of cases is fewer), data sharing will be critical in establishing accurate assessments of risk and causality. We can’t let a company set this kind of precedent, putting profit before the advancement of knowledge about the relationship between genetic mutation and life-threatening disease.

Please sign and share this petition at http://chn.ge/1Q7PeAm to send that message loud and clear.


Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it’s the only thing that ever has.

– Margaret Mead


Gratitude to KJ Surkan for sharing this vital information.

Please mark you calendars. Our next #Hcchat is coming up.

#Hcchat with Tim Rebbeck, PhD.

#Hcchat with Tim Rebbeck, PhD.

Dr. Henry T. Lynch Symposium: Advances in Hereditary Cancer — Summary by G

DrHenryLynch

Dr. Henry T. Lynch Symposium: Advances in Hereditary Cancer

The Henry T. Lynch Symposium: Advances in Hereditary Cancer took place last week in Omaha – it was highly informative and moving. The outpour of love and admiration for Dr. Lynch and his work was overwhelming. This post is basically a summary of the most important take-aways from the conference. These comments were extracted from the talks which were presented — the presenter’s name can be found in parentheses.

  • Lynch syndrome registries increase the quality of care for Lynch syndrome patients (Vasen).
  • Those with mutations MSH6 and PMS2 have lower rates of colorectal cancer and endometrial cancer in comparison to those with the other Lynch mutations (Vasen).
  • For those with MSH6, the risk for other cancers is lower in comparison to other mutations (Vasen).
  • Psychological and emotional issues regarding a Lynch syndrome diagnosis still exist today; however, improved screening measures and confirmation and clarity of risk some of the uncertainty have been reduced (Snyder). G’s note: I disagree, I think this is dependent upon whether or not people have access to genetic counseling and what their family history with cancer looks like. Socioeconomic disparities are all too common and are very problematic for many — not everyone has access to doctors who are well-versed in Lynch screening.
  • There is federal protection for those with hereditary cancer syndromes for health insurance and employment discrimination; however, this is not applicable for those seek life insurance or long term disability insurance (Snyder). G’s note:  Please go here for more info: http://www.eeoc.gov/laws/statutes/gina.cfm
  • As more people are being tested, more people are being testing with VUS’s -> variance of unsignificance (Snyder). G’s notes: This can be very problematic and stressful and this is why I encourage people to seek out genetic counselingIf you live in a rural area, genetic testing companies such as Informed DNA can provide you with phone consults; please go to www.informeddna.com/ for more information.
  • There will be about 132,70000 new cases of colorectal cancer in the U.S. in 2015; about 4,000 of them will be the result of Lynch syndrome (Hampel).
  • A website to check out: lynchscreening.net. Mission: To promote universal Lynch Syndrome screening on all newly diagnosed colorectal and endometrial cancers (Hampel).
  • There are challenges within families for getting them to get genetically tested – lack of communication, not everyone lives in the area, no follow-up to determine whether or not people pursued genetic counseling or testing (Hampel).
  • Hampel attended a family reunion in 2014 for a family with Lynch syndrome and was able to test 20 at-risk relatives (Hampel). G’s note’s: this was a stellar “thinking outside of the box approach” for the genetic testing of families. 
  • A prophylactic colectomy at age 25 for those with Lynch syndrome offers a survival rate benefit of 1.8 years compared to having frequent colonoscopies. The special circumstances for this procedure is recommended for include: difficult colonoscopy, poor compliance — meaning the patient will not be vigilant with getting their screenings,  a high psychological fear of cancer, and a high occurrence rate of early onset cancer within one’s family (Church). G’s note: you’re better off getting an annual colonoscopy instead of removing your colon. The quality of your life may change significantly, losing your colon can make you incontinent, hold implications for your sex drive, and many people complain of chronic pain. You want to consider keeping your healthy colon for as long as possible.
  • Colonoscopy for those with Lynch syndrome should be between the ages of 20-25 or 2-5 years prior to earliest case of colorectal cancer; should be repeated every 1-2 years (Lanspa). G’s note: there is tremendous disagreement about the frequency of colonscopy for those with Lynch syndrome, Mayo recommends annual scopes.
  • Endoscopes and colonscopes have improved in order to detect polyps; chromoscopes (scopes with dye) are far more successful for detecting polyps than regular scopes. (Lanspa). G’s note: Please be sure your doctor(s) are using chromocolonoscopy and chromoendoscopy for your scopes! The dyes used for these scopes seem are more promising.  There is still no established surveillance technique, which is a big problem.
  • Asprin is highly effective in the prevention colon polyp formation: 600 mg/day for 2 years reduced Lynch syndrome cancers at 5 years by over 50% (Burn).
  • Obesity increases your chances of developing colon cancer (Burn).
  • Asprin prevents cancer and according to Sir John Burn, taking aspirin is as safe as having a regular colonscopy; start with a low dose of aspirin and see how well you tolerate it – then work your way up. Your chances of fatality due to taking a high dose of aspirin increase dramatically after age 70 (Burn). G’s note: Please talk to your doctor first!
  • Olopage gave the most interesting, enlightened talk of the conference and discussed how the “one size fits approach” to genetics is inappropriate — sound familiar? We need to reach poor women, African-Americans, Hispanics, and Latinas as they are more likely to die from cancer in comparison to other populations (Olopage).

There was not much talk on other preventative measures such as diet, exercise, stress reduction and I believe it would have been wonderful to have a psychologist who is seasoned in dealing with those with hereditary cancer syndromes — many doctors simply don’t understand the emotional gravity of what it’s like for patients to have a hereditary cancer syndrome.

I managed to attend both days of the conference and on the third day was able to sit down with Dr. Lynch to discuss the swath of issues surrounding Lynch syndrome – here in the United States and abroad. I am hoping we can collaborate with doctors, genetic counselors, and other advocates very soon to address these issues. I’ve said it before and will say it again, Lynch syndrome will never get its props like B-R-C-A until we’re all on the same page and present a united front — just like most of the B-R-C-A community.

Another thing which I would like to bring your attention to … I have another charming genetic mutation called Familial HypercholesterolemiaThe reason I bring this is up is because #FH Awareness Day in September 24, 2015 and it, like Lynch syndrome, it is in dire need of attention.

FH “is an inherited disorder that leads to aggressive and premature cardiovascular disease. This includes problems like heart attacks, strokes, and even narrowing of our heart valves. For individuals with FH, although diet and lifestyle are important, they are not the cause of high LDL. In FH patients, genetic mutations make the liver incapable of metabolizing (or removing) excess LDL. The result is very high LDL levels which can lead to premature cardiovascular disease (CVD).” For more information, please go to => https://thefhfoundation.org for more information. (Source: https://thefhfoundation.org)

FH Awareness day

On a final note, we had our #Hcchat on September 9th; please click here to read the transcript:

https://storify.com/Hc_chat/hcchat-transcript-9-9-15?utm_campaign&utm_source=t.co&utm_medium=sfy.co-twitter&utm_content=storify-pingback&awesm=sfy.co_d0kLr

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Yours,

Georgia

Letter From A Newly Diagnosed Lynch Syndrome Patient …

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Letter From A Newly Diagnosed Lynch syndrome Patient …

Hi Georgia,

I’m writing to let you know how very much your advocacy efforts for hereditary cancers have meant to my family and me.

I lost my precious mom in November of 2013 to colorectal cancer and just 6 months later found out that I had endometrial cancer. It was just unimaginable. After having a hysterectomy that successfully removed my cancer, I had genetic counseling and testing and found out that I have Lynch syndrome. The diagnosis was devastating. I immediately began looking to find any and all information I could about Lynch syndrome. That’s when I found your website.

After submitting some questions on your site, I received your response and an invitation to speak personally with you on the phone. Your advice on seeking healthcare providers who are well versed in hereditary cancers has made a huge difference for me mentally, physically and emotionally. I am also making lifestyle changes as a result of talking with you and I feel better overall as a result.

You continue to have people from all over the world sharing their stories which inspire me and make me feel “not so alone” in this. I’ve also learned a lot from the tweet chats which provide a unique opportunity to hear from a variety of experts in the field.

You’ve helped me through a very dark time and I feel like I’m putting my life back together now.

We can all help each other yet there are so many people who know their family history and communicate it but their physicians may not make the connection.
That’s why it is so important to continue to get the message out and even reach a broader audience! You give so much of yourself and your time.

I just can’t thank you enough.

Sincerely,
Janet Davis

Ellen Matloff Unplugged

Ellen Matloff Unplugged

Ellen Matloff Unplugged

I was on the phone one day last winter with Amy Byer Shainman, my BRCA #BFF, and we were talking about starting #Lschat (Lynch syndrome Chat) on Twitter. Lynch syndrome was in dire need of a strong media presence on Twitter and so that is when I decided to begin #Lschat (Lynch syndrome chat). Amy and I had participated on various other Twitter chats and wanted to mix things up a bit by bringing an expert onboard; I wanted to be sure we were providing our audience with the correct information and to give them the opportunity to ask experts from the fields of our topics any questions they may have.

If you’re interested in genetics and the politics behind them, then chances are you know the name Ellen Matloff — a.k.a. genetic counselor extraordinaire. I tend to think rather big — and so I asked Amy: “How about we call Ellen Matloff and see if she’s interested in working with us?” Amy thought I was nuts, we called her, and then Ellen jumped on our #Lschat train. After a few successful #Lschat’s, we decided to focus on various hereditary cancer syndromes — not just Lynch syndrome — because of the many parallels between them. Whilst I am an advocate for those with Lynch syndrome and Amy is one for those with BRCA, we’ve decided that all hereditary cancers warrant the same attention. #Lschat evolved into #Hcchat — our chats always include Ellen and usually an expert on the topic being discussed.  To date, our last #Hcchat has made over 70 million impressions on Twitter.

And so, it is with great pleasure I bring you the interview I recently had with Ellen Matloff…


G: Ellen, you’re well known in the genetics and hereditary cancer worlds because you were an outspoken plaintiff in the BRCA patent case that went to the Supreme Court.

E: Well, thank you. I saw the negative impact of the patents on patients, clinical care and research and I’m passionate about the topic. I’m also good at ‘outspoken’.

G: Yes! We love that you speak the truth and that you stand up for patients!

But other than being a plaintiff and a cancer genetic counselor who has published a lot in hereditary cancer, we don’t know much about what you’ve been up to since leaving Yale and clinical practice. But let’s start with some history. How did you end up in genetic counseling?

E: I learned of genetic counseling during my sophomore year at Union College when a local genetic counselor gave a lecture to my Genetics class. The combination of science and psychology fascinated me. I did a genetics internship at Albany Medical School and I was hooked!

G: What made you go into cancer genetics, specifically?

E: My first job was actually in general and pediatric genetics at SUNY Health Science Center in Syracuse, NY. I did a lot of work with Cystic Fibrosis families and I’m still in touch with many of them. I learned a great deal about general genetics. But the field of cancer genetics was beginning to crack open and I saw an opportunity. The then Director of Yale Cancer Center, Vince DeVita, recruited me to start their program, so I packed my things and moved to Connecticut.

G: Was Yale eager to have you start a Cancer Genetics Program?

E: Hmm, not so much. There were a few visionaries, like Dr. DeVita, who knew this was the wave of the future, and they supported the movement. But I was surprised at the reluctance of many clinicians and patients to launch genetic testing. Remember, it was 1995 and many saw the whole thing as ‘fortune telling’ and ‘Pandora’s Box’. I gave a lecture to a group of research clinicians when I arrived and mentioned the option of prophylactic surgery for people who carry mutations. A research nurse yelled out in the middle of my lecture that I was ‘suggesting the mutilation of their patients’. I was shocked. Not only were there data to support this option, but also patients were having such surgeries based on family histories alone! Over time colleagues began to trust me and to trust genetic testing, and over 18 years we built one of the best programs in the country.

G: So 18 years later you were the Director of one of the most successful and visible Cancer Genetic Counseling Programs in the world. What made you leave?

E: To be honest with you, I never thought I’d leave. I was so invested in our patients, the clinicians I worked with, and my staff — I would have bet you a million dollars that I’d be sitting in that chair for the next 25 years. But the climate changed and I started exploring Plan B. It was then that I saw the opportunity of My Gene Counsel laying ahead.

G: What was the opportunity?

E: Much of my research had focused on adverse events in genetic testing. Meaning, what happens when people misinterpret genetic test results? We collected cases from all over the country of patients whose test results were misinterpreted and they’d had prophylactic surgeries they didn’t need, or had been diagnosed with late-stage cancers because they’d been falsely advised that their results were normal.

G:  What? How terrible!

E: Yes. And what is even more terrible, the frequency of these errors is increasing because genetic testing is becoming more complex, is being ordered more often, and the overburdened clinicians ordering that testing have little knowledge of genetics. Add to that President Obama’s Precision Medicine initiative and the huge drive toward genetic testing in almost every area of medicine and you can see the two train tracks crossing.

G: That sounds like a train wreck, not an opportunity!

E: But it is an opportunity – an opportunity to prevent the train wreck! And that is what I saw very clearly. We need a digital health tool to accompany genetic test results to ensure that clinicians and patients interpret results accurately. That is what we’ve built at My Gene Counsel (mGC).

G: Wow. That is quite an undertaking. Will the mGC tool replace genetic counseling?

E: I’m so glad you asked that question … absolutely not. The mGC tool will help guide patients who’ve had genetic testing to certified genetic professionals. But it does a lot more than that. It will help clinicians and consumers effectively utilize genetic test results and stay up-to-date.

G: How have you built the mGC tool?

E: We’ve built it using lessons learned from many years of clinical experience in the field, and with the help of active clinicians who are entrenched in this work. We’ve also had consumers on board since day one, and are building a tool around their needs.

G: A lot of companies, studies and initiatives give lip service to involving patients and Consumer Advocates, but few do it in a genuine and meaningful way. Why did you decide to involve us?

E: Honestly? Because over the past 20 years I’ve learned the most important lessons from my patients. My patients gave me cues about the problems in the field, what they needed, and the direction in which the field was moving — I just needed to listen. Consumer Genomics has never been stronger and any viable genomics product must involve consumers, and revolve around consumers.

G: Amy Byer Shainman and I approached you months ago about partnering with us to create #Lschat (Lynch syndrome Chat) which is now #Hcchat (Hereditary Cancer Chat) on Twitter. Not many CEOs of a burgeoning start-up would have taken the time to partner with two Patient Advocates. Why did you?

E: I would have been crazy not to. You and Amy are two of the most active advocates for Lynch syndrome and BRCA, respectively. It was a great opportunity for me, and for My Gene Counsel, to become more embedded in the consumer communities and to really learn what you want, what you need, how you think. We’ve used that information to build and shape the mGC portal. I also love working with you and Amy, and the hereditary cancer community. 

G: How do you see the My Gene Counsel tool playing out as genetic testing evolves, and as precision medicine evolves?

E: I think that as this launches and becomes integrated, we’ll look back and wonder how we ever managed genetic testing without the mGC tool. Our nation and our health care system are investing so many resources into genetic testing and precision medicine — we can’t afford to have the critical information we gain from genetic testing to be misinterpreted.

G: This is exciting stuff!

E: Yes, we think so. We seem to be in the right place at the right time: genetics, precision medicine, digital health, and consumer genomics are all ripening at the same time. My Gene Counsel is at the crossroads of all four — we are very fortunate.

G: Ellen, thank you for your time, for working on #Hcchat with us, and for being on Ihavelynchsyndrome.com’s Board of Directors. The pleasure is most certainly all mine!

E: You are most welcome!


If you’re interested in Ellen Matloff’s work, please visit: http://www.mygenecounsel.com

On Twitter: https://twitter.com/MyGeneCounsel

And to follow #Hcchat (Hereditary Cancer Chat): https://twitter.com/hc_chat

Yours,

Georgia

Family Medical History

Pumpkins on white background

Since the holidays are approaching and many of you will be spending this precious time with your family members, I thought now would be a good time to discuss collecting your family medical history.

A family medical history is a record of health information about a you and your family. It includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins. If you have any information about great-grandparents then jot that down, too.

Families share many factors in common — genes, environment, and lifestyle which in turn may can give clues to medical issues that may run in a family. By noticing patterns of medical issues among relatives, your doctor or genetic counselor can determine whether an individual, other family members, or future generations may be at an increased risk of developing a particular condition.

A family medical history can identify people with a higher-than-usual chance of having common disorders, such as heart disease, high blood pressure, stroke, hereditary cancers, and diabetes. These complex disorders are influenced by a combination of genetic factors, environmental conditions, and lifestyle choices. Acquiring this information helps you to take steps to reduce your risk. If you are at increased risk for certain cancers, especially for those related to Lynch syndrome, your healthcare professionals may recommend genetic counseling and genetic testing. If you do hold one of the five mutations for Lynch syndrome or other hereditary cancers, more frequent screenings will start at an earlier age. Please note, even if you have a strong family history of cancer, lifestyle changes such as adopting a mostly plant-based diet, regular exercise, and not smoking help many people lower their chances of developing many diseases and illnesses.

A family gathering is an optimal time to discuss these issues — most people are together with their families and there are usually multiple generations present. If you’re lacking information within your family tree, documents such as obituaries and death certificates can help you fill in the gaps. It is important to keep this information up-to-date and to share it with your other family members and healthcare professional regularly.

Even if you know you have Lynch syndrome your family medical history information may be very helpful to you, your children, your grandchildren, and to the doctors caring for you. You may also gain insight into other medical issues which may affect your family.

The National Society of Genetic Counselors has a great resource for us to help with this process; please click on the following links:

http://nsgc.org/p/cm/ld/fid=143 

http://nsgc.org/p/cm/ld/fid=52

If you find these resources too difficult to use, try this other template:

http://www.docstoc.com/docs/135934622/Medical-History-Form—Emergency-Medical-Locatorsxls

In the meantime, I have been scouring the Internet for some tasty vegan recipes for the holidays and thought I would share some which I came across:

http://www.foodandwine.com/slideshows/vegan-christmas-recipes/1

http://www.nytimes.com/projects/well/vegetarian-recipes/#home   FYI: they put this out every year, the recipes are simple and amazing!

Vegan holiday recipes on Pinterest: http://goo.gl/L6GPkK.

Hope you’re all doing well — eating loads of plants, exercising and nourishing your inner child.

Happy Halloween to all of yous!

Go easy on the candy this weekend.

xogox

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