#Hcchat: Should We Test Minors for Hereditary Cancer Syndromes?

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#Hcchat: What About The Kids? Should We Test Minors For Hereditary Cancer Syndromes?

I’m honored to announce that Pathway Genomics is sponsoring #Hcchat on Monday. Much gratitude to them for also supporting ihavelynchsyndrome.com’s advocacy efforts. #Hcchat will be focusing on a controversial topic: Should We Test Minor Children for Hereditary Cancer Syndromes? I can assure you this #Hcchat will be very informative and thought provoking. If you’re interested in #Hcchat, you may also, want to know it’s important offshoot: #Hcchat (Hereditary cancer chat) News. It’s a monthly newsletter and a fantastic collaboration effort by all top the hereditary cancer syndrome patient advocates to bring you all the latest news, blogs, books, and much more on various hereditary cancer syndromes. Please find the link here: https://goo.gl/jt9NY7

Some interesting articles in the medical news lately and the most important one this past month has to do with Lynch syndrome screening. “In a recent study, few patients whose families met clinical criteria for hereditary non-polyposis colorectal cancer (Lynch syndrome) had undergone genetic testing, and only a small percentage of their doctors had given them appropriate screening recommendations.” This is a huge problem and why I cannot emphasize the importance of certified genetic counselors enough. A certified genetic counselor will let you know which mutation you have and which screening measures are needed for your particular mutation. They should also be able to assist you in find doctors who are well-versed in Lynch syndrome. Frequent, meticulous screenings are crucial for cancer prevention or at the very least, catching cancers early in those with Lynch syndrome when they are most treatable. Please go here to find a certified genetic counselor -> nsgc.org or contact me and I will help you find one. http://goo.gl/Y8WQlZ

Another interesting study came out about women with BRCA and osteoporosis …”Despite that carriers of BRCA mutations who undergo prophylactic oophorectomy are at risk for bone loss, these women are underscreened for bone mineral density, according to study results presented at the Society of Gynecologic Oncology Annual Meeting on Women’s Cancer. However, the use of hormone-replacement therapy lowered the risk for significant bone loss osteoporosis, results showed.” It is therefore recommended that those with undergo this prophylactic surgery to discuss bone density tests with their doctor and to consider having the test every two years for bone evaluation. I think it’s pretty safe to say that women with Lynch who undergo the prophylactic oophorectomy should consider discussing this issue with their doctor, too. For more: http://goo.gl/Yfxud5

Have you read the recent research regarding staying out of the sun? According to a recent study published March 21st in the Journal of Internal Medicine, you may want to consider spending a little more time in the sun. Contrary to popular belief, avoiding the sun like the plague is not a health benefit. Researchers studied nearly 30,000 Swedish women and found that nonsmokers who stayed out of the sun had a similar life expectancy to smokers who basked in the sun.  Sunbathers not only lived longer but if they did develop cancer, they fought it better than those who avoided the sun. Please click here to read the article: http://www.medscape.com/viewarticle/860805

I love apps — especially those, which are helpful in improving my behaviors, which contribute to my good health. I think those of us with hereditary cancer syndromes need to be more mindful about living the healthiest life possible. With that said, IBM and Pathway Genomics have teamed up to create an exciting and progressive wellness app to take precision medicine to an entirely new level with the Pathway Genomics OME app. It utilizes information from Pathways “FIT” Test, a test which analyzes over 75 genetic markers known to impact metabolism, exercise, and energy consumption use within the human body. It provides information to doctors and their patients in order to help them understand how genetics and lifestyle may impact their diet, nutrition, and exercise. Essentially, this app can be a highly useful tool by encouraging people to make positive changes to their health by giving them personalized insight in order to lead a healthier lives. As always, please talk to your doctor before making any major lifestyle changes with diet, or starting a new exercise program. https://www.pathway.com/pathway-fit/.

To learn more about their array of hereditary cancer tests, please go to  https://www.pathway.com/hereditary-cancer-tests/.


Those of you in or near Ohio with Lynch syndrome and Hereditary Breast and Ovarian Cancer syndromes … please save the following date!

April 30, 2016, Conference on Hereditary Breast and Ovarian Cancer) and Lynch syndrome

OSUWexMedCtr

“Our fourth Beyond Risk conference for individuals with Hereditary Breast and Ovarian Cancer (HBOC) and Lynch syndrome (LS) will be held this spring! This is an event designed specifically for people affected by these conditions and their families.  We will provide information and management updates promote early cancer detection and cancer risk-reduction.  We also hope to have time for you to make connections with others so you can meet other families share your stories, and support one another. Give my best to Heather Hampel my best and tell her G sent you!

Date:    April 30, 2016

Time:    10am – 2:00 pm (Lunch will be provided)

Location: The Fawcett Center, 2400 Olentangy River Rd., Columbus, OH 43210

Directions: http://www.fawcettcenter.com/page/directions

Check your mailboxes in the next few weeks for a registration brochure or contact us at genetics.clinic@osumc.edu for more information.”

https://internalmedicine.osu.edu/genetics/patient-care/clinical-cancer-genetics


Yours,

Please be sure to join us on Twitter on Monday, April 25th at noon EST for #Hcchat.

Yours,

Georgia Hurst, MA

Founder and Executive Director of the nonprofit: ihavelynchsyndrome.com (501c3)

 

 

Lynch Syndrome Awareness Day 2016

Lynch Syndrome Awareness Day 2016

Lynch Syndrome Awareness Day 2016

Lynch Syndrome Awareness Day is March 22nd and during Colon Awareness Month, it is important to note that 5% of all colorectal cancers are due to Lynch syndrome. Unfortunately, Lynch syndrome may hold implications for various cancers, dependent upon which mutation you hold. Lynch syndrome is an inherited cancer susceptibility syndrome caused by mutations in one of five DNA mismatch repair (MMR) genes. It is passed down in families in a pattern called autosomal dominant, meaning that each child has a 50% chance to inherit the mutation from a parent. Both men and women can have Lynch syndrome and can pass it on to their sons and daughters. Of the estimated 1 million Lynch carriers in the United States, only 5% know they carry a mutation. Mutation carriers have a substantially increased risk of cancers of the colon, rectum, and endometrium, which generally occur at younger ages than in the general population. Lynch syndrome also increases the risk of cancer of: the stomach, intestine, liver, pancreas, gallbladder ducts, upper urinary tract, brain, skin, and if you’re male, the prostate. Women with Lynch syndrome are also increased risk of developing cancer of the ovary, and the breast.

If your family medical history includes:

  • three or more relatives with cancer, specifically colorectal cancer, or cancer of the endometrium, small intestine, ureter or renal pelvis;
  • two or more successive generations have been affected;
  • one or more relatives diagnosed before the 50 years old;
  • one should be a first-degree relative (parent, sibling, or child) then please talk to you doctor and ask for a referral to a certified genetic counselor to access your risk.

Or, please go to The National Society of Genetic Counselors website at nsgc.org to find a certified genetic counselor near you or please feel free to contact me and I will help you find one. Please help me spread the word by sharing this post.


Recently, the Madding family made headline news when they lost Isabella, their THIRD child, to #CMMRD on February 6, 2016. There is a lot of misinformation circulating about this particular syndrome on the Internet. Ellen Matloff, MS, CGC, President and CEO of My Gene Counsel interviewed Erin Madding recently to set the record straight.

According to Ellen Matloff, MS, CGC, President and CEO of My Gene Counsel, “Lynch syndrome is an autosomal dominant condition. This means that a person who carries one copy of a mutation in any of the 5 genes known to cause Lynch syndrome is at increased risk to develop multiple adult-onset cancers, especially those of the colon, uterus and ovaries. A person who carries two mutations in the same gene of any of the genes associated with Lynch syndrome (MLH1, MSH2, MSH6, PMS2) has a completely different syndrome called Constitutional Mismatch Repair Deficiency (CMMRD). This usually occurs when that person inherits one mutation from the father and the other from the mother. This rare condition is associated with a high risk of early-onset cancers, including childhood onset cancers of the brain and blood. Café-au-lait spots (flat, light brown birthmark-like marks on the skin), are also common.”

You can read Ellen’s interview with Erin Madding in its entirety here: http://www.mygenecounsel.com/blog-recent-posts/2016/2/29/family-loses-3-children-in-6-years-to-hereditary-cancer-syndrome-cmmr-d-getting-the-facts-straight

When I initially began writing about Lynch syndrome, I had no idea about the various issues surrounding hereditary cancer, especially “B-R-C-A.” As I began learning more about various hereditary cancers and talking with other patients, doctors, and genetic counselors, I have discovered there are serious implications behind utilizing particular genetic companies for gene tests, specifically those testing for BRCA mutations. It is important for patients, doctors, and certified genetic counselors to choose genetic testing companies which free genetic information in order to further advancements in hereditary cancer research. Please go here for more information: http://www.free-the-data.org/.

Pathway Genomics is an ethically based genetic testing lab and proudly participates in the #FreeTheData movement. Pathway Founder and CEO Jim Plante had a strong, personal motivation for starting Pathway. He and several members of his family suffer from polycystic kidney disease and his father also died of cancer. After going through a complex and expensive process to find out if he also affected, he decided to start Pathway to provide easy, accessible, and affordable testing for genetic health risks. With that said, I am honored and humbled to announce that Pathway Genomics has decided to support ihavelynchsyndrome.com’s advocacy efforts.

“Ihavelynchsyndrome.com is tireless in its efforts to raise awareness about Lynch syndrome and Georgia’s selfless dedication is an inspiration. We share a passion for educating and empowering people to be proactive about their health, so we are happy to offer our support,” said Jim Plante.

To learn more about Pathway, please go here: https://www.pathway.com.

Please note, we will be holding another #Hcchat in April: When is the Genetic Testing of Children for Hereditary Cancer Warranted?

Details to follow shortly.

Yours,

Georgia

Lynch syndrome, Cancer Memoirs, and #Hcchat

Lynch syndrome

Lynch syndrome

“I have Lynch syndrome…now what?”

I receive countless calls a week from people who have just been diagnosed with Lynch syndrome. Many of them have doctors who fail to refer their patients to a certified genetic counselor and this is an enormous problem. Physicians must refer patients to a certified genetic counselor if they suspect or discover a patient is at risk. All too often, patients leave their doctor’s office with their positive genetic test results feeling confused, distraught, and fearful.

I see this every single day.

If you have recently been diagnosed or have Lynch but have not seen a certified genetic counselor, then please go here to find one near you: www.nsgc.org/ or reach out to me and I will help you. Knowledge is only power for those with a hereditary cancer syndrome when people fully understand their genetic test results and have access to the resources, and proper screening measures that actually will help them maintain their health – this is why is it so important for doctors to refer their patients to a certified genetic counselor.

For some, seeing a certified genetic counselor in person is not possible – please know there are alternatives like http://www.informedDNA.com where you can talk to one by phone.

There are important reasons why you should seek out a certified genetic counselor. They will help you assess your risk – they will explain your genetic tests results in laymen’s term. More importantly for women with Lynch syndrome, not all Lynch syndrome mutations are the same – for certain mutations, it is recommended that a women consider a hysterectomy and oophorectomy, but not for all of them. Screening measures vary for each mutation – it’s not one size fits all. Your genetic counselor should provide you with referrals to doctors who specialize in Lynch syndrome and are well versed in screening protocols. You cannot be your own best advocate for Lynch syndrome without getting all the facts from a certified genetic counselor.

Ask them about places such as Mayo Clinic in Rochester, Minnesota or MD Anderson where doctors know Lynch and you can have all your screening done within a matter of a days. Places likes these have financial assistance programs for those in need – please check out their websites for more information.

For those of you who have just been diagnosed and do not have cancer – the good news is that many of you are way ahead of the game if you have seen a certified genetic counselor and truly understand your risk. Yes, you are at a higher risk of developing colon cancer than the general population but the upside of knowing you have Lynch syndrome with genetic testing confirmation is being able to have a frequent colonoscopies – colon cancer doesn’t usually develop overnight, it begins with a colon polyp and with time, that becomes cancerous. If your doctor truly knows about Lynch syndrome, they should know about the flat polyps, blue dyes, and the special cameras used to detect colon polyps in those with Lynch – if these polyps are found during your colonoscopy, your doctor will snip them out. In my opinion, if you have Lynch syndrome and are vigilant with your colonoscopies, and health, your chances of developing colon cancer are far less than that of the general population.

If you consider the prophylactic surgeries recommended for your particular mutation, and are vigilant with your screenings and tests, chances are you will be okay. If cancer does develop, it will be caught early and hopefully your treatment will be minimized.

Having a colonoscopy is not enough – Lynch syndrome can influence various cancers. Your genetic counselor should tell you what tests and scopes you should be having on a frequent basis. If you tested positive for Lynch  years ago, it’s not too late to see certified genetic counselor to ensure you’re executing your knowledge properly.

Aside from this, you must take personal responsibility for your health. Having a genetic mutation for a hereditary cancer syndrome does not give you a license to not take care of yourself – if anything, you have to be more vigilant. Set an example for your family. Lose the excess weight, eat well, minimize your consumption of animal product and processed foods, exercise, don’t smoke, don’t use toxic cleaning products in your home, go easy on the alcohol, talk to your doctor about taking aspirin therapy, take probiotics, and consider practicing mediation. You don’t have to be a Buddhist to meditate – the research on meditation shows that it may diminish inflammation and other biological stresses that occur at the molecular level.

February 2016

February 2016

Ellen, Amy, and I held #Hcchat on February 18th with Dr. Stephanie Goff from the NIH. We managed to reached over 5 million people on Twitter whist discussing immunotherapy and Lynch syndrome related cancers.

Please go here to read the transcript: https://storify.com/Hc_chat/hcchat-transcript


On a side note, I had read quite a few cancer memoirs lately and these are three books I’d like to bring to your attention…

When Breath Become Air by Paul Kalanithi: A neurosurgeon in his 30’s is diagnosed with terminal lung cancer. This is a beautifully written memoir about a doctor who is forced to evolve into a patient. http://www.amazon.com/When-Breath-Becomes-Paul-Kalanithi/dp/081298840X/ref=sr_1_1?ie=UTF8&qid=1456432774&sr=8-1&keywords=when+breath+becomes+air

Cancer Was Not A Gift & Didn’t Make Me A Better Person by Nancy Stordahl: Nancy is nothing but candid about her breast cancer experience due to BRCA2. She does a stellar job of expressing her range of raw and difficult emotions as she struggles with the loss of her breasts and then ovaries. She raises interesting, valid points regarding societal views of femininity, fertility, and cancer language. Most importantly, she discusses how removing breasts and ovaries may have a profound, long-term, negative impact; not only on woman’s quality of life, but also on a woman’s mind. http://www.amazon.com/Cancer-Gift-Didnt-Better-Person/dp/1517070228

A Kick-Ass Fairy by Linda Zercoe: An incredible story about a woman who deals with multiple cancers due to Li Fraumeni syndrome, a rare hereditary cancer syndrome. So many parts of Zercoe’s book resonated with me and my experience as a Lynch syndrome previvor. http://www.amazon.com/Kick-Ass-Fairy-Memoir-Linda-Zercoe/dp/0989581543/ref=sr_1_1?s=books&ie=UTF8&qid=1456432917&sr=1-1&keywords=a+kick-ass+fairy


March is Colon Cancer Awareness Month —  and about 5% of all colorectal cases are due to Lynch syndrome.

Please consider making a donation to ihavelynchsyndrome.com to support its advocacy efforts. Please click on the “Donate” button on the upper left.

Yours,

Georgia M. Hurst

Founder and Executive Director of the nonprofit: ihavelynchsyndrome.com


Resources:

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

http://jco.ascopubs.org/content/early/2015/08/11/JCO.2014.58.9952.abstract

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomized controlled trial

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243929/

World Health Organization Says Processed Meat Causes Cancer

http://www.cancer.org/cancer/news/news/world-health-organization-says-processed-meat-causes-cancer

Obesity-Cancer Connection

https://hms.harvard.edu/news/obesity-cancer-connection

Everyday Exposure to Toxic Pollutants

http://www.scientificamerican.com/article/everyday-exposure-to-toxic-pollutan/

Probiotics and Immunity

http://link.springer.com/article/10.1007/s00535-008-2296-0

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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.com/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

#GivingTuesday #Lynchsyndrome

#‎GivingTuesday‬ ‪#‎LynchSyndrome‬

“Three days after my 47th birthday, I found what felt like a heel in my lower right abdomen. After a panel of tests, I received the news that my carcinoembryonic antigen (CEA) level was 38 – ten times the normal value; the most likely diagnosis was colon cancer. A colonoscopy confirmed the results. I had a 6cM tumor growing in my ascending colon and one enlarged lymph node. Hearing the words, “You have Stage III cancer.” is a moment captured forever. Genetic testing showed that I had a mutation in MSH2, confirming that I had Lynch syndrome.
Shortly after my diagnosis, I found Georgia Hurst (AKA @shewithlynch) on Twitter, Facebook and online (http://www.ihavelynchsyndrome.com/). Through her non-profit organization, Georgia advocates for genetic testing of Lynch syndrome and other hereditary cancers. She co-hosts twitter chats (‪#‎Hcchat‬) with Amy Byer Shainman (The BRCA Responder) and Ellen Matloff, MS, CGC the President and CEO of My Gene Counsel that address specific topics in hereditary cancers.
These highly interactive chats featuring clinicians and researchers reach millions of people. #GivingTuesday is a time to reflect on who has changed the world. In the Lynch Community, that person is Georgia. She brings you the latest discoveries, newest clinical trials and state of the art knowledge so that all of us are better informed and know how to take charge of our care and treatment. Please consider making a donation so that fewer of us need Georgia in 10 years.”
– Amy Lossie

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

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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

And finally, if you’re in Chicago in December and have a hereditary colon cancer syndrome, you may want to mark your calendar for this event:

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Hope you’re all well and enjoying the fall.

Yours,

Georgia

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


 

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

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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

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