10 Reasons Why Genetic Testing is Important

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By Sarah Witherington, Genetic Counselor

So in my previous blog posts we have discussed what genetic counselors are, what genetic counselors do, why genetic testing takes so long, and about a few other genetic diseases, but we haven’t really talked about why genetic testing is important.  Or I guess more accurately, because genetic counselors are always concerned with being extremely accurate, my opinions on why genetic testing is important.

1.Genetic testing can help determine your course of treatment. Genetics is the “final frontier” in the medicine world, to steal from Star Trek and use my best William Shatner impersonation.  So what do I mean by final frontier? Remember genetic testing for many genetic diseases hasn’t been around very long and genetic counselors have only been around since the 1970’s. This is probably one of the newest fields in medicine and one of the most promising. We are creating new treatments based off of what gene is mutated and even treatments that are specific to the exact mutation within a gene particularly in cancer treatment. That means genetically tailored chemotherapies that are specific to your tumor. And in the pediatric world, we have treatments for children with cystic fibrosis, a debilitating and often deadly lung disease that only works for children with specific mutations in the CFTR gene. This is the world of genetically personalized medicine and it’s already here in your clinics and hospitals.

  1. Genetic testing can help you determine your surveillance plan or your prophylactic surgery path.  Example: you have a family history of Lynch Syndrome, which means you should begin colonoscopies starting your 20’s or 5 years prior to the earliest diagnosis of colon cancer. If you had genetic testing and were negative that would potentially mean your risk for colon cancer would go down to the risk of a normal Joe Schmoe off the street. And if you were positive, we would know your risks, we could determine the best surveillance methods, and help give you the best information regarding any prophylactic measures that are open to you.  That’s a lot of information from a test.
  2. Genetic testing can also help determine screening measures for your family.  We have discussed this before, genetics is a family affair, you are 50% your mom and 50% your dad after all. These tests results can be important for your aunts, uncles, cousins, 2nd cousins, your children and just about everyone else in your family.
  3. Genetic testing as a part of newborn screening. Any of you that have had children recently may not know this but all states run a test as soon as a child is born called the newborn screening.  The test uses a hearing exam, a blood oxygen level, and few drops of blood to screen for around 30 genetic diseases that if not caught early and left untreated can cause irreparable damage to child and even death. These genetic diseases are screened for in this test were chosen because we have interventions for these particular conditions that can save the child. Without this important program in place many children would go undiagnosed and become extremely sick.
  4. Genetic testing in the prenatal period.  One of the more controversial topics in genetics is the use of prenatal genetic testing. I am not going to get into the ethics and the controversy surrounding this but I did want to share an example where genetic testing can benefit an unborn child. When there are mutations in the RB1 gene children can be born with a specific type of tumor called a retinoblastoma. Retinoblastomas can destroy a child’s vision very shortly after birth if the tumor isn’t treated right away. If an unborn child is known to be at risk and tests positive for the gene mutation we can begin treatment very shortly after birth since every day counts with these tumors to preserve the child’s eye sight.
  5. Genetic testing can qualify you for clinical trials. There are several clinical trials out there for experimental treatments that patients can only qualify for if they have a positive genetic test.
  6. Genetic testing can qualify you for screening and prophylactic surgeries. Without genetic testing your insurance may not pay for the cost of the screening or the surgery.
  7. Genetic testing can give you peace of mind.  I am not saying this is true for everyone, but having that negative result in your hand or even a positive can give people peace of mind that at least they know one way or another.
  8. Genetic testing can help scientists create cures and medicines.  Obviously this should not be one of the main reasons you do genetic testing but it is certainly a bonus to having testing. We still don’t know everything about genetics and honestly I am not sure we ever will. The more people who have testing, the more that data gets shared, and the more researchers can have access to that information then the closer we can get to find cures or medicines for everyone. Sharing genetic data is an important topic in the genetics world right now and we all need to work together to further science.
  9. Genetic testing may save your life. I know, I know, save the most dramatic one for last. But I really do believe this is true. Genetic testing and results are scary. The idea that something is beyond your control is terrifying! I’m a melanoma survivor myself so I can understand the feeling that you have somehow lost control of your life or your body. But there is truth to the statement that genetic testing can save your life as well as the lives of others within your family. It can give you treatment options you may not have gotten before, it can allow you to have surgeries and screenings, and it can help children receive lifesaving treatments. Remember you are not alone, we are all in this world together, and there are support groups for every genetic disease out there.

If you should have more questions about genetic testing and genetic counseling, please check out the National Society of Genetic Counselors website at www.NSGC.org

Thanks all for taking the time to read this blog! If you have suggestions please send them our way!

As always, you can email Georgia at ihavelynchsyndrome@gmail.com and me at switherington@ambrygen.com.

You may as follow me on Twitter: https://twitter.com/twitherington and G at:  https://twitter.com/ShewithLynch!


 

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Sarah Witherington grew up in Dallas, Texas and received her bachelor’s degree in Biochemical sciences from Louisiana State University in Shreveport, Louisiana. While studying at LSU, she worked in several research labs studying the genetics of subtropical ferns and Alzheimer’s disease. After graduation she worked in a molecular pathology and cytogenetics lab before attending Northwestern University where she received her Master’s degree in Genetic Counseling. Sarah is a board certified genetic counselor for Ambry Genetics with research interests in pediatric cancers, pheochromocytomas, paragangliomas, and whole exome sequencing.  In what little spare time she has she reads fantasy fiction incessantly, shops online, and is currently trying to ignore how cold it’s getting in Chicago. 

 


Medical Disclaimer: Information and resources on ihavelynchsyndrome.com should not be used as a substitute for professional medical care. You are urged to work with your medical care provider for answers to your personal health questions. 

Helping Those With Cancer

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Well, this is one of the books I’ve been reading recently to “get out of head” and focus on other things instead of Lynch syndrome and cancer – gotta love the title. My apologies in advance if you find the title offensive. Alkon believes that we, as a society, are rude because “we live in societies too big for our brains” and therefore is on a mission to teach people in today’s insane world to possess some manners and to be mindful in what we do and say. There are funny and deviant bits in the book. It’s a good, entertaining read – I recommend it.

Ironically, since I was reading to get out of me head, I was surprised to find Chapter 10 entitled: “Friends With Serious Illnesses; What to do when a friend is really, really sick and could even maybe die.” I just cannot get away from this stuff so I’ve decided to just embrace it and go with it. Personally, I find that saying less when someone who is dealing with cancer is the best way to go and make a concerted effort to refrain from making stupid, trite comments. I just say things like “I love you” and “I’m here for you” – I try and keep it real – and then I’ll take over some food and flowers. Wash some dishes, walk their dog, or just sit and keep them company. But Alkon offers some refreshing, stellar advice to those who have loved ones dealing with cancer:

1. Listen – don’t talk about cancer unless your friend or relative wants to discuss it. Chances are they want to discuss the boring details of your life, not their cancer.

2. Don’t disappear. People with cancer do not have cooties — you can’t catch it. Just be there for them. Disappearing from someone’s life in their greatest time of need is one of the worst things you can do.

3. Don’t say: “Please let me know if there’s anything I can do for you!” unless you are filthy rich and absolutely mean it.

4. Take some initiative; ask your friend or family member if you can pick up anything for them while you’re out and about shopping or running your errands. Take them to their doctor’s appt. Clean their house, do some laundry, take their children out, bring recognizable home-cooked meals, and give them bed appropriate entertainment like magazines, a book of puzzles, or if you have cash to blow, buy them an iPad with a movie subscription.

5. Think twice about the cards you send someone who is sick. You should not be sending “get well” cards to someone who is terminally ill. Stay away from the religious cards as not everyone shares your religious views. This is not the time for proselytizing; a “thinking of you” card is more appropriate.

6. Cancer can overtake one’s identity. Anything anyone can do to bring back the “mundane” to a cancer patient’s life is greatly appreciated. Most cancer patients don’t want to talk about the philosophical implications of life and death or the progression of their cancer; they want to talk about how you ran into your greatest nemesis at the grocery store whilst you were dressed to the nines, pimping out your size 4 jeans. Think about conversation that brings lightness; they have enough heaviness to deal with.

7. Consider a “celebration” of your friend or family member before they die. Tell them how they have touched you and influenced you in your life. Write them a letter; throw them a little party with their closest friends and family, if they’re up for it. They cannot enjoy your loving words at their funeral — they’ll be dead — so do it whilst they’re still alive and can appreciate the words.

8. Many people who are battling cancer are divorced and living alone and are understandably terrified of dying alone. Just because someone is divorced, widowed, or single doesn’t mean that they have to die alone. One of the best things you can do for these people is to reach out to their other friends, family, and neighbors and create a Google calendar to be sure that someone checks in or is always with them until they leave this world.

9. These last two points are mine: we don’t talk about dying and death in our society enough. They are taboo subjects, what’s up with that and how do we change this? Death is what gives life meaning and purpose and yet discussion of it is frowned upon. I don’t understand it.

10. Make a will and get your affairs in order before you get sick. I have done all of this – way before I was even diagnosed with Lynch syndrome. Leaving this all up to your family can cause tremendous emotional despair, drama, unnecessary fist fights, and grief. Your loved ones will have enough to deal with in regards to your death. Make a will, be specific with what goes to whom, plan you’re own funeral if you’re able to, and decide what you want done with your remains. If you’re able, give possessions or money you want certain people to have before you die.

Hope you’re all doing well — keeping positive, nourishing yourselves, and living life to its fullest.

xogox

 

 

Mutation of the Month: Hereditary Diffuse Gastric Cancer

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By Kelly Fulk, Certified Genetic Counselor

As my first foray into blogging, I’m very excited to write the second “Mutation of the Month” about Hereditary Diffuse Gastric Cancer post for Georgia. I want to focus on hereditary cancer syndrome because it flies a little under the radar. Hereditary Diffuse Gastric Cancer (HDGC) is a syndrome associated with mutations in the CDH1 gene, and people with the syndrome are primarily at risk to develop specific types of stomach cancer and breast cancer. Before I dive into the details, a quick detour: if you need a refresher on the differences between “genes” and “mutations,” please see my colleague Sarah Witherington’s July 13, 2014 “Mutation of the Month” post. http://www.ihavelynchsyndrome.com/mutation-month-fap/#.U90-BvldWSo

Now, without further ado, let’s get back on track. Like Lynch syndrome and many other hereditary cancer syndromes, HDGC is inherited in an autosomal dominant manner. (And if you don’t remember, this means someone who carries a CDH1 mutation has a 50/50 random chance to pass it on to sons or daughters each time they have a child). This fact can make parents who carry these mutations feel guilty if they find out that one (or more) of their children inherited the mutation and the associated cancer risks. Of course, this makes no sense – from a scientific standpoint. There is nothing one can do naturally to control which genes they pass to their kids, but this is still a tough issue for many people with hereditary cancer syndromes. Genetic counselors and support groups are two of the many resources available to help individuals and families deal with challenging concerns that can naturally come along with a hereditary cancer syndrome diagnosis. Sometimes it just helps to know that there are outlets for the powerful feelings and emotions that can arise.

HDGC is associated with increased lifetime risks for diffuse gastric cancer and lobular breast cancer. Diffuse gastric cancer is a particularly aggressive type of stomach cancer that is difficult to detect with screening it causes the stomach lining to thicken, making it tricky to see during an endoscopy (a procedure like a colonoscopy that looks at the esophagus, stomach, and small bowel). Imagine trying to look with a tiny camera at the inside of the stomach and trying to determine if it is thicker than it should be, not very easy. People with CDH1 mutations have about an 80% lifetime chance to develop diffuse gastric cancer by age 80, but the average age of diagnosis is in the mid-30’s. Some people have been diagnosed as young as 14, so HDGC is a hereditary cancer syndrome where genetic testing may be considered for children. As Sarah mentioned in her earlier post on familial adenomatous polyposis, genetic testing for children is particularly complicated and sensitive, and should be addressed with a genetic counselor or physician.

Since diffuse gastric cancer is aggressive and hard to detect, people who carry CDH1 mutations are recommended to have a prophylactic gastrectomy which is a fancy way to say a preventative removal of the stomach before cancer develops around age 20. I don’t know about you, but I love to pig out from time to time! Removing someone’s stomach greatly impacts his or her quality of life.  This impact can include strict limitations on meal size, abdominal pain, diarrhea, poor food absorption leading to malnutrition, and other unpleasant effects, but it comes along with a nearly complete reduction in stomach cancer risk.

As I mentioned earlier, CDH1 mutations are also associated with an increased lifetime risk for lobular breast cancer. This is a type of breast cancer that actually begins in the lobules of the breasts, rather than the milk ducts which is the more common starting site. This detail about a cancer diagnosis is important for genetic counselors and physicians to know, because it helps them determine which hereditary cancer syndrome (or syndromes) would be most likely, and what genetic test would be most appropriate to discuss with a family. As an aside, this is why genetic counselors often ask so many pesky questions about your personal and family history – I promise we’re not just being nosy!

With HDGC, there is a 39-52% lifetime risk for women to develop lobular breast cancer, and the average age at diagnosis is 53. Women with CDH1 mutations are offered the option of a prophylactic double mastectomy (removal of both breasts before cancer develops) or to begin a high-risk breast screening program, usually consisting of regular mammograms and breast MRIs beginning around age 35. But one of the issues with screening for lobular breast cancer is that it is very difficult to see using a traditional mammogram and more clinicians choose to screen patients with CDH1 mutations with breast MRIs for that reason.

This brings me to an incredibly difficult dilemma that many people with Lynch syndrome know all too well: choosing a lifelong high-risk screening program or preventive surgery. Removing body parts at high risk to develop cancer significantly reduces the lifetime cancer risk – but, as I mentioned earlier, this can come at a major cost to quality of life. Screening is less invasive, but unfortunately it’s not currently sensitive enough to catch all cancers in their earliest stages. This can leave some people who choose this option to feel like “ticking time bombs.” Choosing screening or preventive surgery is a very personal decision that people make based on their own mixes of personal experience, perception of risk, and other factors. Here’s the good news, though: they are not alone in their decision-making process. Genetic counselors and other health professionals can offer education, information, and guidance. And all these resources know that, in the end, the final decisions are best left to those whose lives will be directly impacted.

I hope I have been able to shed some light on one of the lesser known hereditary cancer syndromes. Lynch syndrome and the BRCA genes tend to command attention as they are a bit more common (as these rarer cancer syndromes go) and affect more families. Plus, who doesn’t want to “Save the Ta-Tas”?!  This attention is well deserved, and I am glad to see the growing numbers of fundraisers and events dedicated to raising awareness about these syndromes. I know I’m a cancer genetic counselor, but it is still my hope that awareness can one day be raised for genetic testing and hereditary cancer syndromes as a whole. While the specific types of cancer associated with each syndrome differ, the issues that individuals face tend to be remarkably similar. For example, I believe that families affected with HDGC could benefit by being included in related support groups and events to let everyone who is affected know that they are not alone.

I know Georgia shares this sentiment with me, since she has cultivated such an inclusive blog to help support hereditary cancer syndromes and those navigating genetic testing. Let’s all share in the struggles and support of families impacted by hereditary cancer syndromes, so that awareness about medical guidelines and genetic testing can be raised for everyone.

To learn more about Hereditary Diffuse Gastric Cancer or to find support, check out:

http://www.cancer.net/cancer-types/hereditary-diffuse-gastric-cancer

http://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer

http://www.nostomachforcancer.org/gastric-cancer/hereditary-diffuse-gastric-cancer

References:

Kaurah, P., & Huntsman, D. (2011, June 21). Hereditary Diffuse Gastric Cancer. Retrieved July 21, 2014, from http://www.ncbi.nlm.nih.gov/books/NBK1139/.


If you should have more questions about genetic testing and genetic counseling, please check out the National Society of Genetic Counselors website at www.NSGC.org

Thanks all for taking the time to read this blog! If you have suggestions please send them our way!

As always, you can email Georgia at ihavelynchsyndrome@gmail.com and me at kfulk@ambrygen.com.

Follow me on Twitter @KFulkRVA_GC or https://twitter.com/KFulkRVA_GC


KFulk headshotKelly Fulk, MS, CGC, was born and raised in Knoxville, TN and received her Bachelor’s degree in Psychology from Washington and Lee University    in Lexington, VA. While studying at W&L, she played volleyball, worked on a local crisis hotline, and helped plan philanthropic events for Kappa Alpha Theta sorority. After graduating, she worked as a genetic counseling assistant for the Cancer Risk Program at UCSF Medical Center in San Francisco for two years before attending UC Irvine where she received her Master’s degree in genetic counseling. Kelly is currently an Oncology Genetic Specialist for Ambry Genetics. If she ever has free time in the future, Kelly would love to explore her wonderful new hometown of Richmond, VA.

Medical Disclaimer: Information and resources on ihavelynchsyndrome.com should not be used as a substitute for professional medical care. You are urged to work with your medical care provider for answers to your personal health questions. 


 

Preventing Colon Cancer

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I came across a stellar piece from the American Gastroenterological Association about diet and colon cancer in my reading, which I wanted to share with you in regards to preventing colon cancer. The paper talks about the history of food and how prior to the Industrial Revolution, most of what humans consumed was “rich in natural compounds obtained from plants and fruits.” Different areas around the world have its favorite “phytochemicals” or nutrients found in plants, which may protect against colon cancer. For example, the Mediterranean diet consists of tremendous amounts of fruits and vegetables, olive oil, fish, and legumes; in Asia, spices such curcumin and the polyphenols (otherwise known as micronutrients) in fruits and teas have been pivotal in dietary roles and cancer prevention for centuries.

The 20th century brought the Western diet:  a diet filled with refined grain, animal proteins, low amounts of fruit and vegetables, saturated fats, along with the use of antibiotics and growth hormones in factory farms. All of these things are believed to have significantly contributed to the increase in colon cancer — “one of the leading causes of cancer incidence and death worldwide.” What we fail to realize is that our gut microflora use the phytochemicals from plants in order to “establish the most favorable host-bacterial relationship. The adoption of the Western diet has rapidly led to the replacement of saprophytes (a plant, fungus, or microorganism that lives on dead or decaying organic matter) and pathogens (a biological agent that causes disease or illness to its host), which we are now understanding as being critically involved in the development of obesity, metabolic syndrome and ultimately cancer.” In other words, eating the typical Western diet has a negative effect on our gut flora and on our bodies and contributes to a number of health issues — colon cancer being one of them.

There is no “magic pill” available for preventing colon cancer, although aspirin has been shown to be highly effective in preventing polyp formation in the colon for those with Lynch syndrome. That is an another blog post which I will get to shortly. A variety of fruits and vegetables, along with spices, teas – all of which consist of phytochemicals; their consumption over a long period of time seem to be essential in the prevention of colon cancer. “It is time to give up the idea of finding a single compound with anticancer effect; we should focus on more natural ways of preventing colorectal cancer that should be very well received by consumers. Also, food industries must contribute to this effort by designing food rich of phytochemicals and non-digestible polysaccharides tailored to modulate gut microbiota.” Rather than looking for a cure for colon cancer we need to focus on its prevention — prevention in the form of healthy, nutritious plant-based foods. Stay away from processed foods, meats, snacks like potato chips, and try to mostly eat foods, which nourish you. Try and eat organic fruits and vegetables (especially those which have thin skins like grapes, tomatoes, apples, pears, berries, etc.), consume probiotics and manage your stress. Remember, your immune system begins in your gut. Oh yes, and don’t forget to exercise and maintain a healthy weight. And if you have Lynch syndrome – annual colonoscopy is essential, along with all of the other Lynch-related cancer screenings and tests.

Reference: http://www.gastro.org/journals-publications/aga-perspectives/decemberjanuary2014/diet-and-colon-cancer-in-western-and-eastern-countries

In the meantime, I have been working out health coach/trainer and she has actually been a huge positive force in my life. I’m walking the talk and practicing what I preach. I thought I had been working out over the past 5 years with mostly running and lifting weights and honestly I realized that I haven’t truly worked out until now. I’m pretty fit for a 43 woman – I can run 6 miles in a little over an hour and can do “true” push-ups with no probs but I must admit, Caroleen is kicking my ass. We have been working out hard, sweating bullets, and I’ve lost 3 pounds in the past week. I am lifting kettle bells, doing interval training on the treadmill, and all kinds of other interesting exercises to “shock” my body. I am on a predominantly gluten-free (wheat-free) – which really means I’ve pretty much have stopped eating bread and eat “Flackers” (flax-seed crackers; http://www.drinthekitchen.com/products.html) instead. I am drinking loads of water, protein shakes and consuming obscene amounts of veggies, fruits, and probiotics.  My new fave go-to snack are the Cave Chick Cookies (http://cavechick.com) which are made out of spelt and ground flax, FYI; the “Cavedoodles” totally rock. You can order them online in you cannot find them in your local Whole Foods. I highly recommend them.

Hope you’re all well and nourishing yourselves in multiple ways.

Yours,

g

10 Things Lynch Syndrome Has Taught Me

Climber dangling from a rope.

1. All deleterious gene mutations are difficult to reconcile: BRCA, Lynch syndrome, Cystic fibrosis, Li-Fraumeni’s, Cowden’s, FAP, etc. While the syndromes differ, there are many parallels between them emotionally and physically. Having any of these horrible gene mutations is a huge emotional, physical, and financial burden.

2. Some of the greatest souls I have met in the world are other cancer advocates. They are the one’s who give a voice to these unique communities and put their hearts and souls into their work for very little in return. They know what it’s like to lose someone to cancer, to have / or had cancer and have boundless empathy for others. They simply want to help lessen the misery in the world.

3. Not everybody with a genetic mutation is fortunate enough to have the emotional support of his or her family. Sometimes family members prefer to not to know whether or not they hold the mutation and bury their heads in the sand, even though they may be carriers themselves; or, some people many have no support because they have already lost many members to cancers. Those that do have supporting, caring, loving family and friends are more fortunate than they realize.  Many people are living without much needed family support and it is tremendously sad.

4. Your genes do not have to determine your destiny; take care of yourself, get healthy, eat well, exercise, besiege yourself with positivity and people who are willing to lift you up — stop making excuses.

5. Prophylactic surgery in order to prevent malignancy to your organs may hold tremendous, life-altering consequences for you. Try to become your greatest advocate and educate yourself, talk to others, and ask your doctors many, many questions. Many doctors tend to hold a “one size fits all” approach to medicine and this can be a big problem. Every person is unique and so should be his or her treatment.

6. There are many patients advocates out there willing to help you. They can help find the resources you need to help you get genetically tested, find you doctors, psychologists, or even just provide great reading material for you. We are fonts of knowledge and are here to help you as much as possible. Reach out to us. Hint: if you’re on Twitter, “search” the syndrome of interest and you will most likely find the top advocates for your topic.

7. Advocacy must be tailored to fit various groups. Again, the “one size fits all” approach does not work. For example, some women with a family history of BRCA within the Jewish community are reluctant to get tested before marriage. Cultural issues play a huge role in how/when/why a group goes about being genetically tested.

8. You will come to terms with the diagnosis and learn a new normal. You will no longer take your days, family, or friends for granted.

9. The most challenging times of the year will be: holidays, birthdays, when milestones are reached, or when it’s close to annual testing and screening.

10. You must look inward for the strength you need; no one will be able to provide that for you but yourself.

Yours,

g

 

Having Lynch Syndrome and Taking Charge of Your Being

10471328_740411269333412_5023907394847570526_oI’ve decided I need a kick in the arse. Running is starting to bore me so I thought I’d kick it up a notch and hire the hottest, fittest personal trainer and health coach I know — Caroleen. She is pictured above. She is pillar of health, strength, and positivity; all of which we need to besiege ourselves with a lot more of. She is highly knowledgeable about exercise and food as she is a certified personal trainer and nutritionist. She has introduced to me to a form of exercise called Foundation Training, please click here if you’re interested in learning more about it: http://goo.gl/aSZ8S3, along with kettle bells and interval training. If you live in Chicago and are interested in contacting Caroleen in order to have her help you meet your fitness goals, you may contact her through: www.summitperformancetraining.com.

Foundation Training looks much easier than it really is. If you’re assuming a proper position for any one of the particular exercises you will definitely feel it in various parts of your body. And it is hard. You’ll be sweating bullets in no time. It’s great for your core, butt, and posture and you will definitely benefit from it if you spend and obscene amount of time sitting most of the day. She also consults me on living a healthy, positive lifestyle — with great emphasis on highly nutritious foods and surrounding myself with beauty and positivity. She has put me on a high protein, gluten-free diet; I drink loads green veggie juice, lemon and berry infused water, and use coconut oil and cashew butter to stave off food cravings. I will be sharing exercise and health tidbits from her to help you make small improvements to your life. For one, start drinking more water – a lot more water, especially before your meals. Many people who think they’re hungry are really just thirsty so drink some water first to see if that’s the case. When you do finally eat, you probably won’t consume as much food much because your water intake can decrease your appetite.

I have been trying hard to remove negative external forces from my life; I used to be a news junkie but I can no longer absorb or process the negativity any longer. I have stopped reading the newspaper. I don’t watch television unless it’s a show I use to get myself out of my head. I get most of my news off of Twitter and occasionally the images I come across in regards to world events are too difficult for me to bear. I have stopped reading Facebook platforms and many other “Lynch” related sites because I find that most of what is on there consists of the worst of what Lynch cancers have to offer. Whilst I have learned a tremendous amount about various Lynch related cancer issues, therapies, procedures, and whatnot, I just do no find it helpful in my life in regards to trying to maintain my positive attitude. All of the misery and uncertainty on these sites can only fuel one’s anxiety. My heart bleeds for those who are sick with Lynch related cancers — and I wish I could ameliorate their misery but I can’t. But what I can do is provide hope for the previvors and encourage them to make positive changes to their lives to stay healthy and hopefully cancer-free.

I want to empower others, give them hope, and help them realize that their genes do not have to determine their destiny. Rather than spending hours on Facebook and reading some of the horrific stories and reading some people’s trite, simplified, black, and white answers to highly complex issues, I wish people would spend their times with their families, cooking healthy meals together, going on walks, exercising, and focusing on the positive things in their lives.

There is one Lynch site which I love to read religiously: http://www.thelyncheffect.com/blog  by Autumn Tinsley. She was diagnosed with bowel cancer due to Lynch syndrome at a young age and from that emerged her amazing website. Her site is a font of inspiration, insight, and optimism and she mirrors much of what I discuss and do. I highly recommend you check it out. Here’s a brief insight into thelyncheffect.com:

 

The Lynch Effect is about making conscious choices everyday,
To step into infinity,
To move and meditate,
And to sculpt your own life.
It is making the decision to have an open heart, 

to live with purpose, 
and connect with a deep knowing that all is as it should be.

leffect

Living well is a choice and if you’re really interested in doing so you will make time for it instead of excuses.

One more thing, here’s a great video I came across regarding our gut bacteria and the implications they hold for our immunity. I highly recommend that you watch it: http://goo.gl/53Zrj0

I hope you all have a stellar week.

No mud, no lotus.

xogox

 

 

Battle for the Breasts!

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Ambry Genetics announces Title Sponsorship for Battle for the Breasts, to raise awareness in the fight against breast cancer. 

Ambry Genetics and the Mauli Ola Foundation announced the ‘Battle for the Breasts’, an online surf video contest, powered by Surfline. The goal of this three-month event is to increase public awareness of breast cancer and the importance of early detection and screening. Sixteen randomly selected cancer center/clinic foundations will be represented by the world’s top women’s surfers for a chance to win up to $125K worth of hereditary breast cancer testing vouchers donated by Ambry Genetics.

In the ‘Battle for the Breasts’, the Association of Surfing Professionals top women’s surfers’ video submissions will compete against each other for the fight against breast cancer. Each surfer will be paired with a cancer center/clinic foundation and will surf on its behalf. The top 4 surfers will win genetic testing vouchers for the foundation they are chosen to represent. The remaining 12 foundations/clinics will also receive a voucher for a comprehensive BRCA1 & 2 analysis for participating in the contest. Ambry Genetics plans to donate all vouchers for testing to these foundations on behalf of the surfer’s overall performance.

This is a remarkable opportunity for free genetic testing for breast cancer with no obligation required.

All you must do is fill out the registration form at: 

http://mauliola.org/battle-for-the-breasts 

Please be sure to share and pass this on! You may help save someone’s life!

The Documentary: Pink and Blue

Alan Blassberg, Producer of the Pink and Blue documentary with me in L.A. last week.

Alan Blassberg with me in L.A. last week.

Breast cancer is not just a “pink” thing; it can be a male thing, too. What I find so ironic is that the color pink, not blue, was affiliated with boys up until the 19th century; most children before World War I wore white, usually until the age of six. White clothing was much easier to clean and it wasn’t later in the century until dyes became popular when children began wearing pastels — boys mostly wore pink, girls wore blue.

History tidbit via Smithsonian, no charge: A June 1918 article from the trade publication Earnshaw’s Infants’ Department said, “The generally accepted rule is pink for the boys, and blue for the girls. The reason is that pink, being a more decided and stronger color, is more suitable for the boy, while blue, which is more delicate and dainty, is prettier for the girl.” Other sources said blue was flattering for blonds, pink for brunettes; or blue was for blue-eyed babies, pink for brown-eyed babies … In 1927, Time magazine printed a chart showing sex-appropriate colors for girls and boys according to leading U.S. stores. In Boston, Filene’s told parents to dress boys in pink. So did Best & Co. in New York City, Halle’s in Cleveland and Marshall Field in Chicago. Today’s color dictate wasn’t established until the 1940s, as a result of Americans’ preferences as interpreted by manufacturers and retailers. “It could have gone the other way,” … So the baby boomers were raised in gender-specific clothing. Boys dressed like their fathers, girls like their mothers. Girls had to wear dresses to school, though unadorned styles and tomboy play clothes were acceptable. - Source: http://goo.gl/3ToviR

So why are men capable of developing breast cancer you ask? Well, evolutionarily speaking, humans are deemed mammals, yes? Yes! Mammals have body hair, three middle ear bones, and modified sweat glands otherwise known as mammary glands, or breasts. That’s right, boobs are really modified sweat glands – not so sexy when you look at them that way, eh? All embryos begin as “female” and it isn’t until around the embryo’s sixth week when the male chromosome “kicks” in for it to become male and therefore develop male characteristics. Nipples and breast tissue in men are vestiges of their “female” beginnings. As a result, men can get breast cancer and may develop other medical issues which may cause their breasts to enlarge. 

Which brings me to the documentary – Pink and Blue. It will be coming out shortly and discusses the social disparities between the genders in regards to having the BRCA mutation. I had the pleasure of meeting Alan Blassberg, the producer of the documentary last week when I was in L.A. If you’re a reality TV junkie, chances are you’ve seen some of his work — Wife Swap? We all know the women who are BRCA+ have significant chances of developing breast and ovarian cancer; but men also who are BRCA+ are at risk of developing breast and prostate cancer, melanoma, and others. Comparable to Lynch syndrome, those with the mutation have a 50/50 chance of passing it on to each of their offspring. This year 2,190 men will be diagnosed with breast cancer and 410 will most likely die from it.

Alan and I have so much in common and it was totally serendipitous that we meet– through that we realized how small the world really is and that is was part of the Universe’s plan that we meet. #ILOVETWITTER! He and I hit it off right from the get-go — we sat and spoke for a few hours as is we had been friends forever. I encourage you to watch a clip from the documentary; I think it is a beautiful, progressive piece of art that Alan has created from the misery he has seen and endured; he has lost grandmother, aunt, and sister, Sammy, all from cancer; Alan is also BRCA+. Like me and my brothers, who all hold/held the Lynch mutation, Alan and his two sisters also hold/held the BRCA mutation. We both know what it’s like to lose a sibling and to be mutation carriers; we are both looking for progressive, creative ways to educate and help others and lessen the misery in the world.

Cancer is cancer and no one should ever have to go through it because much of it can be prevented.

To learn more about the Alan and his documentary, please click on the following links:

www.pinkandbluemovie.com

http://www.youtube.com/watch?v=XnK3xuOQ0jk


 

This is a quote from www.cherrypepper.fr, one of my favorite blogs, which I wanted to share with you. Words of wisdom: realize, evolve, and act.

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Have a stellar weekend.

Be well, be mindful.

Yours,

G

 

Why Does Genetic Testing Take So Long?

laboratory assistant girl  in the genetics laboratory

Post by Sarah Witherington, genetic counselor extraordinaire…

One of the common questions I am asked by patients and other medical professionals is: “Why does it take so long for genetic tests results to come back?

Most doctors and patients are used to receiving blood test results within 48 hours. So why on earth would genetic testing take so much longer when it is also done on blood?

Let’s back it up to high school science class again and my last post where I spoke about DNA and mutations.  Let me put the size of the human genome, which remember is the instructional manual for body and its functions, into perspective for you.  In 1990, we first started trying to read and copy the entire human genome, it took us until 2003 before we had the entire human instruction manual mapped. That is 13 years of scientists, the best minds in the world, working around the clock to try and complete this project. And it cost us a total of $2.7 billion dollars. That’s Billion with a “B”, which by today’s inflated standards many not seem like much, but that was back in the 90’s when a tank of gas cost you $1.10 per gallon. No joke.

So now let’s think about the size of the genome in another way.  Remember when I talked about DNA being the instruction manual for the human body? Then there must be “words” in our instruction manual, those “words” are what we call genes.  And the “words” are written in chemical letters, some of you may remember this from biology as A, T, G, and C.  Those are the only four letters that make up the words within our instruction manual.  The human genome project allowed us to count the number of letters that make up our DNA instruction manual; they came up with the total of 3.3 billion letters (that’s another Billion with a “B”) per strand of DNA and you just happen to have 2 strands of DNA, so let’s make that number a round 6.6 billion.  And that’s not 6.6 billion letters per person, that’s 6.6 billion letters per cell.  According to my Google search the average book has about 500,000 letters in it. That means that each cell in your body contains about 13,200 books worth of information.  Think about the enormity of that for a second. One square inch of your skin contains 9.5 million cells and each one of those cells contains the equivalent of 13,200 books. Yikes!

Ok, ok, I’ve harped on it enough, you’ve got the idea.  The human genome is huge! So imagine what all we have to do in the lab to make sure we are doing a test correctly and interpreting our science correctly. So let’s go back to the tube of blood your doctor drew. That tube of blood gets packaged up and shipped to any number of genetic laboratories, which usually takes 24-48 hours, so there goes our 48 hour results window automatically! Once it reaches us we have to get your DNA instruction manual ready to be read. That means we have to carefully destroy the cells holding the DNA without destroying the DNA itself. Don’t worry labs have become very good at this, you and your kids (or big kids at heart!) can practice a simple version of this concept at home using strawberry DNA. http://www.genome.gov/pages/education/modules/strawberryextractioninstructions.pdf

Once we have the DNA outside of your cells what do we do next? Well right now it’s just one long big tangled mess inside of a tube, you can’t see it of course since it was just inside of a cell that is so small we measure it in micrometers. We clean it up and break it down into smaller pieces that are easy for the machines to read. No one can read 13,200 books all at once, so we have to make it into paragraph size chunks instead.

Your DNA is now nice, clean, and in a readable size so that it can be put on the sequencing machines. There are currently two major types of DNA sequencing methods used in genetics right now for patient testing. When we talk about sequencing DNA, all that means is that we are reading every single letter, copying it into the computer, and then checking the DNA for spelling errors, basically. Obviously, there are a lot of complicated chemical reactions that go into this process and each of these sequencing machines costs hundreds of thousands of dollars.  The first type of sequencing is called Sanger sequencing and it is the “gold standard” of genetic testing. It was of course named after the guy who developed it, Dr. Sanger, because the best way to be remembered in science is to name something after yourself of course! (Sorry, Dr. Sanger.)  So now why is it called the gold standard? Well that’s because it’s the way we have been sequencing things since 1977. Yep, there weren’t any major break throughs in genetics on how to more efficiently read DNA in 30 years. So imagine the excitement in 2007 when the second major type of sequencing came out, this is called Next Generation Sequencing. Clever name right? There is obviously a much more scientific name for it but pretty much everyone in the genetics world calls it Next-Gen for short.

Back on topic! Most labs are using Next-Gen sequencers and confirming any spelling errors using Sanger sequencing methods, just to be doubly sure. But the hard part about being doubly sure about something, is that it usually takes double the amount of time at least. So now that we have read your DNA and put it into the computer, we have to look for misspellings.  “But”, you may ask, “you said that everyone’s DNA instruction manual is the same! How can I have a misspelling?” That’s a great question! I also mentioned that everyone has somewhere around 60 new misspellings compared to their parents and that most people are carriers for something like 10 genetic diseases. Not to mention, that if our instruction manual was all EXACTLY the same then all of us would look EXACTLY the same.  Everyone has very slight variations in their DNA that makes them unique and that means it can be really, really difficult to tell if a “misspelling” is actually normal or if it is disease causing.

Labs spend a lot of time making sure that we are reading your DNA correctly but we also spend a lot of time looking at the letters for misspellings and trying to determine if they could really cause disease.  This is a time intensive process and takes scientists from many different backgrounds.  There are a lot of things we still don’t know about genetics, in fact we really only know what about 4,000 of the genes out of the 24,000 genes in your DNA instruction manual do.  And sometimes we won’t know what these “misspellings” or changes of a letter really mean for you even when we see thousands and thousands of patients. Because the reality is no lab knows everything, science doesn’t know everything yet, and we know that you, as a patient, are making decisions off of these genetic testing results.

We may see billions of letters of genetic code from thousands of patients but at the end of the day we treat each sample very carefully and weigh all the scientific evidence we have.  Because we know if we mess up in anyway, it’s your medical management and potentially your life on the line. So if you are one of those patients who gets an “uncertain” or “inconclusive” result, don’t look at that result as a bad thing, look at that result and realize that as a lab we are working our hardest to get you an answer.  We aren’t going to give you a yes or a no in these cases because if we are wrong there can be dire consequences.

After reviewing all the evidence the scientists at the lab write your individual report, some labs even include all the scientific evidence available with the report. We then send the report to your doctor or genetic counselor so they can contact you.

Depending on what test your physician or genetic counselor orders for you, this whole process can take anywhere from a week to 3 months.  Three months may seem like a really long time to wait for a blood test right? But remember how much data we have to sort through? Somewhere around 13,200 books worth of genetic information and then we have to search all of those words for misspellings that may or may not mean anything all trying to find an answer. It’s not an easy feat. So when you hear your doctor or genetic counselor say a test will take up to 3 months, please try to be understanding. The doctor, genetic counselor, and the lab know you are anxious and worried about these results. We are too. We want to find you an answer and we want to get it right. If we can do it faster, we will, but not at the expense of being wrong.  So be kind to doctor or genetic counselor, I promise they are doing all they can.

If you should have more questions about genetic testing and genetic counseling, please check out the National Society of Genetic Counselors website at www.NSGC.org

Thanks all for taking the time to read this blog! If you have suggestions please send them our way!

As always, you can email Georgia at ihavelynchsyndrome@gmail.com and me at switherington@ambrygen.com.

You may as follow me on Twitter: https://twitter.com/twitherington and G at:  https://twitter.com/ShewithLynch!


Sarah Witherington grew up in Dallas, Texas and received her bachelor’s degree in Biochemical sciences from Louisiana State University in Shreveport, Louisiana. While studying at LSU, she worked in several research labs studying the genetics of subtropical ferns and Alzheimer’s disease. After graduation she worked in a molecular pathology and cytogenetics lab before attending Northwestern University where she received her Master’s degree in Genetic Counseling. Sarah is a board certified genetic counselor for Ambry Genetics with research interests in pediatric cancers, pheochromocytomas, paragangliomas, and whole exome sequencing.  In what little spare time she has she reads fantasy fiction incessantly, shops online, and is recovering from cliff diving in Jamaica. 


Medical Disclaimer: Information and resources on ihavelynchsyndrome.com should not be used as a substitute for professional medical care. You are urged to work with your medical care provider for answers to your personal health questions. 

 

Ambry Genetics, Eileen Grubba, Matt, Alan, and The PinkandBlueMovie.com

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Advocacy work is always challenging but there are moments when it is highly rewarding, specifically when I travel and meet amazing beings who inspire me. I just returned from five days in California. Ambry Genetics invited out to present my Lynch syndrome advocacy efforts to their incredible and exceptionally bright and beautiful staff; I was overwhelmed by their kind, flattering words regarding my work. Moreover, I finally got to meet with the amazing man who saw my potential, ambition, and passion to give Lynch syndrome a much-needed voice — he never underestimated me; my gratitude towards him is immeasurable. 

After a couple of days in Laguna Beach I took the train to L.A. to see two of my nearest and dearest. On Friday night, I finally got to meet Eileen Grubba — my “Lynch sister” – and had the most incredible vegan meal with her at Gracias Madre. We have spoken many times and she is one of the few I feel particularly close to within the Lynch community. She and I share many parallels in regards to how we deal with living with Lynch, especially when it comes to a vegan diet and surrounding ourselves with positivity. She is a pillar of beauty, health, strength, kindness, and is absolutely thriving! She is a busy woman and I greatly appreciated her taking time out of her hectic schedule and philanthropic efforts to have dinner with me. The picture above was taken in the dimly lit room when we had dinner; I had to lighten the photo and this is why it looks grainy.

Part of my advocacy works includes talking and listening to newly diagnosed Lynch patients and I had the pleasure of meeting a wonderful soul on Saturday morning who was recently diagnosed with Lynch syndrome and has already survived two different types of Lynch related cancers. She is currently in remission but she is having a tremendously difficult time because she does not feel well and is experiencing lethargy; “I’m trying to figure out how to live again before I die,” she said to me. Haunting words which have been with me ever since. All I can do is listen and encourage her to find positive ways to “get out of her head” once in awhile. Her quality of life has been compromised on so many levels since she had cancer; there are huge implications to removing body parts, especially of things like ovaries and colons.  

I try my best to offer emotional support and mostly just listen when other patients reach out to me – never medical support, that job belongs to doctors and genetic counselors. Please be leery of other patients or advocates who are so flippant about telling you to remove your organs as if your organs are comparable to kitchen appliances. I am a huge proponent of genetic counseling followed by genetic testing, if deemed necessary, but I think people need to know that there are options for them. Lynch syndrome is not solely about genetic testing, annual screening, and prophylactic surgeries. I have said this a zillion times – it’s a constellation a factors which will determine whether or not your mutation is expressed and turns into cancer. Lifestyle and epigenetic factors such as exercise, diet, environment, etc.,  all play a huge role. It is a heavy and difficult diagnosis to reconcile. Please do not feel bad or crazy if you’re having issues with your emotions – it is hard to deal with but I can assure you that things will get better with time if you make a concerted effort to focus on the positive, make healthy lifestyle changes and be vigilant with your screenings. These things will make you feel empowered and more in control of your situation. 

Then, I met Matt Harrison, an actor who staring in “The Producers” on stage in Santa Monica – please go see it if you live there. It’s a total riot and Matt plays the Nazi in the play (http://morgan-wixson.org/?p=2304). He and I met on Twitter and we realized how small and incestuous the world is when I introduced him to my BRCA counterpart, Amy Byer Shainman. 

Anyway, I also had the pleasure of meeting with Alan Blassberg, the producer of the “Pink and Blue” documentary; please check out the site at: http://www.pinkandbluemovie.com for more info. More about that later. I also spent a bit of time with Megan from UCSF’s Kintalk.org  — she and I met last year in San Francisco. It was great to catch up with her and discuss a little project she and I are working on.

I really love my work and will continue to evolve and expand my advocacy efforts. Lynch syndrome, as with many other deleterious gene mutations, consists of elusive complexity, and many different social, cultural, financial, emotional, and physical implications.  The “one size fits all” approach to dealing with genetic mutations, disease, and even advocacy efforts needs to evolve and become more creative and I am collaborating with many others to make this happen. We need to reach those “who don’t know what they need to know” and that requires an excessive amount of creativity. I have the tremendous pleasure of meeting the world’s most incredible, fiery souls who want to make a difference and lessen the misery of this world and I am extremely flattered that they want to include me in their efforts.

Hope you’re all well.

Yours,

G

 

 

 

 

 

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