Wednesday, July 11, 2018

Hereditary vs Somatic Mutations July 2018 Chat

Tonight our topic was Hereditary vs Somatic Mutations in gynecologic cancers. Along with our regular participants we also welcomed a few new community members. We especially appreciate the attendance of Erica Bodner (@EMBOSU), a genetic counselor at MD Anderson Cancer Center for sharing her expertise on hereditary mutations and the role of genetic counselors.

Transcript and analytic links are unavailable at this time but we will update this post as soon as they become available. The resources shared during the chat are listed at the end of this post.

Here is a sample of the responses to the questions we asked during the hour chat.

T1: What is the difference between hereditary mutations and somatic mutations?
  • hereditary mutations (aka germline) = changes or "spelling mistakes" in a gene that we inherit from a parent. The mutation is present in every cell of our body. Somatic mutations are what I think of as tumor-specific: changes that occur in the tumor or cancer
  • “When a mutation occurs within germ cells, it is called a germline mutation. Germline mutations affect every cell in an organism and are passed on to offspring. When a mutation occurs in a somatic cell, it is called a somatic mutation.”
  • There are some tricky cases where we look at a tumor for it's somatic mutations and accidentally find hereditary (germline) changes -- since those are in all of the cells, often including the tumor. It can get complicated!
T2: Which gene mutations are known to be associated with hereditary gynecologic cancers?
    • 1) a single gene is like a very long sentence...a mutation=a letter change somewhere within that sentence that causes the sentence to not make any sense to the body. There can be 100s of spots in any given gene that can have a mutation
    • (2): for gyn cancers it's often easier to think about which cancers are linked to which hereditary conditions. Ex: ~3% of endometrial cancers are due to Lynch syndrome (caused by a mutation in 1 of 5 genes: MLH1 MSH2 MSH6 PMS2 or EPCAM)
    • (3) about 10-20% of "epithelial" ovarian cancers are due to a hereditary cause...most often a mutation in BRCA1 or BRCA2, but sometimes can be due to a mutation in a Lynch syndrome gene or a "moderate penetrance" gene like RAD51D
    • Genetic mutation an alteration in DNA occurs after conception ovarian CA inherited mutation in BRCA1/BRCA2
    • Yes. BRCA associated ovarian cancers are more frequently high grade serous carcinomas whereas Lynch syndrome associated ovarian carcinomas are nonserous (most endometrioid or clear cell)
    • BRCA1 and BRCA2
      T3: What testing is needed to find hereditary mutations?
          T3 follow-up... What are the differences between clinical genetic tests and Direct To Consumer (DTC) tests?
          • T3 (1) clinical genetic tests are ordered by your genetic counselor and/or doctor for medical purposes + have high levels of quality control & regulation. DTC labs (historically) have been tests ordered by any1 from home + often used different technology+ non-med purpose
          • 2) now we're starting to see clinical-DTC Hybrids like @Color that are a little bit of both. The genetic testing area is growing & changing very fast...luckily it's our job as genetic counselors to keep track of what's out there & can help navigate you to best options
          • T3: There have been many articles recently about what DTC do and do not cover. Most would need a clinical lab test to confirm results. Genetic counseling key before to decide and after to be sure understand results
          • Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations #gyncsm
          • Cannot be overemphasized the importance of having ur health care team involved. Confirming DTC results in a clinical laboratory that's well versed in complex variant detection & classification is essential. This is concerning...
          T4: Do we know what somatic mutations are prevalent in gynecologic cancers?
          • I found this journal article "13 most important genes for gynaecological cancers, being BRAF, CDKN2A, CTNNB1, FBXW7, FGFR2, FGFR3, FOXL2, HRAS, KRAS, NRAS, PIK3CA, PPP2R1A and PTEN."
          • Research on somatic mutations is early but is part of the personalized/precision medicine puzzle. BRAF, KRAS, PIK3CA and PTEN have been identified with epithelial ovarian tumors. There are also somatic BRCA mutations. 
           T5: How does knowing you have these mutations impact your healthcare decisions?
            • knowing if you have a hereditary mutation (or not) can impact cancer treatment decision making, cancer screening/prevention options, and can provide info to relatives so they can better understand their cancer risks
            • hereditary mutations can signal risk for other, separate cancers... This can be information to help guide screening and prevention (but the info might also feel like a burden, especially if you are already dealing with one cancer dx).
            • For those already diagnosed, more and more research is coming out to help select the best treatment based on which mutations are present. Genetic and tumor tests can help decide what to try when standard tx doesn't work - or even what to try first.
            • Do you chose prophylactic surgery? Vigilant testing ? #gyncsm. Tough choices
            • Women w/ OC knowing they are BRCA allows for additional treatment options on - PARP for example
            • Knowing that you are at risk for a certain cancers can be powerful information that allows you to take preventative risk reduction measures against developing those cancers
              T6: What role do genetic counselors play in helping patients understand the results of testing?
                • My personal bias is to hope that genetic counselors have good relationships with mental health professionals to refer patients to.
                • Personal risk is discussed. Choices are discussed. Emotional support is discussed. Information is powerful in making best decisions
                • Genetic counseling can be especially important as multi-gene panel might be better suited given your family history (vs testing for one type of mutation).
                • Genetic counselors can help you to navigate and piece together how your cancer history+family history impact your chance to have a hereditary mutation. We can help figure out if the testing you had was hereditary (germline) or somatic.
                • Genetic counselors can help you weigh pro's and con's of genetic testing, and what results could mean for you and your family. Where to get tested? Does insurance cover it? We can help with that too!
                • We can help explain your results, develop a plan for you and your family to help #endcancer. We also want to be a resource - emotional, informational, and for your family. You can find one of us at @GeneticCouns

                  If you are a patient or caregiver you may continue this discussion on the Smart Patients Platform ). 

                  We hope you will join us for the next #gyncsm chat: Wednesday, August 8, 2018 on "What is OK during treatment?" where we'll touch on things like vitamins, supplements, exercise, etc.
                  Have a good month.

                  #gyncsm Co-moderator

                  Germline vs Somatic mutations

                  National Society of Genetic Counselors



                  Salon - What Genetic Testing Didn't Tell Me About My Cancer

                  CURE Magazine - Cancer Redefined Personalized Medicine

                  NATURE - False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

                  New York Times - The Online Gene Test Finds a Dangerous Mutation...

                  @NIH Fact Sheet

                  Designing a High-Throughput Somatic Mutation Profiling Panel Specifically for Gynaecological Cancers

                  Friday, July 6, 2018

                  July 11, 2018 Hereditary vs Somatic Mutations

                  The topic of the #gyncsm community's second ever chat was Genetics and Personalized Medicine. Since that day in October 2013 we have learned much more about the mutations associated with gynecologic cancer. This month we will be discussing Hereditary vs Somatic Mutations.

                  If you want to know...
                  • The differences between hereditary and somatic mutations
                  • The gene mutations associated with hereditary gynecologic cancers
                  • What testing is needed to find hereditary mutations
                  • What somatic mutations are prevalent in gynecologic cancers
                  • How knowing you have these mutations can impact your healthcare decisions
                  • What role genetics counselors play in understanding test results
                  ...then be sure to join us on Wednesday July 11, 2018 at 9pm ET

                  The CDC has a wealth of information on genes and genetics at or check out this Fact Sheet from the NIH

                  We look forward to having you join us on the 11th. 


                  Wednesday, June 13, 2018

                  Let's Define Value of Care June 2018 #gyncsm Chat

                  This month we discussed, for the first time, the topic Value of Care. We were pleased that Sarah Temkin, MD a gynecologic oncologist (VCU Massey Cancer Center) and co-author of the SGO article "The "Value" of value in gynecologic oncology practice in the United States: Society of Gynecologic Oncology evidence-based review and recommendations" joined us for this important discussion. 

                  We had a lively discussion with 46 participants and achieved 2.43 million impressions. You may find the complete transcript here and the analytics here. Resources mentioned during the chat may be found at the end of this post. 

                  Here is a sample of the responses we had to the questions we discussed. 
                  T1a: There been a lot of discussion in recent years about "value of care". Why is it important?

                  • T1a It’s important to remember that more expensive care does not always mean better care. Spending in the US which far exceeds that of other countries is not correlated with commensurate improvements in health outcomes (
                  • T1a #Healthcarevalue also means avoiding waste - estimated that 20% of healthcare spending is unnecessary care (eg. 2 doctors order the same test) Reducing waste could leave $ for better or more care elsewhere
                  • T1a. There’s a slow culture shift in cancer where it’s no longer just about “will drug X make me live longer” but “will drug X make me live better.” And how you the patient define “better” is your very own definition of “value” - how’s that for #PrecisionMedicine!

                  T1b: How do YOU define the "value of care" you give and/or receive as a patient, loved one, healthcare professional, etc?

                  • T1b the most “valuable care” to me personally is when the healthcare provider LISTENS
                  • And valuable care may mean eliminating therapy – #ASCO18 showed us that as many as 70% of patients with breast cancer don’t benefit (but do get toxicity) from chemotherapy
                  • My definition is improvement In Quality of life per cost of intervention
                  • T1b Net Health Benefit with clinical benefit, financial toxicity, long term survival, palliation of symptoms, Quality of life, treatment free interval
                  • "Value of care" has become increasingly significant as the rise of medical costs for treatments continue to rise. As a patient, I want the most effective treatment for the least cost.
                  • T1b. I value care in which the professional listens and does the best they can under the circumstances, even if things don't always work out.

                  T2: In addition to price, what other information would you need in order to make a judgment on the value of the care you receive (procedures/chemo/visits/etc.)? 

                  • T2 We often lose sight of toxicity and time away from family when prescribing care. If a chemotherapy regimen can be given monthly, but a weekly treatment is prescribed that is a lot of time spent traveling and getting care that could have been saved.
                  • T2 Opportunity costs. Effectivity. Side effects and medicines required to control them, months lost due to not using an effective drug. Quality of life. 
                  • A2: Value of care takes into consideration that patients will be treated well, with compassion and #empathy. Cost savings are irrelevant if I am not acknowledged as a human with goals for my life that may change how I want to pursue treatment
                  • Price wouldn’t be number one for me. It would be how can I make this easier on my loved ones.

                  T3: What are Quality-adjusted life years (QALY)? How do we measure outcomes? What elements are large medical organizations (incl. ASCO and SGO) including in their recommendations on value of care?

                  • QALY economic evaluation to assess the value for money of medical interventions. One QALY equates to one year in perfect health 
                  • Essentially years of life added due to cancer treatment but adjusted by functional status. Is it really worth extending life without living?
                  • just today I read an interesting review of QALY as a measure of healthcare outcome and cost...and the controversy over its use. recently published:
                  • @ASCO Value Framework assesses the relative value of cancer treatment regimens that have been studied in #clinicaltrials. This is a combination of clinical benefit, side effects, and improvement in patient symptoms or quality of life in the context of cost

                  T4: How are rising drug, immunotherapy and targeted therapy prices impacting the evaluation of which treatments are of value? How have rising drug costs impacted you?

                  • As a #healthcare provider, I spend more and more time on the phone with insurance companies trying to justify treatments that may be of benefit to an individual patient #NotValuable
                  • I cringe every time I read a study about maintenance immunotherapy or targeted therapy where the patient continues it every few weeks (for life) - none of those studies go into the out of pocket costs and consequences of indefinite treatment!
                  • The more recently approved deufs for Gyn cancers ar exorbitantly expensive as compared to older approves drugs. They may not me more effective.
                  • Sarah Kelly LCSW for CacerCare in NYC often hears from patients" I don't want to bankrupt my family" and "I can't afford to live "
                  • T4: for patients who I work with at a local county hospital, access to PARP inhibitors after ovarian cancer recurrence & the identification of an inherited BRCA mutation, can be challenging primarily due to cost when they are un/underinsured
                  • T4. For gyn #sarcoma patients, I think most get new treatments in clinical trials, but I'd love to hear more from them & the doctors who are treating them.
                  • T4 And oral chemotherapy drugs may have completely different out of pocket costs compared infused chemotherapy. They also don't always align with physician financial incentives. 

                  T5: What is being done to encourage including discussions around cost as part of the treatment plan? Are cost and financial toxicity discussions happening during office visits? Do payment models impact care?

                  • Creating a safe space with patients, and honest conversation is important:
                  • T5. It's not routine to focus on cost, but it isn't uncommon to discuss at some point. That doesn't come up immediately.
                  • in genetic counseling we actually (unfortunately) have a word for all the time we spend counseling patients on cost/insurance coverage/paperwork processes... Genesurance. Definitely cuts into our availability and limits working at the top of our scope
                  • As many of the newer drugs are oral, I often times hear from the pharmacist that the drug is too expensive and the patient can not afford it
                  • T5 Patients experiencing high out-of-pocket costs may reduce their spending on food and clothing, self-reduce their doses (stretch pills), avoid recommended procedures, and skip physician appointments to save money
                  • T5: $ discussions are so tough in onc bc we’re talking about cancer, a life-altering illness. How do you decide when a drug is not worth it? What I CAN do at this stage is make it ok to talk about co-pays & expenses in clinic - I ask my pts about their #financialtoxicity.

                  If you are a patient or caregiver you may continue this discussion on the Smart Patients Platform ). 

                  We hope to see you next month on July 11, 2018 at 9pm ET when we discuss Hereditary versus Somatic Mutations.

                  Please continue to tag your tweets with #gyncsm with information and news important to our community. 

                  See you next month. 
                  Co-founder #gyncsm 


                  Presidents Panel: Cancer costs and value

                  @CancerDotNet :
                  Managing Care
                  Making Decisions
                  Financial Toxicity
                  Understanding Cost related to Cancer Care

                  ASCO Value Framework

                  Value: The Next Frontier in Cancer Care

                  QALYs in 2018

                  @sloan_kettering Abacus a drug pricing lab/tool


                  @ascopost clinical benefits/cost of Car-T cell therapy

                  NCCN White Paper

                  What is value in healthcare? via #hcldr

                  Crowdfunding for Prostate Cancer and Breast Cancer

                  How Should We Define Value in Cancer Care?

                  Charges and costs aren’t the same thing

                  Spending on cancer drugs in the U.S. has doubled in the last five years, and will double again

                  How do Patients Define Value in Cancer Care

                  Friday, June 8, 2018

                  June 13, 2018 Let's Define Value of Care

                  Over the past few years there have been many discussions and articles written on the value of different health care treatments, technologies and protocols. As we see amazing developments in targeted therapies, we see rising costs for those same cancer treatments. Spending on cancer treatments has doubled in five years. We talk in "QALY" Quality-adjusted life years. We hear of financial toxicity. How do we measure outcomes to determine which treatment is of value? We have had these type of discussions online and around our dining room tables. Other online communities such as the #hlcldr community have had this discussion ( Organizations such as NCCN, ASCO and SGO have presented their recommendations for finding value of cancer care.

                  This month we will be discussing Value of Care with special guest, Sarah Temkin, MD (@temkins). Dr Temkin is a co-author of the article "The "Value" of value in gynecologic oncology practice in the United States: Society of Gynecologic Oncology evidence-based review and recommendations". You may read the article at

                  Our Chat will be guided by these questions:

                  T1a: There been a lot of discussion in recent years about "value of care". Why is it important?
                  T1b: How do YOU define the "value of care" you give and/or receive as a patient, loved one, healthcare professional, etc?

                  T2: In addition to price, what other information would you need in order to make a judgment on the value of the care you receive (procedures/chemo/visits/etc.)?

                  T3: What are Quality-adjusted life years (QALY)? How do we measure outcomes? What elements are large medical organizations (incl. ASCO and SGO) including in their recommendations on value of care?

                  T4: How are rising drug, immunotherapy and targeted therapy prices impacting the evaluation of which treatments are of value? How have rising drug costs impacted you?

                  T5: What is being done to encourage including discussions around cost as part of the treatment plan? Are cost and financial toxicity discussions happening during office visits? Do payment models impact care?

                  #gyncsm co-founder

                  Wednesday, May 9, 2018

                  Palliative Care- When and Why - May 2018

                  For this month's chat, Palliative Care - When and Why, we welcomed guest Christian Sinclair (@ctsinclair), a palliative care and hospice physician, editor of Pallimed and founder of the #hpm community on Twitter. Fifty-four participants made over 2.3 million impressions during the hour chat. You may find more analytics here and the transcript here.

                  Here is a sampling of responses. Please scroll down for Resources. 

                  What do you think of when you hear the term "palliative care"? What does it mean to you?
                  • PalliativeCare is symptom management offering emotional support, to patient and family. At any time during Cancer dx not just eol.
                  • Living life on your terms with the help of team of healthcare professionals who support the patient and family
                  • Palliative care-I think of a critical piece of overall care during serious illness, pain, and end of life.
                  •  I think of palliative care as an opportunity for someone to receive whatever support (pain management, counseling, home care, accessing info/resources, etc.) they may need when progressing through a health problem that may be life limiting #gyncsm
                  • Palliative care should be available at any age and any stage. The goal is support. 
                  • We #hpm docs spend quite a bit of time clarifying perceptions of the field (ie. its not just end of life care). Our #PalliativeCare thermometer highlights the domains of a person's care that may be of importance to them! #Palliative Care is whole person care!
                  This first question also began a discussion regarding the term "Palliative care". Some felt that the term may actually turn patients off from getting the care they need. Some centers use the term Supportive care. Sinclair responded "There are lots of debate inside and outside the palliative care community about finding the best name. Ultimately it comes down to organizational/community culture, and making sure the clinicians feel comfortable introducing the concept as concurrent, not either/or".

                  When do cancer patients tend to get referred to a palliative care specialist? Do you find this to be a tricky conversation? Patients - Did anyone on your care team discuss palliative care with you?
                  • ASCO recommends PalliativeCare is offered within 8 weeks after dx
                  • We are seeing more family and patient-initiated #pallaitive care referrals. As they realize they can have more support, they are starting to ask for it and our oncologists are open to collaborating with us. Caveat: I am in an academic med center in a metro area.
                  • Patients with advanced cancer should be referred to #pallativeCare early and it should be an integral part of treatment, not just something added on near the end of life
                  • I see them referred too late. Palliative care is still associated with end of life & have been told “they aren’t ready for that”. Who’s not ready for patient centered care that views the whole person not the illness & manages all symptoms physical, emotional, etc.?!

                  Why is knowledge of and access to palliative care throughout cancer treatment important? Does Medicare/Insurance cover palliative care? Are there specialists in rural areas?
                  • For this chat I found this @ASCO Connection article : Telemedicine has been used for those in rural areas.
                  • Looking at symptom management by a specialist in the field offers a complementary approach to managing the disease itself by treating the patient as a whole being. Services are covered but often require copay. Rural areas often lack service
                  • Medicare covers PalliativeCare for symptom management in some extent Improving Quality of Life and prolong survival.
                  • #Telehealth show great promise is rural settings, along w/ patients' willingness to engage. Telehealth reduce travel needs, removing physical and financial burdens associated with travel. Telehealth utilization for #pallativeCare is emerging rapidly

                  What are medical and advocacy organizations doing to promote palliative care for cancer patients? How can patients advocate for themselves?

                  What do you wish you knew about palliative care at the beginning of your experience with a cancer-related diagnosis? For those who have worked with a palliative care specialist, what was most helpful? most challenging?
                  • I think more and more patients appear to be more empowered to not just get the latest greatest cutting edge research treatment, but to make sure they get all their needs met. Aiming for whole person care. To be fair though, advocating for yourself is really hard work
                  • Considering how much time we have to spend talking through acute issues with my GynOnc since I’ve been terminal, it’s not surprising we don’t talk about palliative care. I’m focused on getting more Oncs to have this talk when cases aren’t as complicated.
                  • I wish I had known when my dad was diagnosed that pts in #palliativecare can still go to PT and OT to help them gain the strength to return home for EOL. It would have saved so much pain for him while he tried to get strong enough to return home.

                  If you are a caregiver or patient you may continue this discussion online on the Smart Patients platform at .

                  Be sure to check our resources below.

                  Join us next month on June 9th for Let's Discuss Value of Care.

                  See you then.

                  #gyncsm Co-founder

                  Perceptions of #palliative care by people with adv cancer and their caregivers

                  Association between a name change from palliative to supportive care and the timing of patient referrals at a comprehensive cancer center.

                  Predictors of high symptom burden in gynecologic oncology outpatients: who should be referred to outpatient palliative care?

                  Practice Patterns, Attitudes, and Barriers to Palliative Care Consultation by Gynecologic Oncologists.

                  Economics of Palliative Care for Hospitalized Adults With Serious Illness

                  Palliative Care in the Global Setting Resource-Stratified Guideline

                  @theNCI Palliative Care in Cancer Care

                  @Cancerdotnet Caring for the symptoms of cancer and its treatment


                  Dana Farber

                  How Does Palliative Care Help Cancer Patients? | Dana-Farber ...

                  ASCO Connection: Telemedicine in Palliative and Supportive Care: A Continuing Conversation

                  Links to Palliative Care Graphics Shared: