Raising Awareness About Genetic Counseling and Testing

Like many advocates of a cause, Amy Byer Shainman’s passion came from a place of frustration. Shainman underwent prophylactic surgeries in 2010 after learning that she was positive for a BRCA 1 gene mutation which put her at high risk for breast and ovarian cancer. Her sister’s 2008 cancer diagnosis prompted her to undergo genetic counseling and genetic testing, and she is now a health advocate for others at risk for hereditary cancers.

She is the Executive Producer of the hereditary cancer documentary PINK & BLUE which is out this fall. In addition, she is working hard to finally finish her BRCA memoir that she says has only taken her seven years to write! You can find her on Twitter or her blog.

In this interview with CURE, Shainman shares insights about her work in raising awareness about genetic counseling and genetic testing, prophylactic surgeries and available resources for oncology nurses and patients.

What has been your personal experience with hereditary cancer?

My hereditary cancer story started in 2008, or so I thought. It actually started way before then, back in 1934 when my paternal grandmother died of breast cancer at the age of 33. However, my family didn’t know the genetic part of the story back in 2008 when my sister was diagnosed with both ovarian and uterine cancer; two separate primary cancers. We only started to understand our family cancer connection in the fall of 2009 when my sister went to an ovarian cancer conference after she completed her last round of chemo. Her take-home message from that conference was: “get genetic testing!” My sister is the one who insisted on the genetic testing with her healthcare providers, and her genetic test results indicated she was positive for a BRCA1 gene mutation—specifically one of the three founder mutations associated with people of Ashkenazi Jewish descent.

My sister was 48 when she was diagnosed with both ovarian and uterine cancer, she was of Ashkenazi Jewish descent, and she was also under 50 years old. However, these risk factors weren’t red flags to her healthcare providers about hereditary cancer! It’s very frustrating—this is a huge reason why I’m an advocate. It’s important for me to get the knowledge about hereditary cancer and genetic mutations on the radar of not only patients but every healthcare provider out there regardless of their specialty or medical training.

Due to my sister’s BRCA1 positive genetic test result, I subsequently underwent genetic counseling and genetic testing. I also tested positive for the same BRCA1 gene mutation, which puts a woman at extraordinarily high risk for getting both breast and ovarian cancer. It’s important to note that my sister and I both inherited our BRCA1 gene mutation from our father; both men and women can carry and pass on a BRCA gene mutation to daughters and sons. The cancer risk ramifications are different for men than women, and overall men have a much lower percentage of increased cancer risk than women.However, men who carry a BRCA1 or 2 gene mutation still do have an increased risk for certain cancers and can pass on the gene mutation to offspring so men need to pay attention!

Although I have had prophylactic surgeries, I still get regular health screenings. My high risk oncologist monitors my tumor markers via blood tests—a CA 125 (ovarian tumor marker) and a CA 19-9 (pancreatic tumor marker). Plus, my high risk oncologist still conducts manual breast exams on me every 6 months plus writes a prescription for me to get a bone density scan every few years. While researching for my book, I found additional family medical history of other cancers: colon, pancreatic, melanoma, and glioma, so I am also extremely vigilant about going to my dermatologist for skin checks and having my opthamologist check my eyes for melanoma. I have already had a colonscopy, and I will soon have my first EUS (Endoscopic Ultrasound).

As for my prophylactic surgeries, I opted to have my uterus out (hysterectomy) in addition to a BSO (bilateral salpingo oophorectomy-ovaries and fallopian tubes out) due to my sister being diagnosed with uterine cancer in addition to ovarian cancer.

What advice overall would you give to high-risk individuals or patients considering preventive surgeries?

For anyone who has a family member with cancer, I think a smart idea to pay attention — not bury your head in the sand. It’s definitely in the best interest of your health. Get as much family history knowledge as you can and take that information to your doctor. Listen to your gut instinct. If you’re feeling unsettled with the information or lack of information you’re getting from your doctor, I really impress upon you to be assertive and request your doctor refer you to a genetics expert — a genetic counselor. The genetic counselor is the best person to throughly assess cancer risk. They are the ones who can ask those deeper questions, help put puzzle pieces together, and most importantly order the correct genetic testing panels and interpret the genetic test results accurately! A genetic counselor is key as there are so many gene mutations beyond BRCA, and new genes are emerging daily. The genetic counselor can refer you to oncologists and breast surgeons in your area.

As far as preventive surgeries, cancer risk management decisions are deeply personal. Whatever decisions you make yourself, you do have to be at peace with them. What is right for one person may not be right for another, and I think that’s very important to know and it’s very important for me as an advocate to remember. Just because I made my decisions to have preventive surgeries, that may not be what someone else decides to do and that’s OK. I think what’s really important, though, is for everybody to be educated. Understand your individual cancer risks, what they mean, and what all of your options are — if you aren’t going to go forward with preventive surgeries, (which really are the only option right now that BRCA carriers have to drastically reduce their cancer risk) you have to at least make sure to get to the information going forward on what your future health screenings/surveillance should be and/or other options available to you to reduce your cancer risk (such as taking tamoxifen). I would say find support somewhere! It doesn’t matter whether it is friends and family, an online group, a face to face meeting, or an organization — just get support somewhere. Do your own research and definitely be your own advocate.

I do encourage patients to get second opinions and even third opinions; a really good doctor/healthcare provider will usually get behind you and support you on this too. If they don’t, it’s a red flag for that provider! A lot of people have a hard time being their own health advocate and speaking up. Hopefully, I’m helping to fill a void by talking to people and encouraging them to step up/be assertive with their health when communicating with healthcare providers.

How has social media helped patients find information?

Social media has made resources instantly available with the touch of a button! For me, social media definitely empowers me to empower others. It’s such a fabulous tool — I can gather all the latest BRCA and hereditary cancer news, read the latest studies and science, stories, conferences, tweet chats, and then I can share that information with others via online communities. Social media has allowed me to take my advocacy to a whole new level and make connections directly with healthcare providers/individual physicians. I feel as a health advocate I’m a sort of a liaison, connector of the dots, between the patient and the physician. The more physician relationships that I can make only makes me a better advocate.

The private Facebook groups are great for one-on-one support. You can have a support group at a hospital, but people may be less likely to share because it’s a face-to-face support meeting. Social media can act like a safety net because you’re not actually seeing anybody. I think a lot of people feel very safe about that and it makes them much more comfortable to vent or share. Facebook also allows mastectomy photos. You can see different types of breast reconstruction. Many women show themselves with drains, what they look like right after surgery, or even 6 months after surgery.Social media is really an exciting new type of patient support and interaction.

Social media also allows someone to get support at any time of the day or night. If a patient is up at two o’clock in the morning and needs support, well, they can go on a private Facebook support group and always find someone there. It’s instant support. Finding someone any time of the day who can just listen and/who really understands what you’re going through a huge asset of social media.

Where do you see the future of genetic testing?

The future is here now! Genetics is the whole concept behind President Obama’s precision medicine initiative. Direct-to-consumer cancer genetic testing has happened due to the gene patent being lifted and competition in the marketplace. However, while I’m extremely supportive of universal access to genetic testing and very happy about the drop in genetic testing cost, I remain deeply concerned about genetic testing without the involvement of a genetics expert/genetic counselor.

Genetic testing is only as good as its interpretation. I want to say that again. Genetic testing is only as good as it’s interpretation! WHO is determining the patient’s family medical history? Is the father’s side of the family being included in the assessment? Which genetic panels are ordered? WHAT genetic testing panels are they ordering? WHO is interpreting the test result? WHEN the patient gets that information WHAT are they going to do with that information? The genetic counselor is an expert trained specifically to determine which genetic tests make sense for each patient (assessment) and then interpret what those test results actually mean.

I get angry when I hear firsthand of physicians in other specialities casually ordering “BRCA” testing for their patient with no discussion about the genetic counseling component. I hear via patients all the time that their doctor ordered them “BRCA testing” and no, they had no pretest or posttest discussion, no mention of genetic counseling. The fact is, there are so many gene mutations and genetic testing panels beyond BRCA! Genetic testing results negative or postive have meaning. These tests hold serious implications for a patient’s health. In addition, if a physician orders a BRCA panel test and the patient comes back with a “negative” or “variant of unknown significance” result, it doesn’t necessarily mean that the patient doesn’t have to worry about increased cancer risk.

WHY? It’s more than possible a different hereditary cancer genetic testing panel should have been ordered; the patient may have another gene mutation besides BRCA; there are so many other gene mutations beyond BRCA. What if a patient has something like an ATM gene mutation, Lynch Syndrome, or Li-Fraumeni syndrome? Also, it’s very possible the patient and physician are not aware that family history alone can increase cancer risk and that directly impacts a patient’s screening/surveillance recommendations. It’s more than possible a patient could walk away from a negative BRCA test result with a false sense of security ... thinking they don’t have to worry about cancer risk or gene mutations because they tested “negative” for “the gene. Many patients I talk to talk are tested for “the gene” not knowing much beyond that at all.

I believe in the concept of universal access to genetic testing. Unfortunately, many genetic testing companies and doctors do not require genetic counseling alongside the genetic testing. Genetic testing minus genetic counseling is an ethical slippery slope for me. I want a patient to have meaningful genetic testing results.You may find a genetic counselor near you by going to: The National Society of Genetic Counselors (http://nsgc.org). If there is not a genetic counselor available near you (or if one is unavailable in person in a timely manner), they are available via telephone through such companies as InformedDNA (http://informedDNA.com). Genetic testing results can have an impact on breast cancer treatment protocols, too, so breast surgeons want these answers in a timely manner for their patients. Genetic testing results are only meaningful with correct assessment and correct interpretation.

There is a huge need for more “in person” readily available certified genetic counselors.With the current direction of genetics and precision medicine, I feel genetic counseling is THE career of the future. So, that is my next direction in advocacy — connecting with high schools, colleges and medical schools, and exploiting genetic counseling as a career and the genetic counseling programs that are available.