Today, November 8th is Genetic Counselor Awareness Day. Talk about a weird holiday no one knows about! Since this GC Awareness Day happened to fall on a Thursday, I wanted to do something special besides running my mouth about how cool and necessary genetic counselors are!
So this week I chatted with the wonderful Melinda McLain about her and her family’s experiences seeing genetic counselors and pursuing genetic testing. Melinda’s mother experienced both breast and ovarian cancer before being diagnosed with a BRCA2 genetic mutation. Several members of her family have since been tested for the mutation, each with a unique experience. I am excited she was willing to share with all of us her experience with genetic disease and genetic counseling.
As background for anyone new to cancer genetics, BRCA 1 and 2 are two of 20+ human genes which work to repress cancer. All people have the BRCA genes (and all of the cancer-fighting genes). When someone says they are “BRCA-positive” they mean they carry a mutation in one copy of either BRCA1 or BRCA2, a mutation that inhibits their body from fighting off uncontrolled cell growth. Mutations in BRCA genes have been associated with breast, ovarian cancer, and to a lesser degree, pancreatic and prostate cancers and melanoma.
Melinda first learned about her mutation risk during her mother’s treatment for ovarian cancer. Her mom had breast cancer in the early 2000s, and then ovarian cancer in 2015, at which point her oncologist pursued BRCA gene analysis. That testing revealed a harmful mutation in the BRCA2 gene. Melinda and her sister Angelique were present at their mom’s oncology appointment when she learned her BRCA analysis results, and both women decided to pursue testing that day. They both tested positive for that harmful mutation. Melinda’s daughter Hannah received testing later on, and she tested negative. Each of these women had a different experience with genetic counseling and testing, as well as the path they took from there. For Genetic Counselor Awareness Day, I wanted to share their stories of how they used or didn’t use genetic counseling, and what role that played in their care.
When Melinda tested positive and realized the implications of the results, she immediately knew she wanted to undergo a hysterectomy and mastectomy, to essentially eliminate her risk of breast and ovarian cancer. Still, her mom’s oncologist still recommended her post-test genetic counseling. She soon sought that counseling and reported that it helped her in a few ways. The genetic counselor’s extensive experience with hereditary breast cancer meant that she could recommend a surgeon who specializes in breast cancer and preventative mastectomies, with whom Melinda had a positive experience. The counselor also offered take-home resources and references which presented all of the information about BRCA-associated cancer risk in an organized fashion.
Melinda did share that she had gone into the appointment very informed and emotionally stable regarding the result, so she felt the GC session didn’t need to be as long as it was. Or, at least, she wished she had known it was billed by the half hour before allowing the counselor to talk so long! Still, she found her session somewhat helpful and noted that it could have been even more helpful if she’d seen the counselor before testing, or if she’d been less researched on or more frightened about the diagnosis.
She then shared the experience of her sister Angelique. Angelique decided not to pursue any surgeries or further intervention at that time, with the idea to potentially do those surgeries or seek more mammograms as she got older. However, in 2017 Angelique was diagnosed with stage 3 breast cancer and then underwent surgery, which led to some complications that made her recovery more difficult. Melinda shared how difficult it was to learn of her sister’s cancer diagnosis and then see her suffer through the challenges and complications that came with it, much harder than learning about her own cancer risk. Throughout that process, Angelique chose not to see a genetic counselor, a valid choice that many patients do make for a variety of reasons.
We then spoke briefly about Hannah’s experience. After her mom tested positive, Hannah sought out genetic counseling and BRCA mutation testing. She tested negative, and she found that out through her genetic counselor. Hannah was the only member of the family to receive any pre-test counseling. Though Hannah tested negative, the genetic counselor still played an important role in pre-test education and consenting, as well as giving Hannah someone to open her results with and discuss them if needed.
We have Genetic Counselor Awareness Day, because it’s so important that healthcare providers and patients are aware of genetic counselors and the role they can play in a care team. Not all patients will choose to see one and not all will choose to make their GC a long-term part of their healthcare team. I do believe if everyone knew the breadth of what a GC could do for them, more patients would choose to look into seeing one. No matter what a patient chooses to do with their genetic testing results, a counselor can be a guide to understanding the mutation or lack thereof, and a resource if the patient’s health is ever affected by it.
It was so insightful to hear how each family member reacted to having a hereditary cancer syndrome in the family, and if/how they chose to involve a genetic counselor in their healthcare team. Not all aspects of genetic counseling are helpful for every patient. Still, many patients share, as Melinda did, that they are glad to have another person on their team, another good source of information, referrals, and resources, and someone to discuss results with if needed. I also enjoyed hearing what she found less helpful in her session. As a future genetic counselor, she opened my eyes to the importance of tailoring sessions to meet patients’ needs. A well-researched and emotionally stable patient might need a quick review of their situation, and encouragement to follow through on the choices they want to make for their health. Other patients may need much further guidance and potentially several appointments. There’s something for a genetic counselor to offer every type of patient with genetic disease at every phase of their journey.
A huge thanks to Melinda and her family for sharing their story with me! And a shoutout to her daughter and my friend (and fellow genetics grad) Ellie McLain for helping me set this interview up for me!
It’s been super fun to learn from a patient’s perspective this week! Thank you for reading! In doing so you’ve celebrated Genetic Counselor Awareness Day– probably for the first time ever! (IMO you should all definitely take yourself out to dinner for GC Awareness Day).
‘Til next week!
If you are worried about a genetic disorder or a family history of a disease in your family, check out findageneticcounselor.com to see if there’s a genetic counselor near you who could help!