BRCA Positive and the Hard Choices that Follow

Darlena Cunha is a 36-year-old freelance writer and journalism professor at the University of Florida. When Darlena was in her early 30s, her mother, in her 50s with no personal history of breast cancer but a significant family history of cancer, sought out genetic testing and learned that she carried a mutation in the BRCA1 gene. Darlena learned that she carried the same mutation and began the journey of appointments with multiple specialists, discovering that while all would present her with options, no one would actually tell her what she should do. Story Reference Points: BRCA1 mutations and Darlena’s family history of cancer @ 1:30 Darlena’s mother tests positive for a BRCA1 mutation @ 5:20 Darlena and her sister’s single site genetic testing @ 6:45 Darlena’s experience with genetic counseling @ 9:46 Darlena’s experience with enhanced breast screening @ 12:09 Preventative mastectomy, recovery, and dealing with it all in the workplace @ 14:20 Prophylactic BSO looming @ 20:47 Impact of BRCA1 mutation on family planning @ 23:00 Impact on Darlena’s daughters @ 24:35 Need for more personalized risk assessments and recommendations @ 28:20 Links and Resources Reactions to Washington Post article@ 38:04 Barriers to genetic testing for other women, cost-effectiveness and insurance @ 41:00 Darlena on Twitter Darlena on LinkedIn Information on GINA (Genetic Information Non-Discrimination Act) Related pieces by Darlena: “I have the scary cancer mutation. When should I have my breasts removed?” Washington Post. March 18, 2018 “Breast Cancer and the Mom-God Fantasy” Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.