This episode brings together the science, the medicine, and the lived experience behind BRCA mutations.

Emily Goldberg, JScreen's Director of Genetic Counseling Services, breaks down what these mutations are, how they're inherited, and what the actual cancer risks look like. Dr. Melissa Frey, a GYN oncologist at Cornell who works closely with high-risk families, walks us through what happens after someone tests positive — from screening to risk-reducing surgeries to the big conversations around fertility and timing.

We also hear from Heather Boussi, who shares her powerful story of living with both BRCA1 and BRCA2 mutations. She talks about diagnosis, surveillance, surgeries, and how this all shaped her family-building decisions.

Lastly, we look at what BRCA means for men, how that journey differs, and why PGT can still be an option.

If you or someone you love is navigating this, we close with places to turn for support: JScreen, Sharsheret, I Was Supposed To Have A Baby, and Stardust (links below). It's a mix of expertise, honesty, and heart — the kind of conversation so many people wish they had heard earlier, especially when faced with such difficult decisions.

Note: This episode is the 4th of a series of 5 that we are collaborating on with Jscreen in 2025.

Take a look at our previous three episodes here :

• Episode 157: Introduction to Genetics and Infertility

• Episode 166: Fragile X Syndrome: A Silent Factor in Infertility

• Episode 185: It's Not Just Her: Male Factor Fertility and Genetics Uncovered

Resources:

• Genetics and Personalized Cancer Prevention Program

• Facing Our Risk Empowered (FORCE)

• Jewish Fertility Foundation

• Stardust Foundation

• Sharsheret

• JScreen

More about Emily Goldberg:

Emily Goldberg serves as the Director of Genetic Counseling Services at jscreen, where she is dedicated to helping individuals understand and manage their genetic health. With dual bachelor's degrees in biology and psychology from Brandeis University and a master's degree in Human Genetics from Sarah Lawrence College, Ms. Goldberg has been a certified genetic counselor since 2011. Prior to joining jscreen, she worked at Montefiore Medical Center in the Bronx, specializing in prenatal and cancer genetics. In addition to her role at jscreen, Ms. Goldberg is committed to education, serving as an Instructor at the Albert Einstein College of Medicine and adjunct faculty at Sarah Lawrence College, where she teaches and mentors future genetic counselors. Her expertise and dedication make her a key member of the jscreen team.

Connect with JScreen:

- visit their website here

- check out their Instagram

More about Melissa Frey, MD:

Dr. Melissa Frey is an Associate Professor of Obstetrics and Gynecology in the division of Gynecologic Oncology and the Director of the Genetics and Personalized Cancer Prevention Program at Weill Cornell Medicine / NewYork Presbyterian Hospital. Dr. Frey's clinical care and research focus on the management of individuals with hereditary cancer syndromes (e.g. BRCA1, BRCA2, Lynch syndrome) and strong family history of breast and gynecologic cancers. She performs gynecologic cancer risk-reducing surgeries and is the principal investigator on several large trials aimed at cancer prevention among high-risk individuals. Dr. Frey has presented her research at national and international meetings and has more than 130 publications in peer-reviewed scientific journals.

Connect with Dr. Melissa Frey:

- check out her Instagram

- view the Genetics and Personalized Cancer Prevention Program website

More about Heather Boussi :

Heather grew up in Westchester, NY and now lives in Englewood, NJ with her husband and three children. Her personal experience with hereditary cancer risk and genetic testing has made her a passionate advocate for awareness, education, and empowerment in women's health. Grounded in faith and family, Heather shares her story to help others approach life's challenges with strength, perspective, and gratitude.

Connect with Heather:

- check out Heather's Instagram

Connect with us:

-Check out our Website

-Follow us on Instagram and send us a message

-Watch our TikToks

-Follow us on Facebook

-Watch us on YouTube

-Connect with us on LinkedIn