Demystifying Genetics for Hereditary Breast and Ovarian Cancer Week
Oct 03, 2018
This week is Hereditary Breast and Ovarian Cancer Awareness and I was lucky enough to have three fabulous guests on Demystifying Genetics.
First Guest – Ellen Matlof, Genetic Counselor & Director, My Gene Counsel
Ellen is a genetic counsellor extraordinaire in Connecticut, USA, with many years experience working in the familial cancer setting. We discuss:
• The role of the Genetic Counselor and their role in the ordering and interpretation of genetic results
• What a gene is and what variants in a gene means
• The My Gene Counsel Living Lab Report
• Hereditary cancer testing including BRCA1 & BRCA2
• APOE testing and dementia
• Gene patenting
• Case studies of misinterpretation of genetic results due to no genetic counsellor being involved
Second Guest- Nicole
I go on to speak to Nicole. She has recently found out she has a BRCA2 mutation and was lovely enough to come on the podcast to share her story. We talk about how she came to have genetic testing, the impact it has had on her life and that of her family.
Third Guest – Krystal Barter – Founder of Pink Hope
Krystal has a very strong family history of breast cancer and she found out she had a BRCA1 mutation at 21. After having a preventative double mastectomy, Krystal founded an online support organisation called Pink Hope. Pink Hope is a fabulous resource.