MultiHub Forum

I recently received my raw DNA data from a commercial testing service, and out of curiosity, I uploaded it to a third-party platform for a more detailed health report. It flagged a heterozygous mutation in the BRCA2 gene, which has me quite concerned. I understand these direct-to-consumer reports aren't diagnostic, but I'm unsure of the next steps. Should I consult a genetic counselor based on this preliminary finding, and how do I approach my primary care physician with this information? I have a limited family medical history, which complicates the risk assessment. What has been the experience of others who have pursued clinical follow-up for a variant of uncertain significance from a recreational genetics report?

A few practical steps for moving forward: keep a detailed log of any family history that's relevant, collect prior test results, and be prepared for a series of questions about your medical history and relatives. You can also ask about whether your insurer covers genetic counseling and testing, and what consent and privacy options exist. If you’d like, I can draft a checklist of questions to bring to your appointment.