Physical exam along with first genetics appointment?

CeciliaVera

Hello there--If you had a physical exam along with your initial consultation with a geneticist re: BRCA 1 and BRCA 2, I'm curious to know what it was like.  The person who set up my appointment said the exam involves some "weird" things, such as measuring the head circumference, to check for genetic abnormalities when the family history is scant or unknown.  After all that has happened since diagnosis, it's hard to imagine anything too bizarre, but if you can tell me what to expect, I'd appreciate it!

Sending health and healing vibes to all.

lekker

At my first appointment with a GC, we talked and she helped me create my pedigree. Just from that, she ordered tests on my old colon polyp (who knew they kept those!) to see if there was an indication of Lynch Syndrome. When that came back negative, she ordered brca which was also negative. Then I had to go in for a physical exam with a geneticist (MD) to look for signs of other genetic cancer syndromes. She measured my head, examined my skin, looked at my gums.  Yes, an unusually large cranium can be indicative of a genetic issue - as can certain kinds of skin markings and freckles on mucous membranes. I think it's great that you will receive a comprehensive exam to decide which (if any) tests to order. Good luck with your appointment!