A Medical Crystal Ball

If you had a genetic mutation associated with an increased risk of a disease, would you want to know?

A Google co-founder, Sergey Brin, found out that he has a mutation which significantly increases his risk of developing Parkinson’s disease (PD).  He actually could have predicted his increased risk because his mom and her aunt both have PD.  Now he knows that he has the same mutation which as his mother.  According to some research, 85% of the people with this mutation who reach the age of 70 will have PD.

Would you want to know?

I’m not sure that I would.  There’s not anyway to prevent PD from developing although he could participate in research which might lead to preventative strategies.

Women who have the BRCA1 or BRCA2 mutation are at very high risk of developing breast cancer.  Estimates range from 36 to 85%.  Many women who test positive for these mutations choose to have prophylactic mastectomies.  If you’re not willing to do that, would you be tested for the mutation anyway?

You can have screening done by the same company as Brin — 23andMe.  It’s only $399.  They screen for 80+ “traits and diseases” plus ancestry and you can participate in research.

It’s tempting.  I’m such a science geek.