Genetically Speaking Blog

What is a diagnosis worth? For my family, learning that our daughter, Amy, has the ultra-rare disorder xeroderma pigmentosum/ trichothiodystrophy (XP/TTD) complex after two decades of searching, the value is incalculable. For an insurance company, there is a definite amount — and in 2015 that amount was $9,500.

Every day it seems there’s a new at-home DNA test on the market, and two of the biggest testing companies – Ancestry.com and 23andMe – have sold over 30 million tests combined. If you’re considering an at-home DNA test, you may have questions. Can you rely on these tests to give you accurate medical information? Are they something you can use in place of a test ordered at your doctor’s office? If so, what do the results mean?

I’m a genetic counselor who works in a reproductive center. I sometimes see men who weren’t told that cancer treatments could significantly impact their chances of having children, and this isn’t only with the people I see. One study found that 50 percent of healthcare providers never introduce the topic, which is in contrast to 51 percent of the men saying they wanted to father a child in the future. In fact, 60 percent of the men said they didn’t know that cancer therapy could cause infertility.

I walk into the consultation room to find my patient with tears falling down her flushed cheeks as she tries to keep from audibly sobbing. Her husband holds her hand and avoids eye contact, looking scared and helpless. She is five months pregnant and just had an ultrasound appointment. They expected it to be filled with joy and to leave with cute ultrasound pictures, but instead they’re filled with fear and despair.