How many goodly creatures are there here!”
- from Brave New World by Aldous Huxley
This blog submission was contributed by Robb Hughes, our finance director with a curious technology mind.
According to an article in Technology Review, Counsyl, a Redwood City, California, start-up, brilliantly timed its unveiling with the release of the movie Extraordinary Measures. The drama is inspired by a true story of a man who risked his future to pursue a cure for Pompe disease, a disorder often fatal to children and one of the genetic defects that Counsyl’s test can detect.
Millions of children die each year from preventable genetic disease; Counsyl is on a mission to prevent it. Sometimes free with insurance or for $349, prospective parents can order a DIY at-home genetic test kit that screens for more than 100 rare genetic diseases like cystic fibrosis, SMA, sickle cell, and Tay-Sachs. These diseases while not curable, can be prevented.
The test is non-invasive, quick and simple. Both parents spit into a tube (see photo), seal it, and send it via regular mail to Counsyl. Results are available online in 2-3 weeks. If the pregnancy is deemed high risk for a rare disease, Counsyl can refer patients to a qualified physician or genetic counselor for assistance mitigating risks.
Read more about it at www.counsyl.com
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