Carriers of a genetic mutation caused by the ABCC8 gene which can result in children with congenital hyperinsulinism (HI), can now be tested at fertility clinics in many locations around the country through a simple saliva test. The test, made by a California company, Counsyl, actually screens for 100 different rare disorders including HI. An article in the January 29th, 2010 New York Times describes the potential benefits as well as some possible negative consequences of widespread testing.
In evaluating the potential for this test to prevent damage caused by untimely diagnosis of HI, it is important to remember that a number of different genetic mutations are known to cause HI, and in many people, the genetic basis for HI is still not know. The efficacy of the Counsyl test has yet to be reviewed by outside experts. Still if the results turn out to be accurate and this test or others like it are widely used some time in the future, it could represent a great step forward for timely diagnosis and treatment of HI and other rare disorders.
Click here for the NY Times article.
Julie Raskin
V.P. Congenital Hyperinsulinism International
jraskin@congenitalhi.org
