GenPath Women’s Health, in collaboration with GeneDX, both of which are divisions of BioReference Laboratories Inc., announced a genetic screening test that will identify more than 550 mutations in over 160 diseases. The Pan-Ethnic Carrier Screen is a simple blood test and will be the most comprehensive genetic screening test offered by any laboratory; it will allow individuals from at-risk groups, as well as individuals who are unsure if they are at-risk, to determine the likelihood of dangerous genetic mutations being passed on to their children. Offered primarily through GenPath Women’s Health which has contracts with most national insurance plans, the test will be offered by the patient’s physician, obstetrician or genetic counselor during the first trimester or prior to conception.

“This test is another illustration of our world-class leadership and innovation in genomic testing. It is more testing for more genes or mutations but, more than that, it is the strength of the physicians and scientists at BioReference who have developed and stand behind this test that differentiates us in the market.” said Marc D. Grodman, MD, President and CEO of Bio-Reference Laboratories. “Because our test can identify such a broad and diverse range of genetic mutations and diseases, the value we will provide to women and their families is undeniable. These parents will be able to go through genetic counseling armed with accurate information about potential risks to their children.”

In addition to the wide scope of genetic mutations and diseases that can be identified through the test, physicians and patients will receive a detailed, easy to read and understand summary of the screening on a clinical report. The report will illustrate tracking for any mutations on a circular graph. The two graphs – one for a man and one for a woman – are then overlaid. If none of the mutations line up, meaning they are not shared by both parties, there is little danger. Where they do line up, meaning they do share a mutation, the couple can then be counseled as to the risks and options.

The test will be available from GenPath in January 2012.

-Richard Park