NEW YORK (GenomeWeb) – GenePeeks and Reproductive Medicine Associates of New York announced today that they will collaborate to recruit patients for a study evaluating the clinical performance of GenePeeks’ pre-conception risk testing in comparison to expanded traditional carrier screening.
The new study will enroll up to 200 prospective parents from whom researchers will collect saliva samples for next-gen sequencing. Investigators will then evaluate participants' reproductive risk using both traditional carrier screening and GenePeeks’ computational risk analysis, comparing the accuracies of the resulting risk profiles.
Unlike traditional carrier screening — which involves analysis of each prospective parent’s individual carrier status to determine whether he or she carries alleles for a predetermined list of genetic disorders — GenePeeks' approach uses a computational modeling method to digitally combine the genomic profiles of prospective parents into hundreds of thousands of virtual progeny. The company then evaluates the risk for more than 1,000 recessive genetic diseases associated with a wide variety of known and novel mutations in these virtual offspring.
In 2014, GenePeeks launched Matchright, a version of its test focused on helping women choose sperm donors.
The company has also said it eventually plans to offer an analogous test service for prospective parent couples. Data from the newly announced study could potentially support the clinical utility of this new application, which according to GenePeeks' website is planned for launch this year.
"We look forward to a rigorous examination of our predictive technology," Lee Silver, co-founder of GenePeeks and professor of molecular biology at Princeton University, said in a statement about the new collaboration.