Couples can now buy cystic fibrosis and spinal muscular atrophy carrier screening tests through Amazon, though a doctor will have to approve the order.
Participants of the National Society of Genetic Counselors annual education conference highlighted the need for consensus guidelines for screening potential gamete donors.
The test was previously approved to detect and differentiate carbapenemase genes from bacterial isolates, and now has an expanded claim for testing directly from rectal swabs.
Researchers are studying the impacts of implementing multi-gene preconception carrier screening in the Netherlands, where such testing has been prohibited.
Genetic testing firm GenePeeks found discrepancies between carrier screening tests, although those firms found fault with its variant classification methods.
The study will evaluate GenePeeks' computational approach to assess reproductive risk compared to standard carrier screening in couples hoping to conceive a child.
