“The F.D.A. mustn’t have permitted this out-of-date method for use for medical functions,” Dr. King mentioned. “Deceptive, falsely reassuring outcomes from their incomplete testing can price girls’s lives.”
How was the research carried out?
The research, which was offered on the American Faculty of Medical Genetics and Genomics annual assembly and has not been peer reviewed, was constructed round greater than 100,000 sufferers who underwent breast most cancers threat testing with Invitae, a diagnostic firm.
Regardless of the shortage of peer assessment and Invitae’s potential position as a enterprise competitor, genetic medication specialists not affiliated with Invitae mentioned in interviews that they discovered the work to be credible, notably as the corporate’s findings echo different, smaller research.
23andMe’s check focuses on BRCA1 and BRCA2, genes concerned in suppressing progress of irregular cells. Particularly, it seems to be for 3 infamous genetic variants, referred to as founder mutations. Invitae’s analysts expanded their search to incorporate hundreds of different variants.
Dr. Susan Klugman, vp for medical genetics on the American Faculty of Medical Genetics and Genomics, likened it to a broader spell-check. Whereas 23andMe seems to be for errors in a couple of paragraphs, the Invitae analysts used extra superior genetic know-how to go looking via 25 chapters. (Dr. Klugman was not concerned within the Invitae research.)
In about 5,000 topics, analysts recognized at the least one variant identified to considerably improve a person’s threat of breast and ovarian most cancers. Among the many Ashkenazi Jews within the constructive group, 81 % had one of many three founder mutations, suggesting that 23andMe’s check might be useful for them. Among the many relaxation, 94 % carried variants that will have didn’t be detected by 23andMe.
Why create a check that misses so many individuals?
One purpose is solely technical: To return to the literary metaphor, 23andMe isn’t set as much as scan whole genetic books the best way some labs are. So even when the corporate wished to search for different variants, that will not be attainable with out altering its method, mentioned Dr. Robert C. Inexperienced, a professor at Harvard Medical Faculty.