Individuals identified as needing homozygous FH evaluation will receive confirmatory genetic testing from Invitae and genetic counseling from Genome Medical.
Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.
In 125,000 de-identified Invitae customers with and without a personal or family history of cancer, 23andMe's DTC test would have missed almost 90 percent of BRCA mutations.
By focusing too heavily on family history, the Preventive Services Task Force is missing many opportunities for prevention, patient advocates, industry players, and researchers say.
MSK's PathoMAN achieved 94 percent and 81 percent concordance with results from three commercial labs for pathogenic and benign variants, respectively.
Invitae hasn't priced the offering yet or disclosed how many shares it will offer, but it expects net proceeds to range from $117.1 million to $134.7 million.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.
