The increasing clinical use of next generation sequencing, especially whole exome and whole genome, continues to be a hot topic. The ability to contribute to diagnosis, clinical utility, incidental findings and whether insurance will cover next-gen sequencing are all changing.
A Nature Medicine article lays out a lot of the emerging business issues on next-gen sequencing. On the topic of incidental findings, Buzzfeed science editor Virginia Hughes last week reported stories of women who receive a cancer diagnosis as a result of having a prenatal genetic test.
â€œThese cases, though extremely rare, are raising ethical questions about the unregulated â€“ and rapidly evolving â€“ genetic-testing industry,â€ Buzzfeed says.
At a recent Department of Pediatrics seminar, Emory geneticist Michael Gambello described examples of how whole exome sequencing, performed to diagnose intellectual disability or developmental problems in a child, can uncover cancer or neurodegenerative disease risk mutations in a parent. The question becomes, whether to notify the parent for something that may or may not be actionable. This is why Emory Genetics Laboratoryâ€™s whole exome sequencing service has an extensive â€œopt-in/opt-outâ€ consent process.
Emory Genetics Laboratory executive director Madhuri Hegde, working with the Association of Molecular Pathology, has been a leader in pushing genetic testing laboratories to adopt best practices.
â€œPatients have a choice whether or not to receive additional information that may be available as a result of a genetic test that looks across an entire genome of DNA,â€ she says in an AMP press release. â€œIn most cases, patients are interested in learning more, but itâ€™s critical that we educate them, as well as the ordering physician, about their options and what can and cannot be reported.â€
Hegde was a panelist at the February FDA workshop on regulation of new genetic tests. The FDA has announced plans to regulate this area more, and in February approved a 23andMe test, which industry watchers think is a sign of the future.