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A Case of Embryonic Testing Ethics

A case study in JAMA Neurology earlier this week recounts the case of a 27-year-old woman who underwent genetic testing for the fatal, high-penetrance genetic prion disease Gerstmann-Sträussler-Sheinker syndrome.

When she heard the news that she was very likely to get the disease, the patient, Amanda Baxley, decided that she would not have children, the New York Times adds. The disease had been afflicting her family long enough, she says.

Baxley, though, has had children. She and her husband, Bradley Kalinsky, turned to preimplantation genetic diagnosis coupled with in vitro fertilization to ensure that those children will not develop GSS, a process the JAMA Neurology paper describes.

Ethicists, the Times notes, don't always agree on the use of preimplantation genetic diagnosis. For instance, bioethicist Janet Malek at East Carolina University says that people with gene variants for diseases like GSS have a duty to use preimplantation diagnosis, assuming they can afford it, so that their children are free of the disease, while Yeshiva University ethicist David

Wasserman says there is no obligation to use preimplantation diagnosis for adult-onset diseases, noting that such a stance would argue that people like Baxley shouldn’t have been born.

And then it gets even fuzzier for gene variants that only influence disease risk, the Times adds. Robert Klitzman, a clinical psychiatrist and bioethicist at Columbia University says diseases like breast cancer fall into a gray area, and "with the exploding use of the technology, we are increasingly confronting gray areas."

The Scan

Cancer Survival Linked to Mutational Burden in Pan-Cancer Analysis

A pan-cancer paper appearing in JCO Precision Oncology suggests tumor mutation patterns provide clues for predicting cancer survival that are independent of other prognostic factors.

Australian Survey Points to Public Support for Genetic Risk Disclosure in Relatives of At-Risk Individuals

A survey in the European Journal of Human Genetics suggests most adult Australians are in favor of finding out if a relative tests positive for a medically actionable genetic variant.

Study Links Evolution of Stony Coral Skeleton to Bicarbonate Transporter Gene

A PNAS paper focuses on a skeleton-related bicarbonate transporter gene introduced to stony coral ancestors by tandem duplication.

Hormone-Based Gene Therapy to Sterilize Domestic Cat

A new paper in Nature Communication suggests that gene therapy could be a safer alternative to spaying domestic cats.