Laura Hercher
Scientific American
Originally published 12 July 21
Here is an excerpt:
Current polygenic risk scores have limited predictive strength and reflect the shortcomings of genetic databases, which are overwhelmingly Eurocentric. Alicia Martin, an instructor at Massachusetts General Hospital and the Broad Institute of the Massachusetts Institute of Technology and Harvard University, says her research examining polygenic risk scores suggests “they don’t transfer well to other populations that have been understudied.” In fact, the National Institutes of Health announced in mid-June that it will be giving out $38 million in grants over five years to find ways to enhance disease prediction in diverse populations using polygenic risk scores. Speaking of Orchid, Martin says, “I think it is premature to try to roll this out.”
In an interview about embryo screening and ethics featured on the company’s Web site, Jonathan Anomaly, a University of Pennsylvania bioethicist, suggested the current biases are a problem to be solved by getting customers and doing the testing. “As I understand it,” he said, “Orchid is actively building statistical models to improve ancestry adaptation and adjustments for genetic risk scores, which will increase accessibility of the product to all individuals.”
Still, better data sets will not allay all concerns about embryo selection. The combined expense of testing and IVF means that unequal access to these technologies will continue to be an issue. In her Mendelspod interview, Siddiqui insisted, “We think that everyone who wants to have a baby should be able to, and we want our technology to be as accessible to everyone who wants it,” adding that the lack of insurance coverage for IVF is a major problem that needs to be addressed in the U.S.
But should insurance companies pay for fertile couples to embryo-shop? This issue is complicated, especially in light of the fact that polygenic risk scores can generate predictions for more than just heart disease and cancer. They can be devised for any trait with a heritable component, and existing models offer predictions for educational attainment, neuroticism and same-sex sexual behavior, all with the same caveats and limitations as Orchid’s current tests for major diseases. To be clear, tests for these behavioral traits are not part of Orchid’s current genetic panel. But when talking about tests the company does offer, Siddiqui suggested that the ultimate decision makers should be the parents-to-be. “I think at the end of the day, you have to respect patient autonomy,” she said.
