An infant genomic screening test conducted as part of a research study found that a newborn has the BRCA2 gene variant, which predisposes its carriers to a higher risk of adult-onset breast cancer. Should the researchers tell the baby's parents?
No, argued bioethicists Lainie Friedman Ross and Ellen Wright Clayton in a December 2019 article in Pediatrics. They asserted that "researchers should design their pediatric studies to avoid, when possible, identifying adult-onset-only genetic variants and that parents should not be offered the return of this information if discovered unless relevant for the child's current or imminent health." Why? Because imposed parental genetic ignorance somehow maintains the child's autonomy.
The BRCA2 finding stems from the BabySeq Project, in which parents agreed to have their newborns randomly assigned to either standard care or standard care plus genomic sequencing. The study aimed to find out if genetic testing provides additional benefits beyond those associated with the standard heel stick blood tests that currently screen for approximately 50 different disorders among newborns.
The BabySeq infant is indeed very unlikely to get breast cancer until reaching adulthood. However, the fact that the newborn carries that variant means that one of the parents does, too, and that is highly useful information. In fact, BabySeq researchers have just published an article in The American Journal of Human Genetics finding that parents of newborns who test positive for specific genetic risks take action to protect not only their children, but also themselves.
The researchers found that out of 159 infants sequenced, 17 (10.7 percent) of them had unanticipated monogenic disease risks. Genes predisposing the newborns to higher risks for various cardiomyopathies, hearing loss, hormone deficiencies, and cancers were identified.
Given this risk information, most families had their infants evaluated by relevant medical specialists and also had themselves tested for the genetic variants identified through the screening of their newborns. Three of the mothers found to be carrying genetic variants predisposing them to breast and colon cancers subsequently got "life-saving risk-reducing surgeries." A significant upshot is that these children are now more likely to have their mothers around as they grow up.
Earlier research reported that informing parents about the genetic risks identified by sequencing their newborns "found no evidence of persistent negative psychosocial effect in any domain." In other words, the bioethicists are wrong: Enforcing genetic ignorance does not increase people's autonomy; it diminishes it.
(For more background, see my article: "Warning: Bioethics May Be Hazardous to Your Health.")