Genomic sequencing has proven irresistible to both researchers and consumers. But while it holds great promise in disease intervention, ethical concerns are vast and complex. This is especially true when gene sequencing is undertaken for infants and children.
A recent article in Pediatrics challenged a protocol change to the BabySeq Project, an ongoing study funded by the National Institutes of Health (NIH), whose aim is to explore the medical, behavioral, and economic consequences of genomic sequencing in both healthy and sick newborns. Infants who are enrolled are randomly assigned to receive standard of care or standard of care plus sequencing.
The study protocol initially specified that only childhood-onset conditions would be communicated to parents. Later, however, it was altered when one infant was found to carry a BRCA2 gene mutation (associated with breast and ovarian cancers in adults), prompting the researchers to seek permission from the institutional review board to disclose information about such adult-onset conditions as well. The revised protocol stipulated that parents who enrolled their infants in the study must agree to receive results of all variants in the 59 genes outlined by the American College of Medical Genetics and Genomics. Unlike many clinical protocols for such information exchanges, there was no opt-out provision.
The protocol change was justified as a "family benefit"; alerting parents to their own risks would allow them to seek appropriate treatment and remain "alive and well" to care for their child. But the authors of the Pediatrics paper disagreed. They referenced "a consensus within the pediatric, genetics, and ethics communities . . . that children should not be tested for adult-onset-only conditions," and offered two arguments in support of this position: "(1) the information is not clinically relevant to the child, and so testing is 'not medically indicated' and could create anxiety without any potential for intervention; and (2) it preserves the child's autonomy to decide as an adult whether to undergo testing."
A 2018 report by the Hastings Center, a bioethics research organization in Garrison, New York, echoed this opinion, noting that the relationship between genes and diseases is not yet fully understood and the meaning of many sequence variations is still unclear. "We do not see the widespread adoption of whole genome sequencing in newborns as inevitable," wrote the authors. Though the Hastings report acknowledged multiple benefits of sequencing for newborns, it called for a nuanced approach.
Douglas P. Olsen, PhD, RN, an associate professor at the Michigan State University College of Nursing and a contributing editor of AJN, agrees that nuance is key. "For some there may be advantages in knowing," he told AJN. "If you are at higher risk for posttraumatic stress disorder, should you avoid military service?" But complexities arise when others gain access to the genetic information, including possible genetic discrimination-a term used by the NIH to describe situations in which people "are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder." Olsen posed the theoretical example of nurses at risk for back problems being barred by their employers from working in orthopedics.
Such discrimination is prohibited by the 2008 Genetic Information Nondiscrimination Act. But the landscape is complicated by direct-to-consumer genetic testing companies such as 23andMe and AncestryDNA, which are not bound by clinical privacy laws such as the Health Insurance Portability and Accountability Act and which also vary privacy practices according to where their customers live. Residents of California and countries in the European Union have more safeguards owing to laws governing data collection and sharing and the security of digital storage.
The debate over disclosure and use of genetic information is likely to become more complicated as DNA testing moves beyond clinical and research settings. While direct-to-consumer offerings may seem harmless, Olsen said databases compiled from customers' genetic contributions are fast becoming commercial, political, and even forensic gold mines.-Dalia Sofer