Testing newborns for a handful of specific childhood conditions is already commonplace in the U.S. “Newborn screening is often done without parental permission and has been justified on the grounds that the direct benefits to the child greatly outweigh the harms,” said Dr. Lainie Friedman Ross of the MacLean Center for Clinical Medical Ethics at the University of Chicago in Illinois, who co-authored the case study in Pediatrics, November 12.
However, these tests are done to identify conditions that can be diagnosed and treated early.
Sequencing all or large parts of a baby’s genome at birth could reveal genetic variations that increase risk for conditions that occur in childhood or not until adulthood. The conditions could be benign or ultimately be untreatable later, Ross said.
“To justify screening all infants in mandatory programs, we need to ensure that the benefits greatly outweigh the harms, and we cannot say this is the case for many of the variants we will identify by sequencing,” she told Reuters Health by email.
In 2014, the National Institutes of Health funded four projects to study the benefits and risks of genomic sequencing for newborns. One of them, the BabySeq Project, explored the medical, behavioral and economic impacts of sequencing. As part of that clinical trial, half of the babies were randomly assigned to receive sequencing along with usual care. And parental consent included an agreement to receive any results related to childhood-onset conditions.
During the study, however, a sequencing report showed that one baby carried a BRCA2 mutation, which can be associated with an increased risk of breast cancer. Although the family didn’t have a history of breast cancer, the research team felt moral distress about not being able to disclose the information because it wasn’t related to a childhood disease.
The BabySeq researchers approached their institutional review board and asked for permission to disclose it and then told the baby’s parents. Ultimately, the study protocol was modified to require all participating families to agree to receive information about adult-onset conditions, too.
When Ross and co-author Dr. Ellen Wright Clayton of the Vanderbilt University Medical Center in Nashville, Tennessee, read about the dilemma and the protocol change, they thought the decisions were morally problematic.
“If we do research on our children, we need to consider what rights they have to privacy (particularly about information that will not be relevant until they are adults) and what harms as well as what benefits may accrue from seeking out this information years or decades before it is necessary,” Ross said.
Generally, professionals in the pediatric, genetics and ethics communities agree that children shouldn’t be tested for adult-onset-only conditions, Ross and Clayton write. One argument against testing for adult risk emphasizes the child’s right to an “open future” and to make the choice as an adult about what they want to know.
The BabySeq researchers asserted that if the mother’s life might be saved by learning she is at increased risk for cancer, then the whole family, including the infant, benefits from having her alive, and that may outweigh other harms. But Ross and Clayton reject the argument for a “family benefit.”
“Until sequencing is ready for prime-time, the focus of pediatric sequencing should be exclusively on identifying diseases or conditions that can impact their present-day medical care,” Ross said.
In addition, questions about equity, access and affordability for future treatments or preventive measures arise, bioethicist Aaron Goldenberg of Case Western Reserve University in Cleveland, Ohio, writes in an accompanying editorial.
Medical professionals should avoid making assumptions about how patients from underserved communities may view these results, he writes, especially if the results could be used in discriminatory ways by future employers or insurance companies.
“It is crucial that this research include the potentially unique concerns and considerations within underserved or underrepresented communities,” he told Reuters Health in an email. “We may be reinforcing a system . . . (that) could ultimately exacerbate the very health disparities we hope genomic medicine can help address.”