Newborn sequencing

Whole genome tests can help identify the cause of a baby’s mysterious illness. But ethicists say it’s still too soon to use them for all infants.

Babies are tested for a number of conditions soon after birth, but varied approaches to screening worldwide highlight how fragmented the medical profession remains over this vital process.

A decade ago, it seemed inevitable that every newborn would get a complete gene scan. But there are technical challenges and practical concerns.Dr. Robert Green, from Brigham and Women’s Hospital in Boston, voiced one view about doing that: “If sequencing reveals health risks at any point in life, and if that’s good, then it’s better … Continued

Pediatric oncologist Dr. Lisa Diller, the Lillian Gollay Knafel Fellow at the Radcliffe Institute for Advanced Study, is exploring genetic testing in newborns that could help them escape severe health consequences.

As principal investigator on the BabySeq Project, Dr. Robert Green shares the findings from the project along with discussion on the expectations and benefits of sequencing healthy babies. Green states, “Suddenly the information available in the genome of even an apparently healthy individual is looking more robust, and the prospect of preventive genomics is looking … Continued

In the BabySeq Study, a total of 88% of sequenced neonates had carrier status for one or more rare genetic variants known to be associated with recessive diseases.

A trial called BabySeq, in which researchers performed genomic sequencing on 159 newborns, identified children susceptible to diseases that regular screening doesn’t look for.

Newborn DNA testing offers several potential benefits. Mainly, it could expand the number of conditions clinicians can test for before a child starts showing symptoms, giving them and patients a head start in handling the diseases.

Scientists were stunned by the number of babies with unanticipated genetic findings that could lead to disease prevention in the future.

Robert Green, MD, MPH, the projects’ principal investigator suggests “These results are unexpected and exciting, suggesting that if we examine enough well-established, disease-associated genes, we will unearth monogenic risk variants in more than 10 percent of purportedly healthy individuals.”

“Sequencing at birth could provide a template—a book of life, if you will —to predict conditions or decide what medications to use for an entire lifetime,” says Robert Green, a medical geneticist at Brigham and Women’s and professor at Harvard Medical School who is co-leading the study.

Only about 7 percent of families approached to take part in the BabySeq Project of Brigham Women’s Hospital and Boston Children’s Hospital eventually enrolled, with many citing a lack of interest in research, study logistics, and privacy concerns as reasons for declining to participate.

“According to Green, the Hastings report tries to take a broad view and is well done and well resourced. But he questioned whether recommendations of this type may be premature, considering that the research arms of NSIGHT are still early in the process of collecting, analyzing, and reporting their data.”