The once-futuristic idea of sequencing every newborn child’s DNA to screen for genes that could shape their future health is being put to two major tests. The United Kingdom today announced plans to sequence the genomes of 100,000 newborns for about 200 rare genetic diseases starting next year. In New York City, a similar project already underway will screen for a slightly larger number of diseases in 100,000 babies from the city’s diverse population.
The goal is to catch treatable diseases that standard newborn screenings cannot detect. If sequencing delivers an early warning of a problem, the baby could receive care that averts permanent disability or even death.
But sequencing the full genomes of newborns raises a host of ethical questions, including who will get access to the data, and whether it will needlessly worry parents by revealing genes that may never cause serious illness. “We’re really cognizant of the complexity of the questions,” says Richard Scott, chief medical officer for Genomics England, the government-funded company running the project. At the same time, he says, “There’s a really pressing need” to detect more childhood diseases.
In many countries, a drop of blood from every newborn’s heel is now screened, using mostly biochemical tests, for anywhere from a handful to dozens of genetic diseases. They range from metabolic disorders that can be prevented with a special diet to muscle diseases such as spinal muscular atrophy that have drug treatments. Whole-genome sequencing, which is much costlier—up to $1000—but is getting cheaper, could detect many more disorders, such as thyroid conditions that can cause brain damage if untreated.
Genomics England’s $129 million Newborn Genomes Programme will invite expecting parents in England who are receiving care through the National Health Service (NHS) to enroll starting in late 2023. The aim is to enroll 100,000 newborns over 2 years. To avoid raising the alarm about gene variants whose risk is uncertain or that only cause disease in adulthood, it will only return results for 200 diseases caused by well-studied genetic variants that are almost certain to cause symptoms before age 5. All are treatable, with measures ranging from a simple vitamin supplement to a bone marrow transplant.
The project expects to find about 500 newborns with one of the genetic diseases. If such testing were applied across the United Kingdom, it would find some 3000 babies per year with these diseases, the project’s leaders estimate.
The public was supportive when the project was proposed, but some experts argue the money would be better spent on expanding the United Kingdom’s standard screening, which now covers just nine diseases. Others say following up on the screening results will tax an already overstretched NHS. “It seems like the economics is the big unanswered question,” says bioethicist Josephine Johnston of the Hastings Center.
The New York City project launched in September has drawn less notice. Led by Columbia University geneticist Wendy Chung, it will sequence DNA from 100,000 newborns for about 158 treatable diseases. Parents can also opt to add 100 more neurological disorders that can’t be cured, but for which early speech and physical therapy could help. Chung says she doesn’t have the total cost for the 4-year project, which has support from sequencing companies as well as the National Institutes of Health, but “it’s not a cheap study.”
Her team consulted with “every voice I could think of” to make sure the project was ethically designed, Chung says. “I think we’re being somewhat conservative.” So far, about 75% of 600 couples approached at New York-Presbyterian hospitals want to enroll, and most opt for the more extensive list of diseases.
Both studies, which will also track whether babies with problems get the care they need, aim to help policymakers decide whether newborn sequencing should become a routine part of health care. The national, comprehensive reach of the U.K. health service “gives us the real strength to ask those questions,” Scott says. Such answers may be harder to get in the United States, given its fractured health care system, Chung acknowledges.
