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 UK 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 screened, using mostly biochemical tests, for up to several dozen genetic diseases. They range from metabolic disorders that can be treated 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 Program will invite expecting parents in England who are receiving care through the National Health Service (NHS) to sign up 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, parents will only receive 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 spot at least 500 newborns with genetic disease. If such testing were used across the United Kingdom, researchers estimate it would find some 3000 babies per year with these diseases.
The project has public support, but some experts argue that the money would be better spent on expanding standard UK 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 economy is the big unanswered question,” says bioethicist Josephine Johnston of the Hastings Center.
The New York City project launched in September, is led by Columbia University geneticist Wendy Chung and supported by two firms. The 4-year effort will sequence DNA from 100,000 newborns for about 160 treatable diseases. Parents can opt to add 100 neurodevelopmental disorders that cannot be cured, but for which speech and physical therapy could help.
Chung says her team consulted with “every voice I could think of” to ensure the project was ethically designed. “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 longer disease list.
Both studies, which will also track the care given to babies with problems, aim to help policymakers decide whether newborn sequencing should become routine. The vast reach of the UK health service “gives us the real strength to ask those questions,” Scott says. In the United States, with its fractured health care system, such answers may be harder to get, Chung acknowledges.