Sequencing projects will screen 200,000 newborns for disease genes

The idea of testing every newborn child for genes that could affect their health is being put to the test. The United Kingdom plans to sequence the genomes of 100,000 newborn babies. A similar project already underway in New York City will screen 100,000 babies for diseases.

Standard newborn screenings can't detect certain diseases. If the baby is given an early warning of a problem, it could save its life.

Figuring out who will get access to the data is one of the ethical questions raised by the full genomes of newborns. The company running the U.K. project is aware of the complexity of the questions. He says there is a need to detect more diseases in children.

Up to a dozen genetic diseases can be detected with a drop of blood from a newborn. There are a number of diseases that can be treated with a special diet or with drugs. There are many disorders that can be detected with whole-genome sequencing, such as diseases that can cause brain damage if left undetected.

Parents who receive care through the National Health Service in England will be invited to sign up for the Newborn genomes programme. 100,000 babies will be Enrolled over 2 years. Parents will only receive results for 200 diseases caused by well-studied genetic variants that are almost certain to cause symptoms before age 5, if they want to avoid raising the alarm about genes that only cause disease in adulthood. A bone marrow transplant is one of the treatments.

At least 500 babies are expected to be found with genetic disease. 3000 babies a year would be found with these diseases if testing were done across the UK.

Some experts argue that the money could be better spent on expanding standard U.K. screening, which currently covers just nine diseases. Others think that following up on the screening results will tax the health care system. The Hastings Center's bioethicist says the economics is the biggest unanswered question.

Wendy Chung is the leader of the New York City project. 100,000 newborns will have their genes sequence over the course of four years. It is possible for parents to add 100 disorders that can't be cured but which speech and physical therapy can help with.

Chung's team consulted with many people to make sure the project was ethically designed. We are being conservative. More than 75% of couples approaching New York-Presbyterian hospitals want to enroll, and most choose the longer disease list.

The studies aim to help policymakers decide if newborn Sequencing should become routine. Scott says the U.K. health service gives them the strength to ask those questions. Chung acknowledges that it may be more difficult to get answers in the US.