Photograph: David Gee/Alamy
Genomics England is to test whether sequencing babies’ genomes at birth could help speed up the diagnosis of around 200 rare genetic diseases and ensure faster access to treatment.
The study, which will sequence the genomes of 100,000 babies over the next two years, will explore the cost-effectiveness of the approach, as well as new parents’ willingness to accept it.
Although the researchers only search the babies’ genomes for genetic conditions that appear during infancy and for which an effective treatment already exists, their sequences will be kept on file. This could open the door to further tests that could identify incurable adult-onset conditions or other genetically determined traits in the future.
“One difficult thing with newborn genomes is that they will potentially accompany people from cradle to grave,” said Sarah Norcross, director of the Progress Educational Trust (PET), an independent charity that improves choices for people affected by infertility and genetic conditions.
Ensuring the confidentiality of this data is therefore essential. “People need to be able to trust that any data collected will only be used in the agreed manner and for the stated purpose,” Norcross said.
Every year around 3,000 children are born in the UK with a rare treatable condition that could be detected using genome sequencing. Although newborns are currently being offered a heel prick test to screen their blood for signs of nine rare but serious diseases, such as sickle cell disease and cystic fibrosis, whole genome sequencing could enable hundreds of other diseases of this type to be diagnosed at birth.
Currently, these diseases are usually only diagnosed once a child develops symptoms, often after months or years of testing. One such condition is biotinidase deficiency, an inherited condition in which the body is unable to recycle the vitamin biotin. Affected children may have seizures and delays in reaching developmental milestones and have vision or hearing problems, but early diagnosis and treatment with biotin supplements can prevent this deterioration and keep them healthy. health.
Dr Richard Scott, Chief Medical Officer of Genomics England, said: “At present the average time to diagnosis of a rare disease is around five years. It can be an extraordinary ordeal for families, and it also puts a strain on the healthcare system. The question this program answers is: ‘is there a way to get ahead of this?’
The study aims to recruit 100,000 newborns to undergo voluntary whole genome sequencing over the next two years, to assess the feasibility and effectiveness of the technology – including whether it could save money. money to the NHS by preventing serious illnesses.
It will also explore how researchers could access an anonymized version of this database to study people as they age, and whether a person’s genome could be used throughout their lifetime to inform future decisions. in health care. For example, if someone develops cancer when they are older, it may be possible to use their stored genetic information to help diagnose and treat it.
According to a study commissioned by PET earlier this year, 57% of the UK public would support the storage of genetic data in a national database, as long as it is only accessible to people sequenced and healthcare professionals involved in their care. Only 12% of people opposed it.
Of greater concern would be the storage of a person’s genetic data for the use of government authorities, including the police, with the person being identifiable by those authorities. This was supported by 40% of people and opposed by 25%. Norcross said that although Genomics England has good safeguards in place to provide research access to genomic data, “this risk can never be completely eliminated”.
Scott stressed that the purpose of the trial was to explore whether the potential benefits of newborn sequencing stack up and to engage in a truly national debate about whether the technology is something with which people feel comfortable. “The bottom line here is that we take a cautious approach and develop a joint nationwide view of the right approach and the right safeguards,” he said.
Others have raised concerns about the potential for false or uncertain results. Frances Flinter, Emeritus Professor of Clinical Genetics at Guy’s & St Thomas NHS Foundation Trust, and member of the Nuffield Council on Bioethics, said: “Using whole genome sequencing to screen newborn babies is a step in the right direction. ‘unknown. Finding the right balance between pros and cons will be crucial. The potential benefits are early diagnosis and treatment of more babies with genetic conditions. The potential harms are false or uncertain results, unnecessary anxiety for parents, and lack of good follow-up care for babies with a positive screen result.
“We must not rush to use this technology until the science and ethics are ready. This research program could provide important new evidence on both. We just hope that the question of whether we should do this is still open. »