Genome Sequencing Trial to Test Benefit of Identifying Genetic Diseases at Birth | Genetics

Genomics England is testing whether sequencing babies’ genomes at birth could speed up the diagnosis of around 200 rare genetic diseases and provide faster access to treatment.

The study, which will sequence the genomes of 100,000 babies over the next two years, will investigate the cost-effectiveness of the approach, as well as how well new parents are willing to take it.

Although researchers will only search the babies’ genomes for genetic conditions that arose during early childhood and for which there is already an effective treatment, their sequences will be preserved. This could open the door to further tests that could identify incurable conditions in adulthood or other genetically determined traits in the future.

“One challenging thing with newborn genomes is that they will potentially follow people from the cradle to the grave,” said Sarah Norcross, director Progress Educational Trust (PET)an independent charity improving choices for people affected by infertility and genetic conditions.

Therefore, it is crucial to ensure the privacy of this data. “People need to be able to trust that any data collected will only be used in the agreed upon manner and for the stated purpose,” Norcross said.

Each year, approximately 3,000 children are born in the UK with a rare, treatable condition that can be detected by genome sequencing. Although newborns are currently offered a heel prick test to check their blood for signs of nine rare but serious conditions, such as sickle cell anemia and cystic fibrosis, whole-genome sequencing could make it possible to diagnose hundreds of other such conditions at birth.

Currently, such diseases are usually diagnosed only when a child develops symptoms, often after months or years of tests. One such condition is biotinidase deficiency, an inherited disorder in which the body is unable to recycle the vitamin biotin. Affected children may experience seizures and delay 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.

Dr Richard Scott, Chief Medical Officer at Genomics England, said: “Currently, the average time to diagnosis of a rare disease is about five years. This can be extremely trying for families, and it also puts pressure on the health care system. The question this program answers is: ‘Is there a way to prevent 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 can save the NHS money by preventing serious illness.

It will also explore how researchers could access an anonymized version of this database to study how people age and whether a person’s genome can be used throughout life to inform future healthcare decisions. For example, if someone develops cancer at an older age, there may be an opportunity for their stored genetic information to be used to help with diagnosis and treatment.

According to Research commissioned PET earlier this year, 57% of the UK public would support the storage of genetic data in a national database, provided it was only accessible to the sequenced individual and the health 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 use by government authorities, including the police, where that person could identify the person. This was supported by 40% of people and opposed by 25%. Norcross said that while Genomics England has good safeguards in place to provide research access to genomic data, “this risk can never be completely eliminated”.

Scott emphasized that the purpose of the trial was to explore whether there are potential benefits to newborn sequencing and to engage in a real national debate about whether the technology is something people feel comfortable with. “The bottom line here is that we take a cautious approach and develop a view together at the national level about what is the right approach and what are the right protections,” he said.

Others expressed concern about the possibility of false or unreliable results. Frances Flinter, Emeritus Professor of Clinical Genetics at Guy’s & St Thomas NHS Foundation Trust and member of the Nuffield Council for Bioethics, said: “Using whole genome sequencing to screen newborns is a step into the unknown. Striking the right balance between benefits and harms will be key. Potential benefits are early diagnosis and treatment for more babies with genetic disorders. Potential harms are false or uncertain results, unnecessary anxiety for parents, and lack of good follow-up care for babies who test positive.

“We must not race to use this technology before both the science and ethics are ready. This research program could provide new and important evidence on both. We just hope that the question of whether we should do it at all is still open.”