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Genome Sequencing Of 100,000 Newborns To Identify Genetic Diseases At Birth

new radical study is all set to conduct genome sequencing of 100,000 babies at birth to identify and expedite the process of diagnosis of over 200 rare genetic diseases.

Genomics England, a company owned by the Department of Health & Social Care (DHSC) in the U.K., has received funding of almost $130 million (£105 million) from the government and will be conducting the trials for the next two years, SkyNews reported.

The main objective of the Newborn Genomes Program is to analyze if using whole genome sequencing to diagnose genetic diseases affecting thousands of newborns is a feasible and effective approach. Researchers will study diseases that are treatable and affect children up to the age of five, as per Genomics England.

The funding made available for this research is part of a $215 million (£175 million) impetus by DHSC to “cutting-edge genomics research.”

DNA sequences of the babies will be stored to correlate or find a connection to adult-onset diseases or other genetically determined traits in the future. This could be a bone of contention between the parents and the scientists.

“One challenging thing with newborn genomes is that they will potentially accompany people from cradle to grave,” Sarah Norcross, director of the Progress Educational Trust (PET), said, as reported by The Guardian. “People must be able to trust that any data collected will only be used in the agreed way, and for the stated purpose.”

According to a survey by PET, 57% of the public in the U.K. would be okay with genetic information being stored in a national database as long as it is accessible only to the sequenced individual and their healthcare professionals, as per the outlet.

Currently, newborn babies are offered the heel-prick test, which can detect nine rare but serious conditions, such as sickle cell disease and cystic fibrosis using blood samples. The whole genome sequencing test will accompany the heel-prick test and will be voluntary.

According to the outlet, approximately 3,000 children born in the U.K. every year have a rare condition that could be detected using genome sequencing and is treatable.

“At the moment, the average time to diagnosis in a rare disease is about five years. This can be an extraordinary ordeal for families, and it also puts pressure on the health system. The question this program is responding to is: ‘is there a way that we can get ahead of this?'” Dr. Richard Scott, chief medical officer at Genomics England, reportedly said.

An example of a genetic disease that can be treated, if diagnosed early is biotinidase deficiency, a condition in which the body is unable to recycle biotin. Children with this condition might experience seizures, developmental delays, and impaired vision or hearing. But an early diagnosis of the disorder and treatment with biotin supplements can prevent these symptoms as well as keep the child healthy, according to the outlet.

“We want to be able to say to parents that we’ve done the best we can to identify and do something about these life-changing illnesses, in a timely way before the damage these conditions can cause has been done,” Scott commented, as per SkyNews.

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