recent radical study is all set to conduct genome sequencing of 100,000 babies at birth to discover and expedite the means of diagnosis of over 200 rare genetic diseases.
Genomics England, an organization owned by the Department of Health & Social Care (DHSC) within the U.K., has received funding of virtually $130 million (£105 million) from the federal government and will probably be conducting the trials for the following two years, SkyNews reported.
The essential objective of the Newborn Genomes Program is to investigate if using whole genome sequencing to diagnose genetic diseases affecting hundreds of newborns is a feasible and effective approach. Researchers will study diseases which are treatable and affect children as much as the age of 5, as per Genomics England.
The funding made available for this research is a component of a $215 million (£175 million) impetus by DHSC to “cutting-edge genomics research.”
DNA sequences of the babies will probably be stored to correlate or discover a connection to adult-onset diseases or other genetically determined traits in the long run. This could possibly be a bone of contention between the parents and the scientists.
“One difficult thing with newborn genomes is that they are going to potentially accompany people from cradle to grave,” Sarah Norcross, director of the Progress Educational Trust (PET), said, as reported by The Guardian. “People must have the ability to trust that any data collected will only be utilized in the agreed way, and for the stated purpose.”
Based on a survey by PET, 57% of the general public within the U.K. can be okay with genetic information being stored in a national database so long as it’s accessible only to the sequenced individual and their healthcare professionals, as per the outlet.
Currently, newborn babies are offered the heel-prick test, which may detect nine rare but serious conditions, similar to sickle cell disease and cystic fibrosis using blood samples. The entire genome sequencing test will accompany the heel-prick test and will probably be voluntary.
Based on the outlet, roughly 3,000 children born within the U.K. every yr have a rare condition that could possibly be detected using genome sequencing and is treatable.
“In the mean time, the typical time to diagnosis in a rare disease is about five years. This will be a rare ordeal for families, and it also puts pressure on the health system. The query this program is responding to is: ‘is there a way that we will get ahead of this?'” Dr. Richard Scott, chief medical officer at Genomics England, reportedly said.
An example of a genetic disease that will be treated, if diagnosed early is biotinidase deficiency, a condition wherein 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 in addition to keep the kid healthy, based on the outlet.
“We wish to have the ability to say to folks that we have done one of the best we will to discover and do something about these life-changing illnesses, in a timely way before the damage these conditions may cause has been done,” Scott commented, as per SkyNews.