Dubai, United Arab Emirates (CNN) — The United Kingdom is set to start sequencing the genomes of 100,000 newborns later this year. This would be the largest study of its kind to map the entire set of genetic instructions to children, and potentially have major implications for the field of pediatrics.
The $126 million Newborn Genomes Program will screen for nearly 200 rare but treatable genetic conditions, with the goal of alleviating the suffering of children and their families who sometimes have to struggle to obtain a diagnosis with conventional tests.
By speeding up the diagnosis process, early treatment of infants can prevent the development of many severe conditions.
But the project raised many of the age-old ethical questions about genetics, acknowledgment, data privacy and infant care priorities.
Curtail a long trip
As in other countries, many children in the UK are screened for a number of treatable conditions with a small blood sample.
Also known as the heel prick test, this method is a routine procedure that currently covers 9 conditions, including sickle cell disease, cystic fibrosis, and inherited metabolic disorders.
Some of the cases tested recorded discrepancies that may not register a positive result, and the consequences may be life-changing.
Congenital hyperthyroidism, which affects the growth and development of the nervous system, is one such example.
The Newborn Genome Program will check for one or more types of congenital hypothyroidism that the heel-prick test cannot detect.
“Suddenly, you can make a diagnosis, and it can be a game-changer, or this child’s life,” said Krishna Chatterjee, a professor of endocrinology at the University of Cambridge.
Find a hundred thousand babies
The program is led by Genomics England, which is part of the UK Department of Health and Social Care.
And the company stated that each of the 200 cases, which will be subject to examination, was selected for the presence of evidence indicating that it is caused by genetic variants, and for being debilitating, in addition to the availability of treatment for all through the National Health Service in Britain (NHS).
Richard Scott, chief medical officer and deputy chief executive at Genomics England, said the program aims to return test results to families within two weeks.
Although some obstacles have fallen in the way of genetic testing, many societal factors remain constant.
Although the feedback resulting from the public consultation before the launch of the project in the United Kingdom was generally positive, some participants expressed concerns about the influence of religious views on the level of turnout, while some expressed their doubts and mistrust towards current scientific developments in the field of healthcare, according to for a report on its results.
Information protection
The sequenced genomes will enter a secure data bank on the same model as the National Genomic Research Library, where they will be identified and assigned a reference number.
Researchers from the NHS, universities and pharmaceutical companies can apply for access to the National Genomic Research Library (for a fee in some cases), with applications approved by an independent committee, which includes participants who have provided samples.
There are a lot of restrictions, the data cannot be accessed for insurance or marketing purposes for example.
And when they turn 16, kids can make their own decision about whether or not their data should stay in the system.
Impact evaluation
After the sample collection window closes after two years, it will start analyzing the costs and benefits of the program and developing evidence for the UK’s National Screening Committee, which advises the government and the NHS on screening policies.
According to Chatterjee, it can take a lifetime to measure the economic savings from early diagnosis of certain diseases, pointing to the costs of educating children with special needs and supporting adults with rare genetic conditions.
He added, “I’m sure this cost-benefit equation will strike a balance.”
Although many people see genome sequencing as an extension of existing tests, they don’t think it will become standard practice for newborns.
“I don’t think you can force something like this,” said Eric Topol, a professor of molecular medicine at the Scripps Research Institute.
Then Topol, who is not associated with the UK Genome Sequencing Initiative, added: “We’re going to have an anti-genome community, let’s face it.”
