Newborn Genomes Program: 100,000 Babies Will Be Screened for 200 Rare but Treatable Genetic Conditions in the UK
The United Kingdom will begin the genomes sequencing of 100,000 newborns later this year. It will be the most extensive study of its kind where they will map the babies' genetic instructions with implications to children's medicine.
What Is the Newborn Genomes Program?
According to Genomics England, they co-design and run an NHS-embedded research study to see the benefits, challenges, and practicalities of sequencing and analyzing newborns' genomes. They also hope that whole genome sequencing (WGS) will accelerate the diagnosis and access to treatments for rare genetic conditions.
The program aims to evaluate the utility, feasibility, and impact on the National Health Service of screening for many childhood-onset rare genetic conditions in newborns, including what support they need.
Early diagnosis and care for childhood-onset rare genetic conditions will screen babies' genomes. They will be sequenced and analyzed for a set of actionable genetic conditions that may affect their health and early years. The program aims to ensure timely diagnosis and treatment access and improve outcomes and quality of life for babies and their families.
The Newborn Genomes Program also hopes to understand how, with consent, the genomic and health data could be used for research to enable new diagnostic discoveries and the development of treatments. It also aims to explore the potential risks, benefits, and implications of storing individuals' genomes over their lifetime.
The NHS research pilot will coordinate clinical care with research and share feedback insights with parents through the NHS within a research protocol. The program ensures parents their work is human-centered, ethical, and translatable into clinical service.
Although the project aims to help kids and their families enjoy a quality life together with early diagnosis of any potential condition, it raises longstanding ethical questions around genetics, consent, data privacy, and priorities within infant healthcare, according to CNN.
Genomes Sequencing for Children's Medicine an Improvement From Heel Prick Test
The program will check the children's genomes for around 200 rare but treatable genetic conditions because they want babies to avoid the pain and anxiety of conventional testing, accelerate diagnostic processes, and offer early treatment to prevent severe conditions from developing.
In the UK and other countries, newborn babies are screened for numerous treatable conditions using the heel prick test. This has been the practice for over 50 years. It can determine nine conditions, including sickle cell disease, cystic fibrosis, and inherited metabolic disorders.
However, according to Eric Topol, an American cardiologist, and professor of molecular medicine at The Scripps Research Institute, who is not connected with the sequencing project, the heel prick test is already obsolete. It was reportedly very limited and takes weeks, and sometimes babies with serious metabolic abnormalities are already harmed before the results are out.
For instance, congenital hyperthyroidism, which is the absence or an underdeveloped thyroid gland, can affect one in 1,500 babies to 2,00babies in the U.K. Krishna Chatterjee, professor of endocrinology at the University of Cambridge, said if the treatment doesn't begin within the child's first six months of life, it could lead to deleterious neurodevelopmental consequences that cannot be prevented or reversed.
Richard Scott, chief medical officer and deputy CEO at Genomics England, said the screening results would be given to families in two weeks. They also expect that at least one in 200 babies will receive a diagnosis.
Chief scientist David Bentley believed that genome sequencing is cost-effect in the long term because people get sick and get tested for various kinds of diseases, and over time, the cost can mount up. So, genome sequencing is a much cheaper alternative.
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