For the past half century hospitals throughout the Western world have routinely tested newborn infants to determine their likelihood of developing several major diseases, including cystic fibrosis and sickle cell anemia. But the small blood sample test – known as the “heel prick” – isn’t infallible. Research shows that it fails to detect some diseases – for example, metabolic conditions like congenital hyperthyroidism – that need to be treated within a baby’s first 6 months of life or they become irreversible and permanently debilitating to the child through adulthood. UK begins massive genomic screening of newborns throughout the country.
Thanks to an enterprising partnership between Genomics England, a division of the Britain’s National Health Service, and Illumina, a private genomics research firm, some 100,000 newborn infants in the UK are likely to have their genomes tested over the next year; eventually 1 in 12 infants throughout England could be tested, officials say. The test won’t supplant the heel prick – which is mandatory – but will be offered on a voluntary basis to parents that request it. Based on early trials, the idea appears to have broad public appeal.
Officials say that the presence of some 200 different disease conditions will be tested under the new genomics program, a higher and more varied number than can be detected through a heel prick test alone. The 200 conditions were selected based on four main criteria: First, there is evidence it is caused by genetic variants; second, it has a debilitating effect, and third, early or pre-symptomatic treatment has been shown previously to have a life-improving impact; and fourth, treatment is already available for the condition through the NHS.
Because the program is strictly voluntary, parents will be expected to pay to have their newborns tested. It’s not clear whether the NHS will help offset the expense, at least for lower-income families, but the costs of genomic testing have shrunk considerably in just the past year or two. Illumina, for example, can conduct a genomics screening test for roughly $200, and the results are available within two weeks.
UK health officials say they are expecting a possible backlash from vocal critics of genomics testing who fear that test results could become public or sold off to private companies for commercial exploitation. Genomics England insists that all data will be closely protected and that children, once they reach the age of 16, will have the right to have their sequenced genomes eliminated from the NHS database.
The larger issue, perhaps, is what treatment options might be offered to newborns deemed to be at-risk for major disease. In Russia and China, genomic research has already led to gene-editing interventions in infants designed to alter the DNA sequencing associated with the onset of major diseases. News of these surgeries has caused global controversy, sparking calls for tighter regulations. In fact, other less invasive methods that rely on the use of pharmacogenetic medications are also available, but these are still being tested.
Genomics England has laid out its long-term implementation plan in a strategy paper published on its website titled, “Accelerating Genomic Medicine in the NHS.” It’s available on the NHS website.
“This strategy sets out how more people will be empowered to take preventative action following risk-based predictions, receive life-changing diagnoses and get the support needed to live with genomically-informed diagnoses alongside improved access to cutting-edge precision [medicine] treatments. It also outlines how the NHS will accelerate future high-quality genomic innovation that can be adopted and spread across the country, leading to positive impacts for current and future generations,” the NHS writes.