Consultations suggest that plans to sequence every UK newborn's genome to identify those who are at higher risk for certain conditions have received a boost.Genomics England, a government-owned genetics agency, emphasized the potential of genomics to improve health. A group of experts was convened by Genomics England to recommend a research program to sequence all the newborns' genomes.Matt Hancock, the UK's former health secretary, supported the approach in November 2019. He stated that it would give every child the best start in life and ensure they receive the best medical care from the moment they arrive in the world.Genomics England claims that discussions with the public have supported the plans.Our consultation shows that [whole genome sequencing for newborns] is very carefully done, said Prof Sir Mark Caulfield of Genomics England. He also stated that professional consultations were currently underway.All babies receive the "heel prick" or blood spot test, which is performed at five days of age. This allows them to screen for nine serious conditions such as cystic fibrosis and sickle cell disease. If these conditions are identified, they can be managed or treated.Although some genetic testing can be done before birth, it is not available in all cases. This includes following up on sickle cell results from blood spot screenings, in the event of concerns that a baby may be at risk for certain inherited diseases or very sick children who do not have a diagnosis.Proponents argue that sequencing the entire genome for all newborns and the whole genome for all babies offers greater chances to detect if babies are at increased risk for certain diseases. This could potentially open up the possibility of early intervention, such as diet changes or gene therapy.Caulfield said that there are 600 potential conditions for early intervention in life. These conditions all exist before your fifth birthday.Caulfield stated that at-risk children may be given the opportunity to participate in research into new treatments. Screening could also identify an increased risk of developing later-life conditions, such as Alzheimer's disease or cancer.Experts say that there are ethical issues surrounding such a program. It could lead to anxiety and treatment that are not necessary for certain conditions. There is also concern about the sharing of the results with children. Privacy concerns are raised as well as whether the results will be as accurate for people of different ethnic backgrounds than they are for whites.Genomics England and the UK National Screening Committee partnered with Sciencewise to conduct discussions with approximately 130 British citizens. Participants took part in four workshops and a webinar between February and March.Participants said that the findings could be supported by the public and could help to move towards a prevention-focused NHS.Participants stressed that parents and their families should be supported in dealing with the emotional and psychological effects of a diagnosis.Other issues included consent and cost as well as safeguards against marketing or insurance companies using data. Participants stressed the importance of screening all babies, but expressed concern about the possibility of discrimination. Participants also raised concerns about the sharing of information on adult-onset conditions at birth.Caulfield stated that the findings will be used to help shape a possible newborn whole genome sequencing program.He said that the public supports a newborn program that focuses on conditions in which early intervention could reduce disability or prevent harm in early life. The impact on the NHS is also a key consideration.He stated that the primary purpose of a pilot is to determine whether early detection of disease, where there is clear intervention before the fifth year, is safe, effective, and possible in the NHS. However, while there is public support for a platform for new therapies, this is more difficult and will take time.David Curtis is an honorary professor at University College London's Genetics Institute. He stated that while important issues were raised during the public consultation, there were misconceptions about the benefits to knowing about increased risk and other factors around security.Curtis stated that babies shouldn't be tested for health conditions, despite the support of the public consultation. He also said there had been some hype about the potential benefits of whole genome screening and genetic approaches.He said that 600 conditions could be tested for but I was skeptical. It is likely that it is rare to find useful and actionable results.
