100,000 newborn babies will have their genomes sequenced in the UK. It could have big implications for child medicine
[CNN] The UK is set to begin sequencing the genomes of 100,000 newborn babies later this year. It will be the largest study of its kind, mapping the babies’ complete set of genetic instructions, with potentially profound implications for child medicine.
The £105 million ($126 million) Newborn Genomes Programme will screen for around 200 rare but treatable genetic conditions, with the aim of curtailing untold pain and anxiety for babies and their families, who sometimes struggle to receive a diagnosis through conventional testing. By accelerating the diagnostic process, earlier treatment of infants could prevent many severe conditions from ever developing.
The study would see roughly one in 12 newborn babies in England screened on a voluntary basis over two years. It will operate as an extension of current newborn testing, with the findings intended to inform policymakers, who could pave the way for sequencing to become more commonplace.
Nevertheless, the project has raised many longstanding ethical questions around genetics, consent, data privacy, and priorities within infant healthcare.
... One example is congenital hyperthyroidism, which impacts neurological development and growth and affects “one in 1,500 to 2,000 babies in the UK,” explains Krishna Chatterjee, professor of endocrinology at the University of Cambridge. It is the result of an absent or under-developed thyroid gland and can be treated with the hormone thyroxine, a cheap and routine medicine. But if treatment doesn’t begin “within the first six months of life, some of those deleterious neurodevelopmental consequences cannot be prevented or reversed.”
The Newborn Genomes Programme will test for one or more forms of congenital hypothyroidism that are not picked up by the heel prick test. “At a stroke, you can make a diagnosis, and that can be game changing – or life changing – for that child,” Chatterjee says.
... The program is led by Genomics England, part of the UK Department of Health and Social Care. Along with its partners, it has carried out a variety of preparatory studies, including a large-scale public consultation. A feasibility study is currently underway to assess whether a heel prick, cheek swab or umbilical cord blood will be used for sampling, with the quality of the DNA sample determining the final choice.
Genomics England says that each of the 200 conditions that will be screened for has been selected because there is evidence it is caused by genetic variants; it has a debilitating effect; early or pre-symptomatic treatment has a life-improving impact; and treatment is available for all through the UK’s National Health Service (NHS).
Richard Scott, chief medical officer and deputy CEO at Genomics England, says the program aims to return screening results to families in two weeks, and estimates at least one in 200 babies will receive a diagnosis.
... Bentley argues that early diagnosis via genome sequencing is cost effective in the long term: “People get sick, they get tested using one test after another, and that cost mounts up. (Sequencing) the genome is much cheaper than a diagnostic odyssey.”
[ETHICS AND CONCERNS:]
... But while some barriers to genetic screening have fallen, many societal factors are still in play.
Feedback from a public consultation ahead of the UK project’s launch was generally positive, although some participants voiced concerns that religious views could affect uptake, and a few expressed skepticism and mistrust about current scientific developments in healthcare, according to a report on its findings.
Frances Flinter, emeritus professor of clinical genetics and Guy’s and St Thomas’ NHS Foundation Trust and a member of the Nuffield Council on Bioethics, described the program as a “step into the unknown” in a statement to Science Media Centre in December 2022, reacting to the launch of the program.
“We must not race to use this technology before both the science and ethics are ready,” she said at the time. “This research program could provide new and important evidence on both. We just hope the question of whether we should be doing this at all is still open.”
Genome sequencing has raised many philosophical and ethical questions. If you could have aspects of your medical future laid ahead of you, would you want that? What if you were predisposed to an incurable disease? Could that knowledge alone impact your quality of life?
“People don’t generally understand deterministic or fatalistic-type results versus probabilistic, so it does require real teaching of participants,” says Topol. In other words, just because someone has a genetic predisposition to a certain condition, it doesn’t guarantee that they will develop the disease.
Nevertheless, sequencing newborn babies has made some of those questions more acute.
“One of the tenets of genomics and genomics testing is the importance of maintaining people’s autonomy to make their own decisions,” says Scott, highlighting the optional nature of the program.
“We’ve been quite cautious,” he stresses. “All of the conditions that we’re looking for are ones where we think we can make a really substantial impact on those children’s lives.”
... Part of Pichini’s remit is to ensure equal access to the program and to produce representative data. While diversity comes in many forms, she says – including economic background and rural versus urban location – enlisting ethnically diverse participants is one objective.
“(There) has been a lack of data from other ethnic groups around the world, compared to Caucasians,” says Bentley. “As a result, the diagnostic rates for people from those backgrounds is lower. There are more variants from those backgrounds that we don’t know anything about – we can’t interpret them.”
If genomics is to serve humanity equally, genome data needs to reflect all of it. Data diversity “isn’t an issue that any one country can solve,” says Pichini. ...
https://us.cnn.com/2023/03/19/health...ntl/index.html