In November 2019, Matt Hancock, then the United Kingdom’s health secretary, unveiled a lofty ambition: to sequence the genome of every baby in the country. It would usher in a “genomic revolution,” he said, with the future being “predictive, preventative, personalized health care.”
Hancock’s dreams are finally coming to pass. In October, the government announced that Genomics England, a government-owned company, would receive funding to run a research pilot in the UK that aims to sequence the genomes of between 100,000 and 200,000 babies. Dubbed the Newborn Genomes Programme, the plan will be embedded within the UK’s National Health Service and will specifically look for “actionable” genetic conditions—meaning those for which there are existing treatments or interventions—and which manifest in early life, such as pyridoxine-dependent epilepsy and congenital adrenal hyperplasia.
It will be at least 18 months before recruitment for participants starts, says Simon Wilde, engagement director at Genomics England. The program won’t reach Hancock’s goal of including “every” baby; during the pilot phase, parents will be recruited to join. The results will be fed back to the parents “as soon as possible,” says Wilde. “For many of the rare diseases we will be looking for, the earlier you can intervene with a treatment or therapy, the better the longer-term outcomes for the child are.”
The babies’ genomes will also be de-identified and added to the UK’s National Genomic Research Library, where the data can be mined by researchers and commercial health companies to study, with the goal of developing new treatments and diagnostics. The aims of the research pilot, according to Genomics England, are to expand the number of rare genetic diseases screened for in early life to enable research into new therapies, and to explore the potential of having a person’s genome be part of their medical record that can be used at later stages of life.
Whole genome sequencing, the mapping of the 3 billion base pairs that make up your genetic code, can return illuminating insights into your health. By comparing a genome to a reference database, scientists can identify gene variants, some of which are associated with certain diseases. As the cost of whole genome sequencing has taken a nosedive (it now costs just a few hundred bucks and can return results within the day), its promises to revolutionize health care have become all the more enticing—and ethically murky. Unraveling a bounty of genetic knowledge from millions of people requires keeping it safe from abuse. But advocates have argued that sequencing the genomes of newborns could help diagnose rare diseases earlier, improve health later in life, and further the field of genetics as a whole.
Back in 2019, Hancock’s words left a bad taste in Josephine Johnston’s mouth. “It sounded ridiculous, the way he said it,” says Johnston, director of research at the Hastings Center, a bioethics research institute in New York, and a visiting researcher at the University of Otago in New Zealand. “It had this other agenda, which isn't a health-based agenda—it's an agenda of being perceived to be technologically advanced, and therefore winning some kind of race.”
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Newborns are already screened for certain diseases at birth. A simple blood test that would prove life-saving was introduced in the early 1960s: a tiny prick on the heel of an infant, known as the heel prick test. Still used today, testing these few droplets of blood can reveal whether a baby has disorders such as cystic fibrosis or sickle cell anemia, for which early detection and treatment can prevent serious disability and death. In the UK, the test screens for just nine conditions; in the US the number ranges between 30 and 50. Whole genome sequencing may mean that the list of detectable conditions could expand into the hundreds.
And society could welcome increased screening: In July, Genomics England revealed the findings of a consultation it held with the British public to gauge attitudes toward such a program. The dialogue showed that the scheme would have widespread public support—provided certain safeguards were ensured, such as screening only for conditions that affect newborns early in life and for which interventions exist.
Done wrong, it could present an ethical minefield. “Genetics is just turning out to be much more complicated than we had imagined,” says Barbara Koenig, the director emeritus of the University of California San Francisco Bioethics Program. A genetic readout returns a colossal pile of raw data—much of which we don’t yet understand. And some gene variants can be detected, but an individual carrying them may never actually get sick. For instance, Koenig says, you might carry a genetic variant that is associated with a certain condition but carry another undetected gene that compensates for it, so you never develop the condition.
Genetic testing could help shorten what doctors call the “diagnostic odyssey,” in which parents trail from appointment to appointment as their sick child receives batteries of tests. But it could also create problems for other families. Diagnostic screening may create a whole new category of “patients-in-waiting,” or children whose genes indicate they have a likelihood of developing a disease but are not displaying any symptoms. They could get stuck not knowing whether they’re sick or healthy.
Telling parents that their newborn will develop a life-limiting disease can create health anxiety—when screening for the inherited disorder phenylketonuria, or PKU, was introduced, another new diagnosis followed closely behind: “PKU anxiety syndrome.” Plus, ethicists have argued such results have the potential to disrupt parent-to-child bonding in those early, formative weeks. (One source of reassurance can be found in the case of BabySeq, a randomized clinical trial funded by the National Institutes of Health in the United States that aimed to explore the use of genomic sequencing in newborns. The researchers did not find meaningful differences in family impact over time between the study arm and the control arm, even if the families had learned that their child was at risk of developing a certain disease.)
Still, some parents would simply rather not know. And others have argued this kind of screening irreversibly takes away the child’s “open future,” or their right to not know about their genomic makeup. The knowledge might be a burden they’d be better off without.
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Genomics England has said the research pilot will not screen for conditions that manifest in later life, or for which there is no treatment. “That already gets rid of a lot of the kinds of genetic markers that raise really significant ethical concerns,” says Johnston. For diseases that don’t yet have a treatment, it’s hard to argue the benefit of informing the patient when there’s nothing that can be done for them. Research has shown that many people at familial risk for adult-onset conditions such as Huntington’s disease and breast cancer often decide not to get tested for them when they have the choice, Johnston has argued, so shouldn’t newborns be afforded the same autonomy?
Johnston also raises a financial issue: Can the UK's pandemic-stricken health system even afford to shell out for such a scheme? “How does it stack up in terms of value compared to other things that the NHS could be spending its money on?” asks Johnston. Even though the cost of running the test is now relatively inexpensive, the whole genome sequencing process may not be. The data must be analyzed and interpreted, and the patients may require interventions based on the results, alongside extensive genetic counseling to guide the parents. “Even if the technology is cheaper, interpreting and communicating and dealing with the results, it's going to be more expensive,” she says. And genome sequencing might not be the most appropriate way of testing for certain diseases: Some conditions, such as PKU, can already be accurately diagnosed using non-genetic tests.
It will be crucial to ensure that the technology benefits everyone and avoids exacerbating existing inequalities. Certain ethnic groups remain underrepresented in the reference databases of genomic variation that guide interpretation and are overwhelmingly made up of European ancestry. For some populations, such as Black and Hispanic groups, whole genome sequencing is more likely to detect what’s called a “variant of unknown significance,” which refers to gene variants that scientists think might be associated with a disease or disorder, but without enough evidence to be sure. These populations may end up burdened by the anxiety of an inconclusive result, where a white peer is afforded a definitive result. “That means that the ability for something like this to deliver benefits to all people equally is therefore already compromised from the get-go,” says Johnston. On the other hand, she says, the only way to improve those reference databases is to recruit more diverse people. “So it's like a Catch-22.”
And then there’s the issue of how the data will be stored. Genomics England says the data will be de-identified, meaning the identity linked to each data point will be scrubbed, but that may not be as reassuring as it sounds. “De-identification is just a fiction,” says Koenig; a data point can be easily re-identified with little information. The most important part will be how the data is later used, she says, such as whether it could affect a participant’s ability to get life insurance.
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But there is still time to work through these big, thorny questions, says Wilde: “We are keen to stress that there is a huge amount of work we need to do, working with the public and other expert stakeholders, to design the pilot.”
The details of the plan thus far make Johnston less skeptical than she was when it was announced two years ago. “It seems like a really good way to assess whether or not sequencing can help the UK expand its newborn screening program to include more conditions that meet the screening criteria—that seems like a laudable goal to me.” But, she says, “that’s really different from the promises of ‘this will enable a lifetime of personalized medicine.’” DNA testing might reveal a person’s risk of developing a disease, but it’s no crystal ball.
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