In November 2019, Matt Hancock, then Secretary of Health for the United Kingdom, unveiled a higher ambitionSequencing the genome of each child in the country. It would usher in a “genomic revolution,” he said, with a future of “predictive, preventive, personalized health care.”
Hancock’s dreams are finally coming true. government in October announced that Genomics England, a state-owned company, will receive funding to run a research pilot in the UK that aims to sequence the genomes of between 100,000 and 200,000 infants. Dubbed the Neonatal Genome Programme, the scheme 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 may develop in early life. such as pyridoxine-dependent epilepsy and congenital adrenal hyperplasia.
Simon Wilde, engagement director for Genomics England, says it will take at least 18 months for participants to start recruiting. The program will not reach Hancock’s goal of covering “every” child; 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 rare diseases we will discover, the sooner you can intervene with treatment or therapy, the better the long-term outcome for the child.”
The babies’ genomes will also be de-identified and added to the UK’s National Genomic Research Library, where the data can be studied by researchers and commercial health companies with the goal of developing new treatments and diagnostics. The purpose of the research pilot, according to Genomics England, is to expand the number of rare genetic diseases screened for in early life to enable research into new treatments, and the ability to make a person’s genome part of their medical record. have to find out. Can be used in later stages of life.
Whole genome sequencing, the mapping of the 3 billion base pairs that make up your genetic code, can provide informative insights about 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 plummeted (it now costs only a few hundred bucks and can return results within days), its promises to revolutionize health care have become all the more tempting and ethically questionable. Unleashing the abundance of genetic knowledge from millions of people is needed to keep it safe from misuse. But advocates have argued that sequencing the genome of newborn babies earlier could help diagnose rare diseases, improve health later in life, and advance the field of genetics as a whole. Is.
Back in 2019, Hancock’s words left a bad taste in Josephine Johnson’s mouth. “It sounded ridiculous, the way he said it,” says Johnston, director of research at the Hastings Center, the Bioethics Research Institute in New York, and a visiting researcher at the University of Otago in New Zealand. “It had this second agenda, which is not a health-based agenda – it’s an agenda to be considered technologically advanced, and therefore to win some kind of race.”
Newborn babies are already screened for certain diseases at birth. A simple blood test that would prove to be life-saving was introduced in the early 1960s: a small prick on an infant’s heel, known as the heel prick test. Still used today, these few drops of blood test can reveal whether a child has disorders such as cystic fibrosis or sickle cell anemia, for which early detection and treatment can prevent severe disability and death. In the UK, the test only screens for nine conditions; In the US, this number is between 30 and 50. Whole genome sequencing could mean that the list of detectable conditions could expand into the hundreds.
And society may welcome increased screening: in July, Genomics England findings revealed Organized a consultation with the British public to assess attitudes towards such a program. The dialogue revealed that the plan would receive 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 can present a moral minefield. “Genetics is getting more complex right now than we imagined,” says Barbara Koenig, emeritus director of the University of California San Francisco Bioethics Program. The genetic readout returns a huge pile of raw data—most of which we still don’t understand. And some gene variants can be traced, but the person carrying them may never actually get sick. For example, says Koenig, you may have a genetic variant that is linked to a certain condition, but have another undetermined gene that compensates for it, so you never develop the condition.
Genetic testing can help doctors follow what doctors call a “diagnostic odyssey,” in which parents follow from appointment to appointment as their sick child receives a battery of tests. But it can also cause problems for other families. Diagnostic screening “could create a whole new category of”waiting patientOr children whose genes indicate they are likely to develop the disease but are showing no symptoms. They don’t know whether they are sick or healthy, they can get trapped.
Telling parents that their newborn will develop a life-limiting disease can create health concerns – another new diagnosis far behind when screening for the inherited disorder phenylketonuria, or PKU, was introduced. Was: “PKU Anxiety SyndromeIn addition, ethicists have argued Such consequences have the potential to disrupt the parent-to-child relationship in those early, early weeks. (A source of assurance can be found in the case) babysake, a randomized clinical trial funded by the National Institutes of Health in the United States that aims to explore the use of genomic sequencing in neonates. researcher No significant difference found Familial effects varied over time between the study arm and the control arm, even if families became aware that their child was at risk of developing a certain disease.)
Still, some parents simply may not know. And others have argued that such screening will irreversibly kill the child.open futureOr their right not to know about their genomic makeup. Knowledge can be a burden without which they would be better off.
Genomics England has said the research pilot will not investigate conditions that appear in later life, or for which there is no cure. “It already gets rid of a variety of genetic markers that raise really important ethical concerns,” Johnson says. For diseases that do not yet have a cure, it is difficult to argue the benefit of informing the patient when nothing can be done for them. Research has shown that many people have a familial risk for adult-onset conditions such as: Huntington’s disease And Breast Cancer When they have the option, often deciding not to test for them, Johnson have arguedSo shouldn’t newborns be given the same autonomy?
Johnson also raises a financial issue: can Britain’s pandemic-stricken health system even afford such a plan? “How does it stack up in terms of value compared to other things the NHS can spend its money on?” Johnson asks. Even though the cost of running the test is now relatively cheap, the whole genome sequencing process may not be. Data must be analyzed and interpreted, and interventions based on results may be needed, along with extensive genetic counseling to guide parents to patients. “Even if the technology is cheap, interpreting and communicating and dealing with results, it’s going to be more expensive,” she says. And genome sequencing may not be the most appropriate way to test for certain diseases: Some conditions, such as PKU, can already be accurately diagnosed using non-genetic tests.
It will be important to ensure that technology benefits all and prevent existing inequalities from growing. Some ethnic groups are underrepresented in reference databases for genomic variation that guide interpretation and are Heavily composed of European ancestry, For some populations, such as Black and Hispanic groups, whole genome sequencing is more likely to be detected called “types of unknown significance”, which refers to gene variants that scientists think Courage Be associated with a disease or disorder, but without sufficient evidence to be sure. These populations can be burdened by the concern of an inconclusive outcome, where a white peer is given a certain outcome. “This means that the ability to benefit all people equally in this way is therefore already compromised from the get-go,” Johnson says. 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 is the issue of how the data will be stored. Genomics England says the data will be de-identified, meaning the identity associated with each data point will be cleared, but this may not be as reassuring as it sounds. “De-identification is just a fantasy,” says Koenig; A data point can be easily re-identified with less information. She says the most important part will be how the data is used later, such as whether it could affect a participant’s ability to obtain life insurance.