Stoll and others in the genetics field who share similar concerns are one reason the BabySeq project was first funded back in 2015. Without a sure link between the two, this information could unnecessarily entail “some pretty big emotional and financial costs.” “It’s more complicated than just looking at one gene variant and one outcome,” she says. This potential disconnect between having a variant and developing the condition is a big problem, says Katie Stoll, a genetic counselor and executive director of the Genetic Support Foundation in Olympia, WA. In other cases, though, even if the gene variant contributes to a disease, not everyone who carries the genetic change will get the condition. In some cases, a variant that is mathematically linked to a disease simply doesn’t cause it. Scientists began to note that many people carried disease-related genetic variants without having signs of disease. Genetic testing is on the upswing for both purposes, whether clinically for diagnosis or through direct-to-consumer screening-oriented services like 23andMe. Both approaches use sequencing, but they answer different questions, explains Downie.ĭiagnosing Disease vs. She calls the difference subtle but important.ĭiagnostic genetic testing confirms whether a person has a specific condition, whereas genetic screening tests evaluate someone’s risk of getting an illness. Yet even as technologies advanced, clinical genetics remained focused on diagnosis rather than screening, according to Lilian Downie, a clinical genetics PhD candidate at the University of Melbourne in Australia. Knowing our genome sequence was expected to lead to a better grasp on our individual disease risks. When a first-draft copy of the human genome was published in 2001, scientists and doctors hailed the start of a new era of precision medicine. “But it is becoming apparent that that’s not really the case,” he says, and “maybe there’s not a whole lot special about genetics - it’s just medicine.” Geneticists have been accused of thinking their field involves unique pitfalls, compared with the rest of medicine, he points out, and that doctors need to protect patients and families from the potential harm genetic testing poses. project is a bold move, according to David Amor, PhD, a pediatric geneticist at Murdoch Children’s Research Institute in Australia, who says its time has come. The first goal is to identify severe disease that starts in childhood, but the information would also be stored and used to detect drug sensitivities and conditions that come up later in life.
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In the meantime, Genomics England announced it would begin a pilot study involving whole-genome sequencing of up to 200,000 babies.
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“And it’s not an unreasonable speculation.”īut Green’s team found no evidence of such anxiety in the results from a randomized trial it conducted, published in JAMA Pediatrics. The concern is that parents learning that their child carries a gene variant related to cancer or heart disease will become “incredibly anxious and distressed,” he says.
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“There’s a narrative of catastrophic distress,” says Robert Green, MD, a geneticist at Harvard Medical School and lead investigator on the BabySeq study, which is evaluating the medical, social, and economic consequences of newborn genetic screening.