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In a study, Stephen Kingsmore at the National Center for Genome Resources in Santa Fe found that a quarter of mutations that have been linked to childhood genetic diseases are debatable. In some cases, the claims were based on papers that contained extremely weak evidence. In other cases, the claims were plain wrong: The mutations turned out to be common, like the one in Rehm’s anecdote, and couldn’t possibly cause rare diseases.
Daniel MacArthur at Massachusetts General Hospital found a similar trend in a study of over 60,000 people, the results of which have been uploaded to a pre-print server. On average, each of these volunteers is walking around with 53 gene variants that are classified as “pathogenic” in two widely-used databases. When the team took a closer look at 200 of these variants, they found enough evidence to classify just nine of them as pathogenic.
This is an absurd situation, especially given the stakes. Over the last decade, there’s been a lot of talk about reproducibility problems in science — about published results that turn out to be false alarms. In fields like psychology, neuroscience, and cell biology, these errors can send scientists down unproductive paths, waste time and money, and pollute headlines with misleading claims. “But I get much more exercised about reproducibility problems in clinical genetics, because those have massive and real-time consequences for thousands of families,” says MacArthur.
Read full, original post: Clinical Genetics Has a Big Problem That’s Affecting People’s Lives
