In one 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.
Of course, people have gotten their kids aborted in the meantime … on the other hand, does that matter these days ?
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.
These problems are understandable in a historical light, but they are still around today. Just last year, one paper linked to a severe recessive genetic disease to a variant that’s carried by 70 percent of the people in large genetics databases. “That’s just egregiously wrong,” says MacArthur. “There’s absolutely no excuse.” More.
What’s not being discussed is that, because unborn children today are technically medical waste once they are slotted for “termination,” it doesn’t really matter much. The main thing for the practitioner is not to get sued for failing to offer the “medical waste” option.
Apparently, there is a lot of wrong stuff in medical journals, that can’t be got out, and of course there are the usual pleas for reproducibility.
But typically, things don’t change unless someone’s death actually matters. In the meantime, we should be cautious about anything we hear from this field.
See also: Replication as key science reform?