Clinical genetics mistakes don’t matter when lives don’t

From Atlantic:

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?

  • ontario john

    In the socialist West, only left wing agendas are important. Killing babies, getting rid of old people, assisting teen suicides, its all the new normal. And of course the Christian faith must be attacked. Islam is great with the media, entertainment and political elites because it wants to destroy the values the West once held.

  • Abortion is a vicious circle. The proper thing to do with the unborn is some sort of burial, or at least cremation and scattering of ashes. But then that would require abortionists recognizing some sort of human identity associated with the unborn, and the rest of us required to recognize that abortion is justified in the first place. And we’re back to square one. It’s a vicious circle — ethically untenable.

    The only “workable moral compromise” I’ve been able to come up with is that abortion should not be funded with taxpayer dollars — if you want an abortion then fine, you pay for it (or find a private funding). At least it doesn’t require every Canadian citizen to share collective responsibility for your personal choice to kill the unborn.

    • p.s. and the remains of the unborn should still be treated with human dignity. (But you know what? I find myself feeling sick to my stomach even searching for a “workable moral compromise”).

    • Alain

      In full agreement that it should not be funded by tax payers unless it is truly required to save the life of the mother or perhaps a rape victim. These two remain extremely rare.

      • C. Everett Koop (former U.S. Surgeon General) and Francis A. Schaeffer, recognized those reasonable, compassionate and medically valid (albeit rare) exceptions in “WHATEVER HAPPENED TO THE HUMAN RACE?” (1983). 33 years ago nobody listened, and as these professionals accurately predicted abortion on demand would lead to euthanasia. Abortionists 33 years ago said, “you’re nuts, euthanasia will NEVER happen”.

        Just as the militant Gay movement back in the day (borne out of the AIDS epidemic and false victimology) said, “you’re nuts, Gays are NOT interested in marriage, adoption, or teaching homosexuality to children”.

        So who turned out to be telling the truth? The Politicians who supported those lies and lied to the electorate should be stripped of their public pensions (if they are still alive and not currently burning in the fires of hell).

  • Waffle

    GIGO — as we move further and further into digital data, it is inevitable that errors in input are going to be compounded. How much input is actually checked for veracity? Hell, many news orgs no longer have copy editors or fact checkers. And who designs spread sheets that double check for the correctness of numerical information? How many times have you been told by some semi-literate clerk that computers don’t make mistakes?

    For myself, I know that my address information in the SIMS data base used by Elections Canada is wrong and I also know that info in my digital health record is also wrong. But try to get these corrected? HAHAHAHA!! You’ve got to be kidding. I guess these mistakes fall into the category of “acceptable risk” when plotted on the Bell curve.

    We are all just statistics

  • Exile1981

    Most of the new studies seem to endorse eugenics as acceptable.

    • Alain

      No surprise since it is just part of the agenda.

    • Minicapt

      Unfortunately, the researchers are uncooperative.