Clinical Genetics Has a Big Problem

Clinical Genetics Has a Big Problem That’s Affecting People’s Lives article tells that unreliable research can lead families to make health decisions they might regret. Many geneticists have tales where mistakes in the scientific literature have led to wrong—and sometimes harmful—diagnoses. “Reproducibility problems in clinical genetics … have massive and real-time consequences for thousands of families.”

How did things get so bad? That only became clear once geneticists acquired enough money, technological power, and collaborative will to do really big sequencing projects, like the 1,000 Genomes Project. How Data-Wranglers Are Building the Great Library of Genetic Variation article tells a huge project unexpectedly led to a way of finding disease genes without needing to know about diseases. “There’s a big swath of human genetics where people have learned that you either fail by yourself or succeed together, so they’re committed to sharing data.” It’s now starting to be very easy to cross-check any patient’s variants to see how common or rare they are – and this should be done.

DNA helix

Raising awareness of the problem is crucial, and not just among geneticists but among peer reviewers and journal editors.


  1. Tomi Engdahl says:

    Why Is So Much Reported Science Wrong

    An article from Berkeley’s California Magazine explains some of the reasons science reporting is often at odds with actual science. Quoting: “Where journalism favors neat story arcs, science progresses jerkily, with false starts and misdirections in a long, uneven path to the truth—or at least to scientific consensus. The types of stories that reporters choose to pursue can also be a problem, says Peter Aldhous, [lecturer and reporter]. ‘As journalists, we tend to gravitate to the counterintuitive, the surprising, the man-bites-dog story,’ he explains. ‘In science, that can lead us into highlighting stuff that’s less likely to be correct.’ If a finding is surprising or anomalous, in other words, there’s a good chance that it’s wrong.

    Giving Credence: Why is So Much Reported Science Wrong, and What Can Fix That?

    1998 Year in which the British medical journal The Lancet published a study suggesting a link between autism and vaccines.

    2010 Year The Lancet published a retraction of the discredited study.

    33 Percentage of American parents surveyed by The National Consumers League in 2014 who believe vaccines are linked to autism.*

    10 Factor by which retraction notices in scientific journals increased between 2000 and 2010.

    44 Percentage of retractions attributed to “misconduct,” including fabrication and plagiarism.*

    44 Percentage of health care journalists who said, in a 2009 survey, that their organization sometimes or frequently reported stories based only on news releases.*

  2. Tomi Engdahl says:

    500,000 Britons’ Genomes Will Be Public by 2020, Transforming Drug Research

    Six drug firms are paying to sequence all the DNA in the UK Biobank.

    In an effort to vault genetics into a new era of big data, six drug companies say they will decode the genes of half a million Brits and then make the data public—all by 2020.

  3. Tomi Engdahl says:

    Uh Oh—CRISPR Might Not Work in People

    A sampling of human blood has turned up a surprise: most people could be immune to one of the world’s biggest advances in genetic engineering.


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