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