Guidelines for Finding Genetic Variants Underlying Human Disease
By Daniel MacArthur and Chris Gunter,
Genomes Unzipped
| 04. 24. 2014
New DNA sequencing technologies are rapidly transforming the diagnosis of rare genetic diseases, but they also carry a risk: by allowing us to see all of the hundreds of “interesting-looking” variants in a patient’s genome, they make it potentially easy for researchers to spin a causal narrative around genetic changes that have nothing to do with disease status. Such false positive reports can have serious consequences: incorrect diagnoses, unnecessary or ineffective treatment, and reproductive decisions (such as embryo termination) based on spurious test results. In order to minimize such outcomes the field needs to decide on clear statistical guidelines for deciding whether or not a variant is truly causally linked with disease.
In a paper in Nature this week we report the consensus statement from a workshop sponsored by the National Human Genome Research Institute, on establishing guidelines for assessing the evidence for variant causality. We argue for a careful two-stage approach to assessing evidence, taking into account the overall support for a causal role of the affected gene in the disease phenotype, followed by an assessment of the probability...
Related Articles
By Jason Kehe, Wired | 04.11.2024
God help the babies! Or, absent God, a fertility startup called Orchid. It offers prospective parents a fantastical choice: Have a regular baby or have an Orchid baby. A regular baby might grow up and get cancer. Or be born...
By Neel Shah, The PrePrint | 04.11.2024
Years ago, I interviewed for a residency position at The Johns Hopkins Hospital in Baltimore. Standing before the domed Victorian building at the campus entrance, I couldn’t help but be in awe of the history of the place, the great...
By Judith Levine, The Intercept | 04.04.2024
WHEN THE ALABAMA Supreme Court ruled that fertilized embryos were “extrauterine children,” it did more than imperil the future of in vitro fertilization in Alabama and, potentially, the U.S. The ruling, on the claimed “wrongful death” of frozen embryos...
By Emily Cochrane, The New York Times | 04.03.2024
A Mobile, Ala., hospital at the center of a State Supreme Court ruling that found that frozen embryos could be considered children said on Wednesday that it would no longer provide in vitro fertilization lab services after this year.
In...