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Bias against genetic case reports might compromise medicine

Nature Medicine volume 21, page 1378 (2015)Cite this article

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In February 2013, a 34-year-old Pakistani man went to see a rheumatologist at the Brigham and Women's Hospital in Boston. At age five, he had been diagnosed with juvenile rheumatoid arthritis—the most common form of arthritis seen in children. Damage to his joints persisted, and in his twenties, it became so severe that he underwent a series of operations: a double hip replacement, a double knee replacement and spinal surgery. Yet the joint pain and movement problems did not go away.

His rheumatologist ordered a series of tests—and surprisingly, they all came back negative for rheumatoid arthritis. So the rheumatologist took the case to a team of clinical geneticists. Clues from his family history suggested that his condition might be genetic. After sequencing the man's DNA, the doctors diagnosed him with progressive pseudorheumatoid arthropathy of childhood (PPAC), a rare condition that affects approximately one in a million individuals. It is caused by mutations in the WISP3 gene, which encodes a protein involved in bone growth and the maintenance of cartilage.

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Change history

  • 06 January 2016

    In the December 2015 issue, the piece "Bias against genetic case reports might compromise medicine" (Nat. Med. 21, 1378, 2015) incorrectly described the relationship between ClinVar and ClinGen. ClinVar is maintained by staff at the US National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH) and is supported with intramural funding. In contrast, ClinGen comprises many groups and is funded by grants from the National Human Genome Research Institute. The error has been corrected in the HTML and PDF versions of this article.

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  1. Wudan Yan
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Yan, W. Bias against genetic case reports might compromise medicine. Nat Med 21, 1378 (2015). https://doi.org/10.1038/nm1215-1378

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