Clinical Variant Reclassification in Hereditary Disease Genetic Testing
Yuya Kobayashi, Elaine Chen, Flavia M. Facio, Hillery Metz, Sarah R. Poll, Dan Swartzlander, Britt Johnson, Swaroop Aradhya · 2024
Read Clinical Variant Reclassification in Hereditary Disease Genetic Testing by Yuya Kobayashi, Elaine Chen, Flavia M. Facio, Hillery Metz, Sarah R. Poll, Dan Swartzlander, Britt Johnson, Swaroop Aradhya (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11541632.txt.
Description
Yuya Kobayashi and co-authors track how gene test verdicts change over time in a 2024 study. Clinics sort DNA variants into five classes, from benign to disease-causing, and those calls guide care. Wrong or stale calls can mislead patients and doctors alike.
Data covered more than three million people tested from 2015 to 2023 and over two million variants. About five percent of variants were later reclassified, most often moving from uncertain to a firm class. The study maps what proof drove the changes and how they varied by clinical area and ancestry group. The results aim to sharpen testing methods and fair access to updated calls.
Catalog record
| CREATOR | Yuya Kobayashi, Elaine Chen, Flavia M. Facio, Hillery Metz, Sarah R. Poll, Dan Swartzlander, Britt Johnson, Swaroop Aradhya |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 30 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |