Needles, Haystacks, and Next-Generation Genetic Sequencing

Brown, Teneille R.

Journal: Health Matrix: The Journal of Law-Medicine

Volume: 28

First Page: 217

Year: 2018

Bluebook Citation: 28 HEALTH MATRIX 217 (2018)

Author: Teneille Ruth Brown: all 18 publications


Abstract

Genetic testing is becoming more frequent and the results more complex. Not infrequently, genetic testing conducted for one purpose reveals information about other features of the genome that may be of clinical significance. These unintended findings have been referred to as "incidental" or "secondary" findings. In 2013, the American College of Medical Genetics ("ACMG") recommended that clinical laboratories inform people if their genetic analyses indicate that they have certain secondary mutations.

These mutations were selected because they probably cause a serious disease, which is treatable, and may go undetected. The ACMG's recommendations galvanized critical responses by the genetics and ethics community.

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