Document Type
Article
Publication Title
Journal of Law, Medicine, and Ethics
Publication Date
Spring 2020
ISSN
1748-720X
Page Number
44
Keywords
genomic analysis, clinical care, accurate test results
Disciplines
Health Law and Policy | Law
Abstract
Delivering high quality care to patients depends on having accurate test results whose clinical implications are understood. While these requirements apply throughout medicine, the question of how best to ensure the quality of genetic tests used in clinical care, in particular, has vexed scientists and regulators alike for roughly two decades. Numerous federal advisory committees, expert scientific bodies, and professional societies have weighed in on the issue, proposed a variety of approaches, and identified a number of governmental and non-governmental entities to regulate the quality of single-gene tests. Over time, the understanding and clinical use of genetic tests have increased dramatically, but challenges in ensuring patients get accurate results whose clinical impact is understood are not yet solved. One need only look at discrepant results from different laboratories and the number of variants of uncertain significance to see the enormity of the current challenges.
As difficult as the issues attending single-gene tests are, genomic tests — which make possible the examination of multiple variants across one genome that can be analyzed individually or in combination to inform patient care — present a whole new level of complexity. An ongoing challenge for genomic tests, including those using next-generation or genome sequencing technology (NGS), is determining when the results of such testing are of sufficient quality to inform clinical decision-making. Indeed, simply gaining consensus on the meaning and appropriate parameters of “quality” in this context — let alone on which entities should be responsible for serving as quality gatekeepers — is difficult.
Recommended Citation
Ellen W. Clayton; Barbara J. Evans; Gail Javitt; Ralph Hull, Professor, University of Minnesota Law School; Megan Robertson; Pilar Ossorio; Susan M. Wolf; and Thomas Morgan,
How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?, 48 Journal of Law, Medicine, and Ethics. 44
(2020)
Available at: https://scholarship.law.vanderbilt.edu/faculty-publications/1609
