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ORIGINAL RESEARCH article

Front. Genet.
Sec. ELSI in Science and Genetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1462831

Awareness, use, motivations and methods of accessing genetic testing in 2022 in the United States

Provisionally accepted
Sukh Makhnoon Sukh Makhnoon 1*MinJae Lee MinJae Lee 1Tanushree Prasad Tanushree Prasad 1Alexa Badalamenti Alexa Badalamenti 1Tami Gurley Tami Gurley 1Erika A. Waters Erika A. Waters 2Celette S. Skinner Celette S. Skinner 1
  • 1 University of Texas Southwestern Medical Center, Dallas, United States
  • 2 Washington University in St. Louis, St. Louis, Missouri, United States

The final, formatted version of the article will be published soon.

    Introduction: Awareness, access, and use of clinical and direct-to-consumer (DTC) genetic tests has increased in recent years with documented disparities in these services. We provide updated data on test awareness and use, and report novel data on motivations and methods for accessing genetic tests.Methods: Nationally representative data from the 2022 Health Information National Trends Survey (HINTS 6) were used to assess awareness and use of ancestry, personal trait, specific disease, and carrier testing by sociodemographic characteristics, examine reasons for undergoing tests, and methods of accessing them.Results: Overall, 81.4% of respondents were aware and 40.0% had undergone testing. Only 10% of tests were ordered by genetic counselors, 80% of carrier and 65% of specific disease tests were ordered by other healthcare providers. Understanding family history was the most common reason for undergoing ancestry (72.2%) or personal trait tests (64.9%) whereas reasons such as doctor's recommendation (53%-59%), learning more about disease risk (18%-50%), and carrier testing (76%) were common for undergoing disease risk tests and carrier tests. In contrast to ancestry, personal trait, and carrier testing, there were no racial, ethnic, income, or rural/urban difference in use of specific disease risk testing.Discussion: Diffusion of genetic tests into US society, although incremental, has made sizable increases in awareness, equitable use of specific disease tests but worsening socioeconomic inequality in DTC genetic test use. The study provides update on the state of genetic testing in the US and identifies groups that may need help accessing clinical genomic information and services.

    Keywords: Genetic Testing, Prevalence, direct-to-consumer, Awareness, use

    Received: 10 Jul 2024; Accepted: 25 Oct 2024.

    Copyright: © 2024 Makhnoon, Lee, Prasad, Badalamenti, Gurley, Waters and Skinner. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Sukh Makhnoon, University of Texas Southwestern Medical Center, Dallas, United States

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.