Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium

Amanda M Gutierrez; Jill O Robinson; Simon M Outram; Hadley S Smith; Stephanie A Kraft; Katherine E Donohue; Barbara B Biesecker; Kyle B Brothers; Flavia Chen; Benyam Hailu; Lucia A Hindorff; Hannah Hoban; Rebecca L Hsu; Sara J Knight; Barbara A Koenig; Katie L Lewis; Kristen Hassmiller Lich; Julianne M O'Daniel; Sonia Okuyama; Gail E Tomlinson; Margaret Waltz; Benjamin S Wilfond; Sara L Ackerman; Mary A Majumder

doi:10.1017/cts.2021.855

Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium

J Clin Transl Sci. 2021 Sep 14;5(1):e193. doi: 10.1017/cts.2021.855. eCollection 2021.

Authors

Amanda M Gutierrez¹, Jill O Robinson¹, Simon M Outram², Hadley S Smith¹, Stephanie A Kraft^{3

4}, Katherine E Donohue⁵, Barbara B Biesecker⁶, Kyle B Brothers⁷, Flavia Chen^{2

8}, Benyam Hailu⁹, Lucia A Hindorff¹⁰, Hannah Hoban⁸, Rebecca L Hsu¹, Sara J Knight¹¹, Barbara A Koenig¹², Katie L Lewis¹³, Kristen Hassmiller Lich¹⁴, Julianne M O'Daniel¹⁵, Sonia Okuyama¹⁶, Gail E Tomlinson^{17

18}, Margaret Waltz¹⁹, Benjamin S Wilfond^{3

4}, Sara L Ackerman²⁰, Mary A Majumder¹

Affiliations

¹ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
² Program in Bioethics, University of California, San Francisco, San Francisco, CA, USA.
³ Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA, USA.
⁴ Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
⁵ Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
⁶ RTI International, GenOmics, BiOinformatics and Translational Science, Washington DC, USA.
⁷ Department of Pediatrics, University of Louisville, Louisville, KY, USA.
⁸ Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
⁹ National Institute of Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA.
¹⁰ Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
¹¹ Division of Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA.
¹² University of California, San Francisco, San Francisco, CA, USA.
¹³ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
¹⁴ Department of Health Policy and Management, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.
¹⁵ Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.
¹⁶ Division of Hematology-Oncology, Denver Health and Hospital Authority, Denver, CO, USA.
¹⁷ Division of Hematology-Oncology, Department of Pediatrics, University of Texas Health Science Center San Antonio, San Antonio, TX, USA.
¹⁸ Greehey Children's Cancer Research Institute, University of Texas Health Science Center San Antonio, San Antonio, TX, USA.
¹⁹ Department of Social Medicine, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.
²⁰ Department of Social and Behavioral Sciences, University of California, San Francisco, San Francisco, CA, USA.

Abstract

Introduction: Ensuring equitable access to health care is a widely agreed-upon goal in medicine, yet access to care is a multidimensional concept that is difficult to measure. Although frameworks exist to evaluate access to care generally, the concept of "access to genomic medicine" is largely unexplored and a clear framework for studying and addressing major dimensions is lacking.

Methods: Comprised of seven clinical genomic research projects, the Clinical Sequencing Evidence-Generating Research consortium (CSER) presented opportunities to examine access to genomic medicine across diverse contexts. CSER emphasized engaging historically underrepresented and/or underserved populations. We used descriptive analysis of CSER participant survey data and qualitative case studies to explore anticipated and encountered access barriers and interventions to address them.

Results: CSER's enrolled population was largely lower income and racially and ethnically diverse, with many Spanish-preferring individuals. In surveys, less than a fifth (18.7%) of participants reported experiencing barriers to care. However, CSER project case studies revealed a more nuanced picture that highlighted the blurred boundary between access to genomic research and clinical care. Drawing on insights from CSER, we build on an existing framework to characterize the concept and dimensions of access to genomic medicine along with associated measures and improvement strategies.

Conclusions: Our findings support adopting a broad conceptualization of access to care encompassing multiple dimensions, using mixed methods to study access issues, and investing in innovative improvement strategies. This conceptualization may inform clinical translation of other cutting-edge technologies and contribute to the promotion of equitable, effective, and efficient access to genomic medicine.

Keywords: Genomics; access to care; access to genomic medicine; genetic testing; genetics; genome sequencing; health disparities; health equity; health policy; personalized medicine; precision medicine.

Abstract

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