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

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

doi:10.1017/cts.2021.855

Cited by 26 publications

(25 citation statements)

References 76 publications

(141 reference statements)

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“…Scientific and societal contributors to this disparity include lack of baseline knowledge of DNA sequence variation in minorities within public databases, lack of genetic professionals in underserved minority communities, financial limitations, distance from tertiary care centers, limited awareness regarding genetic testing options, and language barriers. Focused efforts are in progress to expand the reach of genetic services 40 and will need to be continued to underserved populations including US Hispanic populations to gain additional knowledge of genomic landscapes and ultimately diminish the currently observed genomic disparity.…”

Section: Discussionmentioning

confidence: 99%

Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas

Soewito

Wyatt

Berenson

et al. 2022

JCO Oncology Practice

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PURPOSE: Racial and ethnic disparities have included a lack of access to both genetic testing and research, resulting in poor understanding of the genomic architecture in under-represented populations. The South Texas population is primarily of Hispanic background and has been largely devoid of genetic services. We extended access to this underserved population and uncovered genetic variants previously not observed, emphasizing the need to continually improve both genomic databases and clarification of variant significance to provide meaningful patient counseling. METHODS: This study consisted of a retrospective cohort review of patients seen through a cancer genetics education and service program across 24 counties in South Texas. In total, 1,595 individuals were identified as appropriate for cancer genetic counseling and 1,377 completed genetic testing. RESULTS: Eighty percent of those receiving genetic counseling self-identified as Hispanic, 16% as non-Hispanic White (NHW), 3% as African American, and 1% as other race/ethnicity. Of reported variants, 18.8% were pathogenic and 13.7% were reported as a variant of uncertain significance (VUS). VUS was reported in 17.2% of the Hispanic individuals compared with 9% NHW ( P = .005). CONCLUSION: Individuals of Hispanic ethnicity were significantly more likely to harbor a VUS compared with NHW. The extended reach into our regional communities revealed a gap in the ability to accurately interpret genomic variation with implications for advising patients on screening, prevention, and management strategies. A higher percentage of VUS also emphasizes the challenge of continued follow-up amid existing barriers that led to disparities in access. As understanding of the variants develops, hopefully gaps in knowledge of the genomic landscape will be lessened with increased clarity to provide accurate cancer risk assessment and recommendations for implementing prevention initiatives.

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Section: Discussionmentioning

confidence: 99%

Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas

Soewito

Wyatt

Berenson

et al. 2022

JCO Oncology Practice

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“…Given that the CHARM study was embedded in a clinical setting, the identification of these facilitating factors could also prove useful for improving access to genomic medicine more broadly. 18 As practices are translated from the research setting to the clinical setting, this increased understanding of how these 3 factors impact the uptake of genomic medicine could lead to greater and more equitable access to care. Future research should continue to explore a range of issues related to these 3 factors, eg, the role of insurance in addressing cost barriers, accessibility of genomic research studies, and the effect of varying degrees of trust and respect in clinical relationships on translational research.…”

Section: Discussionmentioning

confidence: 99%

“…[19][20][21] Importantly, cost and insurance coverage may also affect access to downstream health care and social services that may be recommended on the basis of genetic screening results. 18 Efforts to address cost barriers are therefore needed not only at the point of screening but also for the services that genetic screening facilitates.…”

Section: Discussionmentioning

confidence: 99%

Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings

Duenas

Shipman

Porter

et al. 2022

Genetics in Medicine

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Understanding the motivations and concerns of patients from diverse populations regarding participation in implementation research provides the needed evidence about how to design and conduct studies for facilitating access to genetics services. Within a hereditary cancer screening study assessing a multifaceted intervention, we examined primary care patients' motivations and concerns about participation. Methods: We surveyed and interviewed study participants after they enrolled, surveyed those who did not complete enrollment, and used descriptive qualitative and quantitative methods to identify motivations and concerns regarding participation. Results: Survey respondents' most common motivations included a desire to learn about their future risk (81%), receiving information that may help family (58%), and a desire to advance research (34%). Interviews revealed 3 additional important factors: affordability of testing, convenience of participation, and clinical relationships supporting research decision-making. Survey data of those who declined enrollment showed that the reasons for declining included concerns about privacy (38%), burdens of the research (19%), and their fear of not being able to cope with the genetic information (19%). Conclusion: Understanding the facilitating factors and concerns that contribute to decisions about research may reveal ways to improve equity in access to care and research that could lead to greater uptake of genomic medicine across diverse primary care patient populations.

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“…Additionally, the pandemic amplified the complexities of conducting research at the clinical-research boundary (Halverson et al, 2020;Wolf et al, 2018) (Gutierrez et al, 2021). CSER project representatives discussed their observations of how these policies affected participants 0 experiences, raising important questions for analysis as to whether these types of access barriers disproportionately impacted participants from underrepresented or underserved populations or recruitment of individuals from these groups.…”

Section: Discussionmentioning

confidence: 99%

Conducting clinical genomics research during the COVID‐19 pandemic: Lessons learned from the CSER consortium experience

Kraft

Russell

Bensen

et al. 2022

American J of Med Genetics Pt A

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Clinical research studies have navigated many changes throughout the COVID-19 pandemic. We sought to describe the pandemic 0 s impact on research operations in the context of a clinical genomics research consortium that aimed to enroll a majority of participants from underrepresented populations. We interviewed (July to November 2020) and surveyed (May to August 2021) representatives of six projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium, which studies the implementation of genome sequencing in the clinical care of patients from populations that are underrepresented in genomics research or are medically underserved. Questions focused on COVID 0 s impact on participant recruitment, enrollment, and engagement, and the transition to teleresearch. Responses were combined and thematically analyzed. Projects described factors at the project, institutional, and community levels that affected their experiences. Project factors included the project 0 s progress at the pandemic 0 s onset, the urgency of in-person clinical care for the disease being studied, and the degree to which teleresearch procedures were already incorporated. Institutional and community factors included institutional

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

Abstract: This version may be subject to change during the production process.

Cited by 26 publications

References 76 publications

Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas

Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas

Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings

Conducting clinical genomics research during the COVID‐19 pandemic: Lessons learned from the CSER consortium experience

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