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Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals

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Abstract

Genetic screening to inform personal risk has only recently become an option as the cost of sequencing decreases, and our ability to interpret sequence variants improves. Studies have demonstrated that people want to learn about their genetic information and do well after learning it, but minorities are underrepresented in these studies. We surveyed Ashkenazi Jewish (AJ) and Latino/a participants in a genetic screening study to solicit choices about genetic results to return, as well as their experience with learning these results and attitudes about genetic information secrecy and security. Participants had the option to proceed through the study self-guided, and few elected to have traditional pre-test genetic education and counseling. Despite this, the majority were satisfied with the process of selecting and receiving genetic results and felt that they understood their results. Concerns about privacy and confidentiality of genetic data were minimal, though some participants expressed modest concerns about keeping any potential results secret or the confidentiality of their genetic information. Our results support the feasibility of the option of self-guided genetic screening. Additional care will need to be taken when designing population-based screening studies to meet the needs of participants who come from communities with different experiences with genetics.

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Acknowledgements

We would like to thank the participants of this research study. We also thank Michelle Kowanda, Stephanie Tang, Ian Halim, and Anoushka Sinha for assistance with recruiting participants.

Funding

Research was funded by U01HG008680 (PIs: C.W., George Hripcsak, and Ali G. Gharavi) and UL1TR001873 (PI: Reilly), RM1HG007257 (PI: Appelbaum), U54 TR00187 (PI: Reilly), and 5TL1TR001875-02 (PI: Ginsberg).

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Authors and Affiliations

  1. Vagelos College of Physician & Surgeons, Columbia Irving University, New York, NY, USA

    Anne E. Reed-Weston

  2. Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA

    Aileen Espinal, Bianca Hasar, Wendy K. Chung & Julia Wynn

  3. Department of Biostatistics, Columbia University Irving Medical Center, New York, NY, USA

    Codruta Chiuzan

  4. Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA

    Gabriel Lazarin

  5. Myriad Women’s Health (Formerly Counsyl), South San Francisco, CA, USA

    Chunhua Weng

  6. Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA

    Paul S. Appelbaum

  7. Department of Medicine, Columbia University Medical Irving Center, New York, NY, USA

    Wendy K. Chung

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  1. Anne E. Reed-Weston
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  2. Aileen Espinal
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  3. Bianca Hasar
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  4. Codruta Chiuzan
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  5. Gabriel Lazarin
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  6. Chunhua Weng
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  7. Paul S. Appelbaum
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  8. Wendy K. Chung
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  9. Julia Wynn
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Contributions

WKC, PSA, and CW conceived the study. JW, PSA, WKC, and CW designed the study and developed study materials. GL generated genetic results. JW, AE, and BH enrolled participants and collected data. JW, CC, and AERW analyzed data and interpreted the results. AERW and JW wrote the manuscript. All authors contributed and discussed the results and critically reviewed the manuscript.

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Reed-Weston, A.E., Espinal, A., Hasar, B. et al. Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals. J Community Genet 11, 391–403 (2020). https://doi.org/10.1007/s12687-020-00464-6

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