ELSI in Review • September 2023

About this listing

ELSI in Review is a listing of recently published reviews of the literature on key ELSI topics curated by CERA staff. Our September 2023 set explores ethical challenges associated with infectious disease genomics, global and racial disparities in access to genetic testing, and more. If you would like your ELSI-relevant review featured in this communication, please contact us at [email protected]. You can find more reviews in the ELSIhub Publications database!

Genetic Testing

• Crellin, E., Martyn, M., McClaren, B., & Gaff, C. (2023). What matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases. European Journal of Human Genetics, 31(8), Article 8.
• Inkeroinen, S., Virtanen, H., Stolt, M., & Leino-Kilpi, H. (2023). Patients’ right to know: A scoping review. Journal of Clinical Nursing, 32(15–16), 4311–4324.
• Moufarrej, M. N., Bianchi, D. W., Shaw, G. M., Stevenson, D. K., & Quake, S. R. (2023). Noninvasive prenatal testing using circulating DNA and RNA: Advances, challenges, and possibilities. Annual Review of Biomedical Data Science, 6(1), 397–418.
• Paiella, S., Azzolina, D., Gregori, D., Malleo, G., Golan, T., Simeone, D. M., Davis, M. B., Vacca, P. G., Crovetto, A., Bassi, C., Salvia, R., Biankin, A. V., & Casolino, R. (2023). A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing. ESMO Open, 8(2), Article 100881.
• White, S., Haas, M., Laginha, K.-J., Laurendet, K., Gaff, C., Vears, D., & Newson, A. J. (2023). What’s in a name? Justifying terminology for genomic findings beyond the initial test indication: A scoping review. Genetics in Medicine, 25(11), Article 100936.

Genomics Research

• Abondio, P., Cilli, E., & Luiselli, D. (2023). Human pangenomics: Promises and challenges of a distributed genomic reference. Life, 13(6), Article 6.
• Milne, R., & Patch, C. (2023). Ethical challenges associated with pathogen and host genetics in infectious disease. The New Bioethics, 29(1), 24–36.
• Cruz, L. A., Cooke Bailey, J. N., & Crawford, D. C. (2023). Importance of diversity in precision medicine: Generalizability of genetic associations across ancestry groups toward better identification of disease susceptibility variants. Annual Review of Biomedical Data Science, 6(1), 339–356.

Data Sharing and Stewardship

• Mayo, K. R., Basford, M. A., Carroll, R. J., Dillon, M., Fullen, H., Leung, J., Master, H., Rura, S., Sulieman, L., Kennedy, N., Banks, E., Bernick, D., Gauchan, A., Lichtenstein, L., Mapes, B. M., Marginean, K., Nyemba, S. L., Ramirez, A., Rotundo, C., … Harris, P. A. (2023). The All of Us Data and Research Center: Creating a secure, scalable, and sustainable ecosystem for biomedical research. Annual Review of Biomedical Data Science, 6(1), 443–464.
• Rahimzadeh, V., Knoppers, B. M., & Bartlett, G. (2020). Ethical, legal, and social issues (ELSI) of responsible data sharing involving children in genomics: A systematic literature review of reasons. AJOB Empirical Bioethics, 11(4), 233–245.
• Kerasidou, A., & Kerasidou, C. (2023). Data-driven research and healthcare: Public trust, data governance and the NHS. BMC Medical Ethics, 24(1), Article 51.

Artificial Intelligence

• Benzinger, L., Ursin, F., Balke, W.-T., Kacprowski, T., & Salloch, S. (2023). Should artificial intelligence be used to support clinical ethical decision-making? A systematic review of reasons. BMC Medical Ethics, 24(1), Article 48.
• Gao, Y., Sharma, T., & Cui, Y. (2023). Addressing the challenge of biomedical data inequality: An artificial intelligence perspective. Annual Review of Biomedical Data Science, 6(1), 153–171.