ELSI in Review • July 2024

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 July 2024 set explores perspectives on germline genetic testing, bias in artificial intelligence, 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!

Clinical Genetics

• Hunter, J. D., Hetherington, K., Courtney, E., Christensen, Y., Fuentes-Bolanos, N., Bhatia, K., & Peate, M. (2024). Parents’ and patients’ perspectives, experiences, and preferences for germline genetic or genomic testing of children with cancer: A systematic review. Genetics in Medicine, Article 101197. Advance online publication.
• Capalbo, A., de Wert, G., Mertes, H., Klausner, L., Coonen, E., Spinella, F., Van de Velde, H., Viville, S., Sermon, K., Vermeulen, N., Lencz, T., & Carmi, S. (2024). Screening embryos for polygenic disease risk: A review of epidemiological, clinical, and ethical considerations. Human Reproduction Update, Article dmae012.
• Pozzar, R. A., & Seven, M. (2024). Interventions to support decision making in people considering germline genetic testing for BRCA 1/2 pathogenic and likely pathogenic variants: A scoping review. Journal of Genetic Counseling, 33(2), 392–401.
• Salkind, J., Mintoft, A., Kendall, G., & Ashraf, T. (2024). Genomic testing in neonates. Archives of Disease in Childhood - Education and Practice. Advance online publication.
• Ritchie, Z., Teachman, G., Shaul, R. Z., & Smith, M. J. (2024). “She was finally mine”: The moral experience of families in the context of trisomy 13 and 18– A scoping review with thematic analysis. BMC Medical Ethics, 25(1), 24.

Data Privacy

• Zarchi, G., Sherman, M., Gady, O., Herzig, T., Idan, Z., & Greenbaum, D. (2023). Blockchains as a means to promote privacy protecting, access availing, incentive increasing, ELSI lessening DNA databases. Frontiers in Digital Health, 4, Article 1028249.
• Lidströmer, N., Davids, J., ElSharkawy, M., Ashrafian, H., & Herlenius, E. (2024). Systematic review and meta-analysis for a Global Patient co-Owned Cloud (GPOC). Nature Communications, 15(1), Article 2186.
• Oliva, A., Kaphle, A., Reguant, R., Sng, L. M. F., Twine, N. A., Malakar, Y., Wickramarachchi, A., Keller, M., Ranbaduge, T., Chan, E. K. F., Breen, J., Buckberry, S., Guennewig, B., Haas, M., Brown, A., Cowley, M. J., Thorne, N., Jain, Y., & Bauer, D. C. (2024). Future-proofing genomic data and consent management: A comprehensive review of technology innovations. GigaScience, 13, Article giae021. 

Artificial Intelligence

• Chen, F., Wang, L., Hong, J., Jiang, J., & Zhou, L. (2024). Unmasking bias in artificial intelligence: A systematic review of bias detection and mitigation strategies in electronic health record-based models. Journal of the American Medical Informatics Association, 31(5), 1172–1183.
• Anyanwu, E. C., Okongwu, C. C., Olorunsogo, T. O., Ayo-Farai, O., Osasona, F., & Daraojimba, O. D. (2024). Artificial intelligence in healthcare: A review of ethical dilemmas and practical applications. International Medical Science Research Journal, 4(2), 126–140.
• Okolo, C. A., Olorunsogo, T., Babawarun, O., Okolo, C. A., Olorunsogo, T., & Babawarun, O. (2024). A comprehensive review of AI applications in personalized medicine. International Journal of Science and Research Archive, 11(1), 2544–2549.

Access to Genetic Testing

• Boakye Serebour, T., Cribbs, A. P., Baldwin, M. J., Masimirembwa, C., Chikwambi, Z., Kerasidou, A., & Snelling, S. J. B. (2024). Overcoming barriers to single-cell RNA sequencing adoption in low- and middle-income countries. European Journal of Human Genetics. Advance online publication.
• Levine, R., Kahn, R. M., Perez, L., Brewer, J., Ratner, S., Li, X., Yeoshoua, E., & Frey, M. K. (2024). Cascade genetic testing for hereditary cancer syndromes: A review of barriers and breakthroughs. Familial Cancer, 23(2), 111–120.
• Rodriguez, N. J., & Syngal, S. (2024). Expanding access to genetic testing for pancreatic cancer. Familial Cancer. Advance online publication.