ELSI in Review • March 2022

About this listing

ELSI in Review is a listing of recently published, systematic reviews of the literature on key ELSI topics curated by CERA staff. Our March 2022 set explores rare genetic diseases, digital phenotyping, results disclosure, 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!

Rare Genetic Diseases: Ethical Issues

• Kruse, J., Mueller, R., Aghdassi, A. A., Lerch, M. M., & Salloch, S. (2022) Genetic testing for rare diseases: A systematic review of ethical aspects. Frontiers in Genetics, 12(1), 1-14.
• Miller, E. G., Woodward, A. L., Flinchum, G., Young, J. L., Tabor, H. K., & Halley, M. C. (2021). Opportunities and pitfalls of social media research in rare genetic diseases: A systematic review. Genetics in Medicine, 23(12), 2250–2259.

Receiving and Disclosing Test Results

• Phillips, A., Borry, P., Van Hoyweghen, I., & Vears, D. F. (2021). Disclosure of genetic information to family members: A systematic review of normative documents. Genetics in Medicine, 23(11), 2038–2046.
• Gomes, P., Pietrabissa, G., Silva, E. R., Silva, J., Matos, P. M., Costa, M. E., Bertuzzi, V., Silva, E., Neves, M. C., & Sales, C. M. D. (2022). Family adjustment to hereditary cancer syndromes: A systematic review. International Journal of Environmental Research and Public Health, 19(3), 1-22.
• Petrova, D., Cruz, M., & Sánchez, M. (2021). BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications. The Breast, 61(1), 66-76.
• Sapp, J. C., Facio, F. M., Cooper, D., Lewis, K. L., Modlin, E., van der Wees, P. & Biesecker, L. (2021). A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings. Genetics in Medicine, 23(1), 2260–2269.

Preimplantation and Prenatal Genetic Testing

• Siermann, M., Claesen, Z., Pasquier, L., Raivio, T., Tšuiko, O., Vermeesch, J. R., & Borry, P. (2022). A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing. Journal of Community Genetics, 13(1), 1-11.
• Zaami, S., Orrico, A., Signore, F., Cavaliere, A. F., Mazzi, M., & Marinelli, E. (2021). Ethical, Legal and Social Issues (ELSI) associated with non-invasive prenatal testing: Reflections on the evolution of prenatal diagnosis and procreative choices. Genes, 12(2), 1-9.

Digital Technologies in Healthcare and Beyond

• Tomičić, A., Malešević, A. & Čartolovni, A. (2022). Ethical, legal and social issues of digital phenotyping as a future solution for present-day challenges: A scoping review. Science and Engineering Ethics, 28(1), 1-25.
• Gasteiger, N., Vercell, A., Davies, A., Dowding, D., Khan, N., & Davies, A. (2022). Patient-facing genetic and genomic mobile apps in the UK: A systematic review of content, functionality, and quality. Journal of Community Genetics. Advance online publication.
• Murphy, K., Di Ruggiero, E., Upshur, R., Willison, D. J., Malhotra, Ce Cai, J., Malhotra, N., Lui, V., & Gibson, J. (2021). Artificial intelligence for good health: A scoping review of the ethics literature. BMC Medical Ethics, 22(1), 1-17.

Genetic Research on Psychiatric and Neurodevelopmental Disorders

• Mezinska, S., Gallagher, L., Verbrugge, M., & Bunnik, E. M. (2021). Ethical issues in genomics research on neurodevelopmental disorders: A critical interpretive review. Human Genomics, 15(1), 1-14.
• Kikku, N., & Halkoaho, A. (2022). Informed consent, genomic research and mental health: A integrative review. Nursing Ethics. Advance online publication.