ELSI in Review • September 2022

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 2022 set explores parent experiences with newborn screening, healthcare AI, and perceived utility of genomic sequencing. 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!

Precision Medicine and Public Health

• Erdmann, A., Rehmann-Sutter, C., & Bozzaro, C. (2021). Patients' and professionals' views related to ethical issues in precision medicine: A mixed research synthesis. BMC Medical Ethics, 22(1), 116. https://doi.org/10.1186/s12910-021-00682-8
• Baldwin, H., Loebel-Davidsohn, L., Oliver, D., Salazar de Pablo, G., Stahl, D., Riper, H., & Fusar-Poli, P. (2022). Real-world implementation of precision psychiatry: A systematic review of barriers and facilitators. Brain Sciences, 12(7), 934. https://doi.org/10.3390/brainsci12070934
• Pezzullo, A. M., Sassano, M., Hoxhaj, I., Pastorino, R., & Boccia, S. (2021). Citizen engagement initiatives in precision health in the European Union member states: A scoping review. BMJ Open, 11(7), e045846. http://dx.doi.org/10.1136/bmjopen-2020-045846
• Chen, Z., Jiang, W., Xu, J., Jiang, L., & Wang, G. (2022). Ethical, legal, and social implications of genomics in China: A scoping review and implications for precision public health. China CDC Weekly, 4(32), 706-710. http://dx.doi.org/10.46234/ccdcw2022.147

Disability

• Strnadová, I., Nevin, S. M., Scully, J. L., & Palmer, E. E. (2022). The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review. Genetics in Medicine, 24(3), 535–548. https://doi.org/10.1016/j.gim.2021.11.013
• Donnelly, C. M., Quinlivan, R. M., Herron, A. & Graham, C. D. (2022): A systematic review and qualitative synthesis of the experiences of parents of individuals living with Duchenne muscular dystrophy. Disability and Rehabilitation, Advance online publication. https://doi.org/10.1080/09638288.2022.2060336

BRCA1/BRCA2 

• McNamara, N., Feeney, M., Giltenane, M., & Dowling, M. (2022). Breast cancer genetic mutation: Synthesis of women's experience. Journal of Clinical Nursing, Advance online publication, 1-15.  https://doi.org/10.1111/jocn.16498
• Bracke, X., Roberts, J., & McVeigh, T. P. (2021). A systematic review and meta‐analysis of telephone vs in‐person genetic counseling in BRCA1/BRCA2 genetic testing. Journal of Genetic Counseling, 30(2), 563-573. https://doi.org/10.1002/jgc4.1343
• Woof, V. G., Howell, A., McWilliams, L., Gareth Evans, D., & French, D. P. (2022). How do women who are informed that they are at increased risk of breast cancer appraise their risk? A systematic review of qualitative research. British Journal of Cancer, 1-9. https://doi.org/10.1038/s41416-022-01944-x

Pharmacogenomic Testing in Primary Care

• Qureshi, S., Latif, A., Condon, L., Akyea, R. K., Kai, J., & Qureshi, N. (2021). Understanding the barriers and enablers of pharmacogenomic testing in primary care: A qualitative systematic review with meta-aggregation synthesis. Pharmacogenomics, 23(2), 135-154. https://doi.org/10.2217/pgs-2021-0131
• Hansen, J. M., Nørgaard, J. D., & Sporrong, S. K. (2021). A systematic review of pharmacogenetic testing in primary care: Attitudes of patients, general practitioners, and pharmacists. Research in Social and Administrative Pharmacy. https://doi.org/10.1016/j.sapharm.2021.12.002

Newborn Screening

• White, A. L., Boardman, F., McNiven, A., Locock, L., & Hinton, L. (2021). Absorbing it all: A meta-ethnography of parents’ unfolding experiences of newborn screening. Social Science & Medicine, 287, 114367. 10.1016/j.socscimed.2021.114367
• Rosettenstein, K. R., Lain, S. J., Wormleaton, N., & Jack, M. M. (2021). A systematic review of the outcomes of false‐positive results on newborn screening for congenital hypothyroidism. Clinical Endocrinology, 95(5), 766-781. https://doi.org/10.1111/cen.14562

Genome Sequencing

• Smith, H.S., Morain, S.R., Robinson, J.O., Canfield, I., Malek, J., Rubanovich, C. K., Bloss, C. S., Ackerman, S. L., Biesecker, B., Brothers, K. B., Goytia, C. N., Horowitz, C. R., Knight, S. J., Koenig, B., Kraft, S. A., Outram, S., Rini, C., Shipman, K. J., Waltz, M., Wilfond, B., & McGuire, A. L. Perceived utility of genomic sequencing: qualitative analysis and synthesis of a conceptual model to inform patient-centered instrument development. Patient, 15, 317–328 (2022). https://doi.org/10.1007/s40271-021-00558-4
• Nurchis, M. C., Riccardi, M. T., Radio, F. C., Chillemi, G., Bertini, E. S., Tartaglia, M., Cicchetti, A., Dallapiccola, B., & Damiani, G. (2022). Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence. Health Policy, 126(4), 337-345. https://doi.org/10.1016/j.healthpol.2022.03.001
• Haidar, H., & Iskander, R. (2022). Non-invasive prenatal testing for fetal whole genome sequencing: An interpretive critical review of the ethical, legal, social, and policy implications. Canadian Journal of Bioethics, 5(1), 1-15. https://doi.org/10.7202/1087199ar

Health Equity

• Okah, E., Glover, L., Donahue, K. E., Corbie-Smith, G., & Dave, G. (2022). Physicians’ perceptions of race and engagement in race-based clinical practice: a Mixed-Methods Systematic Review and Narrative Synthesis. Journal of General Internal Medicine, 1-10. https://doi.org/10.1007/s11606-022-07737-5
• Evans, L., Engelman, M., Mikulas, A., Malecki, K. (2021). How are social determinants of health integrated into epigenetic research? A systematic review, Social Science & Medicine, 273, 113738. https://doi.org/10.1016/j.socscimed.2021.113738

Healthcare AI

• Čartolovni, A., Tomičić, A., & Mosler, E. L. (2022). Ethical, legal, and social considerations of AI-based medical decision-support tools: A scoping review. International Journal of Medical Informatics, 161, 104738. https://doi.org/10.1016/j.ijmedinf.2022.104738
• Goirand, M., Austin, E., & Clay-Williams, R. (2021). Implementing ethics in healthcare AI-based applications: a scoping review. Science and Engineering Ethics, 27(5), 1-53. https://doi.org/10.1007/s11948-021-00336-3