ELSI in Review • April 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 April 2022 set explores carrier screening, pharmacogenomics, prenatal testing, and psychosocial interventions. 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 Carrier Screening

• Ramdaney, A., Lichten, L., Propst, L., Mann, C., Lazarin, G. A., Jones, M., Taylor, A., & Malinowski, J. (2022). Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences. Journal of Genetic Counseling. Advance online publication.
• Best, S., Long, J., Theodorou, T., Hatem, S., Lake, R., Archibald, A., Freeman, L., & Braithwaite, J. (2021). Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review. Prenatal Diagnosis, 41(6), 708–719.
• Richardson, E., McEwen, A., Newton-John, T., Crook, A., & Jacobs, C. (2022). Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set. Genetics in Medicine, 24(1).

Pharmacogenetics

• Keeling, N. J., Dunn, T. J., Bentley, J. P., Ramachandran, S., Hoffman, J. M., & Rosenthal, M. (2021). Approaches to assessing the provider experience with clinical pharmacogenomic information: A scoping review. Genetics in Medicine, 23(9), 1589–1603.
• Zubiaur, P., Prósper-Cuesta, D. N., Novalbos, J., Mejía-Abril, G., Navares-Gómez, M., Villapalos-García, G., Soria-Chacartegui, P., & Abad-Santos, F. (2022). Patients' perceptions of pharmacogenetic testing and access to their results: State of the art in Spain and systematic review. Journal of Personalized Medicine, 12(2), 1-11.
• Ontario Health (Quality) (2021). Multi-gene pharmacogenomic testing that includes decision-support tools to guide medication selection for major depression: A health technology assessment. Ontario Health Technology Assessment Series, 21(13), 1–214.
• Burghardt, K. J., Ward, K. M., Howlett, B. H., & Burghardt, P. R. (2021). Personal genotyping and student outcomes in genetic and pharmacogenetic teaching: A systematic review and meta-analysis. Pharmacogenetics, 22(7), 423-433.

Prenatal Testing

• Klapwijk, J. E., Srebniak, M. I., Go, A., Govaerts, L., Lewis, C., Hammond, J., Hill, M., Lou, S., Vogel, I., Ormond, K. E., Diderich, K., Brüggenwirth, H. T., & Riedijk, S. R. (2021). How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies. Clinical Genetics, 100(6), 647–658.
• Peter, M., McInnes-Dean, H., Fisher, J., Tapon, D., Chitty, L. S., & Hill, M. (2022). What's out there for parents? A systematic review of online information about prenatal microarray and exome sequencing. Prenatal Diagnosis, 42(1), 97-108.
• Di Mattei, V., Ferrari, F., Perego, G., Tobia, V., Mauro, F., & Candiani, M. (2021). Decision-making factors in prenatal testing: A systematic review. Health Psychology Open, 8(1), 1-20.

 Psychosocial Interventions

• Bertonazzi, B., Turchetti, D., & Godino, L. (2022). Outcomes of support groups for carriers of BRCA 1/2 pathogenic variants and their relatives: A systematic review. European Journal of Human Genetics. Advance online publication.
• Warner, N. Z., Matthews, S., Groarke, A., & McSharry, J. (2021). A systematic review of psycho-social interventions for individuals with a BRCA1/2 pathogenic variant. Journal of Genetic Counseling, 30(6), 1695-1706.
• Ciucă, A., Moldovan, R., & Băban, A. (2022). Mapping psychosocial interventions in familial colorectal cancer: A rapid systematic review. BMC Cancer, 22(1), 8.
• Barnett, M., Breen, K. E., Kennedy, J. A., Hernandez, M., Matsoukas, K., & MacGregor, M. (2022). Psychosocial interventions and needs among individuals and families with Li-Fraumeni syndrome: A scoping review. Clinical Genetics, 101(2), 161–182.