Expanded Carrier Screening (ECS): Clinical and Ethical Considerations for Genetic Counseling
Targeted carrier screening began over 50 years ago with a focus on populations at increased risk for specific genetic conditions based on patient-reported racial, ethnic, or ancestral background. As genetic technologies have evolved, testing laboratories have begun offering expanded carrier screening (ECS) panels. Recently, the American College of Medical Genetics and Genomics (ACMG) recommended a universal approach to carrier screening for pregnant patients and those considering a pregnancy, due to the increased recognition that self-identified ancestry is imperfect. These guidelines utilize a tiered approach and recommend ECS screening for autosomal recessive and x-linked disorders with a carrier frequency of 1/200 or higher. Reproductive partners can be tested simultaneously or sequentially.
A goal of ECS is enabling informed reproductive decision-making for a broader number of people by offering screening consistently and equitably to all patients. Those identified through expanded screening that have increased risk of producing a child with a genetic condition can choose not to have children, use a donor gamete/embryo, utilize invitro fertilization (IVF) and…
- Boardman, F. K., & Hale, R. (2018). How do genetically disabled adults view selective reproduction? Impairment, identity, and genetic screening. Molecular Genetics & Genomic Medicine, 6(6), 941–956.
- Nesbit, C. B., Pollack, C. C., Mascia, N. S., Lacroix, V. H., Applebee, D. M., Bosco, A. W., Wilkinson‐Ryan, I., Erekson, E. D., & Evans, R. H. (2021). Interest in and uptake of genetic counseling for preconception carrier screening when offered to predominantly white reproductive‐age persons seeking gynecologic care at a single U.S. academic medical center. Journal of Genetic Counseling. Advance online publication.
- Giles Choates, M., Stevens, B. K., Wagner, C., Murphy, L., Singletary, C. N., & Wittman, A. T. (2019). It takes two: Uptake of carrier screening among male reproductive partners. Prenatal Diagnosis, 40(3), 311–316.
- Propst, L., Connor, G., Hinton, M., Poorvu, T., & Dungan, J. (2018). Pregnant women’s perspectives on expanded carrier screening. Journal of Genetic Counseling, 27(5), 1148–1156.
- Van Steijvoort, E., Chokoshvili, D., Cannon, J. W., Peeters, H., Peeraer, K., Matthijs, G., & Borry, P. (2020). Interest in expanded carrier screening among individuals and couples in the general population: Systematic review of the literature. Human Reproduction Update, 26(3), 335-355.
- Silver, J., & Norton, M. E. (2021). Expanded carrier screening and the complexity of implementation. Obstetrics and Gynecology, 137(2), 345–350.
- Sparks, T. N. (2020). Expanded carrier screening: Counseling and considerations. Human Genetics, 139(9), 1131–1139.
- Dive, L., & Newson, A. J. (2021). Reproductive carrier screening: Responding to the eugenics critique. Journal of Medical Ethics. Advance online publication.
- Hout, S., Dondorp, W., & De Wert, G. (2019). The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood. Bioethics, 33(5), 568–576.
- Kraft, S. A., Duenas, D., Wilfond, B. S., & Goddard, K. A. B. (2019). The evolving landscape of expanded carrier screening: Challenges and opportunities. Genetics in Medicine, 21(4), 790–797.
- Lynch, F. L., Himes, P., Gilmore, M.J., Morris, E. M., Schneider, J. L., Kauffman, T., L., Shuster, E., Reiss, J. A. Dickerson, J. F., Leo, M. C., Davis, J. V., McMullen, C., K., Wilfond, B. S., Goddard, K. A. B. (2018). Time costs for genetic counseling in preconception carrier screening with genome sequencing. Journal of Genetic Counseling, 27(4), 823-833.
- Johansen Taber, K.A., Beauchamp, K.A., Lazarin, G.A., Muzzey, D., Arjunan, A., & Goldberg, J.D. (2018). Clinical utility of expanded carrier screening: results-guided actionability and outcomes. Genetics in Medicine, 21(5), 1041-1048.
- Gregg, A. R., Aarabi, M., Klugman, S., Leach, N. T., Bashford, M. T., Goldwaser, T., Chen, E., Sparks, T. N., Reddi, H. V., Rajkovic, A., & Dungan, J. S. (2021). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: A practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 23(10), 1793–1806.
- Gregg, A. R., Aarabi, M., Klugman, S., Leach, N. T., Bashford, M. T., Goldwaser, T., Chen, E., Sparks, T. N., Reddi, H. V., Rajkovic, A., & Dungan, J. S. (2021). Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 23(10), 1.
- Edwards, J. G., Feldman, G., Goldberg, J., Gregg, A. R., Norton, M. E., Rose, N. C., Schneider, A., Stoll, K., Wapner, R., & Watson, M. S. (2015). Expanded carrier screening in reproductive medicine-points to consider: A joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstetrics and Gynecology, 125(3), 653–662.
About ELSIhub Collections
ELSIhub Collections are essential reading lists on fundamental or emerging topics in ELSI, curated and explained by expert Collection Editors, often paired with ELSI trainees. This series assembles materials from cross-disciplinary literatures to enable quick access to key information.