Lessons learned from a study of genomics-based carrier screening for reproductive decision making

Benjamin S. Wilfond, Tia L. Kauffman, Gail P. Jarvik, Jacob A. Reiss, C. Sue Richards, Carmit McMullen, Marian Gilmore, Patricia Himes, Stephanie A. Kraft, Kathryn M. Porter, Jennifer L. Schneider, Sumit Punj, Michael C. Leo, John F. Dickerson, Frances L. Lynch, Elizabeth Clarke, Alan F. Rope, Kevin Lutz, Katrina A.B. Goddard

Research output: Contribution to journalComment/debate

4 Scopus citations

Abstract

Genomics-based carrier screening is one of many opportunities to use genomic information to inform medical decision making, but clinicians, health care delivery systems, and payers need to determine whether to offer screening and how to do so in an efficient, ethical way. To shed light on this issue, we conducted a study in the period 2014-17 to inform the design of clinical screening programs and guide further health services research. Many of our results have been published elsewhere; this article summarizes the lessons we learned from that study and offers policy insights. Our experience can inform understanding of the potential impact of expanded carrier screening services on health system workflows and workforces-impacts that depend on the details of the screening approach.We found limited patient or health system harms from expanded screening. We also found that some patients valued the information they learned from the process. Future policy discussions should consider the value of offering such expanded carrier screening in health delivery systems with limited resources.

Original languageEnglish (US)
Pages (from-to)809-816
Number of pages8
JournalHealth Affairs
Volume37
Issue number5
DOIs
StatePublished - Jan 1 2018

ASJC Scopus subject areas

  • Health Policy

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    Wilfond, B. S., Kauffman, T. L., Jarvik, G. P., Reiss, J. A., Richards, C. S., McMullen, C., Gilmore, M., Himes, P., Kraft, S. A., Porter, K. M., Schneider, J. L., Punj, S., Leo, M. C., Dickerson, J. F., Lynch, F. L., Clarke, E., Rope, A. F., Lutz, K., & Goddard, K. A. B. (2018). Lessons learned from a study of genomics-based carrier screening for reproductive decision making. Health Affairs, 37(5), 809-816. https://doi.org/10.1377/hlthaff.2017.1578