@article{bacfd26df09744439ef92a58afef32af,
title = "Lessons learned from a study of genomics-based carrier screening for reproductive decision making",
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.",
author = "Wilfond, {Benjamin S.} and Kauffman, {Tia L.} and Jarvik, {Gail P.} and Reiss, {Jacob A.} and Richards, {C. Sue} and Carmit McMullen and Marian Gilmore and Patricia Himes and Kraft, {Stephanie A.} and Porter, {Kathryn M.} and Schneider, {Jennifer L.} and Sumit Punj and Leo, {Michael C.} and Dickerson, {John F.} and Lynch, {Frances L.} and Elizabeth Clarke and Rope, {Alan F.} and Kevin Lutz and Goddard, {Katrina A.B.}",
note = "Funding Information: A previous version of this article was presented as a poster at the 67th Annual Meeting of the American Society of Human Genetics, October 19, 2017, Orlando, Florida, by Katrina Goddard, Tia Kauffman, Carmit McMullen, Jacob Reiss, C. Sue Richards, Gail Jarvik, and Benjamin Wilfond on behalf of the NextGen project team, with the title {"}Lessons Learned about Expanded Carrier Screening Using Genome Sequencing: Implications for Research and Practice{"} (Abstract No. 536T). This work was supported by grants from the National Human Genome Research Institute (Grant Nos. UM1HG007292, co-principal investigators Goddard and Wilfond), with additional support from Grant No. U01HG007307, principal investigator Jarvik (Coordinating center) as part of the Clinical Sequencing Exploratory Research consortium Publisher Copyright: {\textcopyright} 2018 Project HOPE- The People-to-People Health Foundation, Inc.",
year = "2018",
doi = "10.1377/hlthaff.2017.1578",
language = "English (US)",
volume = "37",
pages = "809--816",
journal = "Health Affairs",
issn = "0278-2715",
publisher = "Project Hope",
number = "5",
}