caa a22 4500 605544484 CHVBK 20210128100931.0 cr unu---uuuuu 210128e20150601xx s 000 0 eng 10.1007/s10897-014-9779-3 doi (NATIONALLICENCE)springer-10.1007/s10897-014-9779-3 Genetics Professionals' Opinions of Whole-Genome Sequencing in the Newborn Period [Elektronische Daten] [Elizabeth Ulm, W. Feero, Richard Dineen, Joel Charrow, Catherine Wicklund] Newborn screening (NBS) programs have been successful in identifying infants with rare, treatable, congenital conditions. While current programs rely largely on biochemical analysis, some predict that in the future, genome sequencing may be used as an adjunct. The purpose of this exploratory pilot study was to begin to characterize genetics professionals' opinions of the use of whole-genome sequencing (WGS) in NBS. We surveyed members of the American College of Medical Genetics and Genomics (ACMG) via an electronic survey distributed through email. The survey included questions about results disclosure, the current NBS paradigm, and the current criteria for adding a condition to the screening panel. The response rate was 7.3% (n = 113/1549). The majority of respondents (85%, n = 96/113) felt that WGS should not be currently used in NBS, and that if it were used, it should not be mandatory (86.5%, n = 96/111). However, 75.7% (n = 84/111) foresee it as a future use of WGS. Respondents felt that accurate interpretation of results (86.5%, n = 83/96), a more extensive consent process (72.6%, n = 69/95), pre- (79.2%, n = 76/96) and post-test (91.6%, n = 87/95) counseling, and comparable costs (70.8%, n = 68/96) and turn-around-times (64.6%, n = 62/96) to current NBS would be important for using WGS in NBS. Participants were in favor of disclosing most types of results at some point in the lifetime. However, the majority (87.3%, n = 96/110) also indicated that parents should be able to choose what results are disclosed. Overall, respondents foresee NBS as a future use of WGS, but indicated that WGS should not occur within the framework of traditional NBS. They agreed with the current criteria for including a condition on the recommended uniform screening panel (RUSP). Further discussion about these criteria is needed in order to better understand how they could be utilized if WGS is incorporated into NBS. National Society of Genetic Counselors, Inc., 2014 Whole-genome sequencing nationallicence Newborn screening nationallicence Public health nationallicence Ulm Elizabeth Center for Genetic Medicine, Northwestern University, Chicago, IL, USA aut Feero W. Maine-Dartmouth Family Medicine Residency, Augusta, ME, USA aut Dineen Richard University of Illinois Medical Center, Chicago, IL, USA aut Charrow Joel Center for Genetic Medicine, Northwestern University, Chicago, IL, USA aut Wicklund Catherine Center for Genetic Medicine, Northwestern University, Chicago, IL, USA aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/3(2015-06-01), 452-463 1059-7700 24:3<452 2015 24 10897 https://doi.org/10.1007/s10897-014-9779-3 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-014-9779-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ulm Elizabeth Center for Genetic Medicine, Northwestern University, Chicago, IL, USA aut NATIONALLICENCE 700 1- Feero W. Maine-Dartmouth Family Medicine Residency, Augusta, ME, USA aut NATIONALLICENCE 700 1- Dineen Richard University of Illinois Medical Center, Chicago, IL, USA aut NATIONALLICENCE 700 1- Charrow Joel Center for Genetic Medicine, Northwestern University, Chicago, IL, USA aut NATIONALLICENCE 700 1- Wicklund Catherine Center for Genetic Medicine, Northwestern University, Chicago, IL, USA aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/3(2015-06-01), 452-463 1059-7700 24:3<452 2015 24 10897