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While early initiation of treatment is lifesaving for those with infantile presentations, controversy continues regarding diagnosis of milder, later\u2010onset diseases in infancy, including creation of pre\u2010symptomatic populations of \u2018patients\u2010in\u2010waiting\u2019, the potential for medicalization, stigmatization, and\/or discrimination. In\u2010depth interviews were conducted with 36 adults [11 with Fabry disease (FD), 8 with Gaucher disease (GD), and 17 with late\u2010onset Pompe disease (LOPD)], to determine their perspectives on NBS for their respective conditions. Thirty\u2010four of 36 participants were in favor of NBS; both participants not in favor had GD1. Emergent themes influencing participants favorably toward NBS included earlier age of onset, a long diagnostic odyssey, less efficacious treatment, and the desire to have made different life decisions (e.g., relationships, career, or lifestyle) with the knowledge of their diagnosis. Concerns about insurance discrimination and psychological or physical burdens were associated with less favorable opinions of NBS. The ability for parents to make future reproductive decisions based their child's NBS result was considered favorably by some participants and unfavorably by others. Participants\u2019 specific condition (GD1, FD, or LOPD) contributed to these experiences differently. Participants with LOPD and FD favored NBS to initiate earlier treatment and prevent irreversible organ damage, whereas fewer patients with GD1 mentioned this benefit. Participants with LOPD had the longest diagnostic odyssey, while those with FD were more likely to report feeling misunderstood and experiencing accusations of malingering, both contributing to favorable views of NBS. Results expand prior quantitative findings by illuminating how participants\u2019 lived experiences can shape opinions about NBS. By understanding how currently affected individuals perceive the lifelong impact of a NBS result, genetic counselors can provide better anticipatory guidance to the parents of individuals diagnosed with a later\u2010onset LSD by NBS.<\/jats:p>","DOI":"10.1002\/jgc4.1421","type":"journal-article","created":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T10:10:09Z","timestamp":1620036609000},"page":"1544-1558","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Opinions of adults affected with later\u2010onset lysosomal storage diseases regarding newborn screening: A qualitative study"],"prefix":"10.1002","volume":"30","author":[{"given":"Emily C.","family":"Lisi","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University Atlanta GA USA"},{"name":"Graduate School for Arts and Sciences\u2010 Biomedical Sciences Division Wake Forest University Winston\u2010Salem NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,3]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedhc.2017.04.016"},{"issue":"2","key":"e_1_2_14_3_1","doi-asserted-by":"crossref","first-page":"S24","DOI":"10.1016\/j.ymgme.2019.11.032","article-title":"Complicated cases and the need for individualized follow up plans for children diagnosed with Pompe disease via newborn screening","volume":"129","author":"Austin S.","year":"2020","journal-title":"Molecular Genetics and Metabolism"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-0820"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2019.1206"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2014-307376"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0172532"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0280C"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.03.008"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.06.048"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.12.004"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2013.03.009"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.11.099"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedn.2017.10.002"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12613"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0483-4"},{"key":"e_1_2_14_17_1","unstructured":"Genetic Information Nondiscrimination Act of 2008 no. 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