{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T00:13:08Z","timestamp":1783210388123,"version":"3.54.6"},"reference-count":23,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T00:00:00Z","timestamp":1761782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>The goal of newborn screening (NBS) has remained the same despite its significant expansion from its inception as a public health initiative. This goal is to identify infants that are at risk for a set list of conditions and to implement a care plan to prevent, delay, or mitigate adverse health outcomes for those affected. The role of genetic counselors (GCs) in the NBS space is currently evolving, and there is limited research on parental experiences with genetic counseling for more recently added conditions on a list approved by the U.S. Secretary of Health and Human Services called the Recommended Uniform Screening Panel (RUSP). This qualitative study interviewed parents who have spoken to a genetic counselor after their child was diagnosed with one of three following conditions in the past five years: Pompe disease, X-linked Adrenoleukodystrophy, and Spinal Muscular Atrophy. A total of 13 interviews were conducted and results were organized into five thematic areas: (1) NBS\/Results Disclosure, (2) Diagnostic Process after NBS, (3) Treatment\/Follow-Up, (4) Communication, and (5) Holistic Support. The findings of this study highlighted parental preferences for early involvement of genetic counselors, provider, and parent education on NBS, and the provision of family support beyond genetic resources.<\/jats:p>","DOI":"10.3390\/ijns11040101","type":"journal-article","created":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T01:23:59Z","timestamp":1761873839000},"page":"101","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP)"],"prefix":"10.3390","volume":"11","author":[{"given":"Macie","family":"Hricovec","sequence":"first","affiliation":[{"name":"Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7598-3820","authenticated-orcid":false,"given":"Amy","family":"Gaviglio","sequence":"additional","affiliation":[{"name":"Connetics Consulting, LLC., Minneapolis, MN 55417, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Mealwitz","sequence":"additional","affiliation":[{"name":"Licensed and Board-Certified Genetic Counselor, Columbus, OH 43214, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Merrill","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron J.","family":"Goldenberg","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA"},{"name":"Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ped4.12343","article-title":"Newborn screening for genetic disorders: Current status and prospects for the future","volume":"6","author":"Ding","year":"2022","journal-title":"Pediatr Investig."},{"key":"ref_2","unstructured":"(2024, February 13). 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Available online: https:\/\/www.acog.org\/clinical\/clinical-guidance\/committee-opinion\/articles\/2017\/03\/carrier-screening-for-genetic-conditions."},{"key":"ref_14","first-page":"e36197","article-title":"Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma)","volume":"15","author":"Ogbonmide","year":"2023","journal-title":"Cureus"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-022-02554-9","article-title":"Parental coping with uncertainties along the severe combined immunodeficiency journey","volume":"17","author":"Kutsa","year":"2022","journal-title":"Orphanet. J. 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Perinatal Depression, StatPearls, Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK519070\/."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Sandelowsky, S.A., McEwen, A., Russell, J., Boggs, K., Junek, R., Ellaway, C., Selvanathan, A., Farrar, M.A., and Bhattacharya, K. (2025). An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening. Int. J. Neonatal Screen., 11.","DOI":"10.3390\/ijns11020032"}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/4\/101\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T02:01:14Z","timestamp":1761876074000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/4\/101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,30]]},"references-count":23,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["ijns11040101"],"URL":"https:\/\/doi.org\/10.3390\/ijns11040101","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,30]]}}}