{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T01:58:57Z","timestamp":1760234337744,"version":"build-2065373602"},"reference-count":32,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R01MH074090","R01MH107431"],"award-info":[{"award-number":["R01MH074090","R01MH107431"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Genomic variants that cause neurodevelopmental\/psychiatric disorders (NPD) are relatively prevalent and highly penetrant. This study aimed to understand adults\u2019 immediate responses to receiving NPD-related results to inform inclusion in population-based genomic screening programs. Nine recurrent, pathogenic copy number variants (CNVs) were identified from research exome data, clinically confirmed, and disclosed to adult participants of the Geisinger MyCode Community Health Initiative DiscovEHR cohort by experienced genetic counselors. A subset of in-person genetic counseling sessions (n = 27) were audio-recorded, transcribed, and coded using a grounded theory approach. Participant reactions were overwhelmingly positive and indicated that an NPD genetic etiology was highly valuable and personally useful. Participants frequently reported learning disabilities or other NPD that were not documented in their electronic health records and noted difficulties obtaining support for NPD needs. Most intended to share their genetic result with family members and health care providers and were interested in how their result could improve their healthcare. This study indicates that results from population-based NPD genomic screening can provide personal value for adults with NPD, were viewed positively by participants, and could improve clinical outcomes by informing symptom monitoring for NPD and co-morbidities, promoting improved health behaviors, and enhancing psychotherapeutic approaches.<\/jats:p>","DOI":"10.3390\/jpm11050365","type":"journal-article","created":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T21:35:39Z","timestamp":1619904939000},"page":"365","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Population Genomic Screening for Genetic Etiologies of Neurodevelopmental\/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3711-7670","authenticated-orcid":false,"given":"Karen E.","family":"Wain","sequence":"first","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0794-4904","authenticated-orcid":false,"given":"Kasia","family":"Tolwinski","sequence":"additional","affiliation":[{"name":"Biomedical Ethics Unit, McGill University, Montreal, QC H3A 1X1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"Palen","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3354-1746","authenticated-orcid":false,"given":"Alexis R.","family":"Heidlebaugh","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karahlyn","family":"Holdren","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren Kasparson","family":"Walsh","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew T.","family":"Oetjens","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Ledbetter","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christa Lese","family":"Martin","sequence":"additional","affiliation":[{"name":"Autism &amp; Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am. 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