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. 2021 May 1;11(5):365.
doi: 10.3390/jpm11050365.

Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses

Karen E Wain  1 , Kasia Tolwinski  2 , Emily Palen  1 , Alexis R Heidlebaugh  1 , Karahlyn Holdren  1 , Lauren Kasparson Walsh  1 , Matthew T Oetjens  1 , David H Ledbetter  1 , Christa Lese Martin  1
Affiliations

Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses

Karen E Wain et al. J Pers Med. .

Abstract

Genomic variants that cause neurodevelopmental/psychiatric disorders (NPD) are relatively prevalent and highly penetrant. This study aimed to understand adults' 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.

Keywords: brain disorders; copy number variant; genomic screening; neuropsychiatric disorders; personal utility.

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Conflict of interest statement

Ledbetter is a consultant for Natera, Inc, MyOme, and Seven Bridges Genomics. The other authors declare no conflicts of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Neurodevelopmental/psychiatric diagnoses there were documented in participants’ electronic health record (EHR) versus participant reported diagnoses that were absent from the EHR. NPD—neurodevelopmental/psychiatric disorder; OCD—obsessive compulsive disorder; ID—intellectual disability; ADHD—attention deficit hyperactivity disorder; ADD—attention deficit disorder.
See this image and copyright information in PMC

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