Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians’ attitudes to sociocultural differences between patients across the globe

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Abstract

Genetic testing has evolved rapidly over recent years and new developments have the potential to provide insights that could improve the ability to diagnose, treat, and prevent diseases. Information obtained through genetic testing has proven useful in other specialties, such as cardiology and oncology. Nonetheless, a range of barriers impedes techniques, such as whole-exome or whole-genome sequencing, pharmacogenomics, and polygenic risk scoring, from being implemented in psychiatric practice. These barriers may be procedural (e.g., limitations in extrapolating results to the individual level), economic (e.g., perceived relatively elevated costs precluding insurance coverage), or related to clinicians’ knowledge, attitudes, and practices (e.g., perceived unfavorable cost-effectiveness, insufficient understanding of probability statistics, and concerns regarding genetic counseling). Additionally, several ethical concerns may arise (e.g., increased stigma and discrimination through exclusion from health insurance). Here, we provide an overview of potential barriers for the implementation of genetic testing in psychiatry, as well as an in-depth discussion of strategies to address these challenges.

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Stephan Ripke, Benjamin M. Neale, Aiden Corvin … (2015)

Summary Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here, we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain providing biological plausibility for the findings. Many findings have the potential to provide entirely novel insights into aetiology, but associations at DRD2 and multiple genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that play important roles in immunity, providing support for the hypothesized link between the immune system and schizophrenia.

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Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

Amit Khera, Mark J Chaffin, Krishna Aragam … (2018)

A key public health need is to identify individuals at high risk for a given disease to enable enhanced screening or preventive therapies. Because most common diseases have a genetic component, one important approach is to stratify individuals based on inherited DNA variation. 1 Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk. Although most disease risk is polygenic in nature, 2–5 it has not yet been possible to use polygenic predictors to identify individuals at risk comparable to monogenic mutations. Here, we develop and validate genome-wide polygenic scores for five common diseases. The approach identifies 8.0%, 6.1%, 3.5%, 3.2% and 1.5% of the population at greater than three-fold increased risk for coronary artery disease (CAD), atrial fibrillation, type 2 diabetes, inflammatory bowel disease, and breast cancer, respectively. For CAD, this prevalence is 20-fold higher than the carrier frequency of rare monogenic mutations conferring comparable risk. 6 We propose that it is time to contemplate the inclusion of polygenic risk prediction in clinical care and discuss relevant issues.

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Clinical use of current polygenic risk scores may exacerbate health disparities

Alicia Martin, Masahiro Kanai, Yoichiro Kamatani … (2019)

Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision medicine. However, the major ethical and scientific challenge surrounding clinical implementation of PRS is that those available today are several times more accurate in individuals of European ancestry than other ancestries. This disparity is an inescapable consequence of Eurocentric biases in genome-wide association studies, thus highlighting that-unlike clinical biomarkers and prescription drugs, which may individually work better in some populations but do not ubiquitously perform far better in European populations-clinical uses of PRS today would systematically afford greater improvement for European-descent populations. Early diversifying efforts show promise in leveling this vast imbalance, even when non-European sample sizes are considerably smaller than the largest studies to date. To realize the full and equitable potential of PRS, greater diversity must be prioritized in genetic studies, and summary statistics must be publically disseminated to ensure that health disparities are not increased for those individuals already most underserved.

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Author and article information

Contributors

Jurjen J. Luykx:

ORCID: http://orcid.org/0000-0002-6439-2774

j.luykx@umcutrecht.nl

Journal

Journal ID (nlm-ta): Transl Psychiatry

Journal ID (iso-abbrev): Transl Psychiatry

Title: Translational Psychiatry

Publisher: Nature Publishing Group UK (London )

ISSN (Electronic): 2158-3188

Publication date (Electronic): 11 October 2022

Publication date PMC-release: 11 October 2022

Publication date Collection: 2022

Volume: 12

Electronic Location Identifier: 442

Affiliations

[1 ]GRID grid.7080.f, ISNI 0000 0001 2296 0625, Sant Pau Mental Health Group, Institut d’Investigació Biomèdica Sant Pau (IBB-Sant Pau), Hospital de la Sant Creu i Sant Pau, , Universitat Autònoma de Barcelona, ; Barcelona, Catalonia Spain

[2 ]GRID grid.5841.8, ISNI 0000 0004 1937 0247, Department of Medicine, School of Medicine, , University of Barcelona, ; Barcelona, Spain

[3 ]GRID grid.10984.34, ISNI 0000 0004 0636 5254, Department of Clinical Psychiatry, School of Medicine, , University of Panama, ; Panama City, Panama

[4 ]GRID grid.428313.f, ISNI 0000 0000 9238 6887, Department of Mental Health, , Parc Tauli University Hospital, Institut d’Investigació i Innovació Parc Tauli (I3PT), Sabadell, ; Barcelona, Spain

[5 ]GRID grid.5477.1, ISNI 0000000120346234, Department of Psychiatry, Brain Center Rudolf Magnus, , University Medical Center Utrecht, Utrecht University, ; Utrecht, the Netherlands

[6 ]GRID grid.5477.1, ISNI 0000000120346234, Department of Translational Neuroscience, Brain Center Rudolf Magnus, , University Medical Center Utrecht, Utrecht University, ; Utrecht, the Netherlands

[7 ]GRID grid.491146.f, ISNI 0000 0004 0478 3153, Outpatient Second Opinion Clinic, , GGNet Mental Health, ; Warnsveld, The Netherlands

[8 ]GRID grid.10417.33, ISNI 0000 0004 0444 9382, Department of Psychiatry, , Radboud University Medical Center, ; Nijmegen, The Netherlands

[9 ]GRID grid.461871.d, ISNI 0000 0004 0624 8031, Karakter Child and Adolescent Psychiatry, ; Nijmegen, The Netherlands

[10 ]GRID grid.17091.3e, ISNI 0000 0001 2288 9830, Department of Medical Genetics, , University of British Columbia, ; Vancouver, BC Canada

[11 ]GRID grid.17091.3e, ISNI 0000 0001 2288 9830, Department of Psychiatry and Medical Genetics, Genetic Counselling Training Program, , University of British Columbia, ; Vancouver, BC Canada

[12 ]GRID grid.7692.a, ISNI 0000000090126352, Department of Clinical Genetics, , University Medical Center Utrecht, ; Utrecht, The Netherlands

[13 ]GRID grid.10698.36, ISNI 0000000122483208, Center for Psychiatric Genomics, Department of Genetics and Psychiatric, School of Medicine, , University of North Carolina at Chapel Hill, ; Chapel Hill, NC USA

[14 ]GRID grid.4714.6, ISNI 0000 0004 1937 0626, Karolinska Institute, ; Stockholm, Sweden

[15 ]GRID grid.42327.30, ISNI 0000 0004 0473 9646, The Centre for Applied Genomics, Program in Genetics and Genome Biology, , The Hospital for Sick Children, ; Toronto, ON Canada

[16 ]GRID grid.42327.30, ISNI 0000 0004 0473 9646, Department of Psychiatry, , Hospital for Sick Children, ; Toronto, ON Canada

[17 ]GRID grid.17063.33, ISNI 0000 0001 2157 2938, Department of Psychiatry, , University of Toronto, ; Toronto, ON Canada

Author information

Justo Pinzón-Espinosa http://orcid.org/0000-0002-3084-7793

Marte van der Horst http://orcid.org/0000-0001-5090-4137

Janneke Zinkstok http://orcid.org/0000-0002-5580-1898

Jehannine Austin http://orcid.org/0000-0003-0338-7055

Jacob Vorstman http://orcid.org/0000-0002-1677-3126

Jurjen J. Luykx http://orcid.org/0000-0002-6439-2774

Article

Publisher ID: 2203

DOI: 10.1038/s41398-022-02203-6

PMC ID: 9553897

PubMed ID: 36220808

SO-VID: 74a7f1f7-1c93-4b05-85a9-0e7f2a4e61ad

License:

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