Child and Adolescent Psychiatrists’ Perceptions of Utility and Self-rated Knowledge of Genetic Testing Predict Usage for Autism Spectrum Disorder

Soda, Takahiro; Pereira, Stacey; Small, Brent J.; Torgerson, Laura; Muñoz, Katrina A.; Austin, Jehannine; Storch, Eric A.; Lázaro‐Muñoz, Gabriel

doi:10.1016/j.jaac.2021.01.022

Cited by 20 publications

(18 citation statements)

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“…Key challenges to implementation of diagnostic genetic testing recommendations include inadequate medical genetics training by psychiatrists, particularly related to practical issues of test selection, results interpretation, and genetic counseling. A recent study showed that the likelihood for child psychiatrists to order genetic testing was related to the clinician's own perceived knowledge about these aspects (74). Another challenge is the lack of a unified diagnostic approach for patients with RGDs, whereby psychiatric symptoms and genetic etiology are diagnosed and managed as two entirely separate clinical realities, despite their obvious connection (75), except where specialty clinics exist (62-64) (66).…”

Section: Lack Of Routine Genetic Testing In Psychiatric Clinics (Text...mentioning

confidence: 99%

Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology

Jacquemont¹,

Huguet²,

Klein³

et al. 2022

AJP

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Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders (NPDs). In this era of intense genomics discoveries, the landscape of RGDs is rapidly evolving. However, there has not been comparable progress to date in scalable, harmonized phenotyping methods. As a result, beyond associations with categorical diagnoses, the effects on dimensional traits remain unclear for many RGDs. The nature and specificity of RGD effects on cognitive and behavioral traits is an area of intense investigation: RGDs are frequently associated with more than one psychiatric condition and those studied to date affect, to varying degrees, a broad range of developmental and cognitive functions. Although many RGDs have large effects, phenotypic expression is typically influenced by additional genomic and environmental factors. There is emerging evidence that using polygenic risk scores in individuals with RGDs offers opportunities to refine prediction, thus allowing for the identification of those at greatest risk of psychiatric illness. However, translation into the clinic is hindered by roadblocks, which include limited genetic testing in clinical psychiatry, and the lack of guidelines for following individuals with RGDs, who are at high risk of developing psychiatric symptoms. The Genes 2 Mental Health Network (G2MH) is a newly funded NIMH initiative that will collect, share and analyze large scale datasets combining genomics and dimensional measures of psychopathology spanning diverse populations and geography. We present here the most recent understanding of the effects of RGDs on dimensional behavioral traits and risk for psychiatric conditions. We discuss strategies that will be pursued within the G2MH network, and how expected results can be translated into clinical practice to improve patient outcomes.Plain Language summary 60 words. Genomic methods are widely used in psychiatric research and are recommended in clinical practice to identify rare genomic variants in patients with neurodevelopmental disorders. However, we still know very little about these variants. The mission of G2MH is to collect and harmonize clinical and genomic data on large groups of individuals who carry such rare variants to understand how they affect cognition and behavior and increase the risk for psychiatric conditions.

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Section: Lack Of Routine Genetic Testing In Psychiatric Clinics (Text...mentioning

confidence: 99%

Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology

Jacquemont¹,

Huguet²,

Klein³

et al. 2022

AJP

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“…Of the 1,180 (20.8%) who agreed to participate, 962 CAP completed the entire survey for an overall 16.9% completion rate, reflecting approximately 11.6% of CAP in current practice in the US. 29 We then excluded two CAP who did not answer the self-rated knowledge question that determined whether they received the PRS section of the survey, for a final total of 960 respondents reported here (Figure 1).…”

Section: Resultsmentioning

confidence: 99%

“…The 47-question survey (see supplementary materials) was developed based on current literature with input from an expert panel consisting of child and adolescent psychiatrists, psychologists, genetic counselors, bioethicists, lawyers, and an anthropologist using a modified Delphi method. 28 Questions specific to PRS were used to learn about CAP knowledge, experience, current and potential utility, concerns, and appropriateness of PRS screening), the results of which we present here (see Soda et al 29 for results on knowledge and perceptions of utility of genetic testing in the evaluation of autism spectrum disorder). If participants selected “I have never heard of PRS” as the response to the initial self-reported knowledge of PRS question, display logic was used to skip participants to the next section without asking additional PRS questions.…”

Section: Methodsmentioning

confidence: 99%

Psychiatric polygenic risk scores: Child and adolescent psychiatrists’ knowledge, attitudes, and experiences

Pereira

Muñoz

Small

et al. 2021

Preprint

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Objective: Psychiatric polygenic risk scores (PRS) have the potential to transform aspects of psychiatric care and prevention, but there are concerns about their implementation. We sought to assess child and adolescent psychiatrists' (CAP) experiences, perspectives, and potential uses of psychiatric PRS. Methods: A survey of 960 US-based practicing CAP. Results: Most respondents (54%) believed psychiatric PRS are currently at least slightly useful and 87% believed they will be so in five years. Yet, 77% rated their knowledge of PRS as poor or very poor. Ten percent have had a patient/family bring PRS to them, and 25% would request PRS if a patient/caregiver asked. Respondents endorsed different actions in response to a hypothetical child with a top 5th percentile psychiatric PRS but no diagnosis: 48% would increase prospective monitoring of symptoms, 42% would evaluate for current symptoms, and 4% would prescribe medications. Most respondents were concerned that high PRS results could lead to overtreatment and negatively impact patients' emotional well-being. Conclusion: Findings indicate emerging use of psychiatric PRS within child and adolescent psychiatry in the US. Thus, it is critical to examine the ethical and clinical challenges that PRS may generate and begin efforts to promote their informed and responsible use.

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“…As a result, of the majority of parents expressing interest in genetic testing, 83% report that they were not offered a referral by their doctor ( Li et al, 2016 ). Child and adolescent psychiatrists may be better placed to order genetic testing, but a 2021 US survey indicated that only 32.7% had ordered a genetic test in relation to ASD in the previous 12 months ( Soda et al, 2021 ). A mediating factor between low uptake of genetic testing and parental interest and medical guidelines recommending it is likely to be low population genetic literacy, in both families/individuals and providers.…”

Section: Introductionmentioning

confidence: 99%

“…A mediating factor between low uptake of genetic testing and parental interest and medical guidelines recommending it is likely to be low population genetic literacy, in both families/individuals and providers. Indeed, in the survey of child and adolescent psychiatrists, those who had requested genetic testing related to ASD reported higher self-rated knowledge of genetic testing and higher perceived utility of genetic testing than those who had not ( Soda et al, 2021 ). While this is to be expected perhaps, we suggest that there is work to be done in, for example, addressing the 50% or more of doctors in this survey who did not order genetic testing related to ASD even though they self-reported “good” or “very good” on both knowledge of genetic testing guidelines in psychiatry and knowledge about how to integrate genetic testing into practice ( Soda et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder

Little

Gunter

2021

Front. Genet.

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As genomic and personalized medicine is integrated into healthcare, the need for patients to understand and make decisions about their own genetic makeup increases. Genetic literacy, or one’s knowledge of genetic principles and their applications, measures an individual’s ability to apply genetic information to their own treatment. Increased genetic literacy can improve comprehension of genetic tests and therefore increase participation in testing to detect and treat genetic disorders. It can also help providers understand and explain genetic information to their patients. However, current research indicates that the population’s genetic literacy is generally low. Because many medical students, providers, and patients cannot adequately apply genetic information to their health, new and beneficial genetic technologies can be underused. More specifically, though genetic testing is recommended at the time of diagnosis for those affected by autism spectrum disorder (ASD), as few as 22% of families undergo genetic testing after diagnosis. While ASD, a neurodevelopmental condition characterized by impaired social communication and restricted interests, has both genetic and environmental risk, genetic testing can give clinicians useful information and help families avoid potentially painful and costly tests, even when many families do not receive a “positive” genetic result through microarrays or gene panels. Improving genetic literacy in populations affected by ASD can also improve attitudes toward genetic testing, thereby ensuring access to genetic health risk information. In this mini review, we discuss the current literature describing genetic literacy and genetic testing rates for ASD.

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Child and Adolescent Psychiatrists’ Perceptions of Utility and Self-rated Knowledge of Genetic Testing Predict Usage for Autism Spectrum Disorder

Cited by 20 publications

References 10 publications

Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology

Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology

Psychiatric polygenic risk scores: Child and adolescent psychiatrists’ knowledge, attitudes, and experiences

Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder

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