Genetic Testing For Autism Spectrum Disorder Research Articles

Parental Perspectives on Early Life Screening and Genetic Testing for ASD: A Systematic Review.

Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental condition for which no prenatal or early life screening tests exist. Early life recognition of ASD is key to accessing behavioral intervention when brain plasticity is at its peak. The purpose of our study was to systematically review the literature researching parental perspectives around early life screening for autism and specifically genetic testing. A total of 30 studies were included and coded against the following variables: parental characteristics, child characteristics, research design, data collection and data analysis methods, type of early screening, and parental perspectives towards early life screening and genetic testing. The outcomes of the review showed that caregivers need more knowledge about ASD genetic testing, they are in general in favor of early life screening, and they prefer to access ASD genetic testing and early behavioral intervention as early as possible. As emerging genetic tests are likely to increase diagnostic accuracy for ASD in the near future, it is of paramount importance for research and practice to embrace parental needs and preferences. Healthcare providers can be pivotal in empowering parents to make informed decisions through clear, compassionate communication and counseling. Future research should seek to fill in an essential gap in the literature, which is to capture parental views from a diverse population.

PRECISION MEDICINE AND GENOMICALLY GUIDED TREATMENT IN AUTISM SPECTRUM DISORDER: ARE WE THERE YET?

Genetic factors make up a large proportion of autism spectrum disorder (ASD) liability, and guidelines recommend genetic testing for all youth with ASD. However, the practicalities of how to implement and interpret this testing are not always clear. This series of talks will be able to answer some of these questions. In highlighting recent work they and others have conducted, the speakers will provide some context and guidance regarding 5 relevant aspects of genetic testing for ASD: 1) how to implement it in an inpatient setting; 2) how to implement it in an outpatient setting; 3) how and when to order pharmacogenomic testing; 4) what to do when a patient’s genetic test comes back positive for a single-gene change; and 5) the role that genetic copy number variation may play in defining and understanding ASD subtypes. In a series of brief talks, 5 speakers will describe different aspects of the state of knowledge regarding genetic testing in ASD. Afterwards, an independent discussant will reflect on the material presented, relating it to his own expertise and experience. In an inpatient setting, medical genetics education for child and adolescent psychiatry fellows may improve genetic testing rates. In the outpatient clinic, numerous parallel strategies, including administrative support, agreements with genetic testing providers, and a dedicated genomic psychiatry consult service, all may increase the rate at which genetic tests are ordered. Pharmacogenomic testing in ASD is supported by limited evidence, and broad genetic screening is not warranted currently, although current commercial testing may yield clinically actionable information. Several single-gene changes associated with ASD may have implications for clinical treatment. Copy number variants with distinct presentations may serve as models for meaningful ASD subtypes. The presentations and subsequent discussion will provide attendees with up-to-date knowledge regarding genetic testing in ASD, much of which will be directly applicable to their clinical practice.

Psychometric Properties of the POAGTS: A Tool for Understanding Parents' Perceptions Regarding Autism Spectrum Disorder Genetic Testing.

Due to the increased prevalence of Autism Spectrum Disorder (ASD), more children with ASD may be referred for genetic testing. It is important to develop a tool to help parents consider the benefits and drawbacks of genetic testing for ASD before pursuing genetic testing for children with ASD. We developed the first theory-based survey—Perceptions of ASD Genetic Testing Survey (POAGTS), as a tool to assist healthcare providers to better understand parents’ perceptions and concerns regarding ASD genetic testing. The psychometric properties of POAGTS were first pre-tested and then formally tested with 308 parents of children with ASD who had not decided whether to pursue genetic testing for their children diagnosed with ASD. Findings suggest that the eight scales of the POAGTS were psychometrically sound, and had acceptable data reliability and validity. Additional research with various samples, such as parents of children with ASD who belong to diverse racial/ethnic and socioeconomic groups, is warranted in the future to determine whether the POAGTS is applicable to these particular groups. Condensing and refining this tool to a shorter, more user-friendly version is also recommended for future research.

Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.

The genetics care pathway experienced by families affected by autism spectrum disorder (ASD) around the time of diagnosis is currently uncharacterized and potentially variable across contexts. The lack of consensus on outcome measures to capture the impact of genetic services for these families shows a gap in understanding and optimizing this genetics care pathway. The Genetic Counseling Outcome Scale (GCOS‐24) is a validated outcome measure of clinical genetics services. The current study aims to adapt and validate the GCOS‐24 as an outcome measure in the context routine genetic testing in ASD and related conditions. Families seen for their child’s developmental evaluation for ASD and related conditions were invited to participate in a genomics cohort between 2016 and 2018. Families (n = 111) completed the mGCOS‐24 (modified GCOS‐24), adapted from the original GCOS‐24 by clinicians working in the target population’s routine care pathway. The mGCOS‐24 has acceptable internal consistency (Cronbach’s α = 0.84) and high test–retest reliability (ICC = 0.88). It also inversely correlates with stress as measured by Perceived Stress Scale (PSS‐10) and distress, as measured by the Distress Thermometer, rs ≥ 0.39, ps < 0.001. The mGCOS‐24 had adequate readability, as supported by cognitive interviews completed by a sub‐sample of five mothers of a child with ASD. Together, our findings show that the mGCOS‐24 has good validity for the target population. Preliminary characterization of the genetics care pathway in this population revealed remarkable variability in pre‐test counseling and limited post‐test counseling. The use of the mGCOS‐24 as an outcome measure is useful in filling some of these gaps by offering a way to assess, and in the future, optimize the genetics care pathway for families affected by autism and related neurodevelopmental conditions.

Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group.

Recent discoveries have improved our understanding of the complex genetic mechanisms underlying autism spectrum disorder (ASD). Despite current guidelines, genetic testing for children with ASD is largely underutilized. This has been attributed to a lack of public awareness regarding genetic testing. The role that autism support groups play in this awareness has not been previously described. A web-based survey was developed and distributed through a community support group to assess the awareness and utilization of genetic testing among caregivers for children with ASD. A total of 138 caregivers responded in total. Only 53.6% were aware that genetic testing exists for ASD. Genetic testing was completed in 17.4% of respondents. Rates of awareness were similar across demographic factors including race, family income, education level, and urban, suburban, or rural residence. This supports low awareness as a key factor in the underutilization of genetic testing for ASD, even among members in an organized autism support group. Targeting public awareness through these organizations may be a promising approach for improving the utilization of genetic testing in ASD.

Overview and Introduction to Autism Spectrum Disorder (ASD).

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder generally manifesting in the first few years of life and tending to persist into adolescence and adulthood. It is characterized by deficits in communication and social interaction and restricted, repetitive patterns of behavior, interests, and activities. It is a disorder with multifactorial etiology. In this chapter, we will focus on the most important and common epidemiological studies, pathogenesis, screening, and diagnostic tools along with an explication of genetic testing in ASD.

Letter re: The autism "epidemic": Ethical, legal, and social issues in a developmental spectrum disorder.

Graf et al.1 wrote an interesting review on autism spectrum disorder (ASD), emphasizing the term “autism epidemic,” supported by an editorial.2 Among other factors, increasing ASD diagnoses can be attributed to broader diagnostic criteria and the recognition of ASD existence differentiated from other neurodevelopmental diseases.2–4 One important issue, defended by the authors, is early screening and diagnosis with emphasis on the evolving practice of genetic testing for ASD.1

Mothers' appreciation of chromosomal microarray analysis for autism spectrum disorder.

The aim of this study was to examine mothers' experiences with chromosomal microarray analysis (CMA) for a child with autism spectrum disorder (ASD). This is a descriptive qualitative study using thematic content analysis of in-depth interview with 48 mothers of children who had genetic testing for ASD. The principal theme, "something is missing," included missing knowledge about genetics, information on use of the results, explanations of the relevance to the diagnosis, and relevance to life-long care. Two subordinate themes were (a) disappreciation of the helpfulness of scientific information to explain the diagnosis, and (b) returning to personal experience for interpretation. The test "appreciated" in value when results could be linked to the phenotype.

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which presents a substantial challenge to diagnosis and treatment. Over the past decade, considerable progress has been made in the identification of genetic risk factors for ASD that define specific mechanisms and pathways underlying the associated behavioural deficits. In this Review, we discuss how some of the latest advances in the genetics of ASD have facilitated parsing of the phenotypic heterogeneity of this disorder. We argue that only through such advances will we begin to define endophenotypes that can benefit from targeted, hypothesis-driven treatments. We review the latest technologies used to identify and characterize the genetics underlying ASD and then consider three themes-single-gene disorders, the gender bias in ASD, and the genetics of neurological comorbidities-that highlight ways in which we can use genetics to define the many phenotypes within the autism spectrum. We also present current clinical guidelines for genetic testing in ASD and their implications for prognosis and treatment.

Genetic risk in autism: new associations and clinical testing

Autism spectrum disorder (ASD) is prevalent in ∼ 1% of the population worldwide. It is also understood, through twin studies, that ASD has a heritability of 70 - 90%. Molecular genetic studies have presented some genetic risk factors associated with ASD that have potential implications in its diagnosis and genetic testing. In this selective review, the author refers to previous systematic reviews that consecutively cited all the published papers on ASD at that time. The article presents the replicated genetic risk factors for ASD and the clinical relevance of these findings focusing on rare copy number variations and single gene mutations. The author provides the reader with a deeper insight into the complexity of ASD genetics and its implications for diagnostic genetic testing in ASD. The author also provides the reader with an algorithm for clinical genetic testing in individuals who are clinically diagnosed with ASD. Despite the high heritability of ASD and several replicated genetic risk factors, there is no clinical genetic test available that covers most genetic risk factors. Also, validity analyses on most available genetic testing procedures have not been performed so far. The variable risk genotypes, as well as related strongly variable phenotypes, have to be taken into account by genetic counseling.