Genetic counseling and ethical issues for autism

Department of Pediatrics, University of Utah, Salt Lake City, Utah, United States
American Journal of Medical Genetics Part C Seminars in Medical Genetics (Impact Factor: 3.91). 02/2006; 142C(1):52-7. DOI: 10.1002/ajmg.c.30082
Source: PubMed


Exciting progress is being made in the journey toward discovery of genes conferring risk for autism and autism spectrum disorders. Currently, genetic counseling for idiopathic autism rests on clinical diagnosis and empiric risk estimates. While no genetic test for risk of autism currently exists, it is possible that such a test may emerge in the near future, and that commercial availability may precede adequate understanding of test characteristics. The complexity of multifactorial conditions like autism raises a host of ethical and counseling challenges. For families to benefit from new genetic knowledge about autism, it will be important for their practitioners to be knowledgeable about the issues, utilize appropriate educational interventions and emerging management options, and help families across the cultural spectrum cope with these challenges.

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    • "Despite participant expectations, an explanation that such research will not help with any therapeutic interventions, at least in the relatively short term, is important. To date, the reason for the lack of clarity in prognosis relates to the complex nature of aligning genes with the behavioral symptoms of ASD, which also limits the development of a clinically valid genetic test (McMahon et al., 2006). "
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    ABSTRACT: Purpose: To present the current state of the evidence regarding translation of genetics (the study of single genes) and genomics (the study of all genes and gene-gene or gene-environment interactions) into health care of children with autism spectrum disorder (ASD). Methods: This article presents an overview of ASD as an international health challenge, the emerging science related to broad diagnostic criteria, and the role of the nurse in research, education, and practice. Findings: Much progress is being made in the understanding of genetics and genomics of ASD. Environmental factors are thought to contribute to the risk of developing ASD by interacting with a number of genes in different ways, thus suggesting causal heterogeneity. The rising identified prevalence of ASD, the changing diagnostic criteria for ASD, and the complexity of the core and associated features have made it difficult to define the ASD phenotype (observable behaviors that result from gene-environment interaction). Because early identification improves opportunities for intervention, researchers are looking for a useful biomarker to detect ASD. This search is complicated by the likelihood that there are multiple causes for multiple expressions that are defined as the autism spectrum. Conclusions: To date, genetic and genomic research on ASD have underscored the complexity of the causes of ASD indicating that there are very complex genetic processes involved that are still not well understood. Clinical Relevance: Nurses will benefit from new knowledge related to early identification, diagnosis, and implications for the family to promote early intervention. Families who have a child with ASD will require nursing support for advocacy for optimal health outcomes.
    Journal of Nursing Scholarship 01/2013; 45(1). DOI:10.1111/j.1547-5069.2012.01483.x · 1.64 Impact Factor
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    • "The limited clinical validity of genetic testing for autism and the related ethical concerns have been delineated in detail [54]. It seems of particular relevance to keep in mind the complex genetics and uncertainty principle as well as the right of the individual and the family not to participate in genetic testing. "
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    ABSTRACT: Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy number variations in AD. An extensive literature search in the PubMed database was performed to obtain English published articles on genetic findings in autism. Results of linkage, (genome wide) association and cytogenetic studies are presented, and putative aetiopathological pathways are discussed. Implications of the different genetic findings for genetic counselling and genetic testing at present will be described. The article ends with a prospectus on future directions.
    European Child & Adolescent Psychiatry 11/2009; 19(3):169-78. DOI:10.1007/s00787-009-0076-x · 3.34 Impact Factor
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