![]() ![]() To our knowledge, there are no studies that report the rate at which further medical recommendations are made on the basis of pathogenic genetic results. Should further recommendations be frequent, this would support the current guidelines for testing, inform clinical care, and encourage third-party payer support for coverage of genetic testing in this population. ![]() Determining the rate at which genetic findings result in further medical recommendations would improve clinician and patient understanding of potential outcomes after pathogenic results. Variation in insurance coverage may occur because little is known about how often a pathogenic finding results in further clinical recommendations. Although public insurers often reimburse fully for testing, private insurer reimbursement is variable, with testing completely covered, not covered, or covered in a limited manner, resulting in out-of-pocket expense for families. In the American Academy of Pediatrics 2019 ASD clinical guidelines, genetic testing is recommended for all children with ASD.ĭespite clinical recommendations to complete genetic testing in individuals with ASD, insurance coverage varies. 9 Although the percentages are not high, the yield is relatively high for a behaviorally diagnosed disorder without a clear biomarker or diagnostic test. 9 These recommendations were based on reported pathogenic yield for these tests, ∼10% for CMA and 1% to 5% for fragile X. 5– 8 The American College of Medical Genetics guideline recommends chromosomal microarray (CMA) for all patients with ASD and fragile X testing in boys. However, these known disorders account for a small proportion of overall ASD cases. 2– 4 Certain genetic syndromes have an increased rate of co-occurring ASD, including fragile X, tuberous sclerosis, and Rett syndrome, among others. 1 ASD is heritable, with a high rate of concordance of diagnoses in monozygotic twins and increased rates among siblings. Autism spectrum disorder (ASD) is marked by deficits in social communication and the presence of restricted and repetitive behaviors. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |