genetic testing for autism spectrum disorder

Rare variants or copy number variants, especially de novo variants, associated with a large risk of ASD are found in a minority of persons. Consistent with complex inheritance, both environmental risk factors and common gene variants with individually small effect size have been implicated in disease etiology. The global prevalence is about 1% and disease burden is high. Similar content being viewed by othersĪutism spectrum disorder (ASD) is defined by social communication and interaction deficits and repetitive behaviours.

These attitudes can inform development of guidelines and bioethics in the age of genomic precision medicine. Nearly half of the parents were not concerned with a “right not to know”. In sum, the findings show that most parents want to know as much as possible relevant for their children’s future health and keep their autonomy and intra-familial confidentiality about genetic risk information. In regression models, the attitudes were associated with opinions about benefits and harms of genetic testing (e.g., treatment, family planning, understanding of ASD pathology, insurance discrimination and family conflict). The majority agreed that it is an obligation to know as much as possible relevant for future health (58.0%) and only 51.7% agreed to a principle of a ‘right not to know’. Most preferred autonomy in deciding whom to inform about genetic risk of ASD (74.4%) and a minority supported extensive intra-familial disclosure of the genetic risk (41.1%). We investigated attitudes towards sharing information about genetic risk of ASD and knowledge about future health among parent members of the Norwegian Autism Association ( N = 1455) using a questionnaire, and the relationships with parent and child characteristics, such as age, gender and ASD severity.

Knowledge about the families’ preferences with regard to genetic risk information is important for both health care professionals and policy makers. Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a burden. Clinical relevance of genetic testing is increasing in autism spectrum disorder (ASD).

Genetic testing for autism spectrum disorder