Utilization of genetic services in autism spectrum disorders: A need for increased awareness and updated practice guidelines.

摘要

Currently, a small but significant portion of autism spectrum disorders (ASD) has been shown to be associated with known genetic syndromes. Advances in molecular diagnostic technologies will potentially identify additional associated genes. There is little published data addressing the use of genetic evaluations by families of individuals with ASD (IWASD). A PUBMED literature review and a parent survey were used to determine the degree of consistency that exists between published empirical data and established medical guidelines and to ascertain the extent to which families with IWASD are accessing genetic services. Results of the study demonstrated that IWASD may receive minimal genetic services, yet there is data to support increased genetic testing within this population. Discrepancies between clinical studies and established practice guidelines highlight the need for updated practice guidelines and increased education in order to develop a unified standard of care to ensure that all IWASD receive appropriate genetic services.