Potential Benefits of Establishing a Genetic Etiologic Diagnosis

• Improving accuracy of counseling provided to patients and families:
 o Prognosis or expected clinical course
 o Recurrence risk for the family and the individual affected
• Providing condition-specific family support, such as:
 o Improving psychosocial outcomes for patients and their families (eg, knowledge and sense of empowerment, parental quality of life)
• Preventing morbidity and treating medical conditions associated with the genotype, such as:
  o Conditions or anomalies likely to be present at diagnosis
  o Conditions that may develop later
• Refining treatment options, including:
  o Avoiding therapeutic interventions that may be based on unfounded etiologic theories
  o Avoiding ineffective or potentially harmful treatments
  o Providing access to emerging etiology-specific treatments
• Facilitating acquisition of needed services and access to research treatment protocols
• Avoiding additional diagnostic tests, which may be unnecessary, expensive, and/or uncomfortable
  • Adapted from Sun F, Oristaglio J, Levy SE, et al. Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder. Rockville, MD: Agency for Healthcare Research and Quality (US); 2015; Amiet C, Couchon E, Carr K, Carayol J, Cohen D. Are there cultural differences in parental interest in early diagnosis and genetic risk assessment for autism spectrum disorder? Front Pediatr. 2014;2:32; Srivastava S, Cohen JS, Vernon H, et al. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014;76(4):473–483; Iglesias A, Anyane-Yeboa K, Wynn J, et al. The usefulness of whole-exome sequencing in routine clinical practice. Genet Med. 2014;16(12):922–931; Lingen M, Albers L, Borchers M, et al. Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life. Clin Genet. 2016;89(2):258–266; Riggs ER, Wain KE, Riethmaier D, et al. Chromosomal microarray impacts clinical management. Clin Genet. 2014;85(2):147–153; and ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015;17(6):505–507.