Clinical Utility Evaluations

Clinical Utility Evaluations are comprehensive health technology assessments for complex genetic disorders and syndromes, which evaluate the impact of genetic testing on patient outcomes, diagnostic thinking, clinical decision making, and family members. These reports include the Hayes Clinical Utility Score, an overall rating of the strength and direction of the body of evidence for clinical utility of genetic testing for a specific indication.

Clinical Utility Evaluations provide evidence-based support for the development of coverage policy, utilization management, and evidence-based clinical practices. Used in conjunction with our Laboratory Insights database, these reports provide the critical evidence context to make decisions around multi-gene panel tests. Reports are reviewed annually up to 5 years post publication to determine if there is new literature or evidence that would impact a change in rating and warrant an updated report.

Clinical Utility of Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) in Patients with Intellectual Disability (ID)

This report evaluates the clinical utility of whole genome sequencing (WGS) and whole exome sequencing (WES) in patients with a primary phenotype of intellectual disability (ID). In general, ID may be associated with other neurological disorders, various genetic syndromes, and autism spectrum disorders. However, this report focuses on patients whose primary phenotype of conce…

Prenatal Whole Genome Sequencing and Prenatal Whole Exome Sequencing

This report evaluates the clinical utility of prenatal whole genome sequencing and prenatal whole exome sequencing to improve diagnosis and inform pregnancy and post-pregnancy patient management where fetal abnormalities have been detected by ultrasound or other testing.