This report examines the clinical utility of genetic testing for hereditary hemorrhagic telangiectasia (HHT) in pediatric and adult patients who are symptomatic for HHT and/or have a family history of HHT. The evidence for the use of genetic testing is evaluated in symptomatic and asymptomatic individuals wi…
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.
CD40LG Gene Variant Testing for Diagnosis and Management of X-Linked Hyper-IgM Immunodeficiency Syndrome Type 1 (HIGM1)
This report examines the clinical utility of CD40LG genotyping for confirming a diagnosis of X-linked hyper-IgM (immunoglobulin M [IgM]) immunodeficiency syndrome type 1 (HIGM1) in patients with a clinical presentation of HIGM1; and for testing family members of a known HIGM1 proband for CD40LG variants to reduce…
The Clinical Utility of Genetic Testing for Hereditary Breast and Ovarian Cancer in Patients with no Personal History of Cancer and a Suggestive Family History
This report examines the clinical utility of genetic testing of unaffected individuals at risk for hereditary breast and ovarian cancer syndrome due to family history. This report provides an assessment of the evidence for the use of genetic testing in this population. The goal of the report is to assess how gene…
Whole Genome Sequencing (WGS) in Neonatal and Pediatric Patients
This report examines the clinical utility of whole genome sequencing (WGS) in neonatal and pediatric populations. Given the recent emergence of the technology, there is considerable interest in its clinical use and ability to identify deleterious variants not always identified through traditional diagnostic metho…
Genetic Testing for Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
This report examines the clinical utility of genetic testing for diagnosis of hereditary leiomyomatosis and renal cell cancer (HLRCC) in symptomatic patients and their at-risk family members. The evidence for the use of genetic testing is evaluated with respect to screening for potential HLRCC patients, renal cancer surveillance and early detection, and the fertility impact of and morbidity fr…
SLCO1B1 Pharmacogenomic Genotyping for Statin Dosing or Selection
This report examines the clinical utility of genotyping for SLCO1B1 variants in pediatric or adult patients needing treatment with a statin to reduce low-density lipoprotein cholesterol. The evidence for the use of genetic testing is evaluated with respect to selecting statin type or dose in order to improve statin prescribing and patient adherence, and to avoid adverse events such as s…
Whole Exome Sequencing for Neurological Conditions in Pediatric Populations
With the recent advances in whole exome sequencing (WES) technologies, there has been considerable interest in its clinical application. This report assesses the evidence for the use of WES for neurological conditions in pediatric populations after standard diagnostic and genetic tests failed to provide a definitive diagnosis. The goal of the report is to assess the clinical utility of WES, in…