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.

Genetic Testing for Fragile X−Associated Tremor/Ataxia Syndrome (FXTAS)

This report evaluates the clinical utility of genetic testing for fragile X−associated tremor/ataxia syndrome (FXTAS). The goal of this report is to assess how genetic testing of men and women with clinical and/or radiologic features suggestive of FXTAS changes patient outcomes, alters diagnostic thinking, results in decision-making guidance, and/or leads to familial and societal impacts.

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Next-Generation Sequencing (NGS) for Antimicrobial Resistance Profiling of Pathogens in Infections

The morbidity and mortality associated with chronic and acute infections are substantial, and antimicrobial-resistant pathogens are a global threat. Although there are numerous methods that can be used to evaluate the resistance profile of these pathogens, these methods are often time-consuming, may be inaccurate, and/or fail to provide sufficient information for the clinical management of ind…

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Genetic Testing for Fragile X Syndrome

This report evaluates the clinical utility of fragile X syndrome (FXS) genetic testing. The evidence is considered for use of genetic testing to diagnose individuals with suspected disease; carrier testing for women with and without a family history of intellectual disability (ID), developmental delay, autism spectrum disorder (ASD), and FXS; prenatal testing for at-risk pregnancies; and newbo…

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Genetic Testing for PTEN Hamartoma Tumor Syndrome (PHTS)

This report examines the clinical utility of PTEN genetic testing of patients at risk for, or diagnosed with, PTEN hamartoma tumor syndrome (PHTS) based upon clinical symptoms, with or without a family history suggestive of PHTS. The goal of this report is to assess how genetic testing of patients meeting this criteria changes patient management, informs tre…

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The Clinical Utility of Genetic Testing for Hereditary Breast and Ovarian Cancer in Patients with a Personal History of Breast and/or Ovarian Cancer and a Suggestive Family History

This report examines the clinical utility of genetic testing for germline variants in patients with a personal history of breast and/or ovarian cancer and a family history suggestive of hereditary breast and ovarian cancer (HBOC). This report provides an assessment of the evidence for the use of genetic testing in this patient population. The goal of the report is to assess ho…

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