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.

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Chromosomal Copy Number Variants

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal chromosomal copy number variants (CNVs) in women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening for common trisomies in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA studies published in high-risk populations. In a…

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Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Sex Chromosome Aneuploidy

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for sex chromosome aneuploidies (SCAs) in women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening for common trisomies in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA studies published in high-risk populations. In addition, so…

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Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Trisomy 21, 18, and 13 in Low-Risk Women

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal trisomy 21, 18, and 13 in low-risk women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA screening studies published in high-risk populations. Some professional socie…

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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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