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 Familial Hemiplegic Migraine (FHM)

This report evaluates the clinical utility of genetic testing for familial hemiplegic migraine (FHM) in symptomatic individuals who meet clinical diagnostic criteria for FHM and for asymptomatic family members who have a relative with FHM and a known pathogenic variant.

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Rare Autosomal Trisomies

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for rare autosomal trisomies 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, some profess…

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…

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…

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…

Genetic Testing to Predict Allopurinol Toxicity

This report examines the clinical utility of genetic testing of the HLA-B*58:01 variant in patients needing treatment with allopurinol to reduce the production of uric acid. The evidence for the use of genetic testing is evaluated with respect to changing allopurinol dose or changing to another drug in ord…