This report evaluates the use of whole exome sequencing (WES) or whole genome sequencing (WGS) to inform clinical action and improve patient outcomes in adults > 18 years of age with undefined neurological phenotypes suggestive of neuromuscular disease or movement disorders who have had no definitive diagnosis following standard diagnostic tests.
Precision Medicine
The explosion of genetic and molecular medicine has produced mountains of options and evidence. Conversely, there is often an alarming lack of evidence. This is where we come in.We help you manage the flood of tests and drugs that emerge in this category daily. Accessed through the Hayes Knowledge Center, our comprehensive Precision Medicine solution focuses on thousands of genetic, genomic, and molecular diagnostic tests and precision medicine therapies addressing the questions our clients most frequently ask:
- Will testing change patient management for this indication?
- If so, what tests and/or therapies should I use?
- Should we cover testing and/or therapies?
- Can we manage these services internally?
- Precision Medicine Insights
- Precision Medicine Research Briefs
Cell-Free DNA (cfDNA) (Formerly NIPS, NIPT) Screening for Fetal Chromosomal Copy Number Variants
This report evaluates the clinical utility of cell-free DNA (cfDNA) (formerly NIPS, NIPT) screening for fetal chromosomal copy number variants (CNVs) in women with singleton or twin pregnancies.
Common Variable Immune Deficiency (CVID)
This report reviews clinical study abstracts and clinical practice guidelines addressing genetic testing for common variable immune deficiency (CVID).
TruGraf Kidney (Eurofins Transplant Genomics)
This report evaluates the analytical validity, clinical validity, and clinical utility of the TruGraf test for kidney transplant rejection.
Pharmacogenomic Testing for Attention-Deficit/Hyperactivity Disorder Treatment
This report evaluates the clinical utility of pharmacogenomic testing to inform the selection or dose of medications for individuals diagnosed with attention-deficit/hyperactivity disorder (ADHD) to improve clinical outcomes.
Comprehensive Molecular Profiling Test(s) for Solid Tumors Intended to be Used as Broad Molecular Profiling Tool to Assigned Matched Therapy
This report reviews clinical study abstracts and clinical practice guidelines addressing comprehensive molecular profiling (CMP) tests for the intended use as a broad molecular profiling tool (assessing DNA or RNA variants in > 50 genes), to identify biomarkers present in the tumor and then assign matched therapy specific to those biomarkers (may include U.S. Food and Drug Ad…
Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Rare Autosomal Trisomies
This report evaluates the clinical utility of cell-free DNA (cfDNA) (formerly noninvasive prenatal testing [NIPT] or noninvasive prenatal screening [NIPS]) screening for fetal rare autosomal aneuploidy (RAA) in women with singleton or twin pregnancies.
Tuberous Sclerosis Complex
This report reviews clinical study abstracts and clinical practice guidelines addressing genetic testing for tuberous sclerosis complex (TSC).
Pharmacogenomic Testing of Selected Mental Health Conditions
This report evaluates the clinical utility of pharmacogenomic testing to inform the selection or dose of medications for individuals diagnosed with depression, bipolar disorder, schizophrenia spectrum or other psychotic disorder, or anxiety disorder to improve clinical outcomes.
Whole Exome/Genome Sequencing for Previously Undiagnosed Pediatric Neurodevelopmental Disorders
This report evaluates the use of whole exome sequencing (WES) or whole genome sequencing (WGS) to inform clinical action and improve patient outcomes in children aged ≤ 18 years with undefined neurological phenotypes but no definitive diagnosis following standard diagnostic tests.