Health Problem: Respiratory distress syndrome (RDS) is one of the most common causes of preterm infant respiratory failure and mortality, with RDS occurring in 20,000 to 30,000 newborn infants annually in the United States. RDS results from developmental immaturity of the lungs, which leads to insufficient surfactant production and function. …
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
FoundationOne CDx (Foundation Medicine Inc.)
According to the testing laboratory, the FoundationOne CDx (F1CDx) is a companion diagnostic test used to identify patients who may benefit from treatment with Food and Drug Administration (FDA)-approved targeted therapies. Additionally, the test is intended to provide tumor mutation profiling that includes the screening of biomarkers without companion diagnostic claims. This…
Tezacaftor-Ivacaftor (Symdeko) for Treatment of Cystic Fibrosis
Health Problem: Cystic fibrosis (CF) is an autosomal recessive genetic disease due to mutations in the cystic fibrosis transmembrane receptor (CFTR) gene. The basic defect results in poor chloride and bicarbonate transport, resulting in dehydration of secretions in the lungs, pancreas, and other organs. The bronchi and lungs are affected by r…
Clinical Utility of Genetic Testing for Primary Diagnosis of Autism Spectrum Disorder
This report evaluates the clinical utility of genetic testing for autism spectrum disorder (ASD) to independently diagnose and improve outcomes in children younger than 5 years of age with suspected but not yet clinically diagnosed ASD.
Clinical Utility of Genetic Testing for Primary Diagnosis of Autism Spectrum Disorder
This report evaluates the clinical utility of genetic testing for autism spectrum disorder (ASD) to independently diagnose and improve outcomes in children younger than 5 years of age with suspected but not yet clinically diagnosed ASD.
Lumacaftor-Ivacaftor (Orkambi) for Treatment of Cystic Fibrosis
Health Problem: Cystic fibrosis (CF) is an autosomal recessive genetic disease due to mutations in the cystic fibrosis transmembrane receptor (CFTR) gene. The basic defect results in poor chloride and bicarbonate transport resulting in dehydration of secretions in the lungs, pancreas, and other organs. The bronchi and lungs are affected by re…
HLA-DQ2/DQ8 Genotyping to Rule Out Celiac Disease in Symptomatic Individuals with an Uncertain Diagnosis
This report evaluates the clinical utility for the use of HLA-DQ2/DQ8 genotyping to rule out celiac disease (CD) in symptomatic individuals with an uncertain diagnosis.
HLA-DQ2/DQ8 Genotyping in Asymptomatic Relatives of Individuals with Celiac Disease
This report evaluates the clinical utility for the use of HLA-DQ2/DQ8 genotyping in asymptomatic relatives of individuals with celiac disease (CD).
HLA-DQ2/DQ8 Genotyping to Rule Out Celiac Disease in Symptomatic Individuals with an Uncertain Diagnosis
This report evaluates the clinical utility for the use of HLA-DQ2/DQ8 genotyping to rule out celiac disease (CD) in symptomatic individuals with an uncertain diagnosis.
Nusinersen (Spinraza; Biogen) for Spinal Muscular Atrophy
Health Problem: Spinal muscular atrophy (SMA) is a recessive genetic disorder characterized by progressive proximal muscle weakness and atrophy. SMA is predominantly caused by deletions or mutations of survival motor neuron (SMN) SMN-1, which leads to degeneration of alpha motor neurons of the spinal cord anterior horn cells. This affects the…