Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

Mutations in the BRCA1 and/or BRCA2 genes (BRCAm) increase the risk of developing
breast cancer (BC) and are found in~ 5% of unselected patients with the disease. BC …

Background: The cost-effectiveness of screening the US population for Centers for Disease
Control and Prevention (CDC) Tier 1 genomic conditions is unknown. Objective: To estimate …

Predictive genetic testing can provide information about whether or not someone will
develop or is likely to develop a specific condition at a later stage in life. Economic …

Population genomic screening to detect carriers of rare monogenic variants for medically
actionable conditions is supported by substantial evidence of clinical utility and cost …

Background Population genomic screening for familial hypercholesterolemia (FH) in
unselected individuals can prevent premature cardiovascular disease. Objective To estimate …

Applications of genomics to population screening are expanding in the United States and
internationally. Many of these programs are being implemented in the context of healthcare …

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention
at the population level given the ongoing under-ascertainment of high-risk and actionable …

Introduction: DNA-based population screening has been proposed as a public health
solution to identify individuals at risk for serious health conditions who otherwise may not …

The cost-effectiveness of conventional population-based breast cancer screening strategies
(eg mammography) has been found controversial, while evidence shows that genetic testing …