Several large scale national studies have been launched to collect phenotypic and genomic data on large populations. These studies will form the basis for future...

The “Matchmaker Exchange” was launched in 2013 in order to facilitate the process of matching a patient with a rare disease and a candidate gene to another to identify...

This two-part presentation discusses the impact of both germline and somatic genomic testing in clinical oncology. It provides clinicians with a broad overview of...

Prenatal cell-free DNA screening (or cfDNA screening, often referred to as NIPT or noninvasive prenatal testing) is an increasingly popular and valuable tool for...

Genetic testing in a pediatric environment poses unique challenges with respect to age of disease onset, when to test, patient autonomy, etc., and many primary care...

Transform your college classroom into a student-centered learning environment.

Learning Objectives: 1. Interpret the essential elements of a family history that indicate genetic testing. 2. Appropriately determine when and which patients need...

Learning objectives: 1. Discussion of what metrics and measures are useful in assessing the validity and quality of data coming off NGS platforms. 2. Apply...

Learning objectives: 1. Engage the genetics community in discussions around technical issues related to NGS diagnostic testing, including gaining a better...