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...

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

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

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...

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...

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...

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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...