FEB 23, 2017 10:30 AM PST

Clinical Whole Genome Sequencing In a Healthy Population

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  • Clinical Head, Healthy Genome Initiatives, Staff Genetic Counselor, Applied Genomics
      Erica Ramos, MS, LCGC is the Clinical Head for Illumina's "Healthy Genome Initiatives" team and President-Elect for the National Society of Genetic Counselors, the leading professional organization for genetic counselors more than 3500 members strong. After 11 years in patient care, Ms. Ramos joined Illumina in the Clinical Services Laboratory, where she managed the clinical group that implemented interpretation and reporting processes for clinical whole genome sequencing (cWGS). Currently, she focuses on advancing the use of cWGS by providing access and education to healthy individuals through the Understand Your Genome program, MyGenome visualization software and other collaborations. Her focus on education extends to genetic counseling students and she is an Adjunct Professor in the Genetic Counseling Department at Augustana University. She also tweets from @ERamosSD about genomics and genetic counseling, music, travel and other interests.


    Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of genomics in healthcare has historically centered around diagnosis of disease, the desire to apply genomics to risk assessment and disease prevention is growing. In the context of an educational program called Understand Your Genome, Illumina has offered cWGS in an ostensibly healthy population since 2012. To date, more than 1300 adults have been sequenced as part of this program, which has generated data about the motivations of this population, what medical findings can be seen in a generally healthy adult population and the value of genome sequencing over time. 

    Learning Objective 1: Analyze the benefits of sequencing a healthy population, for the individual and for the contribution to genomics knowledge

    Learning Objective 2: Identify the frequency of findings expected to be of clinical significance in a healthy adult

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