MAY 11, 2016 12:00 PM PDT

Implementing Longitudinal Clinical/Whole Genome Research

C.E. Credits: CEU
  • Benjamin D Solomon, MD

    Chief, Division of Medical Genomics, Inova Translational Medicine Institute, Associate Professor, Virginia Commonwealth University School of Medicine


Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have been approached in a largely theoretical manner.  To address this knowledge gap, we describe our experience and preliminary results after implementation of several longitudinal genome-based studies.

We are approximately five years post-initiation of studies; the initial goal for the main study is 5,000 trio-based families.  This study focuses on trio-based whole-genome sequencing (WGS) and related ‘omics.  We enroll in the 2nd trimester via 5 obstetric clinics.  We perform WGS from samples taken concurrently with routine newborn screening (infant) and as part of prenatal care (parents).  We follow participants longitudinally to investigate the causes of a variety of conditions and to determine best practices for prospective genomic medicine.  All data and analysis are cloud-based, allowing storage and management of petabytes of data while maximizing security.  We gather data into a unified system by collecting standard HER information, and combine these data with study-specific data.  To address study needs and provide services for our healthcare system, we have built a dedicated clinical genomics unit.  In addition to our large study, we have smaller studies that focus on unearthing Mendelian explanations.

Over 3000 participating parent-infant trios have been enrolled to date (~60 new families/month). The participation rate of eligible, approached families is ~35%.   Our study-specific survey return rate is ~84% per month.  Our cohort is extremely diverse, which has enabled us to construct population-specific algorithms for the filtering of variants.  We describe a number of Mendelian and non-Mendelian case studies to illustrate our findings.

Learning Objectives:

  • Understand the resources required to initiate longitudinal genomic studies within an active healthcare system.
  • Describe examples of Mendelian genomic findings through a disease-focused study.
  • Describe examples of analyses focused on complex diseases as well as more basic genomic hypotheses.

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MAY 11, 2016 12:00 PM PDT

Implementing Longitudinal Clinical/Whole Genome Research

C.E. Credits: CEU

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