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Genetic Testing in the Diagnostic Odyssey The Difference You Make

From the 2019 Joint Annual Meeting (June 25, 2019)
Presented by Sarah Barnett, MS, CGC
The diagnostic odyssey can be long and stressful for patients and families. Finally receiving a diagnosis is often a relief, even when the diagnosis may be super rare and have no treatment. This presentation will tell the story of several patients and how their lives were touched by clinical whole exome sequencing and other exploratory genomic technologies.

LEARNING OBJECTIVES
At the conclusion of this presentation, participants will be able to

  1. Define whole exome sequencing (WES) and how it differs from other genetic testing options
  2. Discuss several ways in which whole exome sequencing may provide value to the patient and family
  3. Summarize limitations of this testing methodology and discuss other testing that may be available when patients remain undiagnosed

CE ACCREDITATION
This recorded presentation is P.A.C.E. ® accredited. The instruction level for this activity is Intermediate. One (1) P.A.C.E. ® contact hour and one (1) Florida credit hour in the area General (Cytogenetics) will be awarded to participants. ASCLS P.A.C.E.® is accepted by the ASCP/ASCLS/AGT Board of Certification and all states, including Florida and California, as an approved provider of continuing education for recertification and licensure. ASCLS is an approved provider with CE Broker for Florida licensees.

LEVEL OF INSTRUCTION
This intermediate-level program is appropriate for laboratory professionals working in clinical, public health and academic settings.