Session Type: Satellite Symposium

Learning Objectives:

• Compare various methods of cytogenetic and molecular chromosomal analysis and explain the diagnostic yield of these methods in various clinical settings
• Evaluate the impact of advancing technologies on a family’s experience of learning a genetic diagnosis
• Describe the current state of FDA oversight of genetic testing
• Debate the merits of more or less regulation of emerging genetic technologies

Description:
For many families with a rare disease, a diagnosis is reached only after an arduous journey of investigations and referrals, referred to as the diagnostic odyssey.  The diagnosis of chromosomal aberrations historically has relied upon routine karyotype analysis.  Advances such as FISH analysis, chromosomal microarray analysis, and, most recently, next-generation sequencing have dramatically increased the resolution and precision of the detection of genomic aberrations, which ultimately may hasten diagnosis and potentially end the diagnostic odyssey altogether.  This session will describe the use of various cytogenetic and molecular techniques for chromosomal analysis in obstetrics and gynecology, pediatrics, and oncology with an emphasis on discussing the diagnostic yield of these techniques.  A family will tell the story of their diagnostic odyssey, highlighting the impact these technologies have on a personal level.  Finally, the current regulatory landscape of genetic testing, with regard to oversight of laboratory developed tests (LDTs) and FDA-approved test kits, will be described.  How regulators, such as the FDA, can accomplish balancing their mandate to protect the health and safety of the public with the need to allow introduction of new tests that can help diagnose patients will be discussed.

CEU Hours: 1.5
CEU Type: NSGC