Plenary Lecture 7 - Herbert H. Thomas Lecture: Preconception, Preimplantation, and Prenatal Genomic Medicine

Date:October 22, 2014

Time:9:00 am - 9:45 am

Location:HCC Ballroom - Hawaii Convention Center


David H. Ledbetter, Ph.D., Geisinger Health System


Endowed by a 1990 grant from TAP Pharmaceutical

Needs Assessment and Description
As the price of DNA sequencing and associated analysis continues to drop, whole exome or whole genome sequencing increasingly will enter routine clinical settings, including preconception evaluation and counseling, infertility, prenatal screening and diagnosis, newborn screening, newborn intensive care evaluations, and other early pediatric cohorts. This session for clinicians and researchers involved in infertility care will provide an update on the status of the clinical utility and value of these technologies with an emphasis on implications of reproductive planning and management from patient and provider perspectives. 

Learning Objectives
At the conclusion of this session, participants should be able to: 

  1. Discuss current performance capabilities and costs of genome sequencing technologies and appropriate applications in research vs. clinical settings today. 
  2. Summarize contributors to clinical variability in phenotypic expression of specific genetic disorders, including copy number variants and single gene disorders, in relation to the classic genetic concepts of penetrance and variable expressivity. 
ACGME Competency
Medical Knowledge
Practice-based Learning and Improvement 

A couple comes to see you for evaluation of infertility, and upon family history, you learn that the female’s brother has a son with clubfoot, microphthalmia, and a heart defect. His geneticist ordered whole exome sequencing (WES), and the patient comes back to discuss the results with you. After participating in this session, in my practice I will tell the patient the following regarding WES:
a. WES is a reliable method to identify copy number variants.
b. WES cannot be informative unless available family members are studied.
c. WES will identify a causative mutation in nearly all patients studied.
d. WES will permit analysis of only the genes of interest.
e. WES covers only a small percentage of the entire genome.
f. Not applicable to my area of practice


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