Plenary Lecture 7 - Herbert H. Thomas Lecture: Preconception, Preimplantation, and Prenatal Genomic Medicine
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
At the conclusion of this session, participants should be
- Discuss current performance capabilities and costs
of genome sequencing technologies and appropriate
applications in research vs. clinical settings today.
- 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.
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
b. WES cannot be informative unless available family
members are studied.
c. WES will identify a causative mutation in nearly all
d. WES will permit analysis of only the genes of interest.
e. WES covers only a small percentage of the entire
f. Not applicable to my area of practice