Page 130 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
119
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INVITED AND PLATFORM SESSIONS
Saturday, November 10
8:55
AM
–9:20
AM
SESSION 72 – ASHG Curt Stern Award Presentation
Hall D, Lower Level North, Moscone Center
The Curt Stern Award is given annually by ASHG in
recognition of major scientific achievement in human
genetics that has occurred in the last 10 years.
The work could be a single discovery or a series of
contributions on similar or related topics. This Award
honors the memory of Dr. Curt Stern (1902-1981), an
outstanding pioneer in human genetics who served as
ASHG president in 1956.
Introduction
:
Evan Eichler, Univ. of Washington
Recipient:
Jay A. Shendure, MD, PhD
Assoc. Prof., Dept. of Genome
Sciences, Univ. of Washington
Dr. Shendure was selected for his outstanding
contributions to the broad development and
application of exome sequencing and its truly
revolutionary effects on human genetics, as well as for
the development of methods for high-throughput
functional analysis of non-coding areas of DNA. This
work has been - and will continue to be - of great
impact to human disease gene discovery and
understanding in clinical genetics. Importantly, these
contributions have permitted individual (particularly
small) clinical and laboratory groups to make
significant contributions to our understanding of
disease. Most recently, Dr. Shendure and colleagues
non-invasively sequenced the whole genome of a
fetus, using DNA from the blood of the mother and the
saliva of the father. This work will lead to major
changes in prenatal diagnosis as the field moves
toward non-invasive yet comprehensive testing. Dr.
Shendure is one of the most promising young
scientists in our genetics community. He will certainly
continue to lead the way in developing techniques that
will have great impact on patients.
Past Recipients: David Altshuler (2011); Vivian Cheung
(2010);
David Haussler and James Kent (2009); Evan
Eichler (2008); Jeffrey Murray (2007); Hal Dietz (2006);
Patrick Brown (2005); Neil Risch (2004); David Page
(2003);
James Lupski (2002); Daniel Pinkel and Joe
Gray (2001).
Saturday, November 10
9:40
AM
–11:40
AM
Concurrent Invited Session III (73-80)
SESSION 73 – Returning Results from Large-Scale
Sequencing: Where the Rubber Meets the Road
Gateway Ballroom 103, Lower Level South, Moscone
Center
Moderators
:
Leslie G. Biesecker, NHGRI/NIH; Robert
C. Green, Brigham and Women’s Hosp.
Medicine is on the brink of a revolution, as large-scale
medical sequencing (LSMS) is now available for
patient care, marking the dawn of genomic medicine.
LSMS may be used in patients with a family history or
symptoms of a disease for diagnosis or to predict
future health risks for prevention and surveillance.
Developing standards and procedures for the use of
LSMS in clinical medicine is critical and there is a
need for empiric data to determine how to interpret,
analyze, and return results. A critical question is how
to handle secondary findings from LSMS. Speakers in
this session will share their pioneering research
initiatives that explore the translation of LSMS into
meaningful clinical information and the delivery to
patients. The speakers will report on a range of
studies, including patients ascertained with diseases,
healthy volunteers, adults, and children, research
versus clinical, and rare versus common disease. All of
the speakers will focus on results, and not just
opinions, to inform the practice of genomic medicine
and future research studies on the return of results. Dr.
Biesecker will introduce the session and present
ClinSeq, a large cohort LSMS study with return of
results to subjects. Dr. Green will present the results of
two efforts to formulate consensus on return of
incidental findings in LSMS. Dr. Kingsmore will present
experience with neonatal and pediatric diagnosis by
LSMS. Finally, Dr. Veltman will present the results of
a pilot using LSMS to diagnose genetically
heterogeneous diseases with required return of all
medically relevant results.
9:40
AM
ClinSeq: A pilot study of large-scale
medical sequencing in research and implications
for clinical genomic medicine.
L. G. Biesecker.
NHGRI/NIH.
10:10
AM
Expert concordance and discordance for
return of incidental findings from whole genome
sequencing.
R. C. Green. Brigham and Women’s
Hosp.
10:40
AM
Using next-generation sequencing for
carrier testing for severe childhood recessive
diseases.
S. F. Kingsmore. Children’s Mercy Hosp.,
Kansas City, KS.
11:10
AM
Diagnostic implementation of exome
sequencing: Results from 500 patients.
J. Veltman.
Genomic Disorders Nijmegen, Netherlands.