Page 80 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
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INVITED AND PLATFORM SESSIONS
Wednesday, November 7
8:00
AM
–10:00
AM
Concurrent Invited Session I (3-10)
SESSION 3 – Implementing Next-Generation
Sequencing as a Clinical Test
Hall D, Lower Level North, Moscone Center
Moderators
:
Nazneen Aziz, Col. of American
Pathologists, Lexington, MA; Ira Lubin, Ctr. for Dis.
Control and Prevent.
Next-generation sequencing (NGS) is used widely in
clinical research for the discovery of disease-
associated genes and the clinical community is
beginning to embrace this technology for diagnostic
testing. The rapid evolution of NGS technologies
presents significant opportunities and challenges for
researchers and clinicians for improving health
outcomes; particularly with respect to an increased
emphasis on personalized and preventive medicine.
Adoption of NGS in the clinical laboratory setting
requires the adoption of many processes and
procedures, such as, the analytic and clinical
validation of the test, CLIA/CAP certification, standards
for reference materials for proficiency testing, and
questions regarding reimbursement and informed
consent. This session will initially review the state of
NGS in the clinical setting today and what is
anticipated in the near future. This will be followed by
consideration for what is practically needed for clinical
adoption of NGS such as regulatory and professional
standards, development, availability, and access to
reference materials, and the laboratory professional’s
role for ensuring high quality test results that are useful
for informing clinical decision making. This session will
be informative and practical for the researcher and
laboratorians who are considering launching NGS as a
clinical test.
8:00
AM
Challenges of introducing NGS in the
clinical laboratory.
S. Richards. Oregon Hlth. & Sci.
Univ.
8:15
AM
Addressing the fundamentals: NGS
validation and implementation in a clinical setting.
M. Hegde. Emory Univ.
8:45
AM
Proficiency testing, quality control and
development of reference material for NGS clinical
testing.
E. Lyon. Univ. of Utah Sch. of Med.
9:00
AM
Development of accreditation standards
for laboratories offering NGS as a clinical test.
N. Aziz. Col. of American Pathologists, Lexington, MA.
9:30
AM
Lessons from the clinic—What’s next?
H.
Jacob. Med. Col. of Wisconsin.
Wednesday, November 7
8:00
AM
–10:00
AM
Concurrent Invited Session I (3-10)
SESSION 4 – Assessing the Pathogenicity of Genetic
Variants: Translating in Vitro and in Silico Advances to
the Clinic
Gateway Ballroom 103, Lower Level South, Moscone
Center
Moderators
:
Marc S. Greenblatt, Univ. of Vermont;
Sean V. Tavtigian, Univ. of Utah
Interpreting which genetic variants are pathogenic and
which are not remains a critical challenge in the
genetics of hereditary cancer syndromes and other
inherited disorders. Genetic testing for disorders such
as Lynch syndrome (caused by mutations in DNA
mismatch repair genes) and hereditary breast-ovarian
cancer (
BRCA1
,
BRCA2
genes) often identifies a
`Variant of Uncertain Significance’ (VUS). As DNA
sequencing capacity increases at a furious pace, there
is an ever greater need to have effective methods to
analyze these data. There is a consensus in the field of
genetic testing that proper classification of variants
requires the integration of multiple types of data.
Some lines of evidence are familiar to clinicians (e.g.,
segregation of an allele with disease, detailed
phenotype), and others are less familiar (e.g., in vitro
protein functional assays, in silico algorithms based on
gene sequence or protein structure). Ideally, integration
can be done in a quantitative way, such as Bayesian
probabilistic analysis, but qualitative data may be used
if quantitative measurements are not possible. This
session will 1) explore recent advances in applying
and integrating statistical, laboratory, and
computational methods in the classification of
missense, splice site, and other genetic variants, and
2)
report on international collaborations that are using
these methods to classify variants in mismatch repair,
BRCA, and other genes and disseminating validated
conclusions to the cancer genetics community.
8:00
AM
Innovative in vitro and in vivo assays to
investigate the function of mismatch repair gene
variants in Lynch syndrome.
N. de Wind. Leiden
Univ. Med. Ctr., Netherlands.
8:30
AM
Analysis of splicing abnormalities to
define pathogenic variants in cancer susceptibility
genes.
A. B. Spurdle. Queensland Inst. of Med. Res.,
Australia.
9:00
AM
Integrating in silico with in vitro,
statistical, and phenotype data to classify missense
variants: A paradigm that is ready for translation to
the clinic.
S.V. Tavtigian. Univ. of Utah.
9:20
AM
CAGI: The Critical Assessment of
Genome Interpretation, a community experiment to
evaluate phenotype prediction.
S. E. Brenner. Univ.
of California, Berkeley.
9:40
AM
International collaborations to establish
standards for classifying genetic variants and to
disseminate results.
M. S. Greenblatt. Univ. of
Vermont.
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