Page 83 - ASHG 2012 Annual Meeting Program Guide

72
INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Wednesday, November 7
8:00
AM
–10:00
AM
Concurrent Invited Session I (3-10)
SESSION 9 – Surveying Customer Responses to
Personal Genetic Services
Room 132, Lower Level North, Moscone Center
Moderator
:
J. Scott Roberts, Univ. of Michigan
This session will feature presentation of empirical data
on the responses of personal genome testing
consumers to their individual genomic information. Dr.
David Kaufman of Johns Hopkins University will
discuss publicly available interpretations of individual
whole genome sequence data in light of his Center’s
prior work on direct-to-consumer (DTC) testing and
return of individual genetic research results. Dr.
Cinnamon Bloss of the Scripps Genomic Health
Initiative (SGHI) will present new long-term follow-up
data from the SGHI, including data related to DTC
pharmacogenomic testing and genetic ancestry
testing. Dr. Sandra Lee of Stanford University will
describe an anthropological study of how the public
integrates information on population genetic variation
in their interpretation of individualized genetic risk
information for disease and drug response. The
session will conclude with a panel discussion
moderated by Dr. Scott Roberts of the University of
Michigan, joint PI (with Dr. Robert Green at Brigham
and Women’s Hospital) of the Impact of Personal
Genomics (PGen) Study. The PGen Study is a
longitudinal survey study examining consumers’
response to personal genome testing, including their
motivations and expectations, risk perceptions, health
behaviors and intentions. Two personal genomics
companies, 23andMe and Pathway Genomics, are
collaborators on the PGen Study, and the closing
panel will feature a discussion that includes company
representatives Dr. Joanna Mountain and Dr. Tanya
Moreno. In this discussion, panelists and audience
members will share their perspectives on the potential
benefits and risks involved in research partnerships
between academicians and personal genomics
companies.
8:00
AM
Interpretomics: Using studies of DTC
testing and the return of research results to shape
the interpretation of personal whole genomic
sequence data.
D. Kaufman. Genet. and Publ. Policy
Ctr., Johns Hopkins Univ.
8:30
AM
Impact of DTC genomic testing at long-
term follow-up.
C. S. Bloss. Scripps Translational Sci.
Inst. and Scripps Hlth.
9:00
AM
Rendering population differences
meaningful: A study of consumer interpretation of
genetic diversity.
S. S-J. Lee. Stanford Univ. Med.
Sch.
9:30
AM
The role of personal genomic testing
companies in research: A panel discussion
featuring industry and academic perspectives.
Panelists
:
J. Mountain
1
,
T. Moreno
2
,
J. S. Roberts
3
.
1) 23
andMe Inc., Mountain View, CA; 2) Genomics
Corp., San Diego; 3) Univ. of Michigan.
Wednesday, November 7
8:00
AM
–10:00
AM
Concurrent Invited Session I (3-10)
SESSION 10 – Metabolism, Metals, and
Neurodegeneration: Toward Enhanced Understanding
of Disease Mechanisms and Rational Therapeutics
Room 130, Lower Level North, Moscone Center
Moderators
:
Stephen G. Kaler, NICHD/NIH; Susan J.
Hayflick, Oregon Hlth. & Sci. Univ.
This session will focus on the expanding knowledge
concerning the influence of inborn errors of
metabolism and disorders of trace metal homeostasis
on neurodegeneration. Increasing numbers of clinical
phenotypes and molecular defects are now associated
with disordered metabolism in the central and
peripheral nervous systems. These include Alzheimer
and Parkinson diseases, Menkes and Wilson diseases,
ATP7A-related distal motor neuropathy, acetyl CoA
transporter 1-related hypocupremia, pantothenate
kinase-associated neurodegeneration, infantile
neuroaxonal dystrophy, dystonia-parkinsonism,
Friedreich ataxia, hemochromatosis, and iron sulfur
cluster scaffold myopathy. Expert speakers will discuss
and review translational research advances relevant to
these conditions, as well as emerging data on disease
mechanisms, pathophysiology, and potential novel
remedies.
8:00
AM
Alzheimer disease and the metal
hypothesis.
R. E. Tanzi. Massachusetts Gen. Hosp.
8:30
AM
Neurodegeneration with brain iron
accumulation.
S. J. Hayflick. Oregon Hlth. & Sci. Univ.
9:00
AM
Friedreich ataxia and diseases of iron
sulfur cluster assembly.
T. A. Rouault. NICHD/NIH.
9:20
AM
Neurodegeneration and disorders of
copper transport.
S. G. Kaler. NICHD/NIH.
9:40
AM
Exploring the link between
glucocerebrosidase mutations and Parkinson
disease.
E. Sidransky. NHGRI/NIH.