Page 117 - ASHG 2013 Program Guide

104
INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Thursday, October 24
4:30
PM
–6:30
PM
Concurrent Invited Session II (37-43)
SESSION 41 – Informed Consent for Whole Genome
Sequencing: Experience and Implications for Practice
Hall B2, Level 0 (Lower Level), Convention Center
Moderators
:
Stephanie M. Fullerton, Univ. of
Washington Sch. of Med.; Holly K. Tabor, Seattle
Children’s Hosp.
Whole genome sequencing (WGS), and related
next-gen approaches to genetic investigation, have
emerged as predominant research strategies with
tremendous analytical and clinical promise. While the
number of individuals whose genomes have been
sequenced is expanding rapidly, best practice with
respect to informed consent for such sequencing is
not yet settled. Not only are the benefits and risks of
involvement imperfectly understood, the near-certain
prospect of generating clinically relevant findings must
be communicated, and where possible, participant
preferences with respect to the offer of particular
types of findings solicited. Clearly conveying such
complexities in a time-limited invitation to participate
in research, and/or testing in a clinical setting, is
challenging and important questions remain with
regard to the types of information conveyed, the
modes of communication employed, the expertise
required of the individuals doing the consenting, the
range of choices presented, and the ability to revisit
consent preferences as the study unfolds. These and
related challenges will be discussed, and empirical
data on the efficacy and acceptability of specific
approaches in a range of studies from the NHGRI
and NCI supported Return of Result and Clinical
Sequencing Exploratory Research Programs, will be
presented.
4:30
PM
Research goals and informed consent in
clinical genomics research.
J. C. Sapp. NHGRI/NIH.
5:00
PM
Informed consent and its role in eliciting
result return preferences.
W. K. Chung. Columbia
Univ.
5:30
PM
Consent, assent, and WGS studies of
children.
I. A. Holm. Boston Children’s Hosp.
6:00
PM
Informed consent for large-scale clinical
mutation testing: Anticipating the future.
R. R.
Sharp. Cleveland Clin.
Thursday, October 24
4:30
PM
–6:30
PM
Concurrent Invited Session II (37-43)
SESSION 42 – Multimodal Treatment of Lysosomal
Storage Diseases as a Portal to Emergent Genetic
Therapies
Room 205, Level 2, Convention Center
Moderator
:
Ari Zimran, Shaare Zedek Med. Ctr.,
Jerusalem
The Orphan Drug Act, enacted 30 years ago,
enabled sufferers of rare disorders to benefit from
commitment of pharmaceutical companies to prioritize
development of orphan drugs for circumscribed
patient populations. Among the first options was
intravenous Enzyme Replacement Therapy (ERT) for
visceral signs and symptoms of Gaucher disease
which has proven to be safe and effective (placental
Ceredase
®
and recombinant Cerezyme
®
,
Genzyme
Corporation; Cambridge MA) as have the company’s
impressive international compassionate programs.
Biosimilar ERT with VPRIV
®
(
Shire HGT, Cambridge
MA) and Elelyso
®
(
Protalix Therapeutics, Carmiel Israel)
were introduced prior to (FDA) regulatory approval
(
February 2010 and May 2012, respectively) because
of a global shortage in Cerezyme supply. Nonetheless,
despite their putative increased safety (e.g., lower
antibody rates and non-mammalian system,
respectively) and possible improved efficacy, these
are also expensive and intravenous. Other modalities,
particularly substrate reduction therapy (SRT) and
pharmacological chaperones (PC) administered orally,
may provide added safety, convenience, quality of
life, and may prove to be considerably less costly.
We will provide updated profiles on these different
treatment modalities in the context of therapeutic
models for other single gene disorders. Nevertheless,
the availability of a specific therapy, especially for the
patients who present at an early age, has altered the
composite patient profiles of patients, for instance
since the devastating and life-threatening sequelae
are less likely to occur as early as they once did. Thus,
the current concerns in the post-specific therapy
era are radically different than heretofore and will be
presented in the context of various LSDs.
4:30
PM
Enzyme replacement therapy.
G. A.
Grabowski. Cincinnati Children’s Hosp.
5:00
PM
Substrate reduction therapy.
G. Pastores.
NYU Sch. of Med.
5:30
PM
Pharmacologic chaperones.
O. Goker-
Alpan. Ctr. for Clin. Trials, O&O Alpan, Fairfax, VA.
6:00
PM
Future perspectives.
D. Elstein. Shaare
Zedek Med. Ctr., Jerusalem.