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Personalized Medicine: The promise of the $1000 genome ? Jeantine E. Lunshof Ethics Consultant PGP Maastricht University, Dept. of Social Medicine VU University Amsterdam, Dept. of Molecular Cell Physiology HUGO – Human Genome Organisation Mutation Detection Training Course 2008
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Jeantine E. Lunshof
Ethics Consultant PGP
Maastricht University, Dept. of Social Medicine
VU University Amsterdam, Dept. of Molecular Cell Physiology
HUGO – Human Genome Organisation Mutation Detection Training Course 2008
24 – 28 October 2008, Rotterdam, The Netherlands
Good medicine is personalized
(regardless of genomes and $$)
for data see: www.personalgenomes.org/public
It has its origins in the CEGS-Harvard proposal 2003 with focus on the development and application of polonysequencing
"Polonies are discrete clonal amplifications of a single DNA molecule, grown on a solid-phase surface. This approach greatly improves the signal-to-noise ratio. Polonies can be generated using several techniques that include solid-phase PCR in polyacrylamide gels, bridge PCR, rolling-circle amplification, BEAMing (beads, emulsions, amplification and magnetics)-based cloning on beads and massively parallel signature sequencing (MPSS) to generate clonal bead arrays.“
Fan JB, Chee, MS, Gunderson, KL (2006) Highly parallel genomic assays. Nature Rev. Genet. 7:632-44.
Shendure, Porreca, Reppas, Lin, McCutcheon, Rosenbaum, Wang, Zhang, Mitra, Church (2005)
PGP stems from questions that were raised in the ELSI section of the (2003) CEGS Harvard proposal:
“How may the gathering of increasing amounts of genetic information be made compatible with ethical and legal requirements of privacy?”
“Are current informed consent practices sufficient to give human subjects adequate understanding of the potential that their identity may be discernable in large genetic datasets obtained from them?”
A sequencing and technology development project hand in hand with an ELSI demonstration project
“The main scientific goal of this study is to explore ways to connect human genotype and phenotype information, i.e. human genome sequence, medical records, and non-medical physical traits, so that such data can be used for hypothesis-generating exercises and computational efforts worldwide.”
Personal Genome Project – Consent Form – vs. February 2007
Given the increasing availability and accessibility of data, and identifiability of donors we suggest a different consent, requiring that:
“ …you should seriously consider the scenario where all of your data and identity would be accessible by a large number of people.”
The core concept of “open” consent:
Volunteers accept the hypothetical possibility of complete and public disclosure of comprehensive identifying genetic information. Volunteers accept the risks of learning about, and of revealing any medical condition they might have.
But: data that have been released into the public
domain cannot be retrieved
From the $1000 genome to personalized medicine?
on our way to the < $500 genome we identify and address problems in technology and in the ELSI realm, for example:
The PGP-team wishes to thank you for your critical questions.
Ongoing feedback has sharpened our ideas and helped shape PGP.
firstname.lastname@example.org / email@example.com