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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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personalized medicine the promise of the 1000 genome

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

24 – 28 October 2008, Rotterdam, The Netherlands

but please note nothing new here
But, please note, nothing new here …

Good medicine is personalized

(regardless of genomes and $$)

the personal genome project www personalgenomes org
The Personal Genome Projectwww.personalgenomes.org
  • Latest news: where does it stand
  • Origins: where does it come from
  • Reasons: why doing it
  • Questions: anything you like to discuss
for updates see
For updates see:

for data see: www.personalgenomes.org/public

1 origins of pgp technology
#1 origins of PGP: technology
  • PGP stems from technology development:

It has its origins in the CEGS-Harvard proposal 2003 with focus on the development and application of polonysequencing

polonies
Polonies?

"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.

  • For the basics, see:Shendure, Porreca, Reppas, Lin, McCutcheon, Rosenbaum, Wang, Zhang, Mitra, Church (2005) Science 309:1728.A
  • For the instrument, see: www.polonator.org
slide9

A Sequencing Array of Polony Beads

Shendure, Porreca, Reppas, Lin, McCutcheon, Rosenbaum, Wang, Zhang, Mitra, Church (2005)

Science 309:1728.A

2 origins of pgp elsi
#2 origins of PGP: ELSI

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?”

this resulted in
This resulted in …

A sequencing and technology development project hand in hand with an ELSI demonstration project

the personal genome project
The Personal Genome 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

consent revisited closer to the truth
Consent revisited - closer to the truth?

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.”

consent
consent

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.

  • Volunteers have the right to opt out at any point.

But: data that have been released into the public

domain cannot be retrieved

reasons why doing it
Reasons: why doing it

From the $1000 genome to personalized medicine?

  • YES, it is a necessary condition
  • BUT it is not sufficient
many questions call for answers
Many questions call for answers

on our way to the < $500 genome we identify and address problems in technology and in the ELSI realm, for example:

  • Dealing with raw data: quality & feed-back
  • Interpretation & communication of research outcomes
  • To whom it may concern: participants & relatives
acknowledgement
acknowledgement

The PGP-team wishes to thank you for your critical questions.

Ongoing feedback has sharpened our ideas and helped shape PGP.

j.lunshof@socmed.unimaas.nl / jeantine.lunshof@falw.vu.nl