The Personal Genome - Hopes, Facts and Fears

Motivation:

• Recent advances in genomic sequencing technology have quickly brought the idea of the personal genome—a copy of one's complete genetic blueprints—to the forefront of scientific and cultural thought.

  This advent of personal genomics will confront us with many questions about the relationship between science and society. How will these advances affect us as scientists; as thinkers; as citizens?

  With a series of engaging lectures followed by an open panel discussion, this half-day meeting will help facilitate a first conversation between scientists, social scientists, and the general public on this important and timely matter.

Speakers:

• (chair) Martin Bobrow, University of Cambridge
• Paul Flicek, EMBL/European Bioinformatics Institute
• Agnar Helgason, deCODE Genetics
• Adam Hedgecoe, University of Sussex
• Adam Bostanci, University of Cambridge

Registration:

• Registration Closed.

Introduction

What are the fundamental differences between past and present approaches in population genetics, for instance between family linkage studies on the one hand, and whole genome analysis on the other hand? Will the latterreveal a new dimension of complexity that will render previous approaches inconclusive, or even obsolete? With the advent of vastly improved new technologies for sequencing and assessing genetic variations - not only variations in base pairs, but in deletions, insertions, and multiplications of stretches of DNA as well - remarkable new insights have been gained and the prospects of elucidating causal relationships underlying phenotypic differences among individuals multiplied.

The monumental progress made in recent times in DNA sequencing and genotyping has already greatly increased the rate of discoveries in human genetics. And the impact is affecting more than just the world of academic research. Private companies have started applying these new technologies and market them as: 'personal genomics'. Depending on people's financial means, they can now buy a rough scan of their genome or can have it entirely sequenced. The companies claim the information should help customers learn about themselves and improve their health, while many basic researchers and ethicists wonder whether these services will not at this stage raise more problems than they solve, for consumers. In particular, many worry that unregulated release of personal genome sequences will/may give rise to aggravated problems of discrimination in society.

In spite of all the impressive technological progress and commercial entrepreneurship, it remains that sequencing all 3 billion base pairs of anysingle genome is not yet an affordable commodity for the average consumer. For those who cannot afford to pay hundreds of thousands of Euros for a full-course private genetic introspection, there are other solutions. One is to have just the protein-coding regions of your genome (ca.1%) sequenced. That is in fact the approach taken by the Person Genome Project being launched at Harvard University. While waiting for whole genome sequencing to become more easily available to the public, selective glimpses are also being offered to consumers, thanks to a growing number of companies that are counting on public demand for information. They invite their clients to send in biological samples that they will scan for as many as 1million markers, matching the results with knowledge available in publicdatabases on ancestry, common diseases, and other meaningful traits.

These are some of the main issues that will be the focus of this year's EMBL-EBI symposium in Cambridge on 23 May: 'The Personal Genome: Hopes, Facts, and Fears'

Chair and Organisers

This conference is hosted by the EBI as a part of the EMBL-EBI Science and Society programme .

Symposium chair

• Martin Bobrow, Head of the Department of Medical Genetics, University of Cambridge

Organising Committee

• Gregory Jordan, EMBL-EBI, UK
• Melanie Stefan, EMBL-EBI, UK
• Halldor Stefansson, EMBL Heidelberg, Germany

Contact

• personal_genome@ebi.ac.uk

Programme

The programme will include 4 individual talks by invited speakers and a 1 hour open discussion period with all speakers.

Martin Bobrow (Chair)

Martin Bobrow was Professor of Medical Genetics at the University of Cambridge (1995-2005). Research interests were in genetic disease and molecular diagnostics. Other relevant activities include membership of the NHS Central R&D Committee (1991-1997); MRC Council (1988-94); Wellcome Trust Board of Governors (1996-2007) (Deputy Chairman 2004-2007); Nuffield Council on Bioethics (1996-2003)(Deputy Chairman 2000-2003); Chairman COMARE [Committee on Medical Aspects of Radiation in the Environment] (1985-1992) and ULTRA [Unrelated Living Donor Regulating Authority] (1990-2000); Non Executive Director Cambridge University Hospitals NHS Foundation Trust (2004).

Paul Flicek

Paul Flicek is a member of the faculty of the European Molecular Biology Laboratory and leads the Vertebrate Genomics Team at European Bioinformatics Institute (EMBL's Hinxton Outstation). His responsibilities include leadership of the chordate-focused Ensembl project and the human variation group, which includes database resources such as the European Genotype Archive.

Paul graduated from Drake University in Des Moines, Iowa, USA, with a BS (Magna Cum Laude) in Physics. He went on to use x-ray spectroscopy to study high-level radioactive waste at the Pacific Northwest National Laboratory in Washington State, and manage the radiation safety program at Walter Reed Army Medical Center in Washington, DC, before discovering computational biology and completing the Doctor of Science degree in Biomedical Engineering at Washington University in St. Louis, USA. Paul did post-doctoral work in the lab of Dr Ewan Birney at the European Bioinformatics Institute near Cambridge, England.

Paul's research is focused on genome-wide analysis of variation and comprehensive genome annotation. He has played a role in a number of international consortia including the ENCODE project and the mouse, chicken, and platypus genome projects and is currently co-chair of the data flow group of the 1000 Genomes project.

Agnar Helgason

Agnar Helgason completed his undergraduate training in Anthropology at the University of Iceland in 1992, after which he obtained a research-based Masters degree in social anthropology in 1995 at the same institution. In 1996 Agnar graduated from the University of Cambridge with an MPhil in Biological Anthropology and with a D.Phil in the same subject from the University of Oxford in 2001. In 2000 he joined deCODE Genetics where he is currently a senior research scientist in biological anthropology and population genetics as well as being an associate research professor at the Department of Anthropology in the University of Iceland.

Agnar's research areas include the genetic history of the Icelanders and the Inuit, the use of genealogical data in population genetics, the identification of patterns of natural selection at loci associated with complex diseases and traits such as pigmentation, the impact of population structure on association studies, and statistical analyses of ancient DNA. Agnar is an author of more than 30 articles in peer-reviewed scientific journals.

Adam Hedgecoe

Adam Hedgecoe is a Sociologist of science and technology focusing on the biomedical sciences. For over ten years he has researched the impact of genetic testing on professional practise in a range of diseases such as Cystic Fibrosis, Diabetes, and Schizophrenia, as well as the pharmacogenetics of Alzheimer's disease and breast cancer (about which he has written aprize winning book). He has a particular interest in the sociology of expectations, looking at how hopes and fears about new technologies feed back into their development and the growth of ethical and regulatory debates. More recently, he has looked at the development of ethics as a system of governance in the biomedical sciences, leading a three-year European Commission funded project carrying out a comparative ethnography on research ethics committees in four European countries. He has a Ph.D. from the Department of Science and Technology Studies at University College London, and has previously worked for the technology assessment units of both the European and British Parliaments.

Adam Bostanci

Adam Bostanci is a social scientist interested in questions that arise during the translation of biomedical science for individual and population health. His recently completed doctoral research at the ESRC Centre for Genomics in Society (at Exeter) involved a sociological study of the efforts to sequence 'the human genome', and he is currently working on publications to present his findings and how they affect our understanding of the science-society relationship. Drawing on literature in the philosophy of biology, he has also published research on the little-noticed phenomenon of whole-genome patenting and its conceptual implications. Prior to his Ph.D. he worked as a science journalist for two years. His first degree was an M.Sci. in biological chemistry at the University of Cambridge.

Registration

Registration is free and open to all. You may also register on site on the day of the symposium.

Location

The symposium will take place in Fitzwilliam College, Cambridge. It is located on Huntingdon Road, within walking distance (about 20 min) from the city centre. There is also a regular bus service. Maps and directions can be found here.

Accommodation &Travel

Please organise your own accommodation and travel

A comprehensive range of accommodation in central Cambridge can be found at smoothhound.

Inexpensive flights are available to London Stansted Airport from many locations in Europe.

From Cambridge Station you can get direct trains to London Liverpool Street, London King's Cross and Stansted Airport. For train timetables please see the National Rail website.

Contact

If you have any enquiries regarding the conference please send an e-mail to personal_genome@ebi.ac.uk