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Personal Genomics
Description:
The use of individual human genome sequence information has passed the threshold of basic experimentation and speculation, and has entered the early stages of clinical research and diagnostics, beginning to find application in determining treatment strategies.
Currently, a person wanting to know his or her complete genetic blueprint can do so – for a fee of around US$350,000. If the cost of sequencing a human genome can drop to US$1,000 or less, experts believe that it would start to become feasible to analyze an individual’s DNA to elucidate which diseases they might be at risk for and which medicines might be most appropriate for them. Ultra high-throughput sequencing strategies mean that this might become a reality in the foreseeable future.
Advances in genome-based personalized medicine are therefore likely to substantially influence the course of both disease research and the nature of medical practice in future. To address the scientific, societal and ethical issues raised, this Special Focus Issue of teh peer-reviewed journal Personalized Medicine focuses on the personal genome and the implications for the future of medicine. A carefully selected collection of articles provide a scholarly synthesis of the current debates from key players in the science and ethics related to personal genomics.
The Guest Editors, Dr Elaine R. Mardis (The Genome Center at Washington University, USA) and Dr Jeantine E. Lunshof (European Centre for Public Health Genomics at Maastricht University, The Netherlands) have brought together nine substantive articles from international specialists, including an insightful and thought provoking Editorial by the Nobel Prize winner molecular biologist Dr James D. Watson – co-discoverer of the structure of DNA in 1953. In his Editorial Dr Watson comments, “I have benefited a lot from being the first human to have his or her personal genome made publicly available on the web…” and he explains what this has meant to him and his relations, and how he would have felt knowing the information as a young man rather than as an 81-year-old.
Currently, a person wanting to know his or her complete genetic blueprint can do so – for a fee of around US$350,000. If the cost of sequencing a human genome can drop to US$1,000 or less, experts believe that it would start to become feasible to analyze an individual’s DNA to elucidate which diseases they might be at risk for and which medicines might be most appropriate for them. Ultra high-throughput sequencing strategies mean that this might become a reality in the foreseeable future.
Advances in genome-based personalized medicine are therefore likely to substantially influence the course of both disease research and the nature of medical practice in future. To address the scientific, societal and ethical issues raised, this Special Focus Issue of teh peer-reviewed journal Personalized Medicine focuses on the personal genome and the implications for the future of medicine. A carefully selected collection of articles provide a scholarly synthesis of the current debates from key players in the science and ethics related to personal genomics.
The Guest Editors, Dr Elaine R. Mardis (The Genome Center at Washington University, USA) and Dr Jeantine E. Lunshof (European Centre for Public Health Genomics at Maastricht University, The Netherlands) have brought together nine substantive articles from international specialists, including an insightful and thought provoking Editorial by the Nobel Prize winner molecular biologist Dr James D. Watson – co-discoverer of the structure of DNA in 1953. In his Editorial Dr Watson comments, “I have benefited a lot from being the first human to have his or her personal genome made publicly available on the web…” and he explains what this has meant to him and his relations, and how he would have felt knowing the information as a young man rather than as an 81-year-old.
Contents:
EDITORIAL:
- Living with my personal genome
Jim Watson
RESEARCH ARTICLES:
- Genomic and geographic distribution of private SNPs and pathways in human populations
Tesfaye M Baye, Russell A Wilke, Michael Olivier
REVIEWS:
- Pharmacogenetics and personal genomes
Michael J Wagner
PERSPECTIVES:
- Next-generation sequencing of cancer genomes: back to the future
Matthew J Walter, Timothy A Graubert, John F DiPersio, Elaine R Mardis, Richard K Wilson, Timothy J Ley
- ‘Principled’ personalized medicine?
Bartha Maria Knoppers, Denise Avard
- When consumers get their genomes
Darren Platt
- Education and personalized genomics: deciphering the public’s genetic health report
Neil E Lamb, Richard M Myers, Chris Gunter
SPECIAL REPORT:
- Eyes wide open: the personal genome project, citizen science and veracity in informed consent
Misha Angrist
- Living with my personal genome
Jim Watson
RESEARCH ARTICLES:
- Genomic and geographic distribution of private SNPs and pathways in human populations
Tesfaye M Baye, Russell A Wilke, Michael Olivier
REVIEWS:
- Pharmacogenetics and personal genomes
Michael J Wagner
PERSPECTIVES:
- Next-generation sequencing of cancer genomes: back to the future
Matthew J Walter, Timothy A Graubert, John F DiPersio, Elaine R Mardis, Richard K Wilson, Timothy J Ley
- ‘Principled’ personalized medicine?
Bartha Maria Knoppers, Denise Avard
- When consumers get their genomes
Darren Platt
- Education and personalized genomics: deciphering the public’s genetic health report
Neil E Lamb, Richard M Myers, Chris Gunter
SPECIAL REPORT:
- Eyes wide open: the personal genome project, citizen science and veracity in informed consent
Misha Angrist
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