Question of the Year: the 1000$ Genome
Personalized genetics and the Personal Genome Project still don’t get enough attention in the blogosphere. But now, Nature Genetics has an interesting article:
The sequencing of the equivalent of an entire human genome for $1,000 has been announced as a goal for the genetics community, and new technologies suggest that reaching this goal is a matter of when, rather than if. What then? In celebration of its upcoming 15th anniversary, Nature Genetics is asking prominent geneticists to weigh in on this question: what would you do if this sequencing capacity were available immediately?
Here are my favourite answers:
- James R. Lupski (Baylor College of Medicine): new mutations genome-wide
First, what is the frequency of de novo SNPs? Second, what is the frequency of de novo copy number variants (CNVs)?
- Michal Pravenec (Institute of Physiology, Czech Academy of Sciences): personalized medicine for treating common diseases?
Both genome-wide association studies in thousands of fully sequenced individuals and studies of animal models will identify new genes and pathways as potential targets for therapy and will provide new insights into the pathogenesis of common diseases.
- Michael D. Rhodes (Applied Biosystems): the Gaia Genome Project
If the 6-Gb diploid human genome costs a mere $1,000, a 4-Mb haploid genome would cost $0.67. The true diversity of the world, most of which is in single-celled organisms, will be accessible to science.
- Leena Peltonen-Palotie (University of Helsinki): how do genes and life events communicate to influence disease risk?
These two global experiments would help us to establish a basic understanding of two fascinating and complex biological and health-related problems: (i) how do our life events, including those of early childhood, modify the impact of our genome on various diseases developing throughout life, and (ii) how do factors besides genome structure (e.g., methylation and epigenetics) affect our biological features, including diseases?
I’m not a researcher or a physician yet, but I have my answer:
If the entire human genome could be sequenced for $1,000 , I’d struggle to make it possible for anyone to know more about their own genes; to know what kind of diseases they have elevated genetic risk for according to the genome-wide association studies and papers we know so far. I know how important it is to use this incredible amount of data in research, but I’d love to have it used for the public benefit as soon as possible.
What is your answer? What would you do if it became possible to sequence the equivalent of a full human genome for only $1,000?