An article by Nicholas Wade, science writer for the New York Times Disease Cause Is Pinpointed With Genome describes two research teams who have independently sequenced the entire genome of patients to find the exact genetic cause of their diseases.
A fantastic research blog post at Genetic Future titled Disease hunting with whole genome sequences: the good news; the bad news offers readers the scientist take on the studies that motivated Wade’s article. The author at once celebrates the technical achievements of the papers and tempers our enthusiasm citing the inherent complexity of the genome when dealing with more complex diseases.
Some things caught my attention about the Wade article:
- “The finding implies that common diseases, surprisingly, are caused by rare, not common, mutations. In the last few months, researchers have begun to conclude that a new approach is needed, one based on decoding the entire genome of patients.”
- “The new reports, though involving only single-gene diseases, suggest that the whole-genome approach can be developed into a way of exploring the roots of the common multigene diseases.”
- “We need a way of assessing rare variants better than the genomewide association studies can do, and whole-genome sequencing is the only way to do that,” Dr. Lupski said.”
We are working as hard as we can to:
- Aggregate as much public sequence data as possible, including 1K Genomes, PGP, and cancer genome projects
- Provide easy ways to combine this data with new sequence data
- Provide powerful facilities for grouping and counting on genotype-phenotype properties, on a very large scale
The news is just a landmark on for the progress the industry is making to eliminate barriers and move Personalized Medicine forward: the cost of sequencing many patients is coming down, cloud computing is making unlimited computing feasible, and GenomeQuest is making it tractable to work with this data.