Archives for June 2010

23andMe receives more funding

Google has invested 7 Million total (2.6 Million more today) in 23andMe believing in its capacity to deliver in the future. With the number of participants and data collected this may well be true however on the day 23andMe announced they had partnered with another company to provide genetic counseling I am confident that my expertise will be recognized for its value. We all eat but once you learn your perceived risk for a disease that’s all to learn. I integrate this data to provide action plans, tailored recipes and make this knowledge helpful and proactive.

Validation of Genomic Data becomes Crucial

One reason why the genomic revolution is not yet as advanced as many had hoped is the huge amount of variability between individual genomes and challenges surrounding data validation.

At a recent meeting of Human Genome Organization (HGM) in Montpelier, France a number of presentations noted the widespread variation among human genomes that are challenging the current high throughput technologies.

Validation protocols for the 100 sample genomes required to win the Archon Genomics X Prize will require highly sophisticated bioinformatics software to capture this inter-individual variability. Simply conceiving of such variability mentally is already enough to give one a headache!

Unrealistic expectations lead to disappointment for genomics

Nicholas Wade, science writer for New York Times describes his disappointment in genomics for personalized medicine but this misses the point in my opinion. Genomic discoveries like any diagnostic tool are part of a larger picture of health. It is in integrating this knowledge along with family medical history and personal life experience that true medical advances will be realized. Over reliance on any screening tool is bound to lead to disappointment especially when people come at the field with such high expectations. Identifying individuals using DNA is a very different project than identifying their risk factors for chronic disease beyond what we already know to be true – smoking, being overweight and sedentary, etc. Mitochondrial DNA and how it influences gene expression is another dimension of genomics yet to be understood or integrated into nuclear DNA genomic discovery. If mitochondria are relics of symbiotic bacteria then this would probably be highly relevant to our current health status. I think we have to be patient and continue to use sensible public health applications while slowly integrating what is valuable from genomic scientific discoveries. Just my personal view – I’d be interested in what others think.

Single Molecule Sequencing (SMS)

Helicos Biosciences Corp. is advancing single molecule sequencing

Stanford professor Stephen Quake has made his entire genome available for research purposes using SMS. One more step towards cheap and available GWAS for all. Lee Hood and George Church are members of Scientific Advisory Board.

Microbial Genes and the Human Genome

Attended a 2 day conference on the Future of Genomic Medicine at Scripps. The Keynote speaker was J Craig Venter who blew my mind as usual. He expanded our awareness of genomics to the vast numbers of microbial genes that live in and on us. Estimated at 10 million – most in our mouth and digestive tract. – the human microbiome.

Human Microbiome

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