Matthew Herper of Forbes noted that there has been an increasing number of cases in which people have been helped medically by knowing their genome and wonders how in the future how this will be monetized into a business. S. Pelech remarks that there have only been a few scattered reports where people have actually been helped medically by knowing their full genome, and points out that if genome sequencing is to become widely used for diagnostics, then it will have to be ultimately funded by government agencies that pay for health care or insurance companies. Read More...

Tags: DNA Sequencing, Personalized Medicine

Using DNA sequencing, researchers at Pacific Biosciences have started a project called the Disease Weather Map, which monitors viruses from locations like sewage stations, toilet handles, and people's mouths, in an effort to measure pathogen flux over time and track the emergence of new pathogen variants. S. Pelech comments that a cost-benefit analyses of doing this should quickly reveal its impracticality, and that it would be much cheaper to track where and when people are getting sick, and then rapidly identify the culprit. Read More...

Tags: DNA Sequencing, Diagnostics

Blogger Daniel MacArthur in Wired's Genetic Future blog observed that senior biotech executives are making their genomes public in what could be a "pragmatic" move to help their businesses grow by trying to convince the medical establishment (and the public) that genome sequencing will provide health benefits that outweigh the potential privacy risks. S. Pelech comments that these executives are willing to have their genome sequences revealed to the broad research community, because it may promote their business, they really have nothing to loose, and there is a slight possibility to personally benefit with researchers focused on their individual genomes. He argues that if these executives and some prominent scientists are willing to disclose their full medical, life and family histories coupled with a willingness to subject themselves to a wide barrage of medical tests and publicly disclose the results, this might actually be useful in helping to make some sense of our genetic differences. Read More...

Tags: DNA Sequencing, Industry

Based on the successful identification through genome-wide sequencing of a mutation associated with immune disorders on the X chromosome of six-year-old Nicholas Volker that could be behind his severe inflammatory bowel disease, it has been proposed by Howard Jacob, director the Human and Molecular Genetics Center at the Medical College of Wisconsin that similar genome sequencing should be a standard clinical option for children with rare, inherited diseases. S. Pelech comments that gene-wide-sequencing is impractical for the diagnoses of common diseases in the general population where most health care costs are borne. He also notes that in the case of Nicholas Volker's genome, it was not established that this mutation actually produces an immune disorder, nor was it clear that even with a causal link to the responsible gene that this knowledge could lead to an effective treatment. Read More...

Tags: DNA Sequencing, Disease diagnosis, Genome-wide sequencing

Blogger Richard Knox at the NPR Shots blog offered the example of Alexis and Noah Beery — 14-year-old twins afflicted with a rare disease called dopa-responsive dystonia — to show how knowledge from whole genome sequencing can provide more precise diagnosis and suggest effective disease therapy. S. Pelech questions whether it was even necessary to perform genome-wide sequencing of these twins, their parents and grandparents if the treating clinicians had a better understanding of basic biochemistry and performed obvious tests of serotonin levels, as it is well known that many cases of dystonia that are DOPA-responsive can arise from sepiapterin reductase (SPR) deficiency. Read More...

Tags: DNA Sequencing, Genome-wide sequencing

Kelly Rae Chi at Nature noted that as the DNA sequencing process becomes more and more automated, the analysis of the data is becoming more challenging and requires increasing bioinformatics expertise. S. Pelech argues that while it is desirable to have in-house programmers to help analyze data, it is necessary to train more graduate students and post-doctoral fellows with a much deeper and broader understanding of biochemistry, systems and molecular biology than what is typically offered today. Read More...

Tags: Career, DNA Sequencing, Bioinformatics, Graduate training, Post-doctoral training