Genetic Future

Archives for March, 2010

One of the major potential stumbling blocks for the field of genome-based diagnostics – particularly as we begin to move into the whole-genome sequencing era – is the unresolved issue of gene patents.  Currently somewhere in the order of 20% of the protein-coding genes in the human genome are covered by some kind of patent…

Earlier this month I wrote a post skewering a terrible opinion piece about personal genomics in the Sunday Times by Camilla Long. This was my conclusion: If Long wishes to stay ignorant of her own genetic risks – just as she has managed to remain ignorant of the entire field of genetics, even while writing…

Nick Loman (of the University of Birmingham, and the Pathogens: Genes and Genomes blog) has a post updating us on his survey of second-generation sequencing machines around the world. Loman’s results are also available in the format of a handy Google map (see left). The take-home messages based on 669 machines in the database: Illumina continues…

Update: Dan Vorhaus has a brilliantly thorough post outlining the implications of the registry. NIH Director Francis Collins has announced the creation of a voluntary registry for genetic testing services, with the details of each service being made fully available in a public database. Much depends on the details, but if this database is done…

Camilla Long’s appallingly bad op-ed piece about personal genomics in the Sunday Times is a true masterpiece of unsupported criticism, and an ode to willful ignorance. I’d encourage readers to discover their own favourite errors and misconceptions (there are plenty to go around), but here are some of the more glaring flaws:

Nic Wade says something very strange in his most recent article on whole genome sequencing in reference to the outcomes of genome-wide association studies: The results of this costly international exercise have been disappointing. About 2,000 sites on the human genome have been statistically linked with various diseases, but in many cases the sites are not inside…

Zoe McDougall from Oxford Nanopore points me to a press release from Illumina announcing a new era of celebrity genomics: Illumina, Inc. (NASDAQ:ILMN) today announced that it has sequenced the DNA of American actress Glenn Close, the first publicly named female to have her DNA sequenced to full coverage. The service was completed in Illumina’s…

Lupski, J.R., et al. (2010). Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New England Journal of Medicine advance online 10.1056/nejmoa0908094 Roach, J.C., & et al. (2010). Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science : 10.1126/science.1186802 Two new papers out today – the first ever studies to employ whole-genome sequencing for disease gene…

Dan Koboldt has a very nice recap of the various sequencing technologies presented at last week’s Advances in Genome Biology and Technology meeting. I totally agree with his central point: Something had been bothering me about the sequencing-company presentations this year, and I finally realized what it was. During AGBT 2009, every player was gunning…

Dan Vorhaus pointed me to this review of the recent PBS series Faces of America. I haven’t seen the series myself, but I found this segment of the review hilarious: The element of the last PBS episode I found most intriguing was Gates’ interview with novelist Louise Erdrich, who declined to have her DNA tested…