Big personal genome news today. Mutations and the diseases they cause are not exactly what had been thought. A whole family’s genome has been decoded, revealing vital new clues to how and why genetic diseases occur and what kind of mutations are behind them. A doctor with an inherited disease has had his genome decoded, with similar revelations about such mutations and his own individual details.

The study of the whole family is in the journal Science – a basic research vehicle that, like Nature and more specialized publications, has been the carrier of most genomics news until now. Tellingly, that of the doc with the disease is in the New England Journal of Medicine, a pub aimed straight at practicing physicians and a sure sign that the fast-dropping cost of sequencing individual genomes is already low enough to begin clinical impact.

Plenty of outlets leaped on the news. One worth a specific notice for a specific and enterprising reason is in the NYTimes by Nicholas Wade. He, as do other reporters, leads on the emergence of deeply detailed, bespoke genomics as a practical tool of medicine. But also in this is something I had not heard – that the expected vehicle for taking gene analysis out of the lab and into the clinic has been a big flop (my words, not Wade’s). The genome-wide association studies that were supposed to narrow the list of specific mutations behind common diseases, and thus offer screening tests for those vulnerable, have not found the expected, manageable list of targets. Instead, it turns out that while the same relatively few genes may be involved in many illnesses, the specific mutations that impair those genes are far more diverse than hoped.

On the other hand, it appears that, on average, parents pass fewer mutated genes to their children than had been supposed. The variety is greater but the number is smaller. Hmm. That’s a tough thought to process in the brain all at once. Is that good news in sum, or not? Either way, one hopes that targeted therapies will follow.

A question central to this site’s focus on journalism is whether this disappointment in genome wide association studies been reported in mass media before. Or did it take the arrival of better testing to get doctors and researchers talking about it to reporters? Good for Wade to have it now. But better investigative journalism, one thinks, should have turned this up already. There has been spot news (as see this HealthDay story in Business Week not long ago) but not, far as I can tell, very much. Perhaps we’ll get word here of others on the topic? I’ll update the post if so.

Other stories, one with a scoop on top:

• Here’s a fat dose of exclusivity - Salt Lake Tribune – Kirsten Stewart: Unraveling one family’s genome ; This has personal detail (including names and their photos) on the Utah family whose genes were studied. This is the kind of go-getter reporting that keeps readers’ attention to the last paragraph. In other accounts, the people are anonymous, their lives and thoughts unreported. The publicity behind the new paper did not give the paper the family’s id, either. The reporter appears to have figured it out from previous news on it, and presentations in other “clinical papers and medical school lectures.” It says here she got full family permission to share. Thus is seen the value of having a solid beat reporter.
• Deseret News – Carrie A. Moore: University of Utah study sheds light on rate of gene mutations ; Looks like the cross-town rival paper got the scoops. This is a competent enough job but little beyond what the one paper in Science, and the press release, provide.
• Houston Chronicle – Eric Berger: Genome work ushers in new genetic era ; Detailed report, limited to  just the NEJM report on one physician whose genome pinpointed the source of his inherited disease.
• AP – Randolph E. Schmid: Personal look at genes locates disease causes ;  On both reports.
• Reuters – Maggie Fox, Julie Steenhuysen: “Personal” study shows gene maps can spot disease ; Both studies, with an interesting angle on the doc who got his own genome done. Credit the chunk of stimulus money poured by Obama into NIH, says here.
• LA Times (long blog) Thomas H. Maugh II: Five new human genomes decoded, marking a transition to more personalized medicine ; Almost skipped this, as it’s a blog. Near miss – Maugh produced a highly detailed, explanatory post. Notably in this, update version he includes the names of the Utah family members and rightly attributes the info to the Salt Lake Trib’s reporting.
• Seattle Times - Sandi Doughton: For first time, Seattle team cracks genome of entire family ;
• AFP – Parents give kids fewer bad genes than thought: study ;
• New Scientist (blog)  – Ewen Callaway ; Complete genomics finds its first diseases ;
• AAAS ScienceNOW – Jocelyn Kaiser: Scouring the Whole Genome to Nail Disease Genes ; Good reporting despite a presumed conflict of interest (one’s boss) – the account gives pride of place to the NEJM piece, and then turns to the one in Science.
• MIT Technology Review – Emily Singer: Hunting Disease Origins with Whole-Genome Sequencing;
• Independent (UK) Jeremy Laurance: The future of medicine has arrived ; Way overdone main hed, although the dek clarifies things. The story is about the NEJM study alone, with somewhat off topic but smart reference to health insurance and pre-existing conditions revealed by gene test;
• Bloomberg – Jason  Gayle, Rob Waters: Family Genome Sequence Fewer Mutations Inherited ;
• … could do more.

Grist for the Mill:

Univ. of Utah Health Services Press Release ; Inst. of Systems Biology Press Release , More press info ; Complete Genomics Inc Press Release ; Baylor College of Medicine Press Release ;

Pic: DOE Poster, source ;

- Charlie Petit

This entry was posted on Thursday, March 11th, 2010 at 2:21 pm and is filed under Health & Medicine Stories, Science Stories. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.