lundi 7 juin 2010

100 genetic risks by genome

In the April 30, 2010 online issue of The Lancet, Ashley Caplan, PhD, director of the Center for Bioethics at the University of Pennsylvania and several of his colleagues note in an article that the average person will discover he or she has about 100 genetic risks.

"Even if [counseling on] that information averaged only three minutes per disorder, this process would take more than five hours of direct patient contact, after many hours of background research," they calculate.

And there are only about 2,500 trained genetic counselors and 1,100 clinical geneticists in North America, all now busy with other work.


The Personal genome project (PGP) wants to sequence and compare 100 thousand people.

The Genome 10K project aims to assemble a genomic zoo—a collection of DNA sequences representing the genomes of 10,000 vertebrate species, approximately one for every vertebrate genus.

The trajectory of cost reduction in DNA sequencing suggests that this project will be feasible within a few years. Capturing the genetic diversity of vertebrate species would create an unprecedented resource for the life sciences and for worldwide conservation efforts (


- $1,000 Personal Genome Coming: Are We Ready?,, April 29, 2010

- Clinical assessment incorporating a personal genome. Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB. Lancet. 2010 May 1;375(9725):1525-35. PMID: 20435227

- The personal genome--the future of personalised medicine? Samani NJ, Tomaszewski M, Schunkert H. Lancet. 2010 May 1;375(9725):1497-8. PMID: 20435212

- Challenges in the clinical application of whole-genome sequencing. Ormond KE, Wheeler MT, Hudgins L, Klein TE, Butte AJ, Altman RB, Ashley EA, Greely HT. Lancet. 2010 May 15;375(9727):1749-51. PMID: 20434765

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