Genomics in the Scientific Literature [8] - Personalized Medicine

Personalized Medicine
1. Only connect: personal genomics and the future of American medicine
Angrist M
Mol Diagn Ther 2010 Apr;14(2):67-72

Mol Diagn Ther. 2010 Apr 1;14(2):67-72. doi: 10.2165/11534710-000000000-00000.
Only connect: personal genomics and the future of American medicine.
Angrist M.

Institute for Genome Sciences & Policy, Duke University, Durham, North Carolina 27708-1009, USA. misha.angrist@duke.edu
Abstract
Access to one's own complete genome was unheard of just a few years ago. At present we have a smattering of identifiable complete human genomes, but the coming months and years will undoubtedly bring thousands more. What will this mean for the practice of medicine in the US? No one knows, but given the remarkable drop in the cost of DNA sequencing over the last few years, it seems a safe bet that within the next decade, primary care physicians will order patients' whole genome sequences with no more fanfare than they would a complete blood count. But the challenges of transforming that easily accessible information into cost savings and better health outcomes will be daunting. Obviously, we lack interpretive abilities and phenotypic information commensurate with our skill in amassing DNA sequences. Worse, we have exacerbated these problems by failing to embrace the increasing ubiquity of genomic information, the populace's interest in it, and its relevance to virtually every medical specialty. The success of personal genomics will require a profound cultural shift by every entity with a stake in human health.

PMID: 20359249 [PubMed - in process]
http://www.ncbi.nlm.nih.gov/pubmed/20359249?dopt=Abstract


2. Prasugrel, Maori, and personalised medicine in New Zealand
Gladding P, et al.
N Z Med J 2010;123(1310):86-90

N Z Med J. 2010 Mar 5;123(1310):86-90.
Prasugrel, Māori, and personalised medicine in New Zealand.
Gladding P, White H, Webster M.

Green Lane Cardiovascular Service, Auckland City Hospital, Private Bag 92024, Victoria St West, Auckland 1142, New Zealand. patrickg@adhb.govt.nz
Abstract
The response to thienopyridine antiplatelet therapy is heterogeneous and is in part explained by clinical and genetic factors. A recent meta-analysis has demonstrated the clinical significance of a genetic polymorphism in the cytochrome P450 2C19 gene. Carriers of this polymorphism have a higher incidence of stent thrombosis and cardiovascular death, whilst on the thienopyridine clopidogrel. The polymorphism and rarer variants display higher carrier frequencies in ethnic groups with disproportionate cardiovascular mortality, such as Māori. Knowledge of an individual's genetic status may assist in optimising antiplatelet therapy, thereby reducing the cost of adverse events, expenditure on new medicines, and the ethnic disparities seen in healthcare outcomes. A demonstration of the cost-effectiveness of genetic testing, on a population basis, and a proven alternative, personalised strategy is required before the adoption of this technology can be advocated.

PMID: 20360782 [PubMed - in process]
http://www.ncbi.nlm.nih.gov/pubmed/20360782?dopt=Abstract