A Diagnostics & Imaging Week

deCODE genetics (Reykjavik, Iceland) reported the launch deCODE MI, a reference laboratory test for variations in the genome (called SNPs) that the company has associated with increased risk of myocardial infarction, or heart attack.

The variants detected by deCODE MI are two SNPs on chromosome 9p21. They were discovered by company scientists earlier this year through genome-wide SNP analysis in Iceland and replicated in three cohorts of European descent from Philadelphia, Atlanta, and Durham, North Carolina.

Of the 17,000 patients and control subjects in the study, more than 20% of participants carried two copies of the variant, corresponding to a more than 60% increase in risk of heart attack, regardless of age of onset, compared to those without the variant.

In early-onset cases — men and women who suffered a heart attack before the ages of 50 and 60, respectively — carrying two copies of the variant corresponds to an approximate doubling of risk compared to non-carriers. The variant is estimated to account for about one-fifth of the incidence of heart attack in populations of European origin, and nearly one-third of early-onset cases, making it the one of the most significant genetic risk factors found to date for heart attack, the company said.

deCODE said other researchers have replicated this finding in several European, U.S. and Canadian cohorts.

“With the launch of deCODE MI, we have taken another of our breakthroughs in genetics and transformed it into a new tool in the fight to prevent heart attack,” said Dr. Kari Stefansson, CEO of deCODE. “While many risk factors for heart attack are understood, the disease remains the leading cause of death in the industrialized world and the early-onset cases often take both patients and doctors by surprise.”

Stefansson said deCODE MI tests for a genetic risk factor that is independent of other risks such as cholesterol, obesity and smoking, “and therefore provides a means of identifying individuals who may derive particular benefit from earlier and more aggressive prevention efforts.”

deCODE MI is performed in deCODE’s CLIA-certified laboratory and must be authorized by a qualified physician.

Perlegen in license for breast cancer markers

Perlegen Sciences (Mountain View, California) said it has obtained an exclusive license from Cambridge Enterprise, the commercialization office of the University of Cambridge in the UK, to the breast cancer markers identified through collaborative research between the parties that was previously reported in February 2005.

The study identified breast cancer susceptibility markers that are present in about 20% of UK breast cancer cases. By comparison, previously identified genetic variants such as in the genes BRCA1 and BRCA2 are much rarer, occurring in less than 5% of breast cancer cases.

Although common, these risk alleles — forms of DNA sequenced at a specific location — confer somewhat less overall risk than other described markers, doubling breast cancer risk in cases which have two copies of the variants vs. those with none.

Perlegen will commercialize a diagnostic test, either directly or through a sub-license agreement with a third party. Cambridge University and Cancer Research Technology (CRT), whose parent organization is Cancer Research UK (London), will share in any financial returns. Cambridge University also may provide non-commercial licenses to academic researchers.

The results of the collaboration were published in June in the journal Nature in a study reported by Douglas Easton et al. That study, termed “the most comprehensive study of breast cancer genetics ever conducted,” was based on reading the DNA of more than 50,000 women.

The samples used in the study were coordinated by the researchers at Cambridge University through a variety of clinical collaborators around the globe. Perlegen genotyped the samples to determine the genetic variation in each sample. Funding was provided by Cancer Research UK.

In announcing Perlagen’s receipt of a license for commercialization, the parties said that more than 1 million women are diagnosed annually with breast cancer. “The near-term diagnostic, and possibly longer-term therapeutic, application of these findings could benefit breast cancer patients through improvements in prevention, earlier detection and ultimately treatment of breast cancer,” the statement said.

“The next step for this research is to translate our greater understanding of the genetic basis of the disease into new technologies that will directly benefit breast cancer patients,” said Keith Blundy, CEO of CRT.

“We look forward to further developments in this field, which ... will hold the promise of improving the healthcare for the many women with these novel susceptibility genetic markers,” said Bryan Walser, CEO of Perlegen Sciences.

Dr. Iain Thomas, head of life sciences at Cambridge Enterprise Ltd., added: “One in nine women in the UK will be diagnosed with breast cancer. We hope the results of this study will make an important difference for many of these women.”

Hepatitis test kits get retail sale in SE Asia

Medical Services International (MSI; Edmonton, Alberta) said it has agreed to supply VScan Hepatitis B & C test kits for retail sales in Southeast Asia through retail pharmaceutical outlets.

MSI said it projects that it will sell up to 50,000 hepatitis test kits in the first year.

The company said the number of people who have hepatitis C but don’t know they have it is estimated by the World Health Organization (Geneva, Switzerland) at more than 200 million and increasing each year.

“Having access to a hepatitis test kit where an individual can test himself in the private will be a substantial help to controlling the spread of the disease,” the company said.