Diagnostics & Imaging Week International Correspondent
and D&IWs

LONDON — A genetic variant has been identified that can increase the risk of myocardial infarction (MI) by more than 60% among people who have two copies of it. The variant, a single nucleotide polymorphism (SNP) that has been tracked down by scientists at DeCode Genetics (Rykjavik, Iceland), with collaborators in the U.S., will form the basis for a test that will soon be available to assess someone’s inherited risk of MI.

Drug development also could benefit. Knowledge of where the SNP lies in the genome may help in pinpointing targets for drugs to prevent MI, the researchers predict.

Kari Stefansson, CEO of DeCode, told Diagnostics & Imaging Week’s sister publication BioWorld International, “This is a pretty exciting discovery. This variant has a very large effect, on a disease that causes many deaths in our society.”

A paper reporting the finding, titled “A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction,” was published online by Sciencexpress May 3.

DeCode is planning to make a test available “later this year,” Stefansson said. This would make it possible to send off a blood sample to a reference laboratory to find out information about someone’s genetic predisposition to coronary artery disease.

The company also is working with Illumina (San Diego), to develop a diagnostic kit that clinicians could use on site. Such a kit would use “the simplest of SNP genotyping technology”, Stefansson said.

DeCode estimates that the variant accounts for around one-fifth of MI’s in populations of European origin, and nearly one-third of early-onset cases, making it one of the most significant genetic risk factors found to date for heart attack.

Stefansson and his colleagues began by identifying SNPs in Icelandic patients with MI, and looked at the disease compared with controls that did not have a history of coronary heart disease. They also used data from the international HapMap Project to identify additional SNPs.

They then focused on a single SNP, which had the highest association with myocardial infarction. This SNP, called rs10757278, lies on chromosome 9p21, close to two tumor suppressor genes called CDKN2A and CDKN2B.

The study showed that the association of this SNP with MI held true for three cohorts of European descent from Philadelphia, Atlanta, and Durham, North Carolina. Of more than 17,000 patients and control subjects in the study, more than 20% carried two copies of the variant, corresponding to a more than 60% increase in risk of heart attack compared to those without the variant.

Stefansson said: “For men over the age of 40 years, the lifetime risk of a heart attack is already 49 percent. But when you find a variant that increases that risk by over 50 percent, it means that the absolute risk of disease if you have that variant is very large. The variant is also strongly associated with early-onset myocardial infarction. This is important in terms of the clinical utility of this finding, as the clinical significance of a risk is much greater when it is conferred to the person at an early age.”

DeCode will be trying to find out by what mechanism the genetic variant confers an increased risk. “We want to better understand the biochemical pathways that are affected by this variant,” Stefansson said.

Puffenberger to head Barnev North America

Barnev (Cleveland, Ohio), developer of the Computerized Labor Monitoring (CLM) system, has named James Puffenberger president and director of sales and marketing, heading up the company’s newly announced North American operations to be based in Cleveland.

Puffenberger has more than 25 years of experience in the medical device, medical imaging and pharmaceutical industries, including assignments with Johnson & Johnson, Advanced Technology Laboratories and Philips Medical Systems. While with ATL/Philips, he served as vice president of sales for a $120 million business unit.

Barnev CEO Yossi Machtey said Puffenberger’s appointment helps position Barnev for the next phase of its development “Jim’s knowledge of and achievements in the medical industry will accelerate Barnev’s market penetration goals,” Machtey said.

Machtey indicated that Barnev would conduct its international sales, marketing, investor recruitment and related activity from its office in Cleveland while continuing its research and development in Netanya, Israel.

The CLM system is a labor progression monitoring device based on ultrasound technology. It continuously reports on cervical dilation and fetal head station, measurements that are crucial data points used by medical professionals to indicate the progress of and developments in the delivery of infants. They also help clinicians anticipate potential difficulties in the labor process.

Barnev was founded in 1998 in Israel. The company reported in February receiving FDA clearance for the CLM system use in the active stage of labor.

DMS reports robust growth in scanners

Diagnostic Medical Systems (DMS; Montpellier, France), a manufacturer of medical scanning equipment, reported that it is back in the black and in a recent statement reported that it is ahead of its plan to realize 20% growth in revenues for 2007. Caught in a cash squeeze in early 2006, the company was unable to meet production schedules for contracted equipment.

A stock offering in September 2006 raised EUR 8.3 million ($10.3 million) against pledges to reduce fixed costs and increase sales. In April, DMS reported first-quarter sales of 16.2 million ($8.6 million), an increase of 63%, boosted by contracts in Japan and Europe.

DMS’s cash problems were linked to the development in 2005 of a sophisticated new product, Paladio, a digital sensor composed of a cooled high-resolution charge-coupled device (CCD) camera with a high reading frequency and a chain of high-performance and automatic images processing which allows immediate visualization of the image and facilitates the interpretation.

Current sales activity boosting the company’s financial performance are linked to traditional products. The company confirmed in April that it had won a European contract for 14.8 million ($6.7 million) for remote-controlled radiology tables, sales that will be invoiced in the second and third quarters. DMS said it is in discussions with the same customer for a second contract valued at 1800,000 ($1.1 million).