Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Will Celera's New KIF6 Deal With Abbott Finally Generate Some Cash?
Celera has hired Abbott to exclusively distribute in Europe its KIF6 genotyping cardiovascular assay for use on Abbott's m2000 platform.
The test and the platform are both CE-marked. The KIF6 test is the first of Celera's cardiovascular genetics products to be CE marked, the company said.
The real-time PCR-based KIF6 assay can help identify individuals at risk for coronary heart disease, and patients for whom statin treatment is being considered.
Though financial details of the four-year agreement were not disclosed, it could be more fruitful than the piecemeal strategy Celera has been following for the test in the US.
Back in March, Celera, conceding that neither it nor its Berkeley HeartLab business, which performs the test, have the resources to grab the "sizeable market potential" for its cardiovascular genetic-testing assets, the company began "assessing options to better leverage" them, which could include penning "a broader partnership or alliance."
The Abbott deal is surely one of such "broader partnership or alliance[s]." And for Celera it's about time. As I've written before, the company has been stingy with the test, which is the crown jewel of its cardiovascular assets.
The assay, available in the US since July 2008 and in the EU since June 2010, is well regarded by most lab managers and cardiologists, and Celera continues to invest in it, most recently by hiring 23 new sales reps to hawk it in different US markets.
Yet despite these advantages and investments, only one non-Celera lab in the US to date managed to secure a license to develop an LDT, and only three other non-Celera facilities currently offer it on a send-out basis.
In January, Celera spokesperson David Speechly told me the reason for the slog has to do with geography, markets, and Celera's desire to not cannibalize its own market share.
He said Celera does want to see KIF6 testing offered, if not necessarily performed, in every US lab or cardiologist's office — and with 180 million people estimated to be carriers of the SNP it's no secret that it could buoy Celera's top line.
"We're working on getting KIF6 to more patients," Speechly told me. "Our objective is to get [KIF6] out into broader use that complements, not competes with, Berkeley HeartLab."
Yet the KIF6 test remains mired in a market quandary. During Celera's fourth-quarter earning report in March, Celera CEO Kathy Ordonez conceded that the company's marketing weakness has acted as ballast for the KIF6 test, suggesting that the test's opportunities, at least in the US, exceed Celera's current commercial reach.
"We’re therefore assessing options to better leverage our scale and expand our commercial reach — through a broader partnership or alliance — in order to better address the sizeable market potential associated with these assets," Ordoñez said at the time.
You'll recall that this was the quarter during which KIF6's weak market presence also contributed to the 25-percent decline in BHL revenue. (Celera attributed the slide to lower reimbursement rates and reduced sample volume at the CLIA lab).
More recently, earnings for the quarter ended June 30 showed that BHL receipts plummeted 22 percent to 19.6 million year over year. The decline, which was blamed on a 23-percent decline in sample volume, was "adversely impacted by competitive pressures" and forced Celera to cut its 2010 revenue outlook.
Now with the Abbott deal in place, and considering that the drug and diagnostics giant employs nearly 90,000 people worldwide and markets tests and other products in more than 130 countries, Ordoñez is betting that the alliance will make the KIF6 test more widely available, at least in the European Union.
"We believe the combination of Abbott's marketing reach, expertise in cardiovascular disease and the widespread placement of the m2000 presents a good opportunity for this test to impact the personalized treatment of cardiovascular disease," she said in a statement today.
If only Celera had such a partnership in the US.
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