When Genaissance Pharmaceuticals decided to acquire DNA Sciences last spring, it was hoping to become the first pharmacogenomics shop to provide haplotyping services and sell CLIA- and GLP-approved diagnostics.
Genaissance may meet this goal if it fulfills a promise to launch a pediatric diagnostic next month that detects mutations linked to familial long QT syndrome, which predisposes individuals to sudden cardiac death. The Connecticut company is also banking that this test, the first of what it hopes will become a suite of similar products, will enable it to play in a market that may be worth between $20 million and $40 million.
Genaissance is able to plan these steps following a collaboration with the University of Rochester and the Mayo Clinic, announced this week. Short term, this partnership has three distinct goals: First, Genaissance plans to use its haplotyping platform and five genes obtained from DNA Sciences to develop a molecular diagnostic that can detect cardiac ion channel mutations linked to familial long QT syndrome.
The collaboration will also fulfill the need by Mayo and Rochester to divest their disease-associated mutations and clinical samples. Lastly — and perhaps most importantly for the pharmacogenomics company — Genaissance hopes to use this new technology to approach drug makers that may have been forced to scuttle or shelve compounds known to induce QT prolongation.
“It is our intention to build a pharmacogenomics franchise” around the genetics of cardiac conditions such as long QT syndrome, said Richard Judson, senior vice president and chief science officer of Genaissance. “We believe there is an opportunity to bridge our knowledge of long QT syndrome to drug-induced QT prolongation, which has led to the withdrawal of ... well-known drugs from the market.”
Genaissances’ knowledge of long QT — not to mention its short-term survival to this day — can be traced to its acquisition of DNA Sciences last spring for $1.3 million [see 5/16/2003 SNPtech Pharmacogenomics Reporter]. DNA Sciences owned a rich IP estate centered on the familial and acquired forms of prolonged QT intervals, which it had licensed from Yale and the University of Utah. Since the acquisition, Kevin Rakin, CEO of Genaissance, had promised last spring that “this area will be a major area of opportunity for drug-response pharmacogenomics.”
Since then, Ben Kaplan, Genaissance’s CFO, has said the prolonged QT IP can “create significant value” and hinted that the company plans to spend a good deal of its R&D dollars on developing long QT products. In an interview with SNPtech Pharmacogenomics Reporter in September, he even hinted that the company has “seen substantial interest from a large number of parties about [the long QT] program.” [See 9/4/04 issue.] But until now, Genaissance had been debating internally whether to develop the technology wholly in-house, or to sign on a collaborator.
The Mayo Clinic and the University of Rochester bring to the table clinical samples and associated data and IP connected with familial long QT syndrome. In fact, Mayo and “a number of academic centers” currently offer a molecular diagnostic for familial long QT, according to Judson, and these groups use the same Yale/Utah IP as DNA Sciences had. Judson said most of the labs that offer tests are not CLIA certified, but rather test patients under traditional research protocols. “Those labs will get out of the business, and they’ll be happy to get out of it because they’re essentially doing it on their research grant,” he said. “They’re not getting paid for [the tests they perform].”
Michael Ackerman, associate professor of medicine at the Mayo Clinic College of Medicine, explained that there are “a handful of research laboratories in the United States, and a couple others throughout the world that have been doing long QT genetic testing … as IRB-approved research tests.” However, because these findings have clinical importance, “many of those IRBs have permitted these results to be disclosed to the families, and used for clinical information and dissemination.” Most IRBs stipulate that researchers have a “duty” to share clinically relevant information with patients, he said.
Judson said the company has not yet been able to pinpoint the size of the market they are hoping to play in. He said the test will cost “several thousand” dollars, and that Genaissance will perform it in its New Haven CLIA facility beginning next month. The company will market it to pediatric cardiologists and electrophysiologists. Ackerman said physicians can expect to receive results four to eight weeks.
Today, there are between 60,000 and 100,000 carriers of the mutation in the United States, and it is believed that some 3,000 carriers are born every year. That plants the initial market size somewhere between $20 million and $40 million. “Ultimately, we’d like to get through all those people, but it’s going to take a number of years,” Judson said.
He also said the reimbursement landscape is “very complicated” and that Genaissance will need to communicate with each patient’s insurance company on a case-by-case basis.
Genaissance next hopes to parlay this IP and technology into drug-induced QT, which can be caused by 50 or so drugs currently on the market. “This is a huge issue for the [US Food and Drug Administration] and pharma companies,” said Judson. He explained that “half of all drugs that have been withdrawn from the market in the United States in the last decade were withdrawn for this reason.”
“There’s been a lot of anecdotal evidence that are common variants in these genes that predispose people to have drug-induced long QT,” he said. “So we’re putting in some research dollars to try to prove that link and develop tests or services that can be used for the drug industry — which is a much bigger market than the familial market.”
About 1 in 5,000 people are born with a genetic predisposition to a prolonged QT interval, according to the Mayo Clinic’s web site. Though Genaissance will be working with only five genes, it is believed that there are at least six genes associated with the syndrome — “and likely more,” the Mayo said.
It is known that certain drugs can increase an individual’s risk of developing a prolonged QT interval, including certain antibiotics, antidepressants, antihistamines, diuretics, cardiac drugs, antihypercholesterolemia drugs, insulin, antifungals, and antipsychotics.