Originally published June 11.
By Turna Ray
People around the country interested in getting genetic testing will soon be able to visit a one-stop online hub that will connect them to doctors specializing in personalized medicine, as well as a clinical laboratory providing testing.
GeneticHub is a joint venture of the Personalized Medicine Group and the Private Health Corporation that will officially launch in the next month. Steven Murphy, founder of the Personalized Medicine Group, introduced GeneticHub at the Consumer Genetics Conference in Boston last week, describing the portal as an online resource for people around the country seeking doctors with genetic expertise and a high-volume clinical laboratory with appropriate certifications to conduct genetic testing.
The resource is an attempt to fill a knowledge and access gap in genetics that has threatened broad adoption of genetic testing into healthcare. Many locations around the country do not have access to laboratories or medical centers that do genetic testing. And while the lack of genetic expertise among practicing healthcare providers was already well known, a recently released draft report from an HHS advisory committee illustrates how seriously unprepared even the next generation of doctors are in interpreting patients' genomic data.
The service is currently focused on CYP2C19 testing for Plavix, and Laboratory Corporation of America is so far the only lab contracted with GeneticHub to conduct the test, Murphy told Pharmacogenomics Reporter. However, as GeneticHub matures, it plans to offer additional tests and more labs will be invited to join the effort.
The CYP2C19 enzyme converts the anti-platelet agent Plavix into its active form allowing patients to metabolize the drug. Patients with reduced CYP2C19 function are poor metabolizers of Plavix, marketed by Bristol-Myers Squibb and Sanofi Aventis. These poor CYP2C19 metabolizers are at a greater risk of cardiovascular events when treated with Plavix after a coronary event than normal metabolizers of the drug.
The US Food and Drug Administration in March issued a black box warning on Plavix's label informing patients and healthcare providers of the increased cardiovascular risks that poor CYP2C19 metabolizers have when treated with the drug (PGx Reporter 03/17/10).
There are hospitals around the country conducting CYP2C19 testing ahead of Plavix administration in cardiovascular patients. The most well-known of these efforts is Scripps Green Hospital in San Diego, where Eric Topol, chief academic officer of Scripps Health is leading the effort to test stent procedure patients for their CYP2C19 status using Quest's testing service (PGx Reporter 10/28/09). Unlike the web-enabled GeneticHub, these efforts at brick-and-mortar hospital centers are restricted to serving patients at a particular locale.
Customers interested in CYP2C19 testing would use GeneticHub to locate a doctor who could provide information about the test and its implications. The customer would hold a 15-minute consultation with the doctor before receiving testing through LabCorp.
This consultation is not meant to replace customers' ongoing interaction with their primary physicians, but it seeks to provide additional guidance with regard to genetic testing.
Particularly if a patients' current doctor is uncomfortable recommending genetic testing or lack the expertise to provide such guidance, the physician can direct the patient to GeneticHub or contact a GeneticHub doctor doing the referral without being a participating physician.
Currently, there are four doctors affiliated with the hub, who will consult with patients interested in learning about their CYP2C19 status. Murphy is approaching doctors on a "select basis" and extending them invitations to join the hub. In recruiting doctors for GeneticHub, Murphy is looking for healthcare providers who have shown "excellence in the field" of personalized medicine, have board certification, and are located in areas that lack genetic testing expertise.
For the time being, GeneticHub will only be facilitating physician consultations and genetic testing to gauge patient responses to Plavix. In the future, GeneticHub will offer counseling and testing for warfarin sensitivity, tamoxifen, and hereditary cancer, such as BRCA gene mutation testing for hereditary breast and ovarian cancer. In the latter case, GeneticHub would offer pre-testing consultation as well as post-testing counseling.
As with all patient-doctor exchanges, GeneticHub will keep private all patient information garnered through physician consultations and genetic testing.
GeneticHub charges patients $299 for the consultation and testing together. Murphy said he is looking to sign on payors willing to pay for prior authorized CYP2C19 tests immediately, not with the 30-day lag as is the norm. "If we can find good third party payment that will be immediate, we will accept insurance," Murphy said.
CYP2C19 testing ranges from between $200 and $400 depending on the laboratory providing testing. Several direct-to-consumer genomics firms also test for CYP2C19 status as part of their gene scans gauging customers' response to a range of drugs and their predisposition to various diseases. Consumers can learn of their CYP2C19 status through 23andMe's $429 Health Edition genome scan; Navigenics' $999 Health Compass or $499 Annual Insight service; and Pathway Genomics' Drug Response Report for $79.
These DTC services provide customers genetic counseling as part of the package. Navigenics has a physicians' program for doctors who want to incorporate genetic testing as part of their patients' annual exams.
Although GeneticHub is still in its planning stages, in conceiving the effort, the rapidly evolving field of personalized medicine has presented Murphy with some challenges.
According to Murphy, the initial plan for GeneticHub was to connect consumers interested in genetic testing with doctors with genetics expertise and a DTC genomics company who could provide the testing. However, those plans had to be amended after the DTC genomics industry came under criticism after Pathway Genomics announced plans to launch its saliva sample collection kit in Walgreens and CVS Caremark retail pharmacy stores.
Pathway's move from Internet to retail seemed to take the US Food and Drug Administration by surprise. The agency last month sent a letter to Pathway asking the firm to explain why the genome scan it is marketing through its DTC service has not been cleared by the FDA. Shortly thereafter, the House Committee on Energy and Commerce announced it was investigating three DTC genomics firms: Pathway, 23andMe, and Navigenics (PGx Reporter 05/26/10).
With the shadow of regulatory uncertainty cast over the DTC genomics industry, Murphy decided to go with a clinical laboratory, such as LabCorp, when it came time to launch GeneticHub. But then, last week, 23andMe disclosed that LabCorp had mixed up the test results for 96 of its customers (PGx Reporter 06/09/10).
23andMe told its customers this week that the batch of mismatched records loaded on June 1 was due to "human error" and the "incorrect placement of a single 96-well plate" used in processing samples at LabCorp.
"We know these lab problems happen … [but] of course, we're concerned" about this mishap, Murphy told PGx Reporter. Both LabCorp and 23andMe have said they are putting in new quality control measures to minimize similar mistakes in the future. This bodes well for the industry and GeneticHub, as this mistake probably "shook up" LabCorp to be more careful, Murphy said. Since GeneticHub is "lab agnostic," Murphy added that in the coming months other labs, and maybe even DTC genomics firms, would be invited to join.
Additionally, since GeneticHub is only doing clinical testing linked to medical outcomes, and not the genome-wide SNP testing that is currently the focus of DTC genomics firms, LabCorp will have to take special quality control measures required by law that will hopefully help avoid mix ups like those at 23andme, Murphy said.
DTC genomics firms are of the view that everyone has a right to their genetic information without a doctor as "gatekeeper." Furthermore, most DTC genomics firms maintain that their services aren't providing medical advice, and as such should not be regulated as medical tests.
Murphy, a vocal critic of DTC genomics firms in this regard, believes that everyone should have access to genetic testing but should also receive guidance from a medical professional to explain what test results mean for their health and wellness.