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Genetics and Public Policy Center, Celera, Abbott, AltheaDx, DxS, Navigenics, American College of Preventive Medicine, Decode Genetics, Myriad Genetics, Clinical Data, Brigham and Women’s Hospital, MDx

Policy Center to Use NHGRI Funds to Study Direct-to-Consumer Genetic Testing
In order to get a sharper picture of the state of the new direct-to-consumer genetic testing industry — how it works, what its players claim to do, and what buyers expect from these services — the National Human Genome Research Institute has asked the Genetics and Public Policy Center to conduct studies under a $600,000 grant.
Under the funding, the GPPC at Johns Hopkins University will study issues related particularly to the ways in which offering genotyping tests and services directly to customers — as companies such as Navigenics, Decode Genetics, and 23andMe do — differs from genetic testing offered by healthcare providers.
"There is a lot of hype and a lot of angst about how personal genome testing will play out in healthcare," GPPC’s Law and Policy Director Gail Javitt said in a statement. "Ensuring that the public has information adequate to making informed choices about genetic testing is a prerequisite to realizing the public health benefits that have been promised from genetic medicine.”
She added, "What's missing are hard facts about this industry and its consumers, and what the public's motivations for, and experiences with, these tests have been."
The GPPC plans to analyze the current regulations that cover marketing, advertising, and selling of genetic testing directly to consumers, and they will attempt to study the validity of the claims sellers make in their advertising by comparing them to scientific literature.
“We seek to get at what are consumers’ motivations for using these tests, and then what they feel they have gotten after using these tests,” Javitt told PGX Reporter’s sister publication GenomeWeb Daily News last week.
Another question that Javitt told GWDN is important is how the utility of a DTC test can be measured.
Javitt said that it is important to “give credence to consumers’ interest,” and to understand “both the potential benefits and the potential harms from this mode of test delivery.”
This is a question that has been brought up by federal and state regulators who have begun to consider whether or not tests and services that show the presence of a genetic mutation that have been linked with levels of risk or predisposition toward an illness are usable.
“Does it change behaviors? And if so, how?” Javitt asked. So far, Javitt explained, those matters have not been explored in a study.
The researchers at GPPC also will look at how state laws attempting to cover this very new field allow “some incoherence and lack of uniformity.” The center also will conduct some legal analysis that supports coordinated efforts to protect consumers, Javitt explained.
GPPC is currently drafting how these studies will be structured, and their work will not be complete until some time late in 2010. Until the information from these studies is released, there are questions about how to best structure studies of such a new and still small field.
“So few people are paying for these products that some sort of survey result can easily be skewed,” Amy Miller of the Personalized Medicine Coalition told GenomeWeb Daily News last week. Miller is concerned that when the small scale of this industry is coupled with the low response rate of consumers, that “there is not going to be a large enough population to get really valid results.”
The non-profit PMC is a group that represents companies, academics, patient groups, and others that are focused on advancing personalized medicine, including pharmacogenomic and genetic testing.
When it comes to using scientific literature to study the validity and utility of these tests, “How much literature does there have to be?” Miller asked.
Another question is how risk is calculated and presented to consumers, Miller added. “Different companies do lifetime risk differently; some use ten-year risk and some use lifetime risk,” in their assessments of how genetic disposition works, Miller explained.
The three companies mentioned above, Miller said, are currently preparing white papers to describe more about their methodologies for a December meeting at the Center for Disease Control and Prevention’s Office of Public Health Genomics.
— By Matt Jones, first published on GenomeWeb Daily News

Celera, Abbott To Seek Genetic Markers of Response to Abbott Compound
Celera and Abbott are collaborating on a project to identify genetic markers for an undisclosed investigational compound under development at Abbott, Celera said this week.
The partners plan to determine whether genetic variants Celera has identified can predict how patients may respond to treatment with the drug.
Under the terms of this collaboration, Abbott will pay Celera an undisclosed fee to perform the study. Any companion diagnostic product resulting from the study could be developed by Celera and commercialized through its ongoing alliance with Abbott.
“The results of this study will provide new information on the correlation between genetic markers associated with disease and response to therapy,” said Thomas White, chief scientific officer at Celera, in a statement. “Routinely testing this general concept in early clinical trials may give us new and important insights to personalizing disease management.”

AltheaDx to Offer DxS' K-RAS Test in US
AltheaDx will distribute DxS’ genetic assay for K-RAS mutations for use in clinical studies in the US, Manchester, UK-based DxS said this week.
Under the agreement, AltheaDx will provide study centers in the US with the K-RAS Mutation Test kit to aid in clinical research in which patients are assessed for their mutation status, which can be an indicator of treatment needs.
The assay screens for mutations in the K-RAS gene, which is mutated in around 35 percent to 45 percent of metastatic colorectal cancer cases, and in a variety of other cancers. Patients with the mutation do not respond well to two common EGFR inhibitor cancer drugs. 
“The DxS kit will enable AltheaDx to offer K-RAS analysis for future clinical trials, in order to further advance the developments that have seen patients being prescribed the appropriate targeted cancer based on their genetic profile,” AltheaDx CEO David Macdonald said in a statement.
The National Comprehensive Cancer Network also this week recommended that cancer doctors determine patients’ K-RAS status as part of a pre-treatment work-up for colon cancer patients.

Navigenics Teams with ACPM on Genetic Risk CME Course
Consumer genomics firm Navigenics said this week that it is providing an unrestricted educational grant of an undisclosed amount to the American College of Preventive Medicine to develop a continuing medical education course entitled, “Genetic Risk, Screening, and Intervention.”
The course will seek to “improve physicians’ understanding of genetic risk factors for disease, the current evidence about the use of genomic tools and technologies to determine risk, and promising practices for utilizing those tools to aid in disease prevention,” the partners said in a statement.
They said that ACPM is working with its members and national experts in genomics, prevention, and epidemiology to design the course. ACPM expects the program to compare the evidence for genetic screening and risk factors to epidemiological approaches typically used to identify disease risk; explore the potential benefits and harms derived from different types of genetic tests; and examine current evidence around genome-wide association studies and provide a framework for evaluating the quality of such studies.
The course is expected to be available on the ACPM website and on DVD-ROM in early 2009.

Decode Genetics Seeks Hearing Before Nasdaq Listing Panel
Decode Genetics said this week that it has requested a hearing before a Nasdaq Listing Qualifications Panel to present its plans for regaining compliance with a Nasdaq market rule regarding the market value of its stock.
The Reykjavik, Iceland-based firm received a letter from Nasdaq in early October stating that for 10 consecutive trading days the market value of its common stock was below $50 million, the minimum level required for continued listing on the Nasdaq Global Market. The firm’s shares also did not comply with an alternative test set forth by a Nasdaq rule, which requires total assets and total revenue of $50 million each for the most recently completed fiscal year or two of the last three fiscal years. 
According to that letter, Decode’s stock is subject to delisting at the opening of business on Nov. 11, if it doesn’t regain compliance. Decode said that its shares would continue to be listed on the exchange pending conclusion of its hearing, which is expected to take place within 45 days. The firm also noted that the Nasdaq panel has the discretion to grant a listing extension for up to 180 days from the date of staff notification for the company to regain compliance with regulations.
Decode said that it may apply to transfer its securities to the Nasdaq Capital Market if it satisfies the continued inclusion requirements for that market, which include a minimum aggregate market value of listed securities of $35 million.
As Pharmacogenomics Reporter went to press, Decode’s market value of listed securities was $28.5 million, based on a trading price of $.46 per share.

Clinical Data Q2 Loss Rises Sharply on Acquisition Costs
Clinical Data this week posted a $70 million net loss for the second  quarter, resulting primarily from charges related to its August acquisition of Adenosine Therapeutics.
The Newton, Mass.-based firm reported revenues of $8.8 million for the three-month period ended Sept. 30, down 3 percent from revenues of $9.1 million for the second quarter of 2007. Excluding $1.8 million in grant revenue recognized by Cogenics Icoria during last year’s second quarter, Clinical Data’s revenues increased 22 percent year over year. Late last year, Clinical Data wound down Icoria product lines that are no longer providing revenue for the firm.
The firm said that its PGxHealth division had 127 percent revenue growth year over year to $2.2 million, driven primarily by sales of its Familion cardiac tests. Excluding the Cogenics Icoria grant revenue from 2007, Cogenics’ genomic service business revenues grew 5 percent to $6.4 million.
Clinical Data’s net loss for the quarter was $70 million, compared to a loss of $10.9 million for the second quarter of 2007. The firm took a charge of $52.1 million during the quarter related to in-process research and development tied to its acquisition of Adenosine Therapeutics in August.
Clinical Data’s R&D spending increased more than three-fold to $9.4 million, from $2.9 million, while its SG&A expenses rose around 17 percent to $10.9 million, from $9.3 million.
The company held cash and cash equivalents of $41.2 million as of the end of its second quarter.

Molecular Diagnostics Sales Propel Strong Q1 Results for Myriad Genetics
Myriad Genetics this week reported 53-percent revenue growth and a swing from a net loss to a profit for its first fiscal quarter, which ended Sept. 30.
The Salt Lake City-based firm brought in total revenues of $73.6 million for the quarter, compared to $48.3 million for the comparable period of 2007. Its molecular diagnostics sales jumped 52 percent to $70 million from $46.1 million, and its research and other revenue increased 68 percent to $3.7 million from $2.2 million.
“All five of our molecular diagnostic products exceeded the company’s 45 percent annual compound growth rate, and patient sample flow continues to be very strong, despite the current economic environment,” Myriad President and CEO Peter Meldrum said in a statement.
Myriad posted a profit of $14.5 million for the quarter, compared to a net loss of $8 million for the first quarter of 2007.
The firm’s R&D spending dropped 34 percent year over year to $17.1 million from $26 million, while its SG&A expenses increased 26 percent to $33.4 million from $26.5 million. Myriad attributed the increase in SG&A costs to “significant expenditures” toward its direct-to-consumer marketing campaign.
The company also noted that its women’s healthcare salesforce has increased to 100 representatives, while its total salesforce in the US is around 250 representatives.
Myriad finished its first quarter with $442.6 million in cash, cash equivalents, and marketable investment securities.

Source MDx, Brigham and Women's Partner on Multiple Sclerosis Biomarker Discovery
Source MDx has formed a partnership with Boston’s Brigham and Women’s Hospital to study RNA-based biomarkers for multiple sclerosis, the company announced last week.
The duo plans to use expression profiling to find diagnostic markers, markers for active or stable MS, and response markers for currently available MS therapies.
Multiple sclerosis has unpredictable and highly variable progression. Current methods for determining the stage of disease are imprecise, but some research suggests that gene expression profiles could help map disease progression and guide treatment, the companies said.
“Our objective is to evaluate RNA-based markers in the broader context of each patient’s genetics, protein markers, family history, and clinical information in order to determine markers that can help in making a diagnosis of MS and prognosticate on drug response in MS,” Brigham and Women’s Hospital neurology researcher Phil De Jager, co-leader of the study, said in a statement. “By doing so, we hope to be better able to identify makers that could lead to improved diagnostic tools, therapies, or treatment regimen.”
The research ties into ongoing work by De Jager and Brigham and Women’s molecular immunologist David Hafler and others in the International Multiple Sclerosis Genetics Consortium and Partners Healthcare MS Center.
Source MDx said that it has patented the use of gene expression data for identifying, monitoring, and treating MS. The company added that it has identified and patented MS gene expression biomarkers linked to MS in independent studies by De Jager and Hafler.

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