Category Archives: Pharmacogenomics

By Turna Ray

The US Preventative Services Task Force is seeking public comments on its systematic evidence review plan to assess under what conditions genetically testing asymptomatic women for their risk of developing hereditary breast and ovarian cancer has a positive impact on their health.

The USPSTF is in the process of updating its recommendation on BRCA mutation testing to gauge breast and ovarian cancer susceptibility. As part of that larger effort, it is calling for stakeholder input as it gathers evidence to answer specific questions on the risks and benefits of genetically testing asymptomatic women, who have a family history of breast and ovarian cancer but who themselves don't have these diseases.

The USPSTF's most recent recommendations on BRCA testing, issued in 2005, advise doctors against giving their patients routine referrals for genetic counseling or BRCA testing unless their family history suggests they might harbor mutations in tumor suppressor genes BRCA1 and BRCA2. The group recommends that if women have a family history that places them at increased risk for having these gene mutations, then doctors should refer them for genetic counseling and "evaluation for BRCA testing."

According to the National Cancer Institute, among Caucasian women in the US, between 5 percent and 10 percent of breast cancer patients and between 10 percent and 15 percent of ovarian cancer patients have BRCA1 and BRCA2 mutations. The risk of having these mutations is higher in women of Ashkenazi Jewish descent and those of Norwegian, Dutch, and Icelandic ethnicities. There is, however, limited data on how frequent these mutations occur among prevalent ethnic groups in the US, including African Americans, Hispanics, and Asian Americans.

"Although there currently are no standardized referral criteria, women with an increased-risk family history should be considered for genetic counseling to further evaluate their potential risks," the USPSTF notes in its 2005 recommendations. "Computational tools are available to predict the risk for clinically important BRCA mutations (that is, BRCA mutations associated with the presence of breast cancer, ovarian cancer, or both), but these tools have not been verified in the general population."

According to the USPSTF's proposal for comment, the group is seeking to gather evidence on whether BRCA testing reduces the incidence of breast and ovarian cancer, as well keeps women alive longer. Additionally, the USPSTF is seeking to gather data on how accurate physicians' risk assessment methods are for selecting which patients should receive BRCA mutation testing; what the benefits are of genetic counseling patients ahead of testing; and what the adverse effects of testing and counseling are.

USPSTF recommendations are carefully considered by private payors and factored into their coverage determinations for BRCA genetic testing. For example, Aetna in its clinical policy for BRCA testing cites the 2005 USPSTF recommendations to note that clinical models currently employed in medical practice for determining when women should receive genetic testing are based on women who already have cancer, and that the applicability of these models to screen asymptomatic or cancer-free women for BRCA testing is unknown.

"Available evidence suggests that current models for predicting BRCA mutation may tend to overestimate risk when family history is adequate and underestimate risk when family history is limited," Aetna states in the clinical policy. "Researchers have speculated that, in young women with limited family structures (i.e., fewer than two women who survived past age 45 in either parental lineage), the genetic models that are used to predict carrier status would underestimate the prevalence of BRCA mutations."

If USPSTF broadens its recommendations to include the asymptomatic population, it would certainly have a positive impact on Myriad Genetics' revenues for the BRACAnalysis test, the only commercially available genetic test that assesses BRCA mutations for hereditary breast and ovarian cancer susceptibility.

Read more:
USPSTF Updating BRCA Testing Recommendations for Asymptomatic Women; Accepting Public Input

By Turna Ray

The American Medical Association's Current Procedural Terminology Editorial Panel has approved Vermillion's application for a Category 1 CPT code for its OVA1 test.

According to a published summary of the panel's February meeting, the AMA "accepted establishment of code 814XX1 to describe the OVA1 test." The OVA1 test will also be listed in a new appendix for multi-analyte assays with algorithmic analysis, a subset of tests also known as in vitro diagnostic multivariate index assays.

The AMA decided a few months back that it would grant Category 1 codes to MAAAs that its CPT panel has vetted and found to meet a certain set of criteria. In addition to being listed under Category 1 codes, these tests will also be listed in a special section for MAAAs, called Appendix X. MAAAs that the AMA has not reviewed or that have not met coding criteria under Category 1 will only be listed in Appendix X. Tests in this appendix will be referenced by their proprietary names (PGx Reporter 11/9/2011).

At the February meeting, AMA's CPT panel added a new Category I subheading and guidelines in the "pathology and laboratory" section for MAAAs; established codes (ie. 81499X) to describe unlisted MAAAs with algorithmic analyses; established three new MAAA codes for listing in Appendix X; and revised its chemistry guidelines to include instructions for reporting unlisted MAAA codes.

Other than OVA1, the other two MAAAs that will be listed in Appendix X include a qualitative serum test that uses an algorithm to combine the results of two analytes and women's menopausal status into a numeric score, and a "diabetes pre-diagnostic risk screen" that analyzes multiple analytes to give a single risk score correlated with the probability of developing the disease.

The new MAAA codes will be effective Jan. 1, 2013.

According to Vermillion, in order to garner approval from the AMA for a Category 1 code, the company submitted several peer-reviewed publications on OVA1. Furthermore, the company said the fact that the test has been accepted for coverage by other payers, including Medicare contractor Highmark Medicare Services, also helped. "The new CPT code is a critical step in advancing the commercialization of OVA1, as we believe it will help streamline claims processing and accelerate further coverage and adoption by private payers," Vermillion CEO Gail Page said in a statement.

Currently there are three types of CPT codes payors use to process claims: Category I, II, and III. Many sponsors of IVDMIAs are currently using unlisted or miscellaneous codes under Category I to garner reimbursement for performed tests.

For example, Genomic Health's Oncotype DX is reimbursed with a miscellaneous CPT code and Agendia's MammaPrint uses the CPT code 84999 for "an unlisted chemistry procedure." Some MAAA providers claim to have good reimbursement through this process, but most have acknowledged that reimbursement agreements for tests with miscellaneous or unlisted codes have to be secured payor by payor, which is a costly and time-consuming process.

Follow this link:
AMA Approves Vermillion MAAA Category 1 Code for OVA1; Will it Improve Reimbursement?

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/aa887c/molecular_diagnost) has announced the addition of the "Molecular Diagnostics: Market Segmentation and Opportunities - 4th Edition" report to their offering.

Molecular diagnostics (MDx) are a class of in vitro diagnostic (IVD) tests that identify nucleic acids, such as DNA. MDx tests may identify nucleic acids that are the genetic material of foreign organisms (e.g., HIV genotyping, MRSA screening) or the genetic markers of an individual patient (e.g., Her-2 overexpression for breast cancer, Factor V Leiden for coagulation). MDx tests continue to be the fastest growing segment within the IVD space, driven by high sensitivity, fast turnaround time, easy workflow and relatively low-cost compared to other techniques, such as culture-based or immune-based tests.

MDx involves platforms and assays that leverage multiple technologies to identify genetic variations. Technologies utilized include; PCR (e.g., HBV qualitative screening; Roche) qPCR (e.g., MRSA screening; Cepheid), TMA (CT/GC screening; Gen-Probe), FISH (PathVysion Her-2; Abbott), capillary electrophoresis (CE) sequencing (e.g., BRAC 1/2 testing; Myriad Genetics), next generation sequencing (Trisomy21 test; Sequenom), microarrays (Amplichip, Roche) and a host of other methods (e.g., pyrosequencing, bDNA, hybrid capture, hybridization beads, kPCR, electrochemical detection).

Analysis from this report indicates that the -$5.9B MDx market (2011E) is expected to grow at >15% p.a. over the next 4 years, reaching $10.9B by 2015. MDx growth is expected to continue to be driven by increased incidence of chronic diseases due to an aging population, increased availability of various tests, and the further adoption of Pharmacogenomics / personalized medicine.

This report reviews the market size, growth, segments and trends of the MDx industry from 2007 through 2015. The market is segmented to provide insights on specific growth opportunities by therapeutic area (infectious diseases, oncology, HPV, others), technology (PCR, qPCR, TMA, hybrid capture, CE Sequencing, NGS, FISH, other), analytes tested (low and high plex level), test rationale (predisposition, screening, diagnosis, therapy selection, monitoring), test location (reference labs, academic hospitals, blood banks, other) and geography (U.S., Europe, Japan, rest of the world). Growth and growth drivers for each segment are quantified and reviewed.

Major competitors shaping the industry include BioPharma (e.g., Abbott, Roche), IVD/MDx pure-play companies (e.g., Myriad Genetics, Cepheid, Gen-probe) or research tool companies (e.g., Illumina, Life Technologies). Major competitors are reviewed along with their key platforms and underlying technologies.

MDx is a highly regulated space. IVD instruments/assays are treated as medical devices and often require 510(k)/IVD clearance to gain full adoption in the marketplace. We briefly review the various level of clearance for MDx tests.

Finally, this report explores opportunities and challenges in the MDx industry. In this fourth edition, we place an emphasis on NGS and its emerging adoption in clinical settings, as well as other emerging technologies (e.g., dPCR, CGH).

Key Topics Covered:

Read more from the original source:
Research and Markets: Molecular Diagnostics: Market Segmentation and Opportunities - Emphasis on NGS and Its Emerging ...

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) Transgenomic today reported 69 percent revenue growth year over year for the fourth quarter.

For the period ended Dec. 31, 2011, the Omaha, Neb.-based firm posted $8.6 million in revenues, up from $5.1 million a year ago. The Clinical Labs business recorded $4.6 million in revenue, Diagnostic Tools saw $3.5 million in revenues, and Pharmacogenomics had $500,000 in revenues.

Its R&D costs increased 60 percent to $568,000 from $354,000 a year ago, and SG&A costs rose 48 percent to $4.9 million from $3.3 million.

A net loss of $767,000, or $.02 per share, in Q4 2010 was turned into a profit of $263,000, or break-even on a per-share basis, in Q4 2011.

For full-year 2011, Transgenomic saw revenues climb to $32 million, up 60 percent year over year from $20 million in 2010. Clinical Labs revenue came in at $16 million, Diagnostic tools had $13.7 million, and Pharmacogenomics had $2.3 million.

Transgenomic decreased R&D spending 4 percent year over year to $2.2 million from $2.3 million but increased SG&A spending 76 percent to $19.2 million from $10.9 million.

The company had a net loss of $9.8 million, or $.22 per share, compared to a net loss of $3.1 million, or $.06 per share, in 2010. Transgenomic attributed the increase in net loss to an interest expense of $1 million and non-cash charges for preferred-stock valuation of $6.1 million, as well as amortization related to acquired intangibles and stock option expenses.

The firm ended 2011 with $4.9 million in cash and cash equivalents.

In a statement, Transgenomic President and CEO Craig Tuttle said that the year-over-year growth in 2011 reflected improvement in the firm's clinical reference lab and pharmacogenomics lab businesses.

View original post here:
Transgenomic's Q4 Revenues Increase 69 Percent

OMAHA, Neb.--(BUSINESS WIRE)--

Transgenomic, Inc. (OTCBB: TBIO.OB - News) today reported financial results for the year ended December 31, 2011 and provided a business update.

Transgenomic enjoyed a landmark year in 2011, with revenue growth quarter-over-quarter and year-over-year as well as an attention to expense management translating into positive modified EBITDA for both the fourth quarter and full year 2011 periods, said Craig Tuttle, President and Chief Executive Officer. Our year-over-year top line increase of 59%, to $32 million in revenue for 2011, reflects growth in both our clinical reference labs and pharmacogenomics lab businesses. These encouraging top- and bottom-line results were achieved without compromising our investment in the development of groundbreaking new technologies. Supporting our strategic direction, and adding substantially to shareholder equity, was a $22 million private placement financing executed last month with a number of top-tier life sciences investors.

Mr. Tuttle continued: 2012 promises to be yet another important year for growth and value creation, as we look to build momentum behind our recently launched products, including our proprietary clopidogrel response panel, expand on our growing position as a key partner in cancer research and develop the markets where our products and services are available. As always, we will continue to focus on the successful integration of new products and technologies and expansion into new markets, all while managing toward the bottom line.

Recent Corporate and Business Events

Fourth Quarter and Fiscal Year Financial Results

Total revenue for the fourth quarter 2011 was $8.6 million, an increase of 68 percent compared with $5.1 million for the same period of 2010. Revenues for the fourth quarter of 2011 included $4.6 million in sales related to the Clinical Labs business, $0.5 million in revenue related to the Pharmacogenomics Services Unit (Pharma which supports Clinical Trials) and $3.5 million in revenue related to the Diagnostic Tools unit.

For the year ended December 31, 2011, revenues were $32.0 million, an increase of 59 percent compared with $20.0 million for the same period of 2010. This included $16.0 million in net sales related to the Clinical Labs, $2.3 million in Pharma revenues and $13.7 million in revenues related to the Diagnostic Tools unit.

Gross profit was $5.3 million, or 62 percent of net sales during the fourth quarter of 2011, compared with gross profit of $2.4 million, or 47 percent of net sales during the comparable period of 2010. Gross profit was $18.4 million, or 58 percent of net sales for 2011, compared with gross profit of $9.8 million, or 49 percent of net sales for 2010. The improvement in gross margin for the fourth quarter and full year is attributable to improvement in our Lab Services and Pharmacogenomic margins. The improvement in our Lab Services is due to the revenue from the FAMILION acquisition and successful consolidation of operations and reduction of overhead costs. Our Pharmacogenomics margins have improved due to the revenue increase quarter-over-quarter and year-over-year as the costs in that segment are relatively fixed.

Operating expenses were $5.4 million during the fourth quarter of 2011, compared to $3.7 million during the same period of 2010. Operating expenses increased primarily due to the acquisition of the FAMILION business, including non-cash charges totaling $0.3 million related to the amortization of the acquired intangibles. Operating expenses for the year ended December 31, 2011 were $21.4 million, compared with $13.4 million for 2010. Operating expenses increased primarily due to the acquisition of the FAMILION business, including non-cash charges for amortization related to the acquired intangibles of $1.2 million. We also recorded non-cash charges for stock option expenses of $1.0 million and bad debt expense of $1.7 million.

Excerpt from:
Transgenomic Reports Fiscal Year 2011 Financial Results

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) Vermillion's shares soared 92 percent to $2.56 in mid-afternoon trade on the Nasdaq today after the firm announced that a panel of the American Medical Association approved the company's application for a Category 1 CPT code for its OVA1 ovarian cancer test.

The new code assigned to OVA1 becomes effective Jan. 1, 2013.

Category I codes pertain to procedures that are consistent with current medical practice and are commonly performed. Tests and/or procedures coded as Category 1 have met certain criteria, such as approval by the US Food and Drug Administration, and have proven and documented clinical efficacy.

Gail Page, president and CEO of the Austin, Texas-based molecular diagnostics firm, called the decision by AMA's Current Procedural Terminology Panel "a major achievement for OVA1 and an endorsement for the unmet clinical need addressed by this important triage test."

The panel's decision was supported by several peer-reviewed publications and a decision by the Centers for Medicare and Medicaid Services to cover the test for Medicare, she added.

"The new CPT code is a critical step in advancing the commercialization of OVA1, as we believe it will help streamline claims processing and accelerate coverage and adoption by private payers," Page said.

OVA1 was launched in March 2010 following 510(k) clearance from FDA in September 2009.

The AMA issued its OVA1 CPT coding decision as it moves to revamp the coding structure for tests known as in vitro diagnostic multivariate index assays, or IVDMIA, as GenomeWeb Daily News sister publication Pharmacogenomics Reporter reported in the fall. IVDMIAs are now dubbed multi-analyte assays with algorithmic analysis, or MAAAs, by the AMA.

See more here:
Vermillion's OVA1 Test Assigned Category 1 CPT Code; Stock Jumps