September 15, 2014 (Vol. 34, No. 16)
Chromosomal Analyses Focus on Miscarriage Analysis and Prenatal and Pediatric Healthcare
CombiMatrix, a CLIA-certified laboratory, is bringing microarray analysis to the underserved problem of recurrent pregnancy loss as well as to prenatal testing. CombiMatrix performs microarray assays that deliver more complete results faster than traditional lab tests.
“Between 50 and 60% of all recurrent miscarriages are caused by a chromosomal abnormality,” Mark McDonough, president and CEO, says. To determine whether a chromosomal abnormality such as triploidy is present, tissue collected from a D&C procedure traditionally is sent to a lab for karyotyping, the standard-of-care genetic test.
“The problem is that it can take up to three weeks to get a result with karyotyping, and this technology returns results only 40 to 50% of the time,” McDonough notes. “Microarray-based cytogenic testing, like CombiSNP™, offers results in one week with 95% yield rates.”
For prenatal testing, CombiMatrix uses its single nucleotide polymorphism (SNP)-based CombiSNP array technology to provide a comprehensive look at the genetic makeup of the unborn fetus by testing amniotic fluid or chorionic villus sampling (CVS) tissue.
CombiMatrix also provides genotyping and other genetic services, including array comparative genomic hybridization (aCGH), bacterial artificial chromosome (BAC), and fluorescent in situ hybridization (FISH) assays.
CombiMatrix holds several state licenses. Most recently, the company gained conditional approval from New York for two of its tests: the CombiSNP Array for Pediatric Analysis and the CombiSNP Array for Pregnancy Loss. Since its founding in 2006, CombiMatrix has performed more than 25,000 microarray-based assays for miscarriage, prenatal exams, and oncology.
McDonough points out that CombiMatrix is “focused on unmet needs in terms of applying technology that’s available and giving reports that are readable and interpretable.” So, when the company needed an array provider, it chose a microarray that could be readily customized and that fit its own workflow and culture.
“With our customized Illumina SNP array, we can optimize testing by using fresh or formalin-fixed paraffin embedded (FFPE) tissue.” FFPE is standard worldwide, so clients can ship samples safely for analysis. Fixed tissue also enables comparisons over time. For example, McDonough elaborates, a woman (with her physician) could request the genetic analysis of a loss several years ago to identify any genetic patterns in her miscarriages.”
Once CombiMatrix renders a result, obstetricians can access the company’s genetic counselors as well as its M.D. and Ph.D. teams for information. “We invest in top-of-the-line technology and have the human capital and the history to interpret the data,” McDonough insists. “This high-tech, high-touch service is where CombiMatrix’s value lies.”
Molecular assay options, particularly for prenatal exams and recurrent pregnancy loss, are helping CombiMatrix expand its client base throughout the United States and Canada. “There’s a huge opportunity to grow the company,” McDonough says.
CombiMatrix takes a three-pronged approach to growth based upon increasing its corporate partners, its pathology partners, and its own direct sales force. “Pathology labs often are regional powerhouses, whose clients include the core hospitals in an area,” McDonough explains. “Many also have their own sales teams.” Partnering with such labs expands CombiMatrix’s reach.
Partners include regional pathology labs like American Pathology Partners. Among corporate partners, CombiMatrix works with Sequenom. “We complement each other in terms of services. Its team appreciates that the microarray can give a comprehensive view of the genetic picture,” he continues.
“We’re also looking for additional partners,” McDonough says. The objective is to develop relationships with companies that don’t compete with each other. “We believe in the value of long-term relationships,” he stresses. To that end, the company is looking to grow through in vitro fertilization testing and reproductive endocrinology relationships.
For CLIA laboratories, the challenge with any new technology is reimbursement. That’s also true for these newer tests. Although physicians quickly understand the benefits of providing quick, definitive results, hospital administrators and payers often require more convincing. That’s coming in the form of a growing number of journal articles supporting the benefits of microarray assays for prenatal and miscarriage testing.
“The reimbursement environment is dynamic and fluid,” McDonough emphasizes. Payers rightly demand evidence showing why these tests should be used.
Aside from the increasing body of scientific evidence and an endorsement of microarrays as first-tier tests from the American College of Obstetricians and Gynecologists, there’s also a financial case. McDonough says a microarray-based test to determine the genetic factors in miscarriage can preclude many tests that otherwise must be conducted: “This can save payers several thousand dollars per patient. Our key is to be a catalyst and hope payers listen.”
Location: 300 Goddard, Suite 100, Irvine, CA 92618
Phone: (949) 753-0624
Principal: Mark McDonough, President and CEO
Number of Employees: 56
Focus: CombiMatrix, a clinical diagnostic laboratory, specializes in cytogenomic testing for prenatal diagnosis, miscarriage analysis, and pediatric developmental disorders. It offers microarray analysis, standard and customized FISH, and high-resolution karyotyping.