RUTHERFORD, N.J.—Cancer Genetics Inc. (CGI) announced in early March the results of a collaborative study conducted with The Cleveland Clinic to validate CGI’s kidney cancer microarray test that facilitates the diagnosis, subtyping and outcome prediction of kidney cancer patients. This study demonstrated that the diagnostic sensitivity of the test is 93 percent with 99-percent specificity. The clinical validation study was performed using samples from 188 kidney cancer patients treated at the Cleveland Clinic.
The test involves detection of copy number changes via probes, says CGI CEO Panna Sharma. “Then a decision-tree algorithm separates the cancers into subtypes,” he adds. The specific language of the patent details, “A panel for detecting the type of renal cortical neoplasm present in a sample, wherein said panel comprises a plurality of labeled probes each of which is individually capable of hybridizing selectively to a specific marker associated with a chromosomal abnormality diagnostic or indicative of the type of renal cortical neoplasm …”
Accurately diagnosing kidney cancer using pathology alone is challenging, and can delay time to first treatment if surgical resections are required. Sharma points out that there are approximately 60,000 new cases of renal cancer every year in the U.S. alone and that 20 percent to 30 percent are challenging to diagnose and frequently require partial surgical nephrectomy. Furthermore, there are an estimated 200,000 to 240,000 cases that require reassessment annually for kidney cancer. The CGI assay can be accomplished with as little as 2 µg of DNA from fine needle aspirate.
Cancer Genetics is currently commercializing the test nationally by making it available as laboratory-developed test. This study and final data were presented this week by Dr. Cristina Magi-Galluzzi of the Cleveland Clinic at a podium presentation at the 2014 United States & Canadian Academy of Pathology (USCAP) annual meeting in San Diego. These results reportedly provide additional evidence to support the clinical value of CGI’s, unique, disease-focused genomic tests.
This study and data follow the company’s recent notice of allowance for an additional patent in methods for detecting the subtype of renal cortical neoplasms announced last week. “This compelling study with Cleveland Clinic, along with initial work with Memorial Sloan Kettering, provides significant evidence that our technology has unparalleled value as a breakthrough diagnostic for kidney cancer,” Sharma stated in the news release announcing the development. “These new data come at an opportune time, since March is Kidney Cancer Awareness month, and our test has the ability to both subtype and help predict outcome from a small amount of DNA taken from either paraffin-embedded or fine needle aspirate. This is unique and will be a tremendous aid for both pathologists and oncologists helping patients in the battle against kidney cancer.”
The study, “Evaluation of a decision tree in the diagnosis of renal neoplasms based on genomic aberrations detected by array-CGH,” was completed in conjunction with a translational team at the Cleveland Clinic that included both the pathology and laboratory medicine departments and The Urological Institute. The study reviewed 15 targeted genomic regions for copy number data across 188 samples. The study included samples from all major subtypes of renal cancer. The samples were initially selected for the study based on pathologic diagnosis: 62 clear cell carcinomas, 56 papillary carcinomas, 34 chromophobe carcinomas and 36 oncocytomas. Overall tumor subtyping ranged from a diagnostic accuracy of 97 percent for clear cell, 93 percent for chromophobe, 91 percent for papillary and 86 percent in oncocytomas; 173 of the 188 samples were correctly assigned to a tumor subtype. Specificity of the molecular diagnosis using the array ranged from 100 percent for chromophobe to 99 percent for oncocytoma and 97 percent for both clear cell and papillary kidney cancer subtypes. CGI is confident that the results support implementation in a clinical setting to provide highly accurate subtyping and outcome prediction for renal cancers.
The panel is also being transferred to a next-generation sequencing platform for additional assessment of genomic aberrations.
Cancer Genetics Inc. is an emerging leader in DNA-based cancer diagnostics, servicing some of the most prestigious medical institutions in the world. The company’s tests target cancers that are difficult to diagnose and predict treatment outcomes. These cancers include hematological, urogenital and HPV-associated cancers. CGI also offers a range of non-proprietary oncology-focused tests and laboratory services that provide critical genomic information to healthcare professionals, as well as biopharma and biotech companies. Its state-of-the-art reference lab is focused entirely on maintaining clinical excellence and is both CLIA certified and CAP accredited and has licensure from several states. including New York. The company has established strong research collaborations with major cancer centers such as Memorial Sloan Kettering, The Cleveland Clinic, Mayo Clinic and the National Cancer Institute.
