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New Releases: Jan 13, 2010


Epigenomics' Septin 9 colorectal cancer test launched last week in European markets through a marketing partnership with Abbott and in the US this week as a laboratory-developed test through a similar deal with Quest Diagnostics.

Abbott announced last week it had received CE marking in the European Union for its RealTime mS9 Colorectal Cancer test. The RT PCR-based assay detects a methylated form of Septin 9, a gene linked to colorectal cancer, in blood samples. “It is the first automated assay for detecting the Septin 9 gene in plasma and the first cancer assay available with Abbott's m2000 PCR-based molecular diagnostic system,” Abbott said in a statement.

In offering the homebrew version of the test, Quest said this week that it is “the first commercial laboratory in the US to offer a laboratory-developed test based on the Septin 9 biomarker.”

Epigenomics licensed the Septin 9 biomarker to Quest in 2008 and to Abbott in 2007.

The Septin 9 test is being marketed as an additional, non-invasive tool for doctors to help determine whether a patient requires colonoscopy, which could aid in the early detection of colorectal cancer.

Abbott touted the fact that the Septin 9 blood-based test is less invasive than colonoscopy and more accurate than fecal occult blood tests, which are non-invasive but identify around 50 percent of malignancies. “Physician acceptance and use of a more convenient blood test could significantly increase the number of people being screened,” Abbott said in a statement.

If colorectal cancer is detected early, the survival rate is more than 90 percent. However, according to statistics, greater than 50 percent of colorectal cancer cases are diagnosed in late stages of the disease, when the prognosis is poor.

The link between methylated DNA from the Septin 9 gene and colorectal cancer has been shown in several studies involving 3,000 samples in total. According to Abbott, its test detected 70 percent of cancers in all disease stages at 90 percent specificity.

Abbott's m2000 RT PCR platform, upon which the mS9 colorectal cancer test operates, is also used for Abbott's HIV, hepatitis B and C, chlamydia, gonorrhea, and human papillomavirus tests.

Quest, meantime, markets a US Food and Drug Administration-cleared fecal occult blood test, called InSure, to screen for lower gastrointestinal bleeding. The company also offers a pharmacogenetic test that detects mutations in codons 12, 13, and 61 of both the KRAS and NRAS genes, and mutations in exons 11, 12, and 15 of the BRAF gene, to predict if a patient with metastatic colorectal cancer will respond to certain drugs and gauge a patient's predisposition to hereditary colorectal cancer. Additionally, Quest provides biopsy testing of tissues identified through colonoscopy.

The Scan

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.

Team Presents Cattle Genotype-Tissue Expression Atlas

Using RNA sequences representing thousands of cattle samples, researchers looked at relationships between cattle genotype and tissue expression in Nature Genetics.

Researchers Map Recombination in Khoe-San Population

With whole-genome sequences for dozens of individuals from the Nama population, researchers saw in Genome Biology fine-scale recombination patterns that clustered outside of other populations.

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.