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September 18, 2014
In decades past, researchers believed that cancer was largely predetermined by a patient's genetic makeup. However, recent advances have shown that DNA methylation plays a critical role in the genesis of cancerous cells. To identify this epigenetic cause, Noel Doheny, chief executive officer of genetic engineering firm Epigenomics, explained that his research team wanted to identify a blood-based biomarker that could serve as an early warning sign of colorectal cancer. Working alongside another firm, Epiontis, Doheney and his team hope that their work can improve early detection of both cancer and immune disorders, according to Genetic Engineering & Biotechnology News.
First, the researchers identified the Septin9 gene, which is associated with a hypermethylated promoter in colorectal cancer patients. The researchers then developed a blood test to identify the state of the Septin9 gene.
This test involved extracting DNA from plasma and administering bisulfite, which converted the DNA's unmethylated cytosine to uracil. Then, this converted DNA was assayed through a polymerase chain reaction to identify the methylation status of Septin9.
"When we used the test and compared it to colonoscopy in a large prospective trial of 8,000 average-risk individuals, we found 67 percent sensitivity and 88 percent specificity," Doheny told GEN.
While the role of methylation in cancer development was the root of the study, the researcher's conclusions could reach beyond oncological diseases.
Immune cell biomarker identification progresses
Epigenomics' findings may help researchers adjust medical trials to more specific goals, but the benefits of these developments are not limited to cancer. Ulrich Hoffmueller, Ph.D., chief business officer and founder of Epiontis, told GEN that his organization has made great strides in discerning biomarkers for immune cells as well.
By searching areas of the genome where they suspected high levels of demethylation, the Epiontis researchers developed PCR-based assays for T-cells, B-cells, neutrophils and CD 4 cells.
"This is a great technology for developing countries that do not have access to immediate clinical testing," Hoffmueller stated about PCR-based technology. "One could envision doing a simple pin prick and dotting the blood on a filter that can be sent to a lab for follow-up analysis."
Advancements like these are helping researchers like Doheny's team take on major illnesses, including cancer and immune disorders. Key to large scale research like theirs is access to genomic information from specimens across broad patient populations with relevant medical conditions. iSpecimen delivers that access through our partnerships with health care facilities that provide millions of clinical specimens and associated patient medical record information yearly.