In partnership with the London Health Centre in Canada, the Greenwood Genetic Center launched a first of its kind clinical epigenetic test that will analyze gene expression.
The goal with the test, called EpiSign, is to help Greenwood experts pinpoint genetic disorders and intellectual disabilities that may be difficult to identify. Based in the city of Greenwood, the center says it is one of the first laboratories in the United States to launch this sort of test.
"EpiSign is another tool now at the clinician’s disposal to help end the diagnostic odyssey for many families," said Dr. Mike Friez, director of the Greenwood Diagnostic Laboratories in a press release.
In simple terms, epigenetics is the study of gene expression. Genes can be turned off or on through a process called Methylation. Those gene expressions, or that methlylation process, are what make people unique as they vary from person to person.
Traditionally genetic testing looks at changes in DNA codes to locate mutations or changes that can lead to disease. An epigenetic test goes a little deeper.
"So even though the genetic code may be normal, if a gene is over- or underexpressed, it can lead to a genetic disorder," Friez said in a press release.
EpiSign looks at a patient's blood sample to highlight specific patterns of methylation. Some of the disorders the test can pinpoint include Down syndrome, CHARGE syndrome and Williams syndrome.
The test also will assist researchers with unclear variants in a gene. It will help in separating if a variant is a disease-causing mutation or a normal benign variant.
“When we perform gene sequencing, it is common for a patient to have what we call a variant of uncertain significance or VUS,” said Kellie Walden, laboratory genetic counselor for Greenwood Diagnostic Labs in a press release.
Greenwood experts emphasize that those variants of uncertain significance are found in high frequency with people with an unexplained intellectual disability.