Mapping the human genome and mesothelioma diagnosis

In 2003, the U.S. Human Genome Project, an endeavor coordinated by Washington, D.C.’s U.S. Department of Energy and the National Institutes of Health, completed its mapping of human DNA, identifying a total of nearly 25,000 genes. Understanding the human genome has since allowed modern science to complete more accurate risk assessments, increase the precision of disease diagnosis, characterize genetic damage and repair processes and develop precision pharmaceuticals.

Having a roadmap of human DNA has also affected the diagnosis and treatment of mesothelioma, a rare cancer of the protective lining of the body’s major organs and cavities that is caused exclusively by prolonged asbestos exposure. The genetic biomarkers of this asbestos cancer have been indentified and can be used to determine the aggressiveness of the mesothelioma as well as diagnose epithelioid-type pleural mesothelioma, a tumor that specifically affects the lining of the lungs.

Mesothelioma is a particularly difficult cancer to detect because it takes between 20 and 50 years to develop and doesn’t become symptomatic until it reaches stage three or four. Even once symptoms become evident, diagnosis may still be challenging because the symptoms, such as shortness of breath and chest pain, can be indicative of any number of diseases. Being able to test for genetic markers specific to malignant mesothelioma can lead to quicker diagnoses, which in turn can lead to more timely treatment.

Genetic markers that provide more information about the type of mesothelioma may also contribute to more precise treatment. As this cancer is terminal, more precise treatment likely won’t be curative but it may extend a patient’s life expectancy anywhere from several months to a few years.