Respiragene™ SNPs

The Respiragene™ test analyzes each patient's DNA for a specific combination of biomarkers, called single nucleotide polymorphisms (SNPs) detectable on the human genome, which extensive studies have shown determine an individual's likelihood of developing lung cancer in comparison with other smokers.  Some of these SNPs are linked with susceptibility to lung cancer, while others are correlated to disease resistance.

The ability to clearly segment a group of otherwise similar people into different risk groups is one of the keys to creating a clinically useful test.  While several individual SNPs have been linked scientifically to one of the many complex factors which may underpin the development of lung cancer, by themselves these SNPs do not provide a strong signal or differentiator among various people.

Respiragene™ detects a panel of 20 specific SNPs that researchers have identified as providing the greatest impact in segmenting all smokers and creating an individualized lung cancer risk score.  Aside from the 20 SNPs, Respiragene™ also incorporates three non-genetic risk factors: patient age, whether there is a close family history of lung cancer, and whether the patient has previously been diagnosed with Chronic Obstructive Pulmonary Disease (COPD) or emphysema.

A proprietary algorithmic approach combines results from the nominated Respiragene™ SNPs and the non-genetic factors to generate a numerical score for each individual. This score can be represented on a linear scale, and shows that the higher a person's Respiragene™ score, the higher their relative risk of developing lung cancer compared to other smokers.