Respiragene combines SNP data with nongenetic risk factors to produce personalized scores.

PHD Diagnostics and its CLIA-certified lab, Molecular Diagnostics Laboratories, have developed a genetic test called Respiragene™ that identifies smokers and ex-smokers at the greatest risk of developing lung cancer.

SNP analysis data is combined with nongenetic risk factors for the disease to produce a personalized risk score that places individuals in three categories.  A moderate risk score means the person has a risk of developing lung cancer comparable to an average smoker. Average smokers are 20 to 30 times more likely to develop lung cancer than nonsmokers, and about one in 10 will develop the disease. 

Those with high risk scores are about four times more likely than those at moderate risk to get lung cancer. Finally, those at very high risk are about 10 times more likely to get the disease.  Studies show that approximately 30% of individuals fall into the high risk and 20% into the very high risk groups.

Research suggests smokers often suffer from optimistic bias, the belief that bad outcomes happen to other people, not them, the companies explain.  “Respiragene provides an easy to understand score and personalized information that doctors and patients can use to help individuals take the steps required to quit smoking and improve their overall health,” says Bob Walker, president of PHD Diagnostics.

Identifying higher-risk patients may also help doctors better identify those who should be more closely monitored for early symptoms or signs of lung cancer as part of an overall effort to diagnose lung cancer early and improve survival rates for those who do develop the disease. 

The Respiragene technology is based on a long-term genetic research program and ongoing clinical studies led by Robert Young, an associate professor in the Schools of Medicine and Biological Sciences at the University of Auckland and CSO for Synergenz BioScience, which was spun off from the university. PHD Diagnostics licensed the technology and developed the Respiragene test specifically for the U.S. market.

“About 50% of those who get lung cancer have already quit smoking, indicating that many ex-smokers remain at risk of lung cancer, despite having broken their habit in the past,” according to Dr. Young. “This is particularly the case for those who have smoked for over 30 years and quit within the last 10 years or who have put off quitting until after 60 years of age. Identifying these people at high residual risk despite quitting may also increase awareness and maintain resolve to remain abstinent.”

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