Clinical diagnostic services
Respiragene™ |
A Gene-based Test for Susceptibility to Lung Cancer
Proactive cancer management through early risk identification
Respiragene™ is a test to identify smokers and ex-smokers at greatest risk of getting lung cancer. The test is the first in the world to provide a personalised estimate of lung cancer risk, by combining results of DNA analysis with other known risk factors for the disease.
All smokers and ex-smokers are at risk of lung cancer, but for some the risk is much higher. The combined effects of smoking and genetic predisposition sharply increase the risk of getting lung cancer, the most lethal of the common cancers. In the UK, one person dies of lung cancer almost every 15 minutes. Lung cancer is the most common cause of death from cancer, responsible for 24% of male deaths from cancer and 20% of female cancer deaths, according to Cancer Research UK. In Ireland, too, lung cancer is the most common cause of cancer deaths.
The test uses DNA obtained by a simple mouth swab and three non-genetic risk factors for lung cancer -- age, chronic obstructive pulmonary disease (COPD) or ‘smoker’s lung’, and family history of lung cancer. It generates a score placing smokers and ex-smokers into one of three categories: Moderate Risk, High Risk and Very High Risk.
Those at “Moderate”, or average, risk have an estimated 10% lifetime risk for lung cancer, meaning about one in 10 of them will develop lung cancer. A High Risk means a person is four times more likely to get lung cancer than an average smoker. A Very High Risk means 10 times the risk of an average smoker.
When undertaking any genetic test it is important to discuss the results with a doctor or a genetic counsellor. Lab21 can provide access to a genetic counsellor if required.
Why should I get tested?
Clinical benefits of Respiragene™
Respiragene™ - How it works
Published research
Why should I get tested?
Despite decades of public health warnings about the risks, many smokers carry on smoking. Research suggests smokers often suffer from “optimistic bias” – the belief that bad outcomes happen to other people, not them.
The Respiragene™ test results provides a personalised risk score, powerful information that can help provide the drive needed to succeed in quitting smoking. Personalising health risks helps neutralise optimistic bias, and encourages individual motivation.
Early evidence also suggests that identifying higher risk patients will also allow doctors to better monitor for early detection of lung cancer, a key factor in improving survival times for those who develop the disease. For this reason, the test is also useful for ex-smokers.
Respiragene™ was developed by Lab21’s partner Synergenz Bioscience Ltd. For more information about the test, see www.synergenz.com.
Clinical benefits of Respiragene™
The key clinical benefits of this test are:
• Helping and promoting smoking cessation
• Prioritising patients for early detection of lung cancer
Until now, there have been no “risk tools” for individually assessing smokers and encouraging them to reduce their risk.
Clinical studies have shown that many smokers are interested in taking tests that measure their personal risk from smoking, and that providing personalized risk data can motivate smokers to quit smoking. Personalised data about actual risk can enhance a smoker’s motivation by undermining “optimistic bias” (an individual’s belief that negative outcomes happen to other people, not them), helping create the stimulus for behaviour change.
Smoking cessation has been shown to improve both quality and duration of life, and deliver considerable savings on health costs. Smoking cessation counselling is considered a minimum standard of care in most health systems and effective in improving quit rates.
Earlier detection is closely linked with improved survival rates. 80% of lung cancer patients die within 24 months of diagnosis, and only 10% survive 10 years or longer. However, survival rates increase dramatically to 80 to 90% over 10 years for those whose cancers are detected when they are 1 to 2 cms, or smaller. Respiragene™ can help prioritise those patients at greatest risk for closer monitoring and faster work-up if symptoms emerge.
Although a doctor is not necessarily needed to interpret the test result, the consultative process around patient testing is likely to result in a better outcome (i.e. quitting smoking) where the individual patient’s primary care doctor is involved. Our clinical experience indicates that having the test available, and thereafter, the individual’s results, allows the doctor to engage the patient in considering smoking cessation interventions. A doctor’s involvement is essential for closer monitoring of the smoker’s health.
Respiragene™ - How it works
The Respiragene™ test result is a composite score that factors in the combined presence (and absence) of established risk factors for lung cancer, both genetic and non-genetic. It uses a straightforward and assumption - free approach much like existing risk scores (e.g. the Framingham score for coronary risk). The Respiragene™ risk score defines a person’s risk relative to the average smoker and places them on a linear scale where the greater the score, the greater the risk. It combines results from three non-genetic factors – age, family history of lung cancer and past history of COPD – with analysis of Single Nucleotide Polymorphisms (“SNPs”) that determine an individual’s risk of lung cancer.
The scientific underpinning of the Respiragene™ test has been established by an 8-year program led by Dr Robert Young and colleagues at Auckland University in New Zealand. With a background in genetic research (PhD Oxford) and an ongoing clinical and academic role with Auckland University’s School of Medicine, Dr Young brought a multi-disciplinary approach to creating Respiragene™. Initial funding for his research included support from Auckland University and the Health Research Council of New Zealand, the major New Zealand Government funding body of its kind. Since 2004, Dr Young’s research has been funded by Synergenz Bioscience but conducted at Auckland University and leading New Zealand hospitals and, more recently, in collaboration with leading research institutes in Europe and North America.
Published research
Respiragene™ is either a trademark or registered trademark of Synergenz Bioscience, Ltd in the United States and other jurisdictions
What is the test?
Respiragene™ is a gene-based test that requires only a cheek swab to determine whether a patient has genetic sequences indicating a predisposition to lung cancer. The test combines results of the genetic analysis with other known risk factors for the disease to generate a Lung Cancer Risk Score, Which states whether the patient is likely to be at Moderate, High or Very High risk of lung cancer compared to an average smoker.
From receipt of the patient sample at Lab21, a report will be sent within 21 working days.
When undertaking any genetic testing it is important to discuss the results with your doctor or a genetic counsellor. Lab21 can provide access to a genetic counsellor if required.
Respiragene™ was developed by Lab21’s partner Synergenz Bioscience Ltd. For more information about the test, see www.synergenz.com.
