Smoking is the single biggest preventable cause of death in industrialized countries. However, the number of people who quit smoking each year is relatively small: 46 million people in the United States smoke; 70% of smokers report wanting to quit and 46% of smokers try to quit each year. Only 3% of smokers who try to quit succeed.  Scientific research suggests that many smokers suffer from "optimistic bias" - the belief that bad outcomes happen to other people. A powerful tool for physicians to help patients stop smoking is to neutralize this optimistic bias through personalizing the health risks associated with smoking. Respiragene™ personalizes risk by assessing your individual susceptibility to lung cancer. Risk personalization encourages individual motivation.

Approximately 1 in 10 smokers will die of lung cancer. One in 4 smokers die before the age of 69. The best thing that smokers can do to avoid lung cancer is to stop smoking. The best thing a smoker can do for their health in general is to stop smoking because it also lowers their risk of cancer, heart attack, stroke, emphysema and numerous other fatal diseases linked to smoking. The Respiragene™ test results will provide you with a personalized risk score, powerful information that may encourage you to try, and help you focus on success in quitting smoking.

Scientific research suggests that many smokers suffer from "optimistic bias" - the belief that bad outcomes happen to other people, not them. Respiragene™ test results can help counter optimistic bias by showing you your genetic-based, personal risk profile for lung cancer as compared to other smokers. Risk personalization has been shown to encourage individual motivation to quit.

Survival rates for individuals with lung cancer can improve if the cancer is detected early.  The smaller a lung cancer is when it is detected, the better the chances of survival.  Smokers aged 40 or more, especially those at the higher end of the personal risk score readout, may want to seek their doctor's recommendations on next steps to help diagnose a lung cancer should it occur.  If your risk is high or very high, you and your doctor may decide to exercise extra vigilance through regular check-ups, particularly at the first sign of symptoms such as persistent cough, persistent chest pain, or worsening breathlessness.

Your Respiragne™ test result may remind you why you are resolved to stay smoke-free. Quitting smoking helps improve your health and lowers your risk of having a heart attack or stroke, or of developing Chronic Obstructive Pulmonary Disease (smoker's lung).

But lung cancer remains a residual threat for ex-smokers, and the risk decreases only slowly over time. Once you have given up smoking, the test results may help you decide, with your doctor, on how closely you should be monitored for various lung disease symptoms.

Survival rates for patients with lung cancer significantly improve if the cancer is detected early. Unfortunately, the diagnosis of lung cancer is often delayed by several months after the onset of symptoms such as a persistent cough, persistent chest pain or worsening breathlessness, because these symptoms can be blamed on other smoking-related diseases.

It is never too late to quit. Plus, the Respiragene™ test score may help you and your doctor establish the right steps for monitoring your risk for lung cancer, related to your personal susceptibility to the disease. And remember, even if you have been smoking for many years, when you quit you gain immediate health benefits, as described in the following timeline:

After 20 minutes
Your blood pressure and pulse decrease
The temperature of your hands and feet increases

After 8 hours
The carbon monoxide level in your blood returns to norm
Oxygen levels in your blood increase

After 24 hours
Your chance of heart attack decreases

After 48 hours
Nerve endings adjust to the absence of nicotine
Your ability to taste and smell begin to return

After 72 hours
Bronchial tubes relax

After 2 weeks to 3 months
Your circulation improves
Your exercise tolerance improves

After 1-9 months
Coughing, sinus congestion, fatigue and shortness of breath decrease
Cilia re-grow, increasing the ability of the lungs to handle mucus, clean the lungs and reduce infection
Your overall energy level increases

After 1 year
Your risk of heart disease decreases to half that of a current smoker

After 5 years
Your risk of stroke is reduced to that of people who have never smoked

After 10 years
Risk of dying from lung cancer drops to almost the same rate as a lifelong NON-smoker

The incidence of other cancers - of the mouth, larynx, esophagus, bladder, kidney and pancreas--decreases.

(Source: Cleveland Clinic)

Unfortunately, yes.  About 10% of people who get lung cancer have never smoked, though many of them have been exposed to "passive smoking" - living or working alongside smokers - or to other airborne pollutants such as asbestos.

No, this test is not recommended for non-smokers.  The patient data underpinning Respiragene™ did not include data gathered from non-smokers, so there is limited scientific background, at this time, that provides predictive risk data for non-smokers.  They are at very low risk for lung cancer, unless they have been chronically exposed to passive smoking.

This test has been derived from the results of clinical studies involving only smokers or ex-smokers.  There is at present only limited data for passive smokers.  The Respiragene™ test incorporates personal information known to be associated with risk of lung cancer and relevant for non-smokers, specifically age, history of COPD (smoker's lung or chronic obstructive pulmonary disease) and family history of lung cancer.  Some of the genetic variants are also believed to be relevant to risk of lung cancer in non-smokers.  However, this is not recommended for people who have not smoked.  Research continues into the susceptibility of people with chronic exposure to other people's smoke.

Family history does provide a low level of predictive risk information and is factored into this test.  But only between 10% and 20% of people who develop lung cancer have a mother, father, sibling or child with lung cancer.

The Respiragene™ test does not diagnose illness - it identifies risk.  The aim is to identify increased risk, and use the information to take steps to help prevent future illness.  Quitting smoking benefits people of all ages, and not just by reducing risk of lung cancer.  If a smoker quits before age 40 or 50, the risk of lung cancer reduces towards that of someone who has never smoked.  A smoker's risk of heart disease is cut drastically within 1-2 years after quitting.

There is a major overlap between the genes implicated in COPD and lung cancer, but there are still 30-50% of lung cancer sufferers who do not have COPD.  The Respiragene™ Test identifies these people at high risk of lung cancer, whether or not they are at elevated risk of COPD.  Also, COPD is often not diagnosed at all, or not diagnosed until later in life. So waiting until COPD is evident, is often too late for individuals to take the action needed to reduce their risk of both diseases. The Respiragene™ test can be taken by smokers at any age.  It will alert those at elevated risk and may encourage individuals to stop smoking and to consult with their doctors on screening strategies.

Respiragene™ is an innovative genetic test that assesses your inherent risk of developing lung cancer, whether you are a current or former smoker. The Respiragene™ test will identify whether you are at moderate risk, high risk or very high risk of developing lung cancer at some point in your life, compared to other smokers. Armed with this information, you can take steps such as quitting smoking, or making sure you don't relapse if you have already quit. You and your doctor may also use this information to be more vigilant and watch closely for early warning signs of lung cancer. Survival rates for people with lung cancer improve significantly if it is detected early.

If you are a current or former smoker, you are at significantly greater risk than non-smokers for developing a range of fatal diseases, including lung cancer.  The likelihood of developing lung cancer increases steeply after long-term smokers turn 50. Smokers are 20 to 30 times more likely to contract lung cancer than non-smokers.

Among smokers, many individuals are at higher than average risk of developing lung cancer due to their genetic make-up. Respiragene™ distinguishes between smokers and ex-smokers at "moderate risk," "high risk" and "very high risk." The lifetime risk of lung cancer across all smokers is estimated to be 10%, meaning about one in 10 smokers will develop lung cancer. Based on studies of the Respiragene™ test, those classified by the test as having "moderate" risk are at the same approximate risk as the average smoker. A high risk result means a person is up to four times more likely to get lung cancer than those at moderate risk. A very high risk result means up to 10 times greater than those at moderate risk.

The Respiragene™ test is based on a combination of technologies that assess a complex but specific set of genetic markers--single nucleotide polymorphisms (SNPs)--which determine an individual's likelihood of developing lung cancer. Some SNPs are linked with susceptibility to lung cancer, while others are correlated with disease resistance. The test measures these variables and combines the result with three non-genetic factors - age, family history of lung cancer and past history of COPD (Chronic Obstructive Pulmonary Disease, or smoker's lung). Respiragene™ generates a score which places individuals into moderate, high or very high risk categories for developing lung cancer compared to other smokers, based on clinical studies of former and current smokers.The Respiragene™ test is based on a combination of technologies that assess a complex but specific set of genetic markers--single nucleotide polymorphisms (SNPs)--which determine an individual's likelihood of developing lung cancer. Some SNPs are linked with susceptibility to lung cancer, while others are correlated with disease resistance. The test measures these variables and combines the result with three non-genetic factors - age, family history of lung cancer and past history of COPD (Chronic Obstructive Pulmonary Disease, or smoker's lung). Respiragene™ generates a score which places individuals into moderate, high or very high risk categories for developing lung cancer compared to other smokers, based on clinical studies of former and current smokers.

Single nucleotide polymorphisms or SNPs (pronounced 'snip') can be described as particular variations in a human's DNA sequence or genome.  Specific SNPs linked to the development of disease can provide an indication of an individual's susceptibility to that disease.

The SNPs themselves do not necessarily cause these diseases, but act as 'biological markers' that can be measured and used in combination with environmental factors to determine a person's susceptibility.

A person's genes account for around 62% of the overall risk faced by an individual.  The non-genetic factors of age, family history of lung cancer and presence of COPD add the remaining 38%.

Respiragene™ has been developed for the United States market as a "Lab Developed Test" by Medical Diagnostics Laboratories, LLC (MDL), which is a fully-qualified CLIA-certified laboratory with previous success in developing and performing innovative genetic testing services. The test is derived from genetic discoveries made in the course of an 8-year research program initiated at the University of Auckland in New Zealand and led by Dr. Robert P. Young, a practicing medical doctor and a PhD (Oxford, UK) in genetics. 

The test is based on a number of published studies of lung cancer risk, showing established close relationships between the Respiragene™ test variables and the risk of developing lung cancer. The core scientific discoveries have been validated by findings from various research groups around the world showing that the genetic variables used in the Respiragene™ test have been consistently identified in patients with lung cancer.

The test itself is performed at the CLIA-certified labs operated by MDL in Covington, Kentucky.  The CLIA Program (which stands for Clinical Laboratory Improvement Amendments) is the program regulated by the U.S. Department of Health and Human Services Centers for Medicare and Medicaid Services which governs all clinical laboratory testing performed on humans in the U.S.  The objective of the CLIA program is to assure high quality laboratory testing services.

The price of the test is $700.  Payment for the test must be received prior to the initiation of any testing services.

As a new technology, the test will likely be adopted first by those plans which are seeing value in advances in preventive and personalized medicine. We are currently working with insurers to make sure Respiragene™ is widely covered by them. .In order to assist you with the submission of bills to your insurance provider, you can opt to permit us to submit the bill for your testing services directly to your provider.  However, we cannot guarantee that your insurance provider will reimburse you for all or any of your payment for the test.

You can order the Respiragene™ test online by using our Order Now service.You can order the Respiragene™ test online by using our Order Now service.

Once you pay for the test, a test kit - with two mouth swabs for taking your DNA sample, a Respiragene™ Test Request Form to be signed by you and your doctor, along with additional informational materials about the test for your doctor and a pre-addressed return envelope - should arrive in the mail within one to two weeks.

A cheek swab, which is simple to perform, either by yourself or with the help of a nurse or doctor, provides enough genetic material for assessment of your risk.  You will also need to answer a few questions about your medical history on the Respiragene™ Test Request Form. Your personalized test results for Respiragene™ will be available about two weeks after the processing lab receives them. 

Your lung cancer risk score will be a number between 1 and 12.

If you score is 1 to 3 you are at "Moderate Risk" of getting lung cancer.  That means you are 20 to 30 times more likely to develop lung cancer than a non-smoker; about one in 10 of smokers at moderate risk will develop lung cancer.

If your score is 4 or 5 you are at "High Risk," or about 4 times more likely than an average smoker to get lung cancer.

If your score is 6 to 12 you are at a "Very High Risk," about 10 times more likely to get lung cancer than an average smoker.

Remember, no matter what your score, you can reduce the risk by quitting smoking.  Smokers at moderate risk are still 20 to 30 times more likely to contract lung cancer than non-smokers. 

If you are still smoking, your doctor will likely tell you the single most important action any smoker can take is to quit.  The sooner you stop smoking, the sooner you reduce your risk of developing diseases caused by smoking.  Your doctor will have specific recommendations for you on the best way to get help.

If you have already stopped smoking, don't start again.

Talk to your doctor about the next steps they recommend.  Ex-smokers need to be vigilant and act quickly if they experience symptoms such as persistent cough, persistent chest pain, coughing up blood or breathlessness.  Your doctor may make recommendations about how to more closely monitor health in the future, and whether a CT scan is appropriate for you to pick up signs of potential early-stage tumors.

Although CT scans are more sensitive than x-rays and can find small tumors or nodules, they also pick up non-cancerous nodules.  The nodules cannot be confirmed as cancerous or benign until a second, follow-up scan is conducted, or until the nodule sample is tested after a surgical technique known as a bronchoscopy.

Lung cancer is an aggressive cancer.  Only about 20% of patients live longer than 2 years after diagnosis.  By the time patients are diagnosed with lung cancer, it is often too late for a cure.  However, survival rates improve significantly if the disease is detected at an early stage, before, or when symptoms first develop.  Research has shown that if lung cancer tumors are diagnosed and treated when they are still around 10 mm in size, about 80% of people will live 10 years or longer. 

Though you are not in the highest risk category for lung cancer, your risk of developing it remains 20 to 30 times higher than a non-smoker.  You may still develop lung cancer if your score is below the highest category.

And lung cancer is only one of the many diseases that are directly linked to smoking.  Although this is a test specifically related to lung cancer, there are many other harmful effects of smoking.  By continuing to smoke you are still harming your body in the following ways:

1. Eyes
The risk of developing cataracts is 2-3 times higher among smokers compared with non-smokers.  Cataracts are one of the most common causes of visual impairment.  Smoking is also the major preventable cause of macular degeneration, a condition which causes blurred central vision.

2. Ears
Some studies have found that people who smoke are more susceptible to hearing loss due to ear infections and loud noise.  Smokers may also be more likely to lose their hearing earlier. This is due to the damaging effects of smoking on blood vessels, which can reduce blood flow to the inner ear. Also, smoking around children can increase their risk of ear infections.

3. Nose
Smoking can reduce your sense of smell and cause cancer of your nasal cavity and nasal sinus.

4. Mouth and teeth
There are a number of effects of smoking on oral and dental health, including yellow discoloration of teeth, tooth decay, bad breath and gum disease.  Both smoking and chewing tobacco can cause mouth cancer (including cancer of the lip and tongue). Smoking may also affect your sense of taste.

5. Brain
Smoking is a major cause of stroke, causing about 40 per cent of all strokes in people under the age of 65 years.

6. Throat
Smoking can cause cancer of the throat (pharynx), voice box (larynx), and food pipe (esophagus). At least 50 per cent of these cancers are caused by smoking.

7. Skin
Smokers' skin often has a dry, irritated, discolored, leathery, or worn appearance. Wrinkles, especially around the eyes and mouth, develop sooner and are more pronounced in people who smoke compared with non-smokers.  Smoking may also increase your risk of skin cancer.  Many smokers develop yellow discoloration of their hands and fingernails due to the tar in cigarettes.

8. Lungs
As you would expect, smoking damages the lungs.  Smoking can increase your risk of developing respiratory infections such as bronchitis and pneumonia, as well as putting you at risk of more long-term serious diseases, such as chronic obstructive pulmonary disease (COPD).  COPD, a term used to describe both chronic bronchitis and emphysema, is a consequence of long-term exposure to cigarette smoke and is a progressive disease.  Nearly all cases of COPD are caused by smoking. People with COPD have a persistent cough and difficulty breathing due to irreversible lung damage.

9. Heart
Smoking increases your risk of coronary heart disease.  In fact, the risk of dying of coronary heart disease is 70 per cent higher for smokers than for non-smokers, and the risk of having a heart attack is 2-6 times higher in smokers compared with non-smokers.  Smoking-related coronary heart disease can contribute to heart failure, and smoking is also associated with sudden cardiac death.  But it's good to know that if you quit smoking, your risk of heart disease drops dramatically after just 12 months.

10. Stomach
Smoking increases your risk of developing a stomach ulcer and stomach cancer.  You are also more likely to have problems with heartburn if you are a smoker.

11. Arteries
Smoking raises blood pressure, and is a major risk factor for the disease known as atherosclerosis, which causes narrowing and stiffening of the blood vessels.  Complications of atherosclerosis include: heart attack; stroke; erectile dysfunction (impotence); and peripheral vascular disease (decreased blood flow to the legs that causes leg pain during exercise and, in advanced cases, may need to be treated with amputation).

12. Gastrointestinal system
Studies have shown that bowel, rectal and liver cancers are all more common in people who smoke.  Cancer of the pancreas can also be caused by smoking. Smoking can also affect your liver, reducing its ability to process alcohol, medications and toxins.

13. Kidney and bladder
Smoking is associated with an increased risk of developing cancer of the kidney and bladder.

14. Reproductive system
Smoking increases the risk of cervical cancer in women, and may be associated with an increased risk of erectile dysfunction (getting or maintaining an erection) in men.  Women who smoke may have more trouble getting pregnant than non-smokers. This is especially true if their partner is also a smoker, because smoking can reduce a man's sperm count.  Smoking during pregnancy can increase your risk of miscarriage, pregnancy complications, and premature delivery.  Smoking during pregnancy also increases your baby's risk of sudden infant death syndrome (SIDS).

15. Bones
Smoking contributes to the reduction in bone density among women who have been through menopause, and increases the risk of hip fracture in both older men and women.  Acute myeloid leukemia, which is a type of cancer of the bone marrow, has recently been found to be strongly associated with smoking.

(source: www.mydr.com.au)

It is not likely to be the same.  Though the genome of direct relatives is very similar, it is not identical.  The differences may mean that you have a differing susceptibility to lung cancer.

If you are concerned about lung cancer and you are a smoker or ex-smoker aged 40 or above, you should still take the test.

In the U.S., people who take genetic tests are protected under the Genetic Information Nondiscrimination Act of 2008 (P.L. 110-233, 122 Stat. 881)1, also referred to as GINA, which is a Federal law that prohibits discrimination in health coverage and employment based on genetic information.  GINA generally will prohibit discrimination in health coverage and employment on the basis of genetic information.  GINA, together with already existing nondiscrimination provisions of the Health Insurance Portability and Accountability Act, generally prohibits health insurers or health plan administrators from requesting or requiring genetic information of an individual or the individual's family members, or using it for decisions regarding coverage, rates, or preexisting conditions.  The law also prohibits most employers from using genetic information for hiring, firing, or promotion decisions, and for any decisions regarding terms of employment.   

The Respiragene™ Test has a ROC (Receiver Operator Curve) of 0.79.  This is a commonly used measure of accuracy for predictive tests.  An ROC of 0.5 means a test has no predictive value; the higher the ROC value the more accurate is the test.  Predictive tests commonly fall into the 0.6 - 0.8 range. Respiragene™'s ROC of 0.79 compares favorably to other widely used clinical tests such as:

• the Framingham Test (risk of heart disease) ROC of 0.74
• the Gail Test (risk of breast cancer) ROC of less than 0.60

We take your health and privacy seriously. Please see our Privacy Policy for a full description of how we collect your info, use it and store it. We and our partners agree to be bound by the relevant privacy statutes in every jurisdiction in which the Respiragene™ test is sold and processed. 

Neither MDL, which operates the laboratory which processes your test, nor Synergenz, which is helping market Respiragene™, will assert ownership over your DNA.  We pledge to use your DNA only for the purposes which you specifically authorize.  We will not store your DNA for any longer than is commercially necessary or for such time as required by applicable law.

We will not sell, share or transfer, or hold with the intention of selling, sharing or transferring, your DNA or any data derived from tests or assays performed on it, to any other party for any reason apart from the purposes which you specifically authorized the performance of the Respiragene™ test on your sample.

Also, we will require you to consent to the processing of your test as part of the test request process.

Although smokers may not all suffer illness from their smoking before they die, they all certainly should be concerned for their health. One in four smokers loses an estimated 20 years of life expectancy, and many suffer poor quality of life in later years.

Smokers have been advised for the last 40 or more years that smoking is associated with increased risk of heart attack, lung cancer and lung disease (emphysema or Chronic Obstructive Pulmonary Disease). The general public health message recognizes that fear is a powerful motivator and today's smoking rates have dropped dramatically from those of the 1950s and 1960s in response to this education. Despite these warnings, however, a significant percentage of the population of all industrialized countries continues to smoke because they are addicted to nicotine and because they continue to underestimate their own risk of an adverse outcome relative to the average smoker (also known as "optimistic bias"). The continuing smoker believes the perceived benefits of smoking outweigh the accumulating harms, and he or she will be the one who will "get away" without complications.

Numerous studies show that smokers quit when they acknowledge the benefits for them no longer outweigh the harms. In those over 45 years of age, this decision is most often based upon concerns about their own poor health. Primary prevention is a public health strategy that is based on prompting changes in individuals' attitude through education and adoption of a healthier lifestyle. It is based on a fear of poor health and by definition targets the "worried well".

In contrast to several existing genetic tests for many common disorders, the Respiragene™ test for lung cancer susceptibility is highly relevant to smokers and ex-smokers because the test identifies those individuals who are without question those at risk of lung cancer, and because a heightened concern about lung cancer risk is the very basis on which people act as they make the effort to quit. 

Family history does help and it is factored into this test. But only 10 to 20% of people with lung cancer have a first-degree relative with lung cancer. The increased risk associated with a "positive" family history of lung cancer is approximately 2 to 3 times higher than for those who smoke and have no family history.

Family history captures genetic factors specific to each family; the genetic SNP testing is assessing genetic risk found across populations.

The variables are age over 60, the presence of COPD and a family history of lung cancer. If someone were relying on these non-genetic variables alone to predict lung cancer risk, they would be relying on variables that often emerge only later in a patient's life and missing out on a significant level of predictive risk information which can be useful in seeking preventative interventions for patients earlier in their lives  Of those diagnosed with lung cancer, more than half have COPD but are not aware of it.

Most of the genetic data will be of limited clinical value, now or in the future. A large number of the genetic variants identified in such a scan have no functional effects, and account for a limited amount of the overall risk. Risk assessment is greatly improved by examining many genetic variants and combining them with relevant environmental factors, as seen in the Respiragene™ test.

The test was developed in studies among smokers and ex-smokers who had smoked the equivalent of 20 cigarettes a day for 20 years or more. These people were over 40 and those who had stopped smoking mostly had quit within the last 10 years of participating in the trials. If your gene score alone is high, you are at increased risk.

Respiragene™ is a predictive test for susceptibility to lung cancer, and not a diagnostic test for the presence or absence of cancer. Based on studies to date, the Respiragene™ lung cancer susceptibility score achieves a sensitivity of 90% and specificity of 45% at a cut off of score of 4 or more, which, as an example, is better than the performance of the widely-used serum cholesterol test in predicting heart disease. Both the magnitude of the risk discovered and the degree of precision underlying the result is much higher than with single SNP tests and comparable, or greater than, personal risks measured by existing predictive tests in other diseases, e.g. elevated cholesterol or a smoking habit's association with the likelihood of heart attack.

A Respiragene™ test costs $700.  At this price, it fits into the range of products and interventions focused on smoking cessation (therapeutics, nicotine replacement, counseling) and lung cancer detection (CT scans, etc), depending on the patient's health plan and country location and local health systems.

Insurers and public payers are increasingly seeing the immediate and long term benefits of personalized, preventative medical intervention, although we cannot guarantee that all  insurance providers or payers will reimburse your patient for their Respiragene™test. We are working to make the case for reimbursement or subsidy in all key markets where Respiragene is available in the United States.