Genetic risk factors in COPD and asthma. 3

Genetic factors can make a difference for suitability for lung transplantation, disability payments or oxygen therapy. Leading precision medicine expert explains how individual genes affect lung function in asthma and COPD.

Genetic factors in lung disease. Lung disease genetic predisposition. Dr. Anton Titov, MD. Genetic risks for COPD. Genetic risk for asthma. How personal genetic DNA ancestry determines what normal lung function is for a person. Dr. Esteban G. Gonzalez, MD. Genetic factors in lung disease play important role in establishing “normal value” for lung function. There is no “one size fits all” medicine anymore. We have to treat each individual differently. This is precision medicine goal – to treat everyone differently. Research on genetic diversity shows importance of genetic DNA ancestry in diagnostics. Genetic diversity is important at individual level. Dr. Anton Titov, MD. How genes influence risk of asthma development. How genes influence equations of lung function used in disability payments and ling transplantation. Video interview with top expert in medical genetics and asthma. Medical second opinion confirms that lung disease and COPD diagnosis is correct and complete. Medical second opinion ensures that genetic DNA ancestry information is included in diagnosis of lung disease and COPD. Medical second opinion also helps to choose the best personalized treatment strategy for lung disease and COPD. Seek medical second opinion on and be confident that your precision medicine treatment is the best. Lung disease genetic predisposition. Asthma genetic risk. Medical Second Opinion. Personalized medicine. Dr. Anton Titov, MD. You have recently done a major genetic clinical trial in collaboration with Doctor Carlos Bustamante from Stanford University. This clinical trial showed unexpected results for personalized medicine. This research profoundly influences our approach to genetics of asthma. It shows benefits of personalized medicine. It shows how people respond to medications. It also shows how personal genetics influences the risk of side effects from medications. Dr. Esteban G. Gonzalez, MD. Yes. This clinical trial on personalized medicine was published in the most prestigious scientific journal “Science”. Global media also reported around the world your clinical trial results. Because you have discovered several unexpected findings. Please tell us about your research on precision medicine. Tell us about its implications for everyone in the world. It shows the power of personalized medicine. Medical Second Opinion. Professor of Pharmacogenomics, UCSF. First of all, thank you. This precision medicine clinical trial is the result of major international collaboration. We are a part of a big team of people. We worked with community healthcare providers and with community leaders. We worked with different government agencies. We worked with different medical institutions around the world and in the United States. We studied the genetic DNA ancestry of indigenous populations in Mexico. This people in the United States are called Native Americans. But in Mexico they are called indigenous people. It is the population that were there before Columbus arrived to America. First, we demonstrated that there is a lot of personal genetic diversity among indigenous population in Mexico. Dr. Esteban G. Gonzalez, MD. A Native American in northwestern Mexico is as genetically different from Native American in southeastern Mexico. Difference in DNA is large. It is the same as difference between Chinese person DNA and European person DNA. That was a huge result on its own merit. It’s important for precision medicine. But I am a physician-scientist. I am interested in factors of health that are important for practical medicine. So we measured lung function in indigenous people of Mexico. Lung function is very easy to measure. It is as easy to measure as persons height or heart function. We asked the question. Does personal genetic DNA ancestry make a difference in probability of a person to get lung disease? We included data from Native Americans into the equations to determine if a person meets diagnostic criteria for lung disease. We demonstrated that genetic DNA ancestry makes a difference in diagnostic criteria of lung disease. Genes played a role in as much as 10% of lung function. This is a very significant result for personalized medicine. It changes clinical criteria for diagnosis of lung disease. It is if a person became 10 years older if we looked only at lung function. Medical Second Opinion. The difference in lung function could be as large as 10%. This is clinically important. The results of your clinical trial mean that a person may fulfill criteria for diagnosis of lung disease. Or the person can be considered healthy. The difference is in what is considered “normal” for such person. “Normal” value of lung function usually depends on age. But “normal” value of lung function also depends on personal genetic DNA ancestry of this person. Personalized medicine requires adjustment of diagnostic criteria for each person. Medical Second Opinion. Dr. Esteban G. Gonzalez, MD. Yes. This is important, because criteria of “normal” lung function mean a lot of patients. These equations of lung function are used to determine eligibility for surgery. “Normal values” are also used to determine disability payments to a patient. These criteria are also used to qualify patients for lung transplants, for oxygen therapy and other treatments. Difference of 10% in lung function is large and can change a diagnosis of lung disease of the patient. Diagnosis of many different diseases – asthma, emphysema – depend upon standards of “normal” lung function. Our important conclusion is that we cannot use “one size fits all approach” in medicine. We cannot simply say “because you are a European, all Europeans are the same as you are”. Dr. Anton Titov, MD. This is a goal of personalized medicine – to tailor diagnosis and treatment for each person). Medical Second Opinion: Your research clinical trial included more than 1,000 people from from many regions of Mexico. Your clinical trial conclusions are important for other regions of the world. Northern Europeans are probably very different from Southern Europeans. This is true for other regions. Some people consider homogenous. Sometimes they make diagnostic and treatment decisions in era of precision medicine. Dr. Anton Titov, MD. Medical Second Opinion. There is a “genetic gradient” in Europe between northwest and southeast. Many people migrated in Europe between North and South, between East and West. Europeans are not all the same. Understanding personal genetic diversity is key to precision medicine. We showed the genetic diversity of people in Latin America and in Mexico. People in Mexico are a combination of three major racial groups: African, Native American and European. We showed that genetic DNA ancestry matters in medical decisions. Dr. Esteban G. Gonzalez, MD. This is a major benefit of personalized medicine. This is a very important finding. We repeated the clinical trial in African Americans and obtained similar results. We published our results in New England Journal of Medicine. It is one of the most famous medical journals in the world. Medical Second Opinion. Please tell us examples of precision medicine. Sometimes individual genetic DNA ancestry profoundly influences the risk of getting certain diseases. DNA ancestry affects probability of experiencing side effects from medications. You showed in your research that genetic DNA ancestry plays an important role in multiple sclerosis. Dr. Anton Titov, MD. You also showed that genetic DNA ancestry plays a role in probability of severe side effects from a commonly prescribed epilepsy medication. Carbamazepine, Tegretol. Please tell us more about these two examples. Because they illustrate the benefits of personalized medicine. Medical Second Opinion. Dr. Esteban G. Gonzalez, MD. Yes, this work is a beautiful illustration. Genetic factors in lung disease. How genetic DNA ancestry affects risk of asthma in adults and in children. “Normal lung function” depends on genetic DNA ancestry.