Precision Medicine vs. Imprecise Medicine
If you happen to own a Lamborghini or Maserati…would you prefer to take it to the mechanic down the block, or find the best technician or auto shop that specializes in the specific car you drive? Would you consider an average mechanic for an above-average auto?
At the moment, the ‘mechanics’ in our health care system typically view us as average. Yet there is nothing average about you, your health, life or family. Ironically, even the average person always identifies themselves as being well above the average! Would you be comfortable if any of your assets, much less the most valuable and irreplaceable assets of your health and life, were under the guidance of an average manager? Even if you had a great asset manager, but they were limited to only average options, would that be acceptable?
Health Care as a Limited Resource for the ‘Average’ Individual
The development of our current health care was based on the principle that health care is a limited resource. Current treatment guidelines are based on the fallacy that what is best for the average population is best for the individual. While the intent was meant to allow for a more equitable distribution of health care, the disadvantage is that no one receives optimal health care.
Taking the average of the population may provide logical but nonsensical results. For example, an ‘average’ person would have one ovary and one testicle. Even if everyone were of the same gender, age, weight, ethnicity etc., statistically less than one percent of the population is at the midpoint of the true average. The advances in the life sciences, in particular the sequencing of the human genome provided even more detailed information about how each of us is unique. Less detailed and more readily available testing can now determine which treatment options will provide the response at the lowest risk.
Currently in traditional Western medicine, prescription pharmaceuticals are the treatment of choice. The medicine selected, dose, quantity, time interval and duration have all been determined by using what is best for the ‘average’ individual. There are four potential categories of response, but the only one acceptable is that the medicine is effective and does not cause any side effects. The other three categories: 1) effective with side effects, 2) not effective and no side effects, 3) not effective and with side effects are increasingly unattractive.
Advanced Screening Techniques and Reduced Morbidity and Mortality
Recently, innovations in genomics, molecular biology and advanced imaging have revolutionized the field of medicine. Active prevention, targeted screening and surveillance, early diagnosis, reduction in health care costs, avoidance of injury and delayed mortality are now well within the realm of possibilities for many cancers and other diseases. Characterization of circulating tumor DNA can detect multiple cancer types simultaneously and non-invasively up to four years earlier than traditional methods. It has been estimated that these advances alone can reduce cancer mortality up to 25 percent through early diagnosis. In addition to the lives saved, earlier therapy is less expensive, better tolerated and substantially more effective.
This new blood test is now commercially available by prescription for individuals considered at higher risk for cancer. This is a very broad category that includes the vast majority of the over 330 million Americans. Several insurance companies are now covering this service because they recognize that genomic testing of their population of insured offers them a substantial return on investment. Without insurance coverage, the retail cost of this test is $950.
50 Percent of Men and 33 Percent of Women in the United States Will Develop Cancer
Half of all men and one-third of all women in the U.S. will develop cancer during their lifetimes. Most Americans are unaware of how common and life-threatening cancer is, as well as the risk factors that are associated with various forms of the disease. This knowledge is key to prevention and early diagnosis, which translates directly into years of healthy living saved, reduced medical expenses, avoiding lost earnings and preventing pain and suffering. Even factors that cannot be influenced, including age 50 or greater, family history of cancer, genetic predispositions, ethnic or racial heritage and height, can be recognized as risk factors and contribute to awareness and an earlier diagnosis. Age is an equal opportunity risk factor, and while in general it increases the risk with time, there are cancers which decrease in incidence once the peak age has passed. Hereditary and genetic factors are associated with up to 20 percent of cancers. A taller person may benefit from the uncommon knowledge that greater height, which is often an inherited trait, is associated with an increased risk of cancer of the breast, colon, prostate, ovary, pancreas and kidney.
Hereditary Factors, Genetic Mutations and Genomic Sequencing
Hereditary factors, usually identified through the recording and analysis of a family history, are commonly recognized in cancer of colon, breast, prostate, ovary, uterus and pancreas. Hereditary and non-hereditary genetic mutations that can be identified with genomic analysis are expanding rapidly and now include many types of cancer: breast, uterus/cervix, colon, rectum, stomach, pancreas, thyroid, parathyroid, pituitary, kidney, prostate, ovary, adrenal, skin, brain, nervous system, blood, bone marrow, bone, muscle and connective tissue.
In addition to its value in identifying the risk profile, genomic sequencing is also leading to precision care through the selection of therapy with the greatest likelihood of response and benefit, the lowest risk of nonresponse and adverse reactions, and the optimal dose and schedule of therapy. The cost of these genomic panels that screen hundreds of data points is typically under $300. Approximately 20 percent of genomic screening tests will have a positive result identifying a higher risk for a medical condition of concern. The vast majority of these have actionable results where the risk can be mitigated or eliminated. For these individuals, the return on investment may be priceless. For those who have negative results, the primary ROI is priceless reassurance.
Welcome to the World of Precision Medicine
The era of precision medicine has finally arrived, but it will still take many years to be fully adopted and implemented. Most health care providers are not fully aware of its great advantages and benefits, or how to access it. Insurance companies are just beginning to embrace it for cancer care, where the ability to avoid very expensive but ineffective chemotherapy provides a rapid return on investment from a population-based perspective. Few people have any idea how frequent adverse side effects occur from prescription medicines. While Western medicine strives to help people, the unfortunate reality is that millions of adverse events and errors occur with over 400,000 deaths each year in the United States.
The price of being treated as an ‘average’ person has never been more expensive. Being informed and aware of precision medicine opportunities offers an excellent return on one’s investment in personal health. Keeping up with the advanced technologies will allow for precision care of the highest magnitude. Having the knowledge and resources to access this form of medical care when it is merited can make the difference between sub-optimal and optimal results for you and your loved ones. This knowledge is well worth it!
Joseph B. Weiss, M.D. FACP, FACG, AGAF, is a physician and Clinical Professor of Medicine in the Division of Gastroenterology, Department of Medicine, at the University of California, San Diego. Double Board Certified in Internal Medicine and Gastroenterology, he has remained active on the clinical faculty of UCSD School of Medicine for over 35 years. Dr. Weiss is a highly regarded and accomplished consultant, author, professional speaker, humorist and thought leader. More information at www.smartaskbooks.com.
Nancy Cetel, MD is an engaging and passionate physician, author and professional speaker. Following her graduation from the New York University School of Medicine, she obtained her postgraduate training in Reproductive Endocrinology at the University of California, San Diego and Obstetrics and Gynecology at the University of Southern California. Her pioneering research in hormonal issues led to numerous publications and awards. Dr. Cetel is often referenced in books and journals and is a frequently invited lecturer nationally and internationally. Live appearances and interviews have brought her acclaim as an accomplished communicator and advocate for an informed public. Her passions include her family, vegetarian cooking, dancing and the joys of being a grandparent. More information at www.doublemenopause.com.