A Piece of My Mind
JAMA April 10, 2013
Preparing for the 21st-Century Patient
Author Affiliation: Georgetown University School of Medicine, Washington, DC ( email@example.com).
.Over dinner recently, my good friend Khashif (not his real name) introduced a topic I hadn't quite expected. He told me about his genetic profile. Mostly out of curiosity, and without any prompting from his physician or an immediate medical concern, my young, ostensibly healthy friend had sent $200 and some of his saliva to a direct-to-consumer (DTC) commercial laboratory. A few weeks later, they gave him their assessment of his risk for various diseases and drug responses, along with a gene-based analysis of his likely ancestral origins and a few selected physical traits.
.As my friend continued describing his experience, I quickly realized that this was not a traditional medical scenario. In an era of declining medical paternalism and increasing patient empowerment, DTCs have opened a door to our most personal data—DNA—allowing patients to bypass the health care establishment entirely.
.Today, thousands of people have gone online and accessed their genetic information. Some view the information recreationally, but to others, genetic profiles provide a new perspective on their health. The latter group has highlighted one of the first concerns for the patient-physician relationship in the post–Human Genome Project era. For future physicians like me, Khashif and his cohort also highlight a new challenge for medical education.
.NEW DATA FOR THE TRADITIONAL PHYSICIAN.
...According to his genetic profile, Khashif has an above average risk of developing type 2 diabetes. He is also a carrier for Tay-Sachs disease, and he has particular variations in drug-metabolizing liver enzymes, among other findings. After receiving his report, he embraced the information. He started eating healthier foods and joined a running group. He went online to learn about Tay-Sachs and what his liver enzyme status meant for his alcohol and caffeine consumption. He also sent a copy of his report to his primary care physician, whose knowledge and guidance, he felt, would help him make better sense of the report. But during his next visit, his physician brushed the report aside and went on with business as usual.
.My friend couldn't understand why his physician had dismissed his genetic profile. He didn't know that a standard lesson every medical student learns is “Don't order a test unless you are sure the results will affect your plan of action.” Roughly 25% of the known risk of developing type 2 diabetes is due to inheritance. This means that factors like diet, weight, and gender play a bigger role than genetic mutations. This also means that, regardless of his genetic profile, most health care professionals would encourage Khashif to eat vegetables and exercise regularly. But his physician didn't convey these points to him.
.Khashif also didn't know that “The diagnosis is usually in the patient's history” is another adage passed from physician to medical student. And while physicians rely on personal and family histories to help make diagnoses, these clinical tools are by no means perfect. Few patients can accurately recount their relatives' health problems. However, “-omic” data have not yet produced any reliable new methods to improve detection or treatment of chronic disease. Until that day arrives, physicians will have to use more familiar tools. But my friend's physician didn't explain that either.
.Possibly, this physician didn't discuss Khashif's genetic findings with him because he hadn't been prepared to do so. Teaching styles and curricula may vary from school to school, but in the Venn diagram of medical education, there is a very large overlapping area. Currently, that central area does not include much genetic or genomic training.
.This lack of training has implications for patients and physicians dealing with genetic data, especially data from DTC reports. For people like Khashif, this means that he probably would not have discovered certain aspects of his health through regular clinical visits. For his physician, it could mean uncertainty regarding the significance of the genetic test results. Perhaps his genetic information didn't demand as much immediate attention as other aspects of Khashif's health, but it raised concerns worth addressing.
.Our medical students are taught techniques and procedures based on a history of scientific and clinical evidence. They are instilled with a sense of leadership to guide safe, reliable, cost-conscious care for their patients. And as stewards of medical knowledge, physicians assume responsibility for ensuring that patients understand the tests they order and treatments they suggest. But what if the patient interrupts this system and orders a test? What if the medical experts are not prepared to analyze the results and follow up on them? And to complicate matters more, what if the physician cannot effectively engage in dialogue with such patients? These are the questions that a new, technology-savvy, information-seeking group of patients poses to physicians and medical education.
.NEW MISSION FOR NEW PHYSICIANS.
...I had known Khashif to be mostly sedentary, and not someone who scrutinized what he ate. Of the few former smokers I know, he was the last to quit. To say the least, I was taken aback by his new-found interest in his health. Regardless of any medical opinions, his genetic profile engaged him. His dietary and exercise adjustments are the type of behavior change every physician would love to see. He told me he appreciates knowing more about his health and himself. His profile had led him to contemplate his choices in life and what he wanted for his future, and I was impressed by his introspection. But he also told me that he hadn't discussed his results with a genetics counselor, physician, or any health care professional for that matter. This troubled me greatly.
.While his DTC contract gave him an option to talk with a counselor, he had hoped to discuss the results with his primary care physician. But the problem for Khashif and his physician stemmed from the fact that medical education isn't always in sync with clinical practice. His physician, like the vast majority of practicing physicians in the United States, wasn't trained to deal with DTC data, or most forms of genetic testing for that matter. Several surveys reflect this reality. The most telling may be that nine out of ten member-physicians of the American Medical Association do not feel prepared to implement FDA-approved genetic testing recommendations in their practice.1 What is worse is that patients sense this discomfort in their physicians. A 2011 national survey revealed that only 17% of Americans “believes their physician is up-to-date and knowledgeable about genomics-based medicine.”2 My friend is not likely to be the only patient with a DTC genetic profile who felt and was possibly dismissed by his physician.
.These survey results, however, are not evidence of any incompetency. Practicing physicians have passed rigorous examinations designed to ensure that they know what has been tried and proven in health care, and more importantly, that they recognize those tools, procedures, and drugs that will not benefit their patients. In an age when the public has unprecedented access to medical knowledge, being able to communicate that distinction to patients may be one of the most important qualities a physician may possess. But in an age when the public has access to medical testing, that quality is essential to maintaining a meaningful patient-physician relationship.
.MAINTAINING THE RELATIONSHIP.
...The debate surrounding regulation of the DTC market is still active and becoming increasingly contentious. Various physicians, scientists, lawyers, entrepreneurs, venture capitalists, policy makers, and consumers all have something at stake here, and all have a belief as to who should be in charge of obtaining genetic information. But regardless of whether the law hands the keys to physicians or to patients, the marriage of medical innovation with the Internet will change the health care landscape. Even if patients are limited to reading about genetic profiling, they will develop impressions of its utility in their lives. They will have questions; they will have misperceptions; in some cases they may not understand it at all. But hopefully they will return to their physician for guidance and explanations.
.Genetic testing isn't the first patient-generated challenge physicians have faced. A growing interest in over-the-counter alternative medications, like St John's wort or gingko biloba, has recently tested the medical community's ability to work with curious, proactive patients. Many schools and residency programs acknowledge this new trend in health care, and they have responded by adding lectures, training exercises, and even certification programs to their curricula. Physicians today are much better prepared to counsel this group of patients than before.
.DTC genetic profiling may be the first drops of rain in what could be a perfect storm of patient empowerment and medical innovation. In the world of whole genome sequencing, many are talking about the “thousand dollar genome.” This technology, and many others like it, may one day change the way we practice medicine. But until that day arrives, the challenge for my cohort of future physicians is that we handle our patients' curiosity with care. If we want to maintain good relationships with them, we have to understand their concerns, appreciate their motivations, and educate them when necessary. Hopefully, all of our patients will want to talk with their physicians and seek their advice. We should be prepared for them.
..Additional Contributions: I would like to thank Beth Peshkin, MD, CGC, and Caroline Wellbery, MD, PhD, of the Georgetown University Medical Center for their support and guidance.
..1 +Marshall E. Human genome 10th anniversary: waiting for the revolution. Science. 2011;331(6017):526-529
.2 + Americans skeptical of physicians' knowledge of genomics. http://www.cogentresearch.com/news/Press%20Releases/CGAT_2010_Press%20Release_1_25_11.pdf