Thursday, November 20, 2008
Race and the clinical exam
In the last several months it has become increasingly clear that I am guilty of racial profiling. Before you get too upset with me, consider the following behavior: if I see a patient considering pregnancy, and they appear to be Caucasian, I am far more likely to discuss screening for cystic fibrosis carrier status than sickle cell disease. Rarely do I ask the question formally: "With what racial group do you identify?" before I make this decision. Rarely do I discuss the decision process with my patients. I suspect that I am not alone.
What should the health care provider do in light of emerging understanding of race and ethnicity?
"Racial profiling" is reinforced by many national care guidelines, and is embedded in the training of health care providers from their first course in physical diagnosis. The conscious and sub-conscious binning of individuals by observed physical characteristics is one way to estimate an individual's personal probability of having certain diseases. Assessment of individuals through the lens of a population sub-group occurs at many junctures in the care delivery process, and rests on epidemiologic data demonstrating that disease prevalence varies among population groups.
The logic supporting such an approach is as follows: Particular sub-populations are at higher risk for certain conditions. Effectively distinguishing the sub-population to which an individual belongs helps to define that individual's probability of developing a given diagnosis. Accurate assignment of risk brings parsimony to the processes of prevention efforts, screening, differential diagnosis formulation, diagnostic workup and, potentially, therapeutic intervention.
The binning of individuals by race and ethnicity is only one of a variety of discriminators health care providers routinely employ. The utility of binning individuals depends heavily on the quality of the determinants used to separate populations, and while age and gender are arguably fairly clear-cut, less controversial biological discriminators of disease risk, race and ethnicity are most certainly not.
The wealth of accumulating DNA sequence data from multiple individuals representing multiple population groups reveals that our understanding of human genetic variation is only rudimentary. Accompanying this realization is a growing acceptance that current definitions of race and ethnicity are poor proxies for estimating the genetic component of individual disease risk.
The bottom line is that the DNA of the U.S. population defines the cliche: We are a melting pot. Genetic variability is, in fact, greater between unrelated individuals than it is between racial and ethnic groups. Currently accepted racial and ethnic categories are a blur genetically, and drawing clinically useful boundaries for the purposes of assigning individuals to a group is quite difficult.
What effect does this have on clinical care? Fundamentally, it causes errors in assignment of risk because using self-defined race and ethnicity may over or under estimate actual risk. This can result in harms in a variety of ways, but most commonly as a consequence of providing too little (or too much) care.
How might the issue of assigning individual genetic risk in the setting of complex genetic ancestry be resolved? Options include eliminating the use of race and ethnicity as a consideration when deciding whether to offer genetic testing for disease risk or diagnostic purposes. The prototypical example of this approach can be found in the example of cystic fibrosis carrier screening, where the most recent guidelines suggest genetic screening should be offered in the prenatal setting to individuals of all races and ethnicities. Though in the case of cystic fibrosis screening this approach offers increased sensitivity, screening a larger population clearly results in increased costs.
Another approach would be to use genetic markers as a pre-test for the ancestry of regions of DNA harboring potential deleterious gene mutations of interest and then to base genetic testing on this ancestral determination. This could be practical when genetic tests are expensive and knowledge of the ancestral derivation of the DNA would determine the most cost-effective testing strategy. An example would be choosing between targeted mutation testing and full sequencing of the BRCA 1 and BRCA 2 genes in hereditary breast and ovarian cancer syndrome in an individual that might or might not be of Ashkenazi Jewish ancestry. However, such a genetic pre-test would amount to the morally tenuous use of genetic tests for racial and ethnic profiling.
Clearly neither of these approaches is fully satisfying. The best solution would be the advent of extremely low-cost full genome sequencing techniques that would reveal the entirety of an individual's genetic variation. This sequence information would allow an individual's care to be based on their own genetic variations rather than crude estimation of genetic risk. Of course this requires not only the availability of low-cost sequencing (which seems possible in the relatively near term) but an understanding of how the individual's genetic variants interact with each other and the environment to cause disease, a topic for more research and another column.
What should the health care provider do in light of emerging understanding of race and ethnicity? First, re-examine your own preconceptions regarding race and ethnicity, and how you use them in your practice. You may find that you are doing your patients a disservice. Second, take an appropriate family history, including the ancestral origins of the patient's grandparents. Third, if you use an individual's self-identified race/ethnicity in medical decision making, particularly with regard to genetic testing, recognize that the information provided you is less reflective of genetic variation than previously thought.
Patients should understand that we have much to learn about genetic variation, and that our current methods for selecting individuals for genetic tests as well as test interpretation are far from perfect. Finally, if you are an educator, examine how you teach your students and trainees to think about approaching the evaluation of patients. Make sure that they understand what genomics is revealing about how genetic variation in individuals and in populations relate to one another. With a firm grounding and the current pace of genomic discoveries, they will likely be the generation that resolves the controversies surrounding the use of race and ethnicity in health care.
W. Gregory Feero, MD, PhD, a family physician with a doctorate in human genetics, is senior adviser for genomic medicine in the Office of the Director at the NIH's National Human Genome Research Institute. His column runs every issue in ACP Internist.
Contact ACP Internist
Send comments to ACP Internist staff at firstname.lastname@example.org.
- Dr. Robot to the rescue
- Data-mining goes down in court
- He's not done yet.
- Unhappy docs
- Congrats, Burlington: America's healthiest city
- Medical News of the Obvious
- Colbert on Drugs
- Celebrating World Diabetes Day with a splash
- Are we reinforcing your obsession with internal me...
- Power to the patient! (with your encouragement)
Members of the American College of Physicians contribute posts from their own sites to ACP Internistand ACP Hospitalist. Contributors include:
Albert Fuchs, MD, FACP, graduated from the University of California, Los Angeles School of Medicine, where he also did his internal medicine training. Certified by the American Board of Internal Medicine, Dr. Fuchs spent three years as a full-time faculty member at UCLA School of Medicine before opening his private practice in Beverly Hills in 2000.
And Thus, It Begins
Amanda Xi, ACP Medical Student Member, is a first-year medical student at the OUWB School of Medicine, charter class of 2015, in Rochester, Mich., from which she which chronicles her journey through medical training from day 1 of medical school.
Zackary Berger, MD, ACP Member, is a primary care doctor and general internist in the Division of General Internal Medicine at Johns Hopkins. His research interests include doctor-patient communication, bioethics, and systematic reviews.
Controversies in Hospital
Run by three ACP Fellows, this blog ponders vexing issues in infection prevention and control, inside and outside the hospital. Daniel J Diekema, MD, FACP, practices infectious diseases, clinical microbiology, and hospital epidemiology in Iowa City, Iowa, splitting time between seeing patients with infectious diseases, diagnosing infections in the microbiology laboratory, and trying to prevent infections in the hospital. Michael B. Edmond, MD, FACP, is a hospital epidemiologist in Richmond, Va., with a focus on understanding why infections occur in the hospital and ways to prevent these infections, and sees patients in the inpatient and outpatient settings. Eli N. Perencevich, MD, ACP Member, is an infectious disease physician and epidemiologist in Iowa City, Iowa, who studies methods to halt the spread of resistant bacteria in our hospitals (including novel ways to get everyone to wash their hands).
db's Medical Rants
Robert M. Centor, MD, FACP, contributes short essays contemplating medicine and the health care system.
Juliet K. Mavromatis, MD, FACP, provides a conversation about health topics for patients and health professionals.
Dr. Mintz' Blog
Matthew Mintz, MD, FACP, has practiced internal medicine for more than a decade and is an Associate Professor of Medicine at an academic medical center on the East Coast. His time is split between teaching medical students and residents, and caring for patients.
Toni Brayer, MD, FACP, blogs about the rapid changes in science, medicine, health and healing in the 21st century.
Vineet Arora, MD, FACP, is Associate Program Director for the Internal Medicine Residency and Assistant Dean of Scholarship & Discovery at the Pritzker School of Medicine for the University of Chicago. Her education and research focus is on resident duty hours, patient handoffs, medical professionalism, and quality of hospital care. She is also an academic hospitalist.
John H. Schumann, MD, FACP, provides transparency on the workings of medical practice and the complexities of hospital care, illuminates the emotional and cognitive aspects of caregiving and decision-making from the perspective of an active primary care physician, and offers behind-the-scenes portraits of hospital sanctums and the people who inhabit them.
Ryan Madanick, MD, ACP Member, is a gastroenterologist at the University of North Carolina School of Medicine, and the Program Director for the GI & Hepatology Fellowship Program. He specializes in diseases of the esophagus, with a strong interest in the diagnosis and treatment of patients who have difficult-to-manage esophageal problems such as refractory GERD, heartburn, and chest pain.
Mike Aref, MD, PhD, FACP, is an academic hospitalist with an interest in basic and clinical science and education, with interests in noninvasive monitoring and diagnostic testing using novel bedside imaging modalities, diagnostic reasoning, medical informatics, new medical education modalities, pre-code/code management, palliative care, patient-physician communication, quality improvement, and quantitative biomedical imaging.
William Hersh, MD, FACP, Professor and Chair, Department of Medical Informatics & Clinical Epidemiology, Oregon Health & Science University, posts his thoughts on various topics related to biomedical and health informatics.
David Katz, MD
David L. Katz, MD, MPH, FACP, is an internationally renowned authority on nutrition, weight management, and the prevention of chronic disease, and an internationally recognized leader in integrative medicine and patient-centered care.
Richard Just, MD, ACP Member, has 36 years in clinical practice of hematology and medical oncology. His blog is a joint publication with Gregg Masters, MPH.
Kevin Pho, MD, ACP Member, offers one of the Web's definitive sites for influential health commentary.
Michael Kirsch, MD, FACP, addresses the joys and challenges of medical practice, including controversies in the doctor-patient relationship, medical ethics and measuring medical quality. When he's not writing, he's performing colonoscopies.
Elaine Schattner, MD, FACP, shares her ideas on education, ethics in medicine, health care news and culture. Her views on medicine are informed by her past experiences in caring for patients, as a researcher in cancer immunology, and as a patient who's had breast cancer.
Mired in MedEd
Alexander M. Djuricich, MD, FACP, is the Associate Dean for Continuing Medical Education (CME), and a Program Director in Medicine-Pediatrics at the Indiana University School of Medicine in Indianapolis, where he blogs about medical education.
Rob Lamberts, MD, ACP Member, a med-peds and general practice internist, returns with "volume 2" of his personal musings about medicine, life, armadillos and Sasquatch at More Musings (of a Distractible Kind).
David M. Sack, MD, FACP, practices general gastroenterology at a small community hospital in Connecticut. His blog is a series of musings on medicine, medical care, the health care system and medical ethics, in no particular order.
Reflections of a Grady
Kimberly Manning, MD, FACP, reflects on the personal side of being a doctor in a community hospital in Atlanta.
The Blog of Paul Sufka
Paul Sufka, MD, ACP Member, is a board certified rheumatologist in St. Paul, Minn. He was a chief resident in internal medicine with the University of Minnesota and then completed his fellowship training in rheumatology in June 2011 at the University of Minnesota Department of Rheumatology. His interests include the use of technology in medicine.
Technology in (Medical)
Neil Mehta, MBBS, MS, FACP, is interested in use of technology in education, social media and networking, practice management and evidence-based medicine tools, personal information and knowledge management.
Peter A. Lipson,
Peter A. Lipson, MD, ACP Member, is a practicing internist and teaching physician in Southeast Michigan. The blog, which has been around in various forms since 2007, offers musings on the intersection of science, medicine, and culture.
Why is American Health Care So Expensive?
Janice Boughton, MD, FACP, practiced internal medicine for 20 years before adopting a career in hospital and primary care medicine as a locum tenens physician. She lives in Idaho when not traveling.
World's Best Site
Daniel Ginsberg, MD, FACP, is an internal medicine physician who has avidly applied computers to medicine since 1986, when he first wrote medically oriented computer programs. He is in practice in Tacoma, Washington.
Other blogs of note:
American Journal of
Also known as the Green Journal, the American Journal of Medicine publishes original clinical articles of interest to physicians in internal medicine and its subspecialities, both in academia and community-based practice.
A collaborative medical blog started by Neil Shapiro, MD, ACP Member, associate program director at New York University Medical Center's internal medicine residency program. Faculty, residents and students contribute case studies, mystery quizzes, news, commentary and more.
Michael Benjamin, MD, ACP member, doesn't accept industry money so he can create an independent, clinician-reviewed space on the Internet for physicians to report and comment on the medical news of the day.
The Public Library of Science's open access materials include a blog.
One of the most popular anonymous blogs written by an emergency room physician.