Editorials
This editorial exemplifies the AAFP 2005 Annual
Clinical Focus on the legal, social, clinical, and ethical issues of medical
genomics.
Genomic Medicine for Underserved Minority Populations in Family Medicine
Historically, underserved minority populations have been the last to benefit from medical advances. Innovations from the Human Genome Project offer an opportunity to reduce health disparities by using targeted preventive programs and improving physicians' awareness of common polygenic conditions and less common single-gene disorders that are more prevalent among several minority populations, such as persons of Mexican or African ancestry. The recent debate on race, ethnicity, and genetics includes a spectrum of opinion, from persons advocating a genetic explanation for health differences1 to others who suggest that such differences have much more to do with socioeconomic status and that pursuing the former merely increases discrimination.2 Such discussion is important, but meanwhile, family physicians face the reality of the increased exposure to genetic screening and the need for better documentation of familial predisposition for disease.3 It is vital that genomic medicine is not only used by more affluent members of society, but also reaches underserved minority populations.
Appropriate caution is needed. As described by Wattendorf and Hadley4 in this issue of American Family Physician, an individual's ethnic or racial origin may trigger screening for specific inherited predispositions or single-gene disorders, such as sickle cell disease in persons of African ancestry.4,5 Preconceptional and prenatal genetic screening can inform couples of the risk that their child will be affected with these disorders.6 However, intermarriage and the uncertain ancestry of our increasingly diverse populations make genetic screening based solely on perceived ethnic origin problematic.7 In England, for example, an African-Caribbean woman with sickle cell trait (SCT) recently sued her doctor after her white partner was denied SCT testing, resulting in delayed diagnosis of their child with sickle cell disease. Subsequent confirmation of the diagnosis resulted in a breakdown of the couple's relationship when the doctor stated that her partner could not be the baby's father (B. Modell, written communication, 2004). This case exemplifies the importance of ascertaining ancestral genetic background rather than making assumptions based on perceived ethnic identity.
In the distant future, individual susceptibility to major common polygenic diseases such as heart disease and cancer may be ascertained from DNA genetic profiling. Until then, family physicians must rely on an accurate assessment of a patient's family and ancestral history. Taking a conventional family history identifies genetic predispositions and environmental contributions, such as a high-fat diet and smoking. If we are also to record patients' ancestry, a single question about ethnic origin appears inadequate but can be improved by collecting information about relatives' ethnicity and country of origin.8 For example, the label "Latino" embraces many countries and cultures: in genetic terms, a Latino of Spanish-Caribbean origin may be at greater risk of SCT because of some African ancestry than a Latino of Mexican origin. The systematic collection of family information with sensitive exploration of ancestry and cultural background is likely to prove particularly useful in identifying diseases that cluster in certain families.4,9 This includes predicting adult onset of major chronic disease and identifying disorders with reproductive risk, which could trigger screening of other close relatives ("cascade screening").5,10
Realizing the preventive benefits of identifying familial risk in underserved minority populations will demand greater attention to the inequalities in access to services and to achieving cultural competence in genomic health care delivery. Here, the dangers of failing to secure effective communication, including appropriate translation and interpretation, loom especially large. For example, discussion of genetic screening or inherited risk often involves presenting complex information with implications for the whole family. This interaction is a major challenge when the patient and physician do not share the same language and culture, and when counseling about inherited risk may directly affect a relative who is acting as an interpreter.11 Further, ethnic diversity in support and information networks, such as family involvement in a patient's decision to have a genetic test, also may pose ethical dilemmas that are incongruous with traditional approaches to confidentiality.12,13 In all cases, caution is required to avoid stereotyping2,11 and to respond to each patient and their family individually, recognizing that community and sociocultural norms may not hold for them, and indeed may evolve over time.12,14
Advances in genomic medicine will offer an opportunity to narrow health disparities experienced by underserved minority populations through sensitive, targeted interventions. This goal does not require great technologic advances, but can be reached by improving the training of physicians in accurate, culturally competent family history taking.15
Author disclosure: Dr. Qureshi received funding from the Commonwealth Fund.
The opinions and assertions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views of the Commonwealth Fund, its directors, officers, or staff.
The Authors
NADEEM QURESHI, M.SC., is Harkness Fellow in Health Care Policy at the University of Nottingham Faculty of Medicine and Health Sciences, Nottingham, United Kingdom.
JOE KAI, M.D., is professor of primary care at the University of Nottingham Faculty of Medicine and Health Sciences.
Address correspondence to Nadeem Qureshi, M.Sc., Division of Primary Care, Medical School, Queens Medical Centre, Nottingham, NG7 2UH, UK (e-mail: nadeem.qureshi@nottingham.ac.uk). Reprints are not available from the authors.
REFERENCES
1. Burroughs VJ, Maxey RW, Levy RA. Racial and ethnic differences in response to medicines: towards individualized pharmaceutical treatment. J Natl Med Assoc 2002;94(10 suppl):1-26.
2. Sankar P, Cho MK, Condit CM, Hunt LM, Koenig B, Marshall P, et al. Genetic research and health disparities. JAMA 2004;291:2985-9.
3. Qureshi N, Modell B, Modell M. Timeline: raising the profile of genetics in primary care. Nat Rev Genet 2004;5:783-90.
4. Wattendorf DJ, Hadley DW. Family history: the three-generation pedigree. Am Fam Physician 2005;72:441-8.
5. Modell M, Modell B. Genetic screening for ethnic minorities. BMJ 1990;300:1702-4.
6. Leuzzi RA, Scoles KS. Preconception counseling for the primary care physician. Med Clin North Am 1996;80:337-74.
7. Waters MC. Immigration, intermarriage, and the challenges of measuring racial/ethnic identities. Am J Public Health 2000;90:1735-7.
8. Aspinall PJ, Dyson SM, Anionwu EN. The feasibility of using ethnicity as a primary tool for antenatal selective screening for sickle cell disorders: pointers from the research evidence. Soc Sci Med 2003;56:285-97.
9. Qureshi N, Gilbert P, Raeburn JA. Consanguinity and genetic morbidity in a British primary care setting: a pilot study with trained linkworkers. Ann Hum Biol 2003;30:140-7.
10. Yoon PW, Scheuner MT, Peterson-Oehlke KL, Gwinn M, Faucett A, Khoury MJ. Can family history be used as a tool for public health and preventive medicine? Genet Med 2002;4:304-10.
11. Atkin K. Ethnicity and the politics of the new genetics: principles and engagement. Ethn Health 2003;8:91-109.
12. Penchaszadeh VB. Genetic counseling issues in Latinos. Genet Test 2001;5:193-200.
13. Learman LA, Kuppermann M, Gates E, Nease RF Jr, Gildengorin V, Washington AE. Social and familial context of prenatal genetic testing decisions: are there racial/ethnic differences? Am J Med Genet C Semin Med Genet 2003;119:19-26.
14. Qureshi N. The relevance of cultural understanding to clinical genetic practice. In: Clarke A, Parsons E. Culture, kinship, and genes: towards cross-cultural genetics. New York: St. Martin's Press, 1997:111-9.
15. Smedley BD, Stith AY, Nelson AR. Unequal treatment: confronting racial and ethnic disparities in health care. Washington, D.C.: National Academies Press, 2003.
The Role of Literacy in Health and Health Care
Up to 40 percent of American adults have fair to poor literacy skills, which can make it difficult for them to function proficiently in the health care system.1 Studies have shown that patients with inadequate literacy have less health-related knowledge, receive less preventive care, have poorer control of their chronic illnesses, and are hospitalized more frequently than other patients.2 In this issue of American Family Physician, Safeer and Keenan3 raise awareness of patient literacy problems and suggest practical strategies for identifying and addressing the needs of patients who have inadequate literacy.
Health literacy is defined as the capacity to obtain, process, and understand basic health information and services needed to make appropriate health care decisions.4 As described in a report by the Institute of Medicine, health literacy also may require medical knowledge, navigational skills, cultural competency, and initiative. Thus defined, inadequate health literacy can affect patients beyond those with poor reading skills.
There is no proven method to measure health literacy. Previous research has measured the relationship between reading ability and health outcomes2,5; such measures are highly correlated with measures of general reading ability.6-8
Identifying a clear relationship between health
outcomes and literacy is important because physicians may be able to mitigate
the effects of low literacy by
communicating more clearly with patients and
reducing the complexity of care for these patients. For example, patients with
heart failure are frequently told to avoid salt, measure their weight daily,
change their diuretic dose based on weight, and call the doctor for a variety
of reasons. Many patients with inadequate literacy have difficulty learning all
these strategies-particularly when they are recommended all at once and in the
context of a routine office visit when their diabetes and blood pressure
medications also have been changed.
Inadequate literacy is associated with less formal education, lower socioeconomic status, and certain racial and ethnic backgrounds. Addressing literacy-related barriers also may help reduce disparities in health outcomes related to these other markers. Healthy People 2010 and the Institute of Medicine identify health literacy as a priority area for improving health in the United States.9,10
Physicians and patients must cooperate in the outpatient setting to manage multiple chronic diseases. Physicians can do this by providing appropriate self-management support via oral and written communication. By using the spoken word to convey information, physicians have an advantage because verbal literacy usually is greater than written literacy. However, when physicians expect patients to learn and remember more than one or two ideas, they will need reinforcement after they leave the office. Physicians can rely on clear written materials for patients with adequate literacy skills, yet may need to offer further oral instruction in the form of follow-up calls to the home or frequent follow-up visits until the patient masters the necessary skills. Physicians have found that patients with low literacy can learn complicated tasks if given enough instruction.11
To supplement self-management support, Safeer and Keenan3 offer several guidelines for improving written communication. They also note that patients who read at higher levels often prefer information written at a lower grade level and presented in plain language.12 It also has been shown that patients would rather receive directly relevant information about how to care for themselves than explanations of disease pathophysiology. Emphasizing only the two or three highest yield recommendations for any given visit can help ensure understanding and implementation by the patient, regardless of literacy level. Some patients may request more detailed explanations or background information, but our default should be to focus on key behaviors or tasks.
Although better self-care instructions, in oral or written form, can help address disparities according to literacy status, we must not forget about the rest of the health care setting. Patients with low health literacy skills can become frustrated and overwhelmed by having to interact with insurance companies, Medicare or Medicaid, hospitals, and physician offices. The current trend toward more consumer-driven health care also will increase the literacy demands on patients who already struggle to keep up. Helping physician office staff to recognize this common barrier faced by many patients can improve our effectiveness. Organized systems of care, sensitized to the needs of patients with low literacy skills, can mitigate disparities related to literacy.13 One model that has been effective uses mid-level providers and health educators to help patients learn effective self-management behaviors, overcome common barriers to care, and ensure the appropriate intensity of care to reach targets.13
The Institute of Medicine has defined quality health care as safe, timely, effective, efficient, equitable, and patient-centered.14 Addressing the needs of patients who have low literacy is an opportunity we cannot afford to waste.
Author disclosure: Drs. DeWalt and Pignone have received grant support and honoria from Pfizer, Inc. for work related to health literacy. Pfizer had no roll in the preparation or funding of the manuscript.
The Authors
Darren A. DeWalt, M.D., M.P.H., is assistant professor of medicine at the University of North Carolina at Chapel Hill.
Michael P. Pignone, M.D., M.P.H., is associate professor of medicine and associate chief of general internal medicine at the University of North Carolina at Chapel Hill.
Address correspondence to Darren A. DeWalt, M.D., M.P.H., University of North Carolina at Chapel Hill, 5039 Old Clinic Building, CB# 7110, Chapel Hill, NC 27599 (e-mail: dewaltd@med.unc.edu). Reprints are not available from the authors.
REFERENCES
1. Comings J, Reder S, Sum A. Building a level playing field: the need to expand and improve the national and state adult education and literacy systems. Cambridge, Mass.: National Center for the Study of Adult Learning and Literacy, 2001.
2. DeWalt DA, Berkman ND, Sheridan S, Lohr KN, Pignone MP. Literacy and health outcomes: a systematic review of the literature. J Gen Intern Med 2004;19:1228-39.
3. Safeer RS, Keenan J. Health literacy: the gap between physicians and patients. Am Fam Physician 2005;72:463-8.
4. Selden CR, Zorn M, Ratzan SC. Health literacy. Accessed online February 24, 2005, at: http://www.nlm.nih.gov/pubs/cbm/hliteracy.html.
5. Nielsen-Bohlman L, Panzer AM, Kindig DA, Committee on health literacy. Health literacy: a prescription to end confusion. Washington, D.C.: National Academies Press, 2004.
6. Rudd RE, Kirsch IS, Yamamoto K. Literacy and health in America. Princeton, N.J.: Center for Global Assessment, Policy Information Center, Research and Development, Educational Testing Service, 2004.
7. Davis TC, Long SW, Jackson RH, Mayeaux EJ, George RB, Murphy PW, et al. Rapid estimate of adult literacy in medicine: a shortened screening instrument. Fam Med 1993;25:391-5.
8. Parker RM, Baker DW, Williams MV, Nurss JR. The test of functional health literacy in adults: a new instrument for measuring patients' literacy skills. J Gen Intern Med 1995;10:537-41.
9. U.S. Department of Health and Human Services. Healthy people 2010: understanding and improving health. 2d ed. Washington, D.C.: U.S. Dept. of Health and Human Services, 2000.
10. Adams KM, Corrigan J. Priority areas for national action: transforming health care quality. Washington, D.C.: National Academies Press, 2003.
11. DeWalt DA, Pignone M, Malone R, Rawls C, Kosnar MC, George G, et al. Development and pilot testing of a disease management program for low literacy patients with heart failure. Patient Educ Couns 2004;55:78-86.
12. Davis TC, Crouch MA, Wills G, Miller S, Abdehou DM. The gap between patient reading comprehension and the readability of patient education materials. J Fam Pract 1990;31:533-8.
13. Rothman RL, DeWalt DA, Malone R, Bryant B, Shintani A, Crigler B, et al. The influence of patient literacy on the effectiveness of a primary-care based diabetes disease management program. JAMA 2004;292:1711-6.
14. Institute of Medicine. Committee on Quality of Health Care in America. Crossing the quality chasm: a new health system for the 21st century. Washington, D.C.: National Academy Press, 2001.
| Copyright © 2005 by the American
Academy of Family Physicians. |
