Reconsidering the family history in primary care
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OBJECTIVE: The purpose of this paper is to review the role of the family history in predictive genetic testing, describe how family history taking is practiced in adult primary care, identify the current barriers to appropriate application of the family history, and outline the requirements for a new family history tool for primary care.
DESIGN: We reviewed current perspectives on the family history, identifying key references in the medical literature and web-based family history tools through discussions with multiple content experts in clinical genetics, family medicine, and internal medicine. We conducted a Medline query using the search terms family history and primary care to identify references from the past 10 years. To illustrate the usefulness of family history information, we calculated the predictive value of family history and genetic information for familial adenomatous polyposis using current references and standard formulas. We identified paper and web-based family history tools through discussions with content experts. We also conducted a search on the World Wide Web to identify resources for electronic medical record and family history.
RESULTS: The family history is the most important tool for diagnosis and risk assessment in medical genetics, and promises to serve as a critical element in the use of predictive genetic testing in primary care. Traditional medical education about family history has often been unsophisticated and use of family history in adult primary care has been limited, compounded by multiple substantive barriers. Although there are numerous paper and computer-based aides for taking the family history, none currently meets all the needs of adult primary care.
CONCLUSIONS: The patient’s family history remains a critical element in risk assessment for many conditions, but substantive barriers impede application in primary care practice, and evidence for its contribution to improved health outcomes is limited in this setting. Short of radical changes in reimbursement, new tools will be required to aid primary care physicians in the efficient collection and application of patient family history in the era of genetic testing.
- Evans JP, Skrzynia C, Burke W. The complexities of predictive genetic testing. BMJ. 2001;322:1052–6. CrossRef
- GeneTests Website. Available at: http://www.genetests.org. Accessed May 22, 2002.
- Collins FS, for the National Coalition for Health Professional Education in Genetics (NCHPEG). Annual Meeting. Genetics, Health Care, and NCHPEG. The Future Is Now. NCHPEG Annual Meeting, February 2002, Bethesda, Md.
- Collins FS, McKusick VA. Implications of the Human Genome Project for Medical Science. JAMA. 2001;285:540–4. CrossRef
- Motulsky AG. Forward In: Bennett RL. The Practical Guide to the Genetic Family History. New York, NY: Wiley-Liss; 1999.
- Bennett RL. The Practical Guide to the Genetic Family History. New York, NY: Wiley-Liss; 1999.
- GeneTests Website. Glossary. Available at: http://www.genetests.org. Accessed May 22, 2002.
- Harrison’s Online. Available at: http://www.harrisonsonline.com/. Accessed May 24, 2002.
- Kerber RA, Slattery ML. Comparison of self-reported and database-linked family history of cancer data in a case-control study. Am J Epidemiol. 1997;146:244–8.
- King TM, Tong L, Pack RJ, et al. Accuracy of family history of cancer as reported by men with prostate cancer. Urology. 2002;59:546–50. CrossRef
- Hunt K, Emslie C, Watt G. Lay constructions of a family history of heart disease: potential for misunderstandings in the clinical encounter? Lancet. 2001;357:1168–71. CrossRef
- Bernhardt BA, Pyeritz RE. The economics of clinical genetics services. III. Cognitive genetics services are not self-supporting. Am J Hum Genet. 1989;44:288–93.
- U.S. Preventive Services Task Force. Guide to Clinical Preventive Services, 2nd edn. Baltimore, Md: Williams & Wilkins; 1996.
- Fuchs CS, Giovannucci EL, Colditz GA, et al. A prospective study of family history and the risk of colorectal cancer. N Engl J Med. 1994;331:1669–74. CrossRef
- Winawer SJ, Fletcher RH, Miller L, et al. Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology. 1997;112:594–642. CrossRef
- American Cancer Society Website. ACS Guidelines for Colorectal Cancer Screening Available at: http://www.cancer.org/docroot/NWS/content/NWS_1_1x-asp.ACS_GUIDELINES_FOR_COLORECTAL_CANCER_SCREENING. Accessed August 15, 2002.
- Holtzman NA, Watson MS. Promoting safe and effective genetic testing in the United States. Final report of the task force on genetic testing. Baltimore, Md: Johns Hopkins Press; 1999.
- Yoon PW, Scheuner MT, Peterson-Oehlke KL, et al. Can family history be used as a tool for public health and preventive medicine. Genet Med. 2002;4:3004–310.
- Degowin EL, Degowin RL. Bedside Diagnostic Examination. 2nd edn. New York, NY: Macmillan Co; 1969.
- Bruanwald E, Fauci AS, Kasper DL, et al. Harrison’s Principles of Internal Medicine, 15th edn. New York, NY: McGraw-Hill; 2001.
- Bickley LS, Hoekelman RA. Physical Examination and History Taking, 7th edn. Philadelphia, Pa: Lippincott, Williams & Wilkins; 1999.
- Swartz MH. Textbook of Physical Diagnosis: History and Examination, 2nd edn. Philadelphia, Pa: W.B. Saunders Co.; 1999.
- Saultz JW, ed. Textbook of Family Medicine. New York, NY: McGraw-Hill; 2000.
- Rakel RE, ed. Chapter 2 in: Textbook of Family Practice. Philadelphia, Pa: Saunders WB Co.; 1990.
- McGoldrick M, Gerson R, Shellenberger S. Genograms: Assessment and Intervention, 2nd edn. New York, NY: W.W. Norton; 1999:169–70.
- Daly M, Farmer J, Harrop-Stein C, et al. Exploring family relationships in cancer risk counseling using the genogram. Cancer Epidemiol Biomarkers Prev. 1999;8:393–8.
- Crouch MA, Thiedke CC. Documentation of family health history in the outpatient medical record. J Fam Pract. 1986;22:169–74.
- Acton RT, Burst NM, Casebeer L, et al. Knowledge, attitudes, and behaviors of Alabama’s primary care physicians regarding cancer genetics. Acad Med. 2000;75:850–2. CrossRef
- Hayflick SJ, Eiff MP, Carpenter L, et al. Primary care physicians’s utilization and perceptions of genetics services. Genet Med. 1998;1:13–21.
- Medalie JH, Zyzanski SJ, Goodwin MA, et al. Two physician styles of focusing on the family. J Fam Pract. 2000;49:209–15.
- Acheson LS, Wiesner GL, Zyzanski SJ, et al. Family history taking in community family practice: implications for genetic screening. Genet Med. 2000;2:180–5.
- Rogers J, Durkin M. The semi-structured genogram interview. I. Protocol, II. Eval Fam Sys Med. 1984;2:176–87.
- Waters I, Watson W, Wetzel W. Genograms. Practical tools for family physicians. Can Fam Physician. 1994;40:282–7.
- Health Care Financing Administration (HCFA) Documentation Guidelines; 1997. Available at. http://aaciweb.com/downloadfiles/emguide.pdf. Accessed May 31, 2002.
- Hoppe T, Acosta T. Internal report. Role of Family History in Coding Evaluation and Management Services, 2002. Department of Medicine. Creighton University, Omaha, Neb.
- Part B News Group. E/M Bell Curve Data Book. Rockville, Md: UCG; 1999.
- Medical Group Management Association, 1999. Compensation Production Survey. Englewood, Co: Medical Group Management Association; 2001.
- Bernhardt BA, Weiner J, Foster EC, et al. The economics of clinical genetics services. II. A time analysis of a medical genetics clinic. Am J Hum Genet. 1987;41:559–65.
- Kravitz RL, Callahan EJ, Paterniti D, et al. Prevalence and sources of patients’ unmet expectations for care. Ann Int Med. 1996;125:730–7.
- Rich EC. Whatever happened to managed care? Creighton Magazine. Winter, 2001:36–41.
- Audrain J, Rimer B, Cella D, et al. Genetic counseling and testing for breast-ovarian cancer susceptibility: What do women want? J Clin Oncol. 1998;16:133–8.
- Watson EK, Shickle D, Qureshi N, et al. The ‘new genetics’ and primary care: GPs’ views on their role and their educational needs. Fam Pract. 1999;16:420–5. CrossRef
- Fry A, Campbell H, Gudmunsdottir H, et al. GPs’ views on their role in cancer genetics services and current practice. Fam Pract. 1999;16:468–74. CrossRef
- Metcalfe S, Hurworth R, Newstead J, et al. Needs assessment study of genetics education for general practitioners in Australia. Genet Med. 2002;4:71–7. CrossRef
- Bragg D, Simpson D, Treat R, Holloway R. The Genetics in Primary Care (GPC) Faculty Development Initiative Training Program: Final Evaluation Report. Submitted by the GPC External Evaluation Team from the Medical College of Wisconsin (Richard Holloway, PhD, Project Director) to the GPC Executive Committee; October 4, 2002.
- American Medical Association’s Adult Family History Form. Available at: http://www.ama-assn.org/ama/pub/article/2380-2844.html. Accessed May 22, 2002.
- Oehlke KP. Documenting the Family Health History. An Overview of Available Tools. Presented at a workshop sponsored by Centers for Disease Control, Office of Genomics and Disease Prevention. Family History as a Tool for Public Health and Preventive Medicine. Decatur, Ga; May 1, 2002.
- American Academy of Family Physicians Website. Example of Blank Genogram. Available at: http://www.aafp.org/fpm/20010300/genogram.pdf. Accessed May 22, 2002.
- Acheson LS, Stange KC, Zyzanski SJ, et al. A New Tool for Automating Family History Collection. Presented at the North American Primary Care Research Group Annual Meeting, Nova Scotia, Canada; November 15, 2001.
- Physician Micro Systems, Inc(PMSI)Website Practice Partner Patient Records. Available at: http://www.pmsi.com/products/patient_records/index.html. Accessed May 23, 2002.
- Emery J, Walton R, Murphy M, et al. Computer support for interpreting family histories of breast and ovarian cancer in primary care: comparative study with simulated cases. BMJ. 2000;321:28–32. CrossRef
- The Programme: Primary Ob Genetic Risk Assessment and Management in MainE. Genetic Risk Screening Office Guide. Scarborough, Me: Foundation for Blood Research; 1996.
- MedRules Website. Available at: http://pbrain.hypermart.net/medrules.html. Accessed May 22, 2002.
- National Cholesterol Education Program Website, Adult Treatment Panel III (ATP III) Interactive Guideline Tool. Available at: http://hin.nhlbi.nih.gov/atpiii/atp3palm.htm. Accessed May 24, 2002.
- Reconsidering the family history in primary care
Journal of General Internal Medicine
Volume 19, Issue 3 , pp 273-280
- Cover Date
- Print ISSN
- Online ISSN
- Additional Links
- primary care
- family history
- genetic testing
- medical history taking
- Industry Sectors
- Author Affiliations
- 1. Department of Medicine, Creighton University, 601 N. 30th Street, Ste. 5850, 68131, Omaha, NE
- 2. Department of Medical History and Ethics, University of Washington, Seattle, Wash
- 3. Department of Family Medicine, University of Medicine and Dentistry, New Jersey-Robert Wood Johnson Medical School, New Brunswick, NJ
- 4. The Center for the Advancement of Genomics, Rockville, Md
- 5. Department of Medicine, University of Washington, Seattle, Wash
- 6. Office of Biomedical Science and Clinical Research, American Medical Association, Ohicago, Ill
- 7. the Department of Family Medicine, Case Western Reserve University, Cleveland, Ohio