Family History
http://www.100md.com
《新英格兰医药杂志》
To the Editor: We entirely agree with Guttmacher et al. (Nov. 25 issue)1 about the importance of each patient's filing his or her family medical history. However, we wonder why the "My Family Health Portrait" form2 contains no place to indicate whether family members live together or apart. A positive family history seems attributable to the familial aggregation of genes or to shared environments — diet, living conditions, lifestyle habits, and occupations. Thus, a positive family history among the members living apart would suggest a more potent contribution of genetic factors to the disease than that among the members living together.
Hiroyuki Morita, M.D., Ph.D.
Ryozo Nagai, M.D., Ph.D.
University of Tokyo
Tokyo 113-8655, Japan
hmrt-tky@umin.ac.jp
References
Guttmacher AE, Collins FS, Carmona RH. The family history -- more important than ever. N Engl J Med 2004;351:2333-2336.
U.S. Surgeon General's Family History Initiative. (Accessed January 28, 2005, at http://www.hhs.gov/familyhistory/.)
To the Editor: Are there studies that show conclusively that "interventions that are known to ameliorate such risk" (in reference to cardiovascular disease and stroke) actually decrease the risk or trump a strong family history of premature cardiovascular disease? I would like to think that behavioral, dietary, and pharmaceutical measures help in a patient whose only appreciable risk factor is genetic, but where is the evidence for this? I see a number of athletic, healthy younger patients in this category who are worried about genetic risk and would love to see evidence that interventions are worthwhile in overcoming what is essentially a purely genetic long-term risk. Until that happens, the amelioration mentioned is nothing more than conjecture.
Sammy A. Gammenthaler, M.D.
Park Ridge Cardiology
Hendersonville, NC 28792
To the Editor: Although I agree with the authors' emphasis on the importance of the family history, my own experience suggests that patients are relatively poor historians. In my practice, 63 percent of patients omitted information that was already in the office medical record when they gave their history to a surgicenter nurse, and 23 percent gave the nurse information that was not in the office record.1 When patients completed an identical medical-history form at an interval of three years, 66 percent had at least one significant omission.2
In a pilot study of 25 patients in my breast-surgery practice, I personally obtained a family pedigree for cancer and compared it with the written medical history completed by the patient immediately before the pedigree was obtained. The pedigree identified at least one additional family member with cancer in 84 percent of patients, and the omission was important in 43 percent for clinical management.
Recognizing that more sophisticated methods of information accrual will gradually be implemented, I would strongly suggest that, at present, face-to-face determination of the pedigree is extremely important.
Murray H. Seltzer, M.D.
St. Barnabas Medical Center
Livingston, NJ 07039
mhsmdpa2@aol.com
References
Seltzer MH, Koster DM. Medical history inaccuracies in patients undergoing breast biopsy. The Female Patient 1997;22:35-43.
Seltzer MH, McDermott JH. Inaccuracies in patient medical histories. Compr Ther 1999;25:258-264.
The authors reply: We agree with Drs. Morita and Nagai that a positive family history, especially for a common disease, is usually due to a mix of shared genetic and environmental factors. However, the relative contribution of these types of factors is almost always so complex that asking whether family members live together rarely yields information of much clinical usefulness. Although such inquiries are critical for research studies, their current value in individual medical care may not justify the additional time required on the part of both patient and provider to collect and assess the information.
Dr. Gammenthaler poses an important question: Is there evidence that, given a family history of cardiovascular disease or stroke, any specific interventions improve the outcome? We are unaware of studies that answer this precise question; indeed, for genomic medicine to reach its potential, we need rigorous outcome studies that move us from conjecture to certainty in this and related areas. However, while we await such research, it seems prudent to counsel particularly patients with family histories of cardiovascular disease or stroke to make the dietary, behavioral, and medical changes (such as cessation of tobacco use; control of weight and lipid levels through diet, medication, or both; and consideration of prophylactic aspirin therapy) that have proved to be of value in the general population.
Dr. Seltzer is correct in his assessment that family histories are often poor reconstructions of relatives' true medical histories. Indeed, one reason for making Web- and print-based family-history forms widely available is the belief that moving the preliminary information-gathering step in the family-history process from the clinic to the home can improve the quality of both the information derived and its evaluation and use.
Alan E. Guttmacher, M.D.
Francis S. Collins, M.D., Ph.D.
National Human Genome Research Institute
Bethesda, MD 20892
Richard H. Carmona, M.D., M.P.H.
Office of the Surgeon General
Rockville, MD 20857
Hiroyuki Morita, M.D., Ph.D.
Ryozo Nagai, M.D., Ph.D.
University of Tokyo
Tokyo 113-8655, Japan
hmrt-tky@umin.ac.jp
References
Guttmacher AE, Collins FS, Carmona RH. The family history -- more important than ever. N Engl J Med 2004;351:2333-2336.
U.S. Surgeon General's Family History Initiative. (Accessed January 28, 2005, at http://www.hhs.gov/familyhistory/.)
To the Editor: Are there studies that show conclusively that "interventions that are known to ameliorate such risk" (in reference to cardiovascular disease and stroke) actually decrease the risk or trump a strong family history of premature cardiovascular disease? I would like to think that behavioral, dietary, and pharmaceutical measures help in a patient whose only appreciable risk factor is genetic, but where is the evidence for this? I see a number of athletic, healthy younger patients in this category who are worried about genetic risk and would love to see evidence that interventions are worthwhile in overcoming what is essentially a purely genetic long-term risk. Until that happens, the amelioration mentioned is nothing more than conjecture.
Sammy A. Gammenthaler, M.D.
Park Ridge Cardiology
Hendersonville, NC 28792
To the Editor: Although I agree with the authors' emphasis on the importance of the family history, my own experience suggests that patients are relatively poor historians. In my practice, 63 percent of patients omitted information that was already in the office medical record when they gave their history to a surgicenter nurse, and 23 percent gave the nurse information that was not in the office record.1 When patients completed an identical medical-history form at an interval of three years, 66 percent had at least one significant omission.2
In a pilot study of 25 patients in my breast-surgery practice, I personally obtained a family pedigree for cancer and compared it with the written medical history completed by the patient immediately before the pedigree was obtained. The pedigree identified at least one additional family member with cancer in 84 percent of patients, and the omission was important in 43 percent for clinical management.
Recognizing that more sophisticated methods of information accrual will gradually be implemented, I would strongly suggest that, at present, face-to-face determination of the pedigree is extremely important.
Murray H. Seltzer, M.D.
St. Barnabas Medical Center
Livingston, NJ 07039
mhsmdpa2@aol.com
References
Seltzer MH, Koster DM. Medical history inaccuracies in patients undergoing breast biopsy. The Female Patient 1997;22:35-43.
Seltzer MH, McDermott JH. Inaccuracies in patient medical histories. Compr Ther 1999;25:258-264.
The authors reply: We agree with Drs. Morita and Nagai that a positive family history, especially for a common disease, is usually due to a mix of shared genetic and environmental factors. However, the relative contribution of these types of factors is almost always so complex that asking whether family members live together rarely yields information of much clinical usefulness. Although such inquiries are critical for research studies, their current value in individual medical care may not justify the additional time required on the part of both patient and provider to collect and assess the information.
Dr. Gammenthaler poses an important question: Is there evidence that, given a family history of cardiovascular disease or stroke, any specific interventions improve the outcome? We are unaware of studies that answer this precise question; indeed, for genomic medicine to reach its potential, we need rigorous outcome studies that move us from conjecture to certainty in this and related areas. However, while we await such research, it seems prudent to counsel particularly patients with family histories of cardiovascular disease or stroke to make the dietary, behavioral, and medical changes (such as cessation of tobacco use; control of weight and lipid levels through diet, medication, or both; and consideration of prophylactic aspirin therapy) that have proved to be of value in the general population.
Dr. Seltzer is correct in his assessment that family histories are often poor reconstructions of relatives' true medical histories. Indeed, one reason for making Web- and print-based family-history forms widely available is the belief that moving the preliminary information-gathering step in the family-history process from the clinic to the home can improve the quality of both the information derived and its evaluation and use.
Alan E. Guttmacher, M.D.
Francis S. Collins, M.D., Ph.D.
National Human Genome Research Institute
Bethesda, MD 20892
Richard H. Carmona, M.D., M.P.H.
Office of the Surgeon General
Rockville, MD 20857