Family history: A comprehensive genetic risk assessment method for the chronic conditions of adulthood
TL;DR: Family history reports of common, chronic disease are prevalent among the population at large, and collection and interpretation of comprehensive family history data is a feasible, initial method for risk stratification for many preventable, chronic conditions.
Abstract: Targeting individuals with increased risk for common, chronic disease can improve the efficiency and efficacy of preventive efforts by improving the predictability of screening tests and participant compliance. Individuals with the greatest risk for these disorders are those with a genetic susceptibility. The purpose of this study was to determine the feasibility of using a single, comprehensive family history as a method for stratifying risk for many preventable, common genetic disorders. Family histories obtained in a prenatal diagnostic clinic were reviewed regarding cardiovascular diseases, diabetes and several cancers; 42.5% of individuals reported a family history for at least one of the disorders under study. Familial coronary artery disease was most commonly reported (29% of participants), followed by noninsulin-dependent diabetes (14%). Qualitative characterization of disease susceptibility was also accomplished using family history data. For example, occurrence of different cancers within pedigrees was suggestive of familial cancer syndromes, and clustering of noninsulin-dependent diabetes and cardiovascular disease suggested an insulin resistance syndrome. Depending on the specific disease, 5 to 15% of at-risk individuals had a moderately increased risk (2 to 5 times the population risk), and approximately 1 to 10% had a high risk (absolute risks approaching 50%). Family history reports of common, chronic disease are prevalent among the population at large, and collection and interpretation of comprehensive family history data is a feasible, initial method for risk stratification for many preventable, chronic conditions. These findings may have important implications for disease prevention and management.
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TL;DR: The authors make the case for taking a good family history in the era of genomic medicine and provide a computer tool that can be downloaded and used by patients to help record this history.
Abstract: Although the family history is part of the basic workup that has been taught in medical schools for generations, it often does not get the attention it should. In this article, the authors make the case for taking a good family history in the era of genomic medicine and provide a computer tool that can be downloaded and used by patients to help record this history.
472 citations
TL;DR: It is suggested that a higher sodium-potassium ratio is associated with significantly increased risk of CVD and all-cause mortality, and higher sodium intake isassociated with increased total mortality in the general US population.
Abstract: confidenceinterval[CI],1.03-1.41per1000mg/d),whereas higher potassium intake was associated with lower mortality risk (HR, 0.80; 95% CI, 0.67-0.94 per 1000 mg/d). For sodium-potassium ratio, the adjusted HRs comparing thehighestquartilewiththelowestquartilewereHR,1.46 (95%CI,1.27-1.67)forall-causemortality;HR,1.46(95% CI, 1.11-1.92) for CVD mortality; and HR, 2.15 (95% CI, 1.48-3.12) for IHD mortality. These findings did not differsignificantlybysex,race/ethnicity,bodymassindex,hypertension status, education levels, or physical activity. Conclusion:Our findings suggest that a higher sodiumpotassium ratio is associated with significantly increased risk of CVD and all-cause mortality, and higher sodium intake is associated with increased total mortality in the general US population.
366 citations
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TL;DR: It may be years before DNAbased tests are routinely applied to predict the onset of common diseases, their natural history, and response to therapy.
353 citations
TL;DR: Patient-reported family cancer histories for first-degree relatives are accurate and valuable for breast and colon cancer risk assessments, and negative family history reports for ovarian and endometrial cancers are less useful, although the prevalence of these malignancies within families is low.
Abstract: Context: A family history of certain cancers is associated with an increased risk of developing cancer. Both cancer screening and genetic services referral decisions are often based on self-reported pedigree information. Objective: To determine the accuracy of self-reported family cancer history information. Data Sources English-language articles were retrieved by searching MEDLINE (1966-June 2004) using Medical Subject Headings family, genetic predisposition to disease, medical history taking, neoplasm, and reproducibility of results. Additional articles were identified through bibliography searches. Study Selection: Original studies in which investigators validated self-reported family history by reviewing the identified relatives’ medical records, death certificate, or cancer registry information were included, as well as studies that evaluated breast, colon, ovarian, endometrial, and prostate cancers. Data Extraction: Two of the 3 investigators independently reviewed and abstracted data for estimating the likelihood ratios (LRs) of self-reported family cancer history information. Only data from studies that evaluated both positive and negative family cancer histories were included within the analyses. A total of 14 studies met the search criteria and were included in the review. Data Synthesis: For patients without a personal history of cancer, the positive and negative LRs of a family history of the following cancers in a first-degree relative were 23.0 (95% confidence interval [CI], 6.4-81.0) and 0.25 (95% CI, 0.10-0.63) for colon cancer; 8.9 (95% CI, 5.4-15.0) and 0.20 (95% CI, 0.08-0.49) for breast cancer; 14.0 (95% CI, 2.2-83.4) and 0.68 (95% CI, 0.31-1.52) for endometrial cancer; 34.0 (95% CI, 5.7-202.0) and 0.51 (95% CI, 0.13-2.10) for ovarian cancer; and 12.3 (95% CI, 6.5-24.0) and 0.32 (95% CI, 0.18-0.55) for prostate cancer, respectively. Positive predictive values tended to be better in articles concerning first-degree relatives compared with second-degree relatives. Conclusions: Patient-reported family cancer histories for first-degree relatives are accurate and valuable for breast and colon cancer risk assessments. Negative family history reports for ovarian and endometrial cancers are less useful, although the prevalence of these malignancies within families is low.
323 citations
References
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01 Dec 1969TL;DR: In this paper, the authors introduce statistical analysis and introduce the concept of statistical analysis in statistical analysis, and propose a framework for statistical analysis for the analysis of statistical data in the literature.
Abstract: Introduction to statistical analysis , Introduction to statistical analysis , مرکز فناوری اطلاعات و اطلاع رسانی کشاورزی
5,255 citations
TL;DR: The association of low-density lipoprotein (LDL) subclass patterns with coronary heart disease was investigated in a case-control study of nonfatal myocardial infarction and multivariate logistic regression analyses showed that both high-density cholesterol and triglyceride levels contributed to the risk associated with the small, dense LDL subclass pattern.
Abstract: The association of low-density lipoprotein (LDL) subclass patterns with coronary heart disease was investigated in a case-control study of nonfatal myocardial infarction. Subclasses of LDL were analyzed by gradient gel electrophoresis of plasma samples from 109 cases and 121 controls. The LDL subclass pattern characterized by a preponderance of small, dense LDL particles was significantly associated with a threefold increased risk of myocardial infarction, independent of age, sex, and relative weight. Plasma levels of high-density lipoprotein cholesterol were decreased, and levels of triglyceride, very low—density lipoproteins, and intermediate-density lipoproteins were increased in subjects with this LDL subclass pattern. Multivariate logistic regression analyses showed that both high-density lipoprotein cholesterol and triglyceride levels contributed to the risk associated with the small, dense LDL subclass pattern. Thus, the metabolic trait responsible for this LDL subclass pattern results in a set of interrelated lipoprotein changes that lead to increased risk of coronary heart disease. (JAMA1988;260:1917-1921)
1,772 citations
TL;DR: The American Cancer Society's Department of Epidemiology and Statistics reports its 29th annual compilation of cancer incidence, survival and mortality data for the United States and around the world.
Abstract: The American Cancer Society's Department of Epidemiology and Statistics reports its 29th annual compilation of cancer incidence, survival and mortality data for the United States and around the world.
1,441 citations
TL;DR: There was a high prevalence of APC resistance among young persons with a history of venous thrombosis, and this resistance appeared to be inherited as an autosomal dominant trait.
Abstract: Background In three families with various forms of venous thrombosis, we observed an apparently inherited poor response to the anticoagulant activated protein C (APC). The condition was due to a deficiency in a previously unrecognized anticoagulant factor that functioned as a cofactor to activated protein C. Methods We conducted the present study to determine the prevalence of resistance to APC in patients with venous thrombosis. We compared 104 consecutive patients with venous thrombosis confirmed by objective tests with 130 controls. In addition, 211 members of 34 families of persons with resistance to APC were studied. The anticoagulant response to APC was measured with a modified version of the activated partial-thromboplastin time test; the results were expressed as APC ratios. Results Forty-five percent of patients had a family history of thrombosis. A significant (P<0.001) difference in APC ratios was observed between the controls and the patients with thrombosis. For 33 percent of patients, the AP...
1,077 citations
TL;DR: In this paper, the authors found that the type A behavior pattern was strongly related to the CHD incidence, and this association could not be explained by association of behavior pattern with any single predictive risk factor or with any combination of them.
Abstract: Clinical coronary heart disease (CHD) occurred in 257 subjects during eight to nine years of follow-up (average, 8 1/2 years) in a prospective study of 39- to 59-year-old employed men. Incidence of CHD was significantly associated with parental CHD history, reported diabetes, schooling, smoking habits, overt behavior pattern, blood pressure, and serum levels of cholesterol, triglyceride, and beta-lipoproteins. The type A behavior pattern was strongly related to the CHD incidence, and this association could not be explained by association of behavior pattern with any single predictive risk factor or with any combination of them.
1,065 citations