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Family-Centered Approaches to Understanding and Intervening in Coronary Heart Disease

Sharon L.R. Kardia, PhD, Stephen M. Modell, PhD, Patricia A. Peyser, PhD
University of Michigan, Ann Arbor

Family history represents the unique genomic, ecologic, and gene-environment interactions that affect the metabolic profile and life course of a family and its members. It is well known that a strong family history of coronary heart disease (CHD) is a significant predictor of an individual's risk of CHD even after adjusting for an individual's own established risk factors such as hypertension, smoking, and abnormal lipoprotein levels. The explanation for this familial disease aggregation is not well understood except for the general knowledge that genetic and environmental factors predisposing to CHD also aggregate in families. Given the multifactorial nature of an individual's risk, it can be argued that an individual's familial risk of disease may, in fact, be a better indicator of the many complex interactions among genetic and environmental factors that predispose to disease than can be captured by an individual's own risk factors. Issues of how to assess, quantitate, and apply family history information in clinical settings still need to be resolved. Some clinical risk indicators such as the NCEP III guidelines take into account family history while others, such as the Framingham Risk Score, do not. Moreover, several family-centered intervention studies have demonstrated the particular advantages of focusing on families rather than just individuals. Although there has been tremendous progress in primary prevention of CHD over the last 20 years, substantial advancements may still be achieved by focusing on the family as its own unit of inference and as a specific target for disease prevention.

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Family History of Colorectal Cancer

Robert Millikan, DVM, PhD, Tope Keku, PhD, University of North Carolina, Chapel Hill

Epidemiologic studies consistently observe an approximate two-fold increased risk of colorectal cancer in persons having one or more first-degree relatives with the disease (Potter, 1993). Studies of extended pedigrees in Utah (Cannon-Albright 1994) found that the excess familiality was 1.3 for colon cancer, approximately the same as for breast and the other common epithelial cancers. Twin studies (Lichenstein, 2000) suggest a heritability of 35% (95% CI 10%-48%) for colon cancer, within the range observed for breast and prostate cancer. Colon cancer often occurs in aggregation with other cancers, including ovarian cancer and breast cancer.

The aggregation of colon cancer in families may be due one or more causal explanations (segregation of major genes, aggregation of minor genes, aggregation of environmental factors, and interactions between minor genes and environmental factors), as well as non-causal explanations:(chance and bias).

Causal explanations.

Major genes. The identification of familial syndromes that include colon cancer was initially reported by Lynch and co-workers in the 1970s. Several genes have been identified that account for these syndromes: the list includes APC as locus of susceptibility for Familial Adenomatous Polyposis Coli, and a group of mismatch DNA repair genes (including hMSH2, hMLH1) as loci of susceptibility for Hereditary Non-Polyposis Coli. Taken together, highly penetrant mutations in these genes probably account for at most 15% of colon cancer cases in the general population. The contribution of more common, less-highly penetrant alleles in these and other major genes have not been fully investigated.

Minor genes. Common, low-penetrance polymorphisms in a variety of metabolism genes have been associated with increased risk of colon cancer, including N-actyltransferases 1 and 2 (NAT1, NAT2) and methylenetetrahydrofolate reductase (MTHFR). Polymorphisms in DNA repair genes and other loci are the subject of continued investigation. Many of these low penetrant alleles appear to exhibit greater than additive joint effects with diet and other environmental risk factors for colon cancer.

Non-causal explanations

Some of the aggregation of colon cancer in families could be due to chance or bias. Strict criteria for defining family history (e.g. Amsterdam criteria for HNPCC) have fairly high sensitivity and specificity for identifying high-risk kindreds. However, the informativeness of family history within population-based studies has not been well studied. Aitken (1995) reported that the sensitivity and specificity of reported family history of colon cancer are less than 100 percent, and misclassification is usually differential, but the degree of misclassification is "unlikely to inflate estimates sufficiently materially alter conclusions from case-control studies."

Research priorities:

Pharoah et al. (2002) recently showed that risk of breast cancer in women who do not carry mutations in BRCA1 or BRCA2 is mostly likely attributable to multiplicative interactions among minor genes. Such a polygenic model may also apply to colon cancer. Potentially, there may be groups of common polymorphisms that once identified, can differentiate high-risk from low-risk persons in the general population. Combinations of genotypes and traditional risk factors (such as diet) may have practical value for risk evaluation and designing interventions to prevent colon cancer in the general population. In the absence of comprehensive knowledge of these genes and environmental factors, family history may serve as a useful proxy for identifying high-risk individuals. However, studies that determine the extent to which family history of colon cancer can be attributed to currently identified genes and environmental factors are needed, as well as additional studies to examine the contribution of misclassification and other sources of bias.

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Can Family History of Type 2 Diabetes be used as a tool for Public Health?

Karen Edwards, PhD, University of Washington
RCM Wines, T. Harrison, LA Hindorff, H. Kim

Given the substantial morbidity and mortality associated with Type 2 diabetes it is important that public health seek ways to delay or prevent the onset of this condition. Risk factors for Type 2 diabetes are well established, including underlying genetic susceptibility. Despite this knowledge as well as significant advances in understanding the human genome, the prevalence of Type 2 diabetes continues to rise at an alarming rate. Because Type 2 diabetes is a complex condition and likely involves a combination of genetic and environmental factors, DNA testing for this condition is not yet warranted. However, because family history reflects underlying genetic susceptibility, in addition to other factors, this may be a useful public health tool for disease prevention. There are several important issues that need to be considered when evaluating family history as a public health tool. These issues, including the accuracy of recall by family members, analytic and clinical validity, clinical utility, ethical, legal and social issues, as well as potential unintended consequences will be outlined and discussed. Areas for future research based on current limitations in knowledge will be identified.

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History as a Potential Tool in Asthma Prevention

Wylie Burke, MD, PhD, Megan D. Fesinmeyer, Eleanor K. Reed
University of Washington

Epidemiological studies document parental or sibling history of asthma as a risk factor for asthma. However, the strength of the association and its correlation with specific clinical outcomes has varied. Differences in populations studied, methods for obtaining or defining a positive family history, and documentation of asthma or related clinical endpoints may account for some variation in the estimated effect of family history. In addition, little is known about interactions between family history and known environmental risk factors. Further understanding of the relationship between family history of asthma and asthma outcomes could be of value to public health efforts in asthma prevention. Family history represents a potential tool to identify children at risk, in order to provide targeted prevention efforts. In addition, selection of patients at increased risk via family history could improve the power of clinical and epidemiologic studies. However, the use of family history information for asthma prevention requires a careful evaluation of (1) family history in the context of other known risk factors, including genetic polymorphisms associated with asthma risk and environmental contributors to the disease; (2) the efficacy of intervention programs based on family history; and (3) the meaning applied to family history risk information by patients and health care providers. Family history of asthma is likely to be most useful as a prevention tool if it can be shown either to identify a subset of patients at high risk who would benefit from intensive prevention efforts or to motivate behavioral change to decrease environmental risk.

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Documenting the Family Health History: An Overview of Available Tools

Kristin Peterson Oehlke, MS, CGC, ATPM-CDA
Office of Genomics and Disease Prevention, CDC

Family health history information is collected and used by medical professionals, families and others for a variety of reasons such as medical risk assessment, preventive screening, adoption and other social situations, research and genealogy. Family history tools are available in multiple formats, each tailored to collect the type and complexity of information required. The available tools may provide a foundation for developing family history tools suitable for use in public health practice. This presentation will provide an overview of family history tools that are currently available, their relevant features and their intended applications.

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Family History as a Tool for Risk Assessment in Public Health Research and Practice and in Preventive Medicine

Hoda Anton-Culver, PhD, University of California, Irvine

Background: While family history information on cancer is collected in clinical and research settings and is used to infer risk of the disease in population-based, case-control, cohort, or family-based studies, little information is available on the accuracy of a proband's report. In this study we sought to validate the reporting of family history of cancer by cancer-affected probands in population-based and clinic-based family registries of breast, ovarian, and colorectal cancer.

Methods: To assess the accuracy of reported family history of cancer in the relatives of probands, we compared the family history from the personal interview of the proband to a gold standard that included pathology reports or self-reports from the relative or death certificates on deceased relatives. Our study included 670 breast cancer families, 123 ovarian cancer families, and 318 colorectal cancer families that accounted for 3222 relatives of probands. To account for the within-family correlations on the responses, we used a generalized estimating equation (GEE) approach.

Results: Estimates of sensitivity varied across cancer sites and by degree of relation to the proband. In particular, sensitivity of the proband's personal interview among first-degree relatives was 95.4% (95%CI 92-6-98.3) for female breast cancer, 83.3% (95%CI 72.8-93.8) for ovarian cancer, 89.7% (95%CI 85.4-94.0) for colorectal cancer and 79.3% (95%CI 70.0-88.6) for prostate cancer. Sensitivity of the proband's personal interview among second-degree relatives fell to 82.4% (95%CI 76-6-88.2) for female breast cancer, 44.1% (95%CI 30.9-57.3) for ovarian cancer, 57.8% (95%CI 49.5-66.0) for colorectal cancer and 66.7 (95%CI 55.1-78.2) for prostate cancer. In addition to the relative's degree of relationship to the proband and age at diagnosis of the proband, the best predictor of reporting accuracy was the mode of ascertainment of the proband, with clinic-based ascertained probands more accurate compared to population-based ascertained probands.

Conclusion: We found high reliability for most cancer sites among first-degree relatives and moderate for second- and third-degree relatives. Over-reporting of cancer was rare (2.4%). Race/ethnicity and sex of the proband did not influence the accuracy of reporting. However, degree of relationship to the proband, age at diagnosis of the proband, and source of ascertainment of probands were statistically significant predictors on accuracy of reporting.

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FamilyHistory Collection and Pedigree Analysis

Maren T. Scheuner, MD, MPH, Cedars-Sinai Medical Center

The systematic collection of family history information currently appears to be the most appropriate approach for identification of individuals with a genetic susceptibility to most common diseases. A positive family history is common among many chronic conditions and it is quantitatively significant (King et al., 1992). For many common diseases it is one of the greatest risk factors with relative risks ranging from 2 to 10 times those of the general population as seen in Table 1. Furthermore, for most common diseases, an even greater increase in relative risk is associated with an increasing number of affected relatives, as well as earlier ages of disease onset. Qualitative characterization of risk can also be accomplished by reviewing the family history. Characteristics of a high-risk family history include multifocal or bilateral disease, higher rates of disease recurrence, and the occurrence of related diagnoses. Recognition of these quantitative and qualitative familial disease risks has important implications for identifying family members at risk, arriving at the appropriate diagnosis, and for recommending appropriate genetic tests as well as individualized management and prevention for those individuals.

Accuracy of family history information has been investigated for coronary heart disease, diabetes, hypertension and several cancers. In assessing the reliability of reported family histories of myocardial infarction, Kee et al. (1993) performed a case-control study in which reported histories of first-degree relatives were validated using death certificates, physician records, and hospital records. In the 174 cases, the sensitivity, positive predictive value, and specificity of a reported history of infarction in first-degree relatives were 67.3%, 70.5%, and 96.5%, respectively. These values did not differ significantly from the corresponding figures for the 175 controls (68.5%, 73.8%, and 97.7%, respectively). In this study, only small differences were observed between odds ratios based on reported and verified data, indicating that neither misclassification nor recall bias had a substantial impact on the measurement of the effect of the family history. In a study assessing the accuracy of family history reports of diabetes, Hispanic and non-Hispanic white patients and controls were interviewed at clinic visits (Kahn et al, 1990). Verification of these reports was obtained by subsequently interviewing family members. There was complete agreement between the information given by the proband regarding diabetic status and answers given by the respective family members. The Family Heart Study also characterized the validity of reports of coronary artery disease, diabetes and hypertension by probands (Bensen et al., 1999). Using a relative's self report as a standard, the sensitivity of the proband's report for coronary artery disease was 85% and 81% for parents and siblings, respectively. The report for hypertension was 76% and 56% for these relatives, and for diabetes it was 87% and 72%, respectively. Most specificity values were above 90%.

Love and co-workers (1985) have studied the accuracy of patient reports of a family history of cancer. Verification of cancer histories was done by reviewing pathology and operative reports, hospital admission and discharge summaries, death certificates, and autopsy reports. Verification of negative histories was not performed. The accuracy of cancer site identification by the participant was 83.7% in first degree, 71.3% in second degree, and 71% in third degree relatives. Participants were correct in 91% and 89% of the cases for all relatives in which they reported breast and colon as the primary sites, respectively. For first-degree relatives, 94% of reported breast cancer cases and 93% of colon cancer cases were confirmed. For pancreas, lung, and liver as the primary cancer site, the accuracy rates of cancer reports were less at 75%, 60%, and 5%, respectively.

Overall, these studies suggest that a positive family history report can generally be used with a high degree of confidence for the identification of individuals who may be at increased risk for developing disease. The lower sensitivity values do indicate some under-reporting of disease in relatives; thus, a negative report should not be used as an indicator of a minimum or decreased disease risk (below the general population risk).

Estimates for the frequency of family history reports among cases with several common diseases are available in the literature (Table 1). However, knowledge of the prevalence of family history reports of common diseases among individuals within the population at large, is necessary for shaping policy regarding genetic risk assessment for these conditions. The population frequency of average, moderate, or high risk family history reports for heart disease, stroke, hypertension, diabetes, and colon, breast, ovarian, endometrial and prostate cancers have been determined by reviewing pedigrees obtained by genetic counselors in a prenatal diagnosis clinic (Scheuner et al., 1997a). The population consisted of 400 "healthy,” employed, middle-class people age 18 to 66 years. None of the consultants were seeking counseling because of a family history of one the chronic disorders under study. Forty-three percent (170) reported a family history of at least one of the selected common disorders (130 individuals were at risk for one disorder, 33 were at risk for two, and 7 were at risk for 3). Depending on the specific disorder, most consultands had an average risk (general population risk) for any given disorder, approximately 5 to 15% were at moderate risk (2 to 3 times the population risk), and 1 to 10% were at high risk (risks approaching those associated with Mendelian disorders). Family history of cardiovascular diseases, including coronary artery disease, stroke and syndrome X, were most common and reported by 34% of consultands. Family history of cancer was reported by 8% of the consultands and several individuals had histories suggestive of dominant cancer conditions.

The genetic evaluation or risk assessment for common diseases typically begins with pedigree analysis. The pedigree structure is created and information for each family member is collected. Demographic information is documented including each relative's name, current age or age at death, locale, and ethnicity. Medical history is documented for each family member including age at diagnosis and known interventions or procedures. Information is also collected regarding important risk factors for a disease, such as smoking for heart disease or emphysema. Validation of the medical history of each family member is performed by reviewing records when possible.

After collecting the family history a qualitative assessment of disease risk can be performed which might include a differential diagnosis for identified familial traits. For example, when considering an inherited form of breast cancer there are at least six different genetic syndromes that can feature breast cancer, including site-specific breast cancer, breast-ovary syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome and HNPCC (Hoskins et al., 1995). The types of cancers and other conditions reported in the family distinguish each of these syndromes. Mutations in different genes may underlie the genetic susceptibility in these syndromes and genetic testing can help to confirm a suspected diagnosis. Thus, estimation of the probability that genetic testing will provide information that will change the risk assessment and management and prevention of disease should also be discussed as part of the risk assessment and diagnosis process.

Quantitative risk assessment can also be performed for specific conditions relating to the family history using mathematical models or published estimates (Gail et al., 1989; Amos et al., 1992; Claus et al., 1991; Claus et al., 1993; Benichou, 1993; Schildkraut et al., 1989). For example, in the case of breast cancer a woman's empiric risk based on the family history of breast and/or ovarian cancer can be provided and she can contrast this to the population risk and the risk that would be associated with an inherited cancer susceptibility mutation. However, most estimates using these models and algorithms have limitations and they should not be the only means for risk assessment.

Thus, accurate genetic diagnosis and risk assessment requires the expertise of professionals who are familiar with the characteristics of genetic susceptibilities to common disease, the differential diagnosis of a suspected disease susceptibility, the resources available for determining disease risk based on a family history, as well as the likelihood that genetic testing may be useful in risk assessment, diagnosis and planning management and prevention.

Participation in effective early detection and prevention strategies should have significant benefit for individuals with a genetic susceptibility to common diseases. Under-utilization of these services by genetically susceptible individuals has been documented (Scheuner et al., 1997b). A genetic risk assessment survey of 176 managed care members found that the only significant predictor of cholesterol screening was advanced age (p=0.05). Gender, ethnicity, time since last visit to the doctor, and family history of cardiovascular disease (heart disease, stroke, and carotid, aortic or peripheral vascular disease), diabetes, or a cholesterol abnormality were not predictive of who was likely to have had cholesterol checked. Similarly, participation in mammography, sigmoidoscopy, fecal occult blood testing and serum prostate-specific antigen testing was associated with older age rather than a cancer family history. This included individuals from hereditary colon cancer and high-risk breast and ovarian cancer pedigrees. Among the respondents to the mailed genetic risk assessment survey, 53 charts from 15 primary care physicians selected randomly were reviewed for family history. This included data collected from 223 patient visits (4.2 visits per patient) that occurred over the 5-year period prior to the mailing of the survey. Among the charts reviewed, 39 belonged to subjects who gave self-reports of a family history of at least one common disease; the physician documented this family history in only 36%. The number of first-degree relatives that were reported by patients as having one of the conditions under study was 115, compared to only 23 documented by the physician. The corresponding number of self-reported affected second-degree relatives was 213, and the physicians documented only 4. The type of disease did not influence the family history documentation by the physician; they were dismal across all disease categories.

Failure of the primary care physician to collect the appropriate family history data appears to be an important factor that precluded adequate genetic risk assessment and access to appropriate preventive services for subjects with a genetic susceptibility to many common, chronic conditions. Acheson et al. (2000) have found that family practice physicians discuss family history about half of the time during new patient visits, and only 22% of the time during established patient visits. This included discussion of “family issues” that might represent a broad range of topics in addition to medical issues. The quality of information collected was likely limited (although this was not determined) since the average duration of family history discussions was less than 2.5 minutes. Only 11% of patients' records included a family tree. This was probably due to the limited time available for a patient visit, 10 minutes. It is estimated that construction of a pedigree in the family practice setting obtained via semi-structured interview takes 15 to 20 minutes.

In a survey of 339 primary care providers in the United Kingdom the majority felt a need to provide genetic services (Suchard et al., 1999). However, only 29% felt sufficiently prepared to take family histories and draw pedigrees and only 15% felt prepared to counsel patients about genetic test results. Almost two-thirds would participate in training and education regarding genetics and would participate in providing genetic services, yet not all were willing to provide these services. For practitioners who do feel comfortable with transmitting genetic information, the increased time demands required to research the family history and provide genetic counseling (Surh et al., 1995) may act as disincentives to routinely offering adequate genetic risk assessment.

Thus, rather than providing comprehensive genetic services for patients with complex genetics service needs, the role of the primary care provider should include: 1) identification of patients who may benefit from genetic services, 2) provision of basic genetic information to facilitate the referral process, 3) recognition of the special psychosocial issues for a family with a genetic condition, and 4) coordination of care and monitoring of health (Hayflick et al., 1998). Primary care providers' lack of general knowledge in genetics (Hoffman et al., 1993) may preclude appropriate referrals to genetic professionals for genetic risk assessment, counseling, and when appropriate, DNA testing (Hayflick et al., 1998). This is compounded by incentive arrangements that reward "gate-keeper" physicians to limit patient access to specialty referrals and treatments (Swartz and Brennan, 1996). Unfortunately, there are a limited number of professionals who are trained in genetics (Rowley et al., 1995), and this may be the most significant factor in related to provision of clinical genetic services for common diseases. Clinicians may also be reluctant to pursue genetic risk assessment for their patients since evidence regarding the efficacy and utility of using genetic information in disease management and prevention is limited. This lack of evidence should not, however, deter clinicians from utilizing genetic information regarding common disease, as it clearly has value in providing risk information and in many instances can guide decision making for disease management and prevention.

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Prevalence of familial disease

Characteristics of "high-risk" families

Risk associated with family history


Coronary artery disease (CAD)

In families of male cases with myocardial infarction (MI )before age 45, 38% had first-degree relatives with premature CAD (before age 60). In families of male patients who had undergone coronary artery bypass graft surgery (CABG), 68% had at least one first-degree relative with CAD and 18% had three or more affected first-degree relatives. In female patients with CABG, 82% had at least one first-degree relative with CAD and 34% had three or more.

Early onset CAD (under 55 in males and 65 in females); multiple affected family members, especially females; multi-vessel disease; refractory to conventional risk factor modification; multiple family members with coronary artery disease, diabetes, hypertension, and lipid abnormalities.

Males with a parental history of MI or death from CAD have a 2-fold increase in risk of CAD even after adjustment for traditional risk factors. Females with a parental history of MI at or before age 60 have a 2.4-fold increased risk of non-fatal MI and 4.9-fold increased risk for fatal MI even after adjustment for traditional risk factors. Risk to first-degree relatives increased 5-fold if proband is male and less than age 60; 7-fold if proband is female and less than age 70. Heritability estimates for CAD before age 50 are estimated to be 90-100% and for later onset disease, 15-30%.

Scholtz et al., 1975; Colditz et al., 1991; Colditz et al., 1986;

Thomas and Cohen, 1955; Rose, 1964; Slack and Evans, 1966; Rissanen, 1979; Scheuner 2001.


Thirty-eight percent to 47% of patients with stroke have first-degree relatives with history of stroke; 48-73% have first-degree relatives with history of ischemic heart disease

Early age of onset, multiple family members with stroke and/or ischemic heart disease. Single gene disorders associated with ateriovenous malformation and cavernous angiomas; intracranial aneurysms (e.g., polycystic kidney disease, Ehleres-Danlos type IV, Marfan syndrome); hereditary forms of amyloid angiopathy or hypertension; and hereditary coagulopathies.

2-fold increase associated with first-degree relative affected with stroke. 2 to 3-fold increase associated with first-degree relative affected with ischemic heart disease.

Graffagnino et al., 1994; Kiely et al., 1993; Spriggs et al., 1990; Alberts, 1990.

Type 2 Diabetes

In Hispanic families with type 2 diabetes, 29% have affected first-degree relatives; 13% have affected second-degree relatives; 11% have affected third-degree relatives.

Early onset of diabetes (between ages 25 and 40); multiple family members with diabetes; aggregation of other characteristics of insulin resistance including hypertension, dyslipidemia, premature atherosclerosis.

In Hispanic families, 2-fold increase associated with affected first-degree relatives, 1.3-fold increase with affected second-degree relatives. In Caucasian families, 3-fold increase associated with affected first-degree relatives.

Mitchell et al., 1994; Keen and Track, 1968; Köbberling and Tattersall, 1982; Walker, 1999.


Forty-seven percent of female and 33% of males with osteoporosis have a family history.

No significant phenotypic differences between familial and non-familial cases including age at diagnosis, gender, osteoporosis-related fracture, and bone mineral density scores.

Maternal history of hip fracture associated with 2-fold increase in risk of hip fracture. 33% of mothers and 6% of fathers of cases are affected with osteoporosis. Heritability of peak bone mass at lumbar spine, 90% and at femoral neck, 70%.

Henderson et al., 2000; Evans et al., 1998; Pocock et al., 1987; Krall and Dawson-Hughes, 1993.

Breast Cancer

Five to 20% of women with breast cancer report a family history of breast cancer, of these about half are consistent with a high familial risk.

Early onset breast cancer (typically before age 50), multiple family members with breast cancer, bilateral and/or multifocal disease, and male breast cancer are features of an inherited susceptibility due to a highly penetrant single gene mutation. The occurrence of other cancers in a breast cancer patient or her family members might suggest a known hereditary breast cancer syndrome such as thyroid cancer and Cowden syndrome, ovarian cancer and hereditary breast/ovarian cancer, and sarcoma, adrenal tumors, and CNS malignancies and Li-Fraumeni syndrome.

The risk of breast cancer in a woman with a first-degree relative with breast cancer is increased about 2.5-fold. Women with only a second-degree relative affected with breast cancer have a 1.8-fold increase in breast cancer risk, and women whose nearest relative is a third-degree relative have a 1.35-fold increase compared to women without a family history. Women with a first-degree relative affected with bilateral breast cancer have about a 3-fold increase in breast cancer risk, and women with an affected first-degree male relative have a 2-fold increase in breast cancer risk. A family history of prostate, endometrial and ovarian cancer also increase the risk of breast cancer in first-degree relatives. The relative risk of breast cancer for Ashkenazi Jewish women with a first degree relative with breast cancer is 3.8 compared to non-Jewish women with a risk of about 1.7.

Slattery and Kerber, 1993; Hoskins et al., 1995; Anderson and Badzioch, 1993; Schildkraut et al., 1989; Claus et al., 1993; Scheuner et al., 1997; Egan et al., 1996.

Ovarian Cancer

Approximately 5% of ovarian cancer cases report a family history and about 20% of these familial cases are consistent with a high familial risk.

Ovarian cancer in at least two close family members may be consistent with an inherited susceptibility due to a highly penetrant single gene mutation. High risk/hereditary ovarian cancer may be classified as site-specific ovarian cancer, breast-ovary syndrome or hereditary nonpolyposis colon cancer, each accounting for approximately one-third of high-risk familial cases. Additional rare single gene disorders which feature ovarian cancers include Gorlin syndrome (ovarian fibrosarcomas), Peutz-Jeghers syndrome and Ollier's disease (sex chord tumors).

The relative risk of ovarian and breast cancer for first-degree relatives of cases with ovarian cancer is increased 2.8 and 1.6 fold, respectively. Among first-degree relatives of breast cancer cases the risk for ovarian cancer is increased 1.7-fold. The risk for ovarian cancer for Jewish women with an affected first-degree relative is increased 8.8-fold and the risk for a non-Jewish woman with an affected first-degree relative is increased 3-fold.

Greggi et al. 1990; Houlston et al. 1992; Grover et al. 1973; Scheuner et al., 1997; Schildkraut et al., 1989; Amos and Struewing, 1993; Steinberg et al., 1998.

Endometrial Cancer

An estimated 13% of endometrial cancer cases have a family history of endometrial cancer and/or other cancers. About 50% of these familial cases have histories consistent with hereditary non-polyposis colorectal cancer syndrome (HNPCC), and about 12.5% of these familial cases have histories consistent with a high-risk, site-specific hereditary syndrome.

Two or more close relatives with endometrial cancer, especially at an early age (prior to menopause). Many high-risk families may have HNPCC featuring early onset colorectal cancer, and cancer of the stomach, bile duct, uroepithelium, and ovaries.

A family history of endometrial cancer in a first-degree relative is associated with about a 3-fold increase in endometrial cancer risk. There is a 1.9-fold increase in risk for colorectal cancer among cases.

Sandles, et al. 1992; Boltenberg, et al. 1990; Gruber and Thompson, 1996;

Prostate Cancer

Approximately 15% of prostate cancer is familial and about 33% of these familial cases are consistent with a high familial risk. Among 691 families ascertained through a single prostate cancer case, 14% had two affected first-degree relatives and 2% had 3 or more affected first-degree relatives.

Prostate cancer in two or more close relatives especially with early age of onset. Prostate cancer is within the spectrum of cancers associated with BRCA mutations, which feature increased risk for cancers of the breast, ovaries, colon, pancreas, stomach, bile duct, and melanoma.

Men with an affected father or brother have a 2-fold increase in prostate cancer risk. Men with two or three affected first-degree relatives had a 5 and 11-fold increase in risk, respectively.

Spitz et al., 1991; Steinberg et al., 1990; Carter et a., 1992

Colon Cancer

Approximately 20 to 25% of colorectal cancer cases report a family history of colorectal cancer. About 0.5% of familial cases are high-risk, polyposis syndromes. About 25 to 50% of familial cases are consistent with a high-risk, hereditary nonpolyposis colorectal cancer (HNPCC) syndrome.

Early onset colon cancer and increased risk for synchronous and metachronous disease, family history of colon cancer and other syndrome associated malignancies. These syndromes may be classified according to the polyposis type: adenomatous, hamartomatous, and juvenile. The cancer spectrum in HNPCC includes colorectal, endometrial, gastric, biliary tract, ovarian, and uroepithelial carcinoma. Some families may feature breast cancer; others may have sebaceous adenomas and keratoacanthoma (Muir-Torre syndrome). Turcot syndrome features colorectal cancers associated with adenomatous polyposis or non-polyposis and central nervous system tumors.

There is a 3.2 to 3.5-fold increase in incidence and mortality from colorectal cancer in first-degree relatives of colon cancer cases.

Ponz de Leon et al. 1992; Eddy et al. 1987; Mecklin 1987; Stephenson et al. 1991; Woolf 1958; Macklin 1960, Lovett, 1976

Do Americans Know Their Family History of Asthma and Heart Disease?

Joelyn Tonkin, MSPH, Paula Yoon, ScD, MPH, Muin Khoury, MD, PhD,
Office of Genomics and Disease Prevention, CDC

It has been proposed that family history could be used as a public health tool for risk stratification and screening. It is unclear, however, what proportion of the population is likely to know their family history. This study uses data from a national health survey to determine the proportion of people who can provide a family history of first-degree relatives for asthma and heart disease and examines the characteristics of people who do not know their family history for first-degree relatives. Healthstyles 2001, a population-based survey, included four family history questions. Participants were asked if their biological mother, father, or siblings had ever had asthma or heart disease. Results showed that 13.7% and 17.0% of respondents to this survey could not provide a complete family history of first-degree relatives for asthma and heart disease respectively. Logistic regression found that significant predictors for reporting an incomplete family history of asthma were age 65 and over (OR=1.8), income <$25,000 (OR=1.9) and $25,000-$49,999 (OR=1.4), Black (OR=2.2) and Hispanic (OR=1.5) race, governmental or no insurance (OR=1.4), and having asthma (OR=2.1). Significant predictors for reporting an incomplete FH of heart disease were age 65 and older (OR=1.7), income <$25,000 (OR=1.8) and $25,000-$49,999 (OR=1.3), Black (OR=1.6) and Other (OR=2.2) race, governmental or no insurance (OR=1.3), having asthma (OR=1.9), and not understanding health issues (OR=1.3). Some people who reported an incomplete family history of first-degree relatives, still provided enough information that could be used to stratify them into risk categories. Of the 511 people who had incomplete family histories for asthma, 17.0% could be classified as having at least a moderate family history and 6.5% could be classified as having a strong family history. Of the 630 people who had incomplete family histories heart disease, 30.4% could be classified as having at least a moderate family history and 15.3% could be classified as having a strong family history. In conclusion, a majority of the population can report a complete family history at least for first-degree relatives. Of those that cannot, even partial family history information may be useful for identifying people who are at higher risk than the population at large.

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Family History of Cancer and Cancer Screening in the General Population

Ingrid Hall, PhD, MPH, National Center for Chronic Disease Prevention and Health Promotion, CDC
Steven Coughlin, PhD, Louise Wideroff, PhD, MSPH, Andrew Freedman, PhD

We investigated the effect of family history of cancer on likelihood of receiving cancer-screening tests. We analyzed nationally representative data from the year 2000 National Health Interview Survey Cancer Control Topical Module (CCTM) to evaluate whether individuals with a self-reported family history of either breast, cervical colorectal, or prostate cancers were more likely than those without a family history to undergo mammography, clinical breast exam, Pap smear, fecal occult blood test, colonoscopy/flexible sigmoidoscopy, or prostate specific antigen testing.

Preliminary results show a statistically significant difference in receipt of all cancer screening tests among those with a positive family history. In addition, among those screened, individuals with a positive family history were more likely to adhere to recommended screening guidelines and to receive screening tests within recommended intervals.

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Population Versus High-Risk Prevention Strategies: Do We Need to Choose?

Steven C. Hunt, PhD, University of Utah

Family history is highly and independently predictive of future disease for most common diseases. While any individual risk factor may be predictive of disease, family history represents the combined influence of all risk factors, genetic, environmental, and behavioral, on disease expression in multiple family members. Families with a positive family history, regardless of what the risk factors are, have one thing in common: they express the disease. Assessing family history and determining shared (or unshared) risk factors leading to disease in each family is family-based medicine at its best.

The majority of cardiovascular disease occurs in a small proportion of families with a positive family history of cardiovascular disease. This means that effective identification of this relatively small subset of the population and targeted application of family-based intervention methods to these families could have a tremendous impact on reducing morbidity and mortality.

Studies of disease risk and risk factor distributions have suggested that the majority of events occur, not at the extremes of the distribution, but in the upper normal/borderline high range of the risk factor. For this reason, it has been questioned whether a high-risk approach using individual risk factors is cost effective compared to a population approach to risk factor reduction. However, the portion of the risk factor distribution from which most of the events arise is the main subgroup of people targeted by assessing positive family histories. Therefore, picking extremes based upon family history targets the portion of the population that has the most events and is not the same as targeting extremes of a single risk factor distribution.

Family history assessment identifies family members who are already affected who could benefit from secondary prevention and unaffected family members at risk who could benefit from primary prevention. In addition, even those families with an average risk would benefit by being reminded of current population recommendations for risk factor screening and control that should accompany a family history report.

Of course, collecting family history is not an easy task and can be costly. We have developed methods over the years that have significantly reduced the cost of assessing family history in large populations and have recently begun work on making Internet versions of these methods available. A validated and user-friendly Internet family history collection tool would be nearly cost-free and could be used by schools, health departments, in clinical settings, and by the general public. To accomplish this, some type of consensus document should be created concerning standard data that should be collected on each family and a standard definition of a positive family history should be adopted that has the greatest validity. Similar to the National Cholesterol Education Program guidelines or the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure guidelines, which have evolved over time but provide the best current advice, guidelines on family history could help with the training of the health community, standardization of recommendations, and effective intervention development. These developments would lead to effective utilization of family history in the population to provide important health information to all families and to target high-risk families for special attention. Those individuals at highest risk usually cannot reduce their risk to appropriate levels without qualified help.

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Association Between Family History of Colorectal Cancer and Preventive Health Behaviors in Women - United States, 1997

Jill M. Morris, PhD, Amanda Brown, PhD, Marta Gwinn, MD, MPH, Muin Khoury, MD, PhD, Office of Genomics and Disease Prevention, CDC

Background: Colorectal cancer (CRC) is the third leading cause of cancer-related mortality in the U.S., claiming over 56,000 lives annually. Although family history (FHx) is the second strongest risk factor for CRC, it is not known whether having a FHx of CRC motivates people to change lifestyle and screening behaviors to reduce their risk.

Methods: We conducted a cross-sectional analysis of data from 64,473 cancer-free women interviewed in 1997 for the American Cancer Society's Cancer Prevention Study II. FHx of CRC was categorized as strong (2 or more first-degree relatives with CRC, or one aged <50) or moderate (only 1 first-degree relative with CRC, not aged <50). We used multinomial logistic regression to estimate adjusted odds ratios (OR) for associations between FHx and screening/lifestyle factors. Regression models included age, education, type of health care coverage, and FHx of other cancers.

Results: The median age of participants was 67; 98% were white. Overall, 13.5% of respondents reported a FHx of CRC: 2.1% had a strong and 11.3% had a moderate FHx. Compared with women who had no FHx of CRC, those with a strong FHx were more likely to have undergone recent endoscopy (OR=2.3, 95% Confidence Interval [CI]=2.1-2.6), as were those with a moderate FHx (OR=1.8, CI=1.7-1.9). Women in both groups were slightly more likely to be nonsmokers, regular aspirin users, and to have had a rectal exam.

Conclusions: Awareness of a FHx of CRC may motivate people to seek endoscopy or engage in other preventive behaviors. Promoting awareness of FHx and incorporating FHx into prevention messages may be promising tools for increasing CRC screening and other preventive behaviors.

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Using Decision Analytic Method to Assess the Utility of Family History for Public Health and Preventive Medicine

Anupam Tyagi, PhD, National Center for Chronic Disease Prevention and Health Promotion

In addition to genetic testing for common diseases, family history may be a useful tool for identifying people at increased risk of disease and developing targeted interventions for individuals at higher-than-average risk . This presentation addresses the issue of how to examine the utility of a family history tool for public health and preventive medicine. We propose the use of a decision analytic framework for the assessment of a family history tool, and outline the major elements of a decision-analytic approach including analytic perspective, costs, outcome measurements, and data needed to assess the value of a family history tool. We also describe the need for effective communication, implications of measurement error and imperfect information, and the use of sensitivity analysis to address uncertainty in parameter values of a decision model. Two examples are used to illustrate the framework. Sensitivity analysis is used to identify information gaps and research challenges that need to be addressed to make family history information a useful public health tool.

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Can Knowledge of Family History Affect Behavior Change: Using Family History of Breast Cancer as an Example

Janet Audrain, PhD, University of Pennsylvania

Public health approaches to disease prevention have had a limited impact on promoting health behavior change. More intense interventions aimed at the general population may not be feasible and would likely be cost prohibitive. Approaches that are targeted to those with an elevated risk for developing disease may be more effective. Family history of disease could be used as a public health tool for risk stratification leading to improved disease prevention. Interventions directed toward those with a family history rather than the general population may result in cost-effective approaches aimed at subpopulations most in need. That is, if family history can aid in risk stratification, improve early detection and disease prevention, and influence health-promoting behaviors (e.g., routine screening, healthy diet, physical activity, weight maintenance), then family history could be used to target individuals at elevated risk who could benefit the most from interventions.

This presentation explores using family history of breast cancer as a public health tool for risk stratification and improved disease prevention. Specifically, the presentation will explore whether knowledge of family history can affect behavior change using family history of breast cancer as an example. Breast cancer is the most common neoplasm among women in the United States and second only to lung cancer in deaths attributable to cancer. It is estimated that in year 2002, over 200,000 women will be diagnosed with breast cancer and almost 40,000 will die of this disease. Having a family history of breast cancer in a first-degree relative is one of the most important risk factors for this disease. Women who have an affected first-degree relative have a 2- to 10-fold increased risk of developing breast cancer. This group may comprise an important target for family history risk education. Focusing efforts on women with a family history of breast cancer may improve early detection and breast cancer prevention, and influence health-promoting behaviors (e.g., cancer screening, physical activity, weight maintenance).

Through a review of the available research on women at moderate risk for developing breast cancer due to family history, the presentation will address important questions in considering family history as a public health tool and whether knowledge of family history impacts behavior change. For example, are women with a family history of breast cancer aware of their elevated risk compared to women without a family history? What are the characteristics of the women who lack this knowledge? Would women at increased risk due to family history be more accepting of recommendations about lifestyle changes and participation in heightened early detection and prevention strategies? Who is more likely to participate in breast cancer risk education programs? Does breast cancer risk counseling improve knowledge and comprehension of risk and does this translate into or motivate behavior change? Who is most likely to benefit? Are there behavioral and psychological benefits to receiving this knowledge? Are their behavioral and psychological characteristics that either promote or deter women who are aware of their elevated risk to engage in breast health promoting behaviors? Is knowledge of increased risk due to family history sufficient to change behavior or do skills training need to be part of the intervention. It is concluded that targeting interventions to individuals who have a family history of disease may be an effective strategy for improving health-promoting behaviors, although interventions that only focus on increasing knowledge of risk associated with family history may not be sufficient for long-term behavior change. Interventions may need to include behavior change skills training (e.g., goal setting, self-monitoring) and an assessment and management of barriers to behavior change.

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