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Family History as a Tool for Public Health and
Preventive Medicineimage of tree with people, family records, and a dna strand


Family History Workshop
May 1-2, 2002


 

Background:

Family history of specific diseases reflects the consequences of genetic susceptibilities, shared environment, and common behaviors. Although family history has been shown to be a risk factor for many chronic diseases, including coronary heart disease, diabetes, cancer, osteoporosis, and asthma, the collection and interpretation of family history has rarely been applied in the preventive medicine setting to assess disease risk or to influence early detection and prevention strategies. A number of researchers have proposed methods for quantifying the risk associated with family history based on (1) the number of family members affected, (2) the degree of closeness of the relatives affected, and (3) the incidence of disease at younger ages than would be expected. This information could be used to stratify the population into average-risk (general population), moderate-risk, and high-risk groups for common diseases.

Whereas, targeting the general population with prevention efforts such as earlier or more frequent
screening, referral for a genetic consultation, genetic testing, or the use of medications would be cost-prohibitive, targeting higher-risk individuals with these same efforts could prove to be cost-effective.

Certainly, one could argue that current public health approaches, which promote healthy lifestyles and target the general population-at-large have not been entirely successful. Recent studies reveal only 25% of adults engage in recommended physical activity levels. If people could be convinced on a more personal level of their need to improve their health based on a family history of chronic disease (and almost all of us have some family history of disease), might they be more likely to engage in healthy behaviors?

Evaluation of family history: Before family history can be embraced as a public health screening strategy, the accuracy and reliability of the family history tools used to stratify disease risk should be assessed, and the effectiveness of the risk stratification on early detection and prevention efforts should be determined. The four components of an assessment would include analytic validity; clinical validity; clinical utility; and ethical, legal, and social issues that influence both validity and utility.

Analytic validity addresses how accurately and reliably the tool identifies disease among a person's relatives. The key elements of analytic validity include sensitivity, which is a measure of how well the family history tool identifies relatives who have the disease, and specificity, which is a measure of how well the tool identifies relatives who do not have the disease.

Clinical validity addresses how well family history of disease can be used to stratify disease risk and predict future disease in a person. The specific elements of clinical validity include sensitivity, specificity, and negative and positive predictive value.

Clinical utility is an assessment of the impact and usefulness of the family history tool for individuals, families, and society. Given a tool that has reasonable analytic and clinical validity, would the classification of individuals into risk groups improve the effectiveness of available early detection methods and interventions?

The ethical, legal, and social issues include an assessment of the psychological, social, and economic costs of using family history to stratify risk and to predict disease. Is there potential for discrimination or adverse effects on personal and family life?

Purpose of the workshop: The purpose of this workshop is twofold: (1) to discuss the concept of family history as a public health tool for risk stratification leading to improved disease prevention and (2) to begin developing a research agenda to evaluate the feasibility, validity, and utility of this approach. A major component of the research would be to evaluate simple tools for collecting family health history that can be used in both public health and preventive medicine settings.

Goals: Specific goals of this workshop include the following:

  1. To generate a list of diseases/conditions that could be included in a family history tool and to specify criteria for selecting these diseases
  2. To describe the specifications for a family history tool that would be useful in both public health and preventive medicine settings
  3. To identify gaps in knowledge about the analytic validity, clinical validity, and clinical utility of family history
  4. To describe the ethical, legal, and social implications of collecting and using family history information for disease prevention
  5. To describe the types of studies that are needed to fill in the knowledge gaps (e.g., case-control studies to measure attributable risk, focus groups to understand the potential of family history for changing behavior, etc.)
  6. To identify existing data and studies where analysis could be done
  7. To describe new studies and data collection that may be needed


Can Family History Be Used As A Tool For Public Health And Preventive Medicine?
Yoon, Paula et al. Genetics in Medicine 2002; 4(4):304-310

Research Priorities for Evaluating Family History in the Prevention of Common Chronic Diseases
Paula W. Yoon, Maren T. Scheuner and Muin J. Khoury

Family History Assessment: Strategies for Prevention of Cardiovascular Disease
Steven C. Hunt, Marta Gwinn and Ted D. Adams

Using Decision Analytic Methods to Assess the Utility of Family History Tools
Anupam Tyagi and Jill Morris

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