PEP 2003-021

CIO Name: Office of Genomics and Disease Prevention, NCEH - Collaborators: National Center for Chronic Disease Prevention and Health Promotion

Title: Evaluation of a Family History Tool for Health Promotion and Disease Prevention

Project Description: Although family history is a risk factor for most chronic diseases of public health significance, it is underutilized in the practice of preventive medicine and public health for assessing disease risk and influencing early detection and prevention strategies. In early 2002, the Office of Genomics and Disease Prevention (OGDP) began an initiative to develop a family history tool for identifying apparently healthy people who may be at increased risk for a number of common diseases. The major activities of this initiative have included: 1) reviews of the literature for approximately 25 diseases, 2) assessments of family history tools currently in use or under development, 3) a meeting of experts to provide input into the process, 4) development of criteria for determining which diseases to include in the tool, 5) development of a framework for evaluating a family history tool, and 6) assembly of a Family History Working Group to conduct the background research and develop a tool. More details on this initiative are available at http://www.cdc.gov/genomics/info/conference/famhist.htm

Family History Tool

The idea for using family history as a public health strategy is to develop a family history tool that is simple, easily applied and adaptable to different settings. The tool will be a self-administered questionnaire that can be administered either on paper or as an interactive computer program. Questionnaires can be completed in association with visits to health-care providers, in specific settings (e.g., clinics, schools, or drug stores), or at home. The computer-based questionnaire will include a software algorithm that interprets the data and provides both a brief synopsis of disease risk and suggestions for follow-up. Initially, the tool will initially include 5-10 diseases of public health importance such as heart disease, several cancers, and diabetes. Additional diseases can be added as they are validated. The goal is to keep it simple while gathering enough information to classify people into risk groups. One underlying scheme being considered has 3 risk groups: average (no known family history, equivalent to general population risk), moderate (1 or 2 relatives with disease), and high (2 or more relatives with disease or early onset of disease). The risk classification can be used to guide and inform prevention activities. For example, people at average risk would be encouraged to adhere to standard public health recommendations for maintaining good health. People at increased risk (high and moderate) could be given personalized prevention recommendations, such as more intensive lifestyle interventions or early detection strategies. People at high risk would be referred for a consultation with a geneticist or other appropriate specialist.

The Family History Working Group is expected to have a family history tool ready for evaluation by Spring 2003. A comprehensive evaluation of the tool has four elements, assessing analytic validity, clinical validity, clinical utility, and Ethical, Legal, and Social Implications (ELSI). Definitions for each element and lists of their components are provided in the attached table. The goal of this project is not to conduct a comprehensive evaluation of the tool that covers each element. Rather, this project will focus on one aspect of clinical utility: whether the use of family history information can be used to influence health behaviors.

Project Activities:

Applications should address the following: The evaluation will consist of a controlled clinical trial with two arms: the specific activities would be: Arm 1 (control group)

Pretest - administer a questionnaire that includes assessment of health status, risk factors (e.g., smoking, exercise, diet), preventive behaviors (e.g., screening, prophylactic medication), use of medical services, and risk perception. - administer the family history tool

Intervention - provide the participants with prevention information (standard public health messages) for each disease included in the tool

Posttest - repeat risk factor questionnaire at 6 months.

Arm 2 (intervention group)

Intervention - provide the participants with information about their level of risk (average, moderate, and high) - provide prevention information that is specific for their level of risk for each disease included in the tool with appropriate referral for medical and genetic evaluation for the high risk group

Posttest - repeat risk factor questionnaire at 6 months.

Approximately 3 research centers will be funded to conduct the study described above. Ideally, each center will conduct the study in a different setting, for example, in a community-based, managed care, or other clinical setting. Participants should be enrolled from a well-defined, healthy population that is between the ages of 35 and 60 and includes both genders and different racial/ethnic groups. Power calculations will be required to determine how many participants to include in each arm of the trial. It is expected that the 3 centers will work collaboratively with one another and the with the CDC-NIH family history working group to allow for standardized study protocols and pooling of results. Several aspects of the study may need to be piloted including participant recruitment, the risk factor questionnaire, the family history tool, and the intervention.

Preference will be given to applicants who are knowledgeable and experienced in the fields of evaluation methodology, epidemiological research, and behavioral research.

Total Years of Project Length: Three (3) years

Total funding (direct and indirect) availability by project year: Approximately $400,000 per center per year

Is this PEP Non-research or Research: Research

Framework for Evaluating the Family History Tool:

Elements	Definitions	Components
Analytic Validity	An indicator of how well a test or tool measures the property or characteristic (disease status among relatives) it is intended to measure	Analytical sensitivity Analytical specificity
Clinical Validity	A measurement of the accuracy with which a test or tool identifies or predicts a clinical condition	Clinical sensitivity Clinical specificity Positive predictive value Negative predictive value
Clinical Utility	Degree to which benefits are provided by positive and negative tests results (presence and absence of family history for disease)	Availability of effective interventions Health risks and benefits Economic assessment
Ethical, legal and social implications	Issues affecting data collection and interpretation that might negatively impact individuals, families, and society	Stigmatization Discrimination Psychological harm Risks to privacy and confidentiality