The issue: Family history has been measured as a risk factor for chronic diseases in numerous studies but it is difficult to compare risk estimates because of the variation in how family history was assessed. Earlier studies measured family history as a dichotomous variable – yes or no. More recently the predictive value of knowing which relatives were affected and at what age is gaining attention. Still, although researchers and practitioners would like to collect more detailed information on family history, few validated questions or disease-specific modules exist.

Purpose of the session: To initiate a working group that would begin a process for developing standard disease-specific family history questions and modules for national, state, and community surveys. The specific task for the current breakout session is to define the problem, brainstorm about possible solutions or processes to begin to address the problem, and identify key players and organizations that should be part of an ongoing workgroup.

Notes from breakout session: The discussion began with a review of the importance of collecting family history information in population-based surveys. Participants agreed that assessing family history risk is not only important for conducting etiologic research, but also critical for establishing prevalence of disease-specific family history risk in the general population, as well as identification of high-risk groups based on family history for delivering more effective interventions. Additionally, the importance of using standard questions for the purpose of comparison across different surveys and studies was acknowledged. However, the group expressed concerns regarding resource limitations and competing research needs that may reduce the number of family history questions for inclusion or eliminate assessing family history altogether from smaller studies, and possibly large surveys depending on funding.

Several participants expressed ambiguity regarding the type and amount of information necessary to assess family history risk, and indicated a strong need to have a centralized (preferably web-based) resource for accessing guidelines and other information related to family history risk assessment. In particular, participants requested inclusion of family history questions that are currently (or were previously) used in national and state-based surveys. The group was also interested in the development of off-the-shelf questions and disease-specific family history modules designed to maximize risk assessment while minimizing costs, time, and respondent burden. Several people suggested modifying standard questions to reflect cultural and ethnic differences.

There was general consensus regarding organization of a working group to initiate development of various family history-based questions and modules to accommodate different survey designs (telephone, in-person, self-administered) and outcomes of interest (disease-specific modules). A tiered approach to development of modules was suggested for use according to research goals (i.e., amount of information required to meet study objectives may vary) and type of questionnaire (survey, longitudinal study, etc.). Participants agreed that the working group must include individuals representing a variety of disciplines including: geneticists, clinicians in private practice, survey epidemiologists, ethicists, attorneys, and health informatics experts. Several participants volunteered to serve on the working group.