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Learning Objective #1: Identify key psychosocial elements of knowing about a genetic risk for an adult onset disease.

Learning Objective #2: Describe how the mid-range theory of genetic vulnerability was developed.

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Purpose: Describe development of a mid-range theory of genetic vulnerability. This grounded theory was developed from a longitudinal study of individuals identified with a mutation that significantly increases their risk of developing breast and/or ovarian cancer. Background: Presymptomatic genetic testing has been available for two decades. However, there are few longitudinal studies aimed at increasing our understanding of how individuals live with this knowledge. Individuals at risk hereditary breast and ovarian cancer (HBOC) were re-interviewed at approximately 2.5-3 years from the time of the initial interview. Questions about their health, health care choices, consequences of choices previously made and family interaction were asked. Methods: This longitudinal study used grounded theory to plan, guide and analyze in-depth interviews with 21 individuals representing a 72% return participation after approximately 2.5-3 year interval. The final sample in this phase of the study included 14 participants who were at risk for HBOC and seven who were at risk for Huntington disease which provided a comparison group. Results: The mid-range grounded theory developed is called: “The theory of genetic vulnerability” and is composed of five concepts: (a) Experiencing the family disease, (b) Testing for a mutation, (c) Foregrounding inherited disease risk, (d) Responding to knowledge of genetic vulnerability and (e) Altering or avoiding the family experience of inherited disease. Conclusions and Implications: Presymptomatic genetic testing provides information that can be used to make health behavior decisions. Longitudinal grounded theory studies of this population increase our understanding of the complexities that arise for individuals and their families with genetic testing. On-going development of this theory will be discussed in relation to interviews conducted with a larger sample of young women with BRCA mutations. Theory development and use in relation to other adult onset genetic diseases such as hereditary non-polyposis colon cancer and hemochromatosis will be presented.