A Qualitative Exploration of the Impact of Positive BRCA1/2 Mutation Status on the Lives of Young Women
Condition: BRCA1 Gene; BRCA2 Gene
Study type: Observational

Summary: 
      Background:

        -  Mutations detected in the BRCA1 or BRCA2 genes have been show to produce very high risks
           of breast and ovarian cancer (as high as 90% and 60%, respectively), as well as
           accompanying risks for several other types of cancer. Women who have these genetic
           anomalies and who do not have cancer are aware of their high-risk status, which can have
           an effect on their ability to make decisions about personal choices and health care.

        -  Researchers are interested in learning more about how people who know their cancer risk
           status make decisions on personal relationships, family formation, and risk-reduction
           options.

      Objectives:

      - To study young women s experiences and decision-making processes regarding family history,
      genetic testing, couple relationships, family formation, and cancer risk management within
      the context of their experiences as BRCA1/2 mutation carriers.

      Eligibility:

        -  Women between the ages of 18 and 35 years of age and older who have been identified as
           having a BRCA1 or BRCA2 mutation. Participants must be contemplating or have experienced
           couple relationships, family formation, and/or risk management and reduction.

        -  Participants must be willing to have their interviews digitally recorded

      Design:

        -  Researchers will conduct between 30 and 50 telephone interviews of study participants.
           Each interview will be approximately 90 minutes in length. The interview consists of
           open-ended questions that ask about the participants and their experiences before,
           during, and after they underwent genetic testing for BRCA1/2.

        -  At least one focus group will be coordinated at a national conference for individuals
           who are aware of their genetically based cancer risk. If more than 25 individuals are
           interested in participating in the group, an additional focus group will be convened.

        -  No medical treatments are specifically offered as a part of this study.
    

Detailed description: 
      Background:

        -  BRCA1/2 mutations are present in approximately 1 in 800 individuals in the US, with
           higher frequency among some populations (e.g., Ashkenazi Jews)

        -  Mutations confer a lifetime breast cancer risk approaching 90%, ovarian cancer risk as
           high as 60%, and lesser increases in absolute risks of selected other cancers (e.g.,
           male breast, prostate, pancreas).

        -  We have successfully conducted follow-up interviews with women in our original studies
           who had known about their mutations for less than six months, and have gleaned useful
           longitudinal data. We now propose to conduct additional follow-up interviews with
           participants who were in the process of making significant decisions about
           risk-management, relationships, family formation, and other pertinent issues at the time
           of their initial interviews.

        -  Additionally, previous research indicates that women who undergo genetic testing very
           early in young adulthood (i.e., prior to their 25th birthdays) have genetic counseling
           and support needs that are different from the broader BRCA-positive population.

        -  Research regarding how these very young mutation carriers manage and accommodate their
           risk is scarce. We propose to conduct two focus groups with women who considered and/or
           underwent genetic testing for BRCA prior to their 25th birthdays, who are attending the
           Joining FORCES annual conference in Orlando, FL June 23-25, 2011.

        -  The Study Application has been updated with this amendment to reflect the following
           changes: 1) the inclusion of males who may be enrolled only in the Family Group
           Interview component of the study & 2) the inclusion older individuals as some women may
           wish to include male or older members of their family in Family Group Interview portion
           of the study. To reflect this change the maximum age for study participants has been
           increased to 100 years of age and males are no longer listed as excluded from the study.

      Objectives:

        -  For follow-up to previous study:

           -- Conduct follow-up telephone interviews with participants who were newly-tested at the
           time of original data collection to increase understanding of their mutation-positive
           experience longitudinally.

        -  For 25 & Under study:

             -  Conduct two (2) focus group sessions at the Joining FORCES Annual Conference,
                focusing on the unique genetic counseling and support needs of women who consider
                or undergo genetic testing for BRCA1/2 prior to age 25.

      Eligibility:

        -  For follow-up to previous study:

           -- Individuals who were in the process of making decisions relative to their status as
           mutation positive at the time of their previous interviews will be re-interviewed, in
           order to learn about their longitudinal experiences and expand the data set.

        -  For 25 & Under study:

             -  Women aged 18-24 who have received a positive BRCA1/2 mutation test result.

             -  Women aged 25-30 who considered or completed genetic testing for BRCA1/2 prior to
                their 25th birthdays

             -  English-speaking

             -  Attending the 2011 Joining FORCES Annual Conference.

      Design:

        -  For follow-up to previous study:

             -  Individuals will be invited to participate in a second telephone interview, during
                which they will be asked to describe their mutation-related experience since their
                previous interviews (approximately two years ago).

             -  Questions for each participant will be specifically tailored based on their
                previous interview data. Telephone interviews are anticipated to be approximately
                60 minutes in length.

             -  **Note: In cases where an individual eligible for follow-up is also participating
                in the multi-generational family interview (see Amendment A), the individual
                interview conducted as part of that study will take the place of a follow-up
                telephone interview.

        -  For 25 & Under Study

             -  Individuals who meet eligibility criteria will be invited to participate in either
                of two focus group sessions being held during the FORCE conference.

             -  Following the conference, each participant will be contacted via telephone to
                complete a brief family history interview, in order to provide context for the data
                collected during the focus group.

             -  Focus groups will be conducted using a prepared guide (see attachment).

             -  Participants will be entered into a raffle at each session, and one participant in
                each session will win a $50 gift card.

             -  Focus group sessions and telephone family history interviews will be audio
                recorded; then, they will be transcribed and analyzed using modified grounded
                theoretical design and QSR NVivo v8 software.
    

Observational model: Family-Based
Time perspective: Other
Sampling method: Non-Probability Sample
Study population: 
        Young BRCA1/2 mutation carriers who meet the study criteria.@@@@@@
      
Keywords: Qualitative Research; Semi-Structured Telephone Interview; BRCA 1/2; Psychosocial/Behavioral Research; Hereditary Cancer Risk