Trial Information

A Qualitative Exploration of the Impact of Positive BRCA 1/2 Mutation Status on the Lives of Young Women

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.