The experiences and implications of living with a BRCA1/2 alteration: Establishing the evidence base
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Date
2023-03-23Embargo Date
2025-03-22
Author
Warner, Nikolett Zsuzsanna
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Abstract
Background
BRCA1/2 alterations refer to a pathogenic variant in BRCA1 and BRCA2 genes.
Having a BRCA1/2 alteration leads to a significant increase in lifetime risk of developing
certain cancers, namely melanomas, breast and pancreatic cancers in both sexes, ovarian in
females and prostate in males. The lifetime risk of breast cancer is 87%, and 68% for ovarian
cancer in affected females. To reduce this risk in females, intensive screening schedules,
prophylactic surgeries or pharmacological approaches are undertaken. Psycho-social issues
such as heightened distress or anxiety can occur because of this increased risk, and the need
to make decisions about risk reduction strategy.
Aim
This research aims to explore the subjective experiences of this cohort to better
understand their needs, and how these impact engagement in certain lifestyle behaviours that
are known to reduce breast cancer risk in women.
Method
A combination of quantitative and qualitative methods were used. In Study 1, a
systematic review was conducted to build an evidence base to better understand the processes
of psychological adaptation in this cohort. Study 2 involved qualitative interviews to identify
and understand the subjective experiences of those with BRCA1/2 alterations and their coping
trajectory, alongside their experiences within the Irish healthcare system. Finally, a
quantitative survey was used in Study 3 to assess what predicts health behaviour in
individuals with BRCA1/2 alterations. Previous research has largely used survey methods to
analyse these, but there has been no investigation into the interdependencies between these
predictors and engagement in health behaviour. As such, path analysis on AMOS was utilised
to explore this further. Findings
Study 1 was the first to synthesise interventions which aimed to address psychological
adjustment (outcomes of distress, anxiety, stress, and coping). A dearth of high-quality
interventions with limited use of theory in intervention development was noted, signifying
the need for further research in the field. Study 2 is reported in two articles. The first
highlighted a perceived inadequacy in the healthcare system. The second article reported on
the coping experiences of this population, discussing two core themes. The first theme
referred to “Adjusting to a New Perspective” and had two subthemes. The first subtheme
denoted the “Emotional Aspects” of BRCA1/2 alteration carrier status. The second subtheme
highlighted experiences of “Relationships Changing”, due to the identification of a BRCA1/2
alteration. The second theme was called “Making Sense of BRCA”, and was composed of two
subthemes. The first subtheme reported on how BRCA1/2 alteration carriers leaned on
“Meaning Making”, to cope, alongside the second subtheme, “Hope”, as another coping
technique. The second article from Study 2 discussed the medical experiences of individuals
with BRCA1/2 alterations. Another two themes were reported upon. The first theme
highlighted “Healthcare Services as a Burden to Navigate” and consisted of two subthemes.
The first subtheme highlighted “Healthcare Services as Largely Inaccessible” and the second
“Healthcare Services as Inappropriate”. The second theme discussed the “Burden
Experienced Through Interactions with Healthcare Professionals”. This theme had two
subthemes, the first noted “Negative Interactions with Health Care Providers”, and the
second subtheme collated experiences on “Disempowerment Around Decision Making”.
Finally, Study 3 found that health related cancer preventative behaviours are inversely related
to perceived risk of developing breast cancer, health literacy, and cancer information
overload. Additionally, distress related to genetic testing was inversely related to positive
experiences related to genetic testing, and positively related to perceived control over developing breast cancer and uncertainty related to genetic testing. Finally, perceived risk of
developing breast cancer was inversely related to perceived control of developing breast
cancer and uncertainty related to genetic testing.
Conclusion
The findings of this research provide important new insights into coping and
engagement in health protective behaviours for BRCA1/2 alteration carriers. Moreover, this
research has demonstrated the need for more research in the field and provides a pillar for
future intervention development for this population, required to decrease the psychological
and modifiable health behavioural implications of a BRCA1/2 alteration identification.