Maximising survival: the status passage from cancer diagnosis to inherited genetic condition in women with hereditary breast and/or ovarian cancer

Personal Author: Jeffers, Lisa 
Year: 2011.
Dissertation: PdD Thesis -- University of Ulster, 2011. 

Abstract

Background

The rationale for this study evolved from my clinical practice as a genetic nurse counsellor specialising in cancer genetics. Hereditary breast and/or ovarian cancer (HBOC) accounts for 5-10% of all breast and ovarian cancer diagnoses, with a significant proportion of these being connected to a BRCA1 or BRCA2 mutation. Mutation carriers are at high risk (50%-85%) of developing breast cancer and ovarian cancer (20%-40%) and often face life changing decisions (Ford, et al; 1998). Women do not routinely receive a follow-up appointment with a genetic counsellor so once they leave the genetics clinic there is little known on how their genetic status impacts their personal, familial and social circumstances over time.

Most research in this population has been undertaken with women who carry a BRCA1/2 mutation, but have not yet experienced cancer and it is uncertain whether findings reflect the experience of women whose cancer diagnosis is compounded by a positive genetic test.

Aims

Consistent with grounded theory methodology the broad aim was to explore the experience and needs of women with a diagnosis of hereditary breast and/or ovarian cancer and a positive genetic test.

Methods

Convenience sampling was used to recruit women who had attended the Northern Ireland Regional Genetics Service for genetic counselling and testing. A two stage approach incorporating a retrospective group (n=11) and a longitudinal group (n=15) was used. The retrospective group were interviewed at one time point only between six months and two years after receipt of a positive BRCA1/2 test result. Data from this group provided broad areas of interest. The longitudinal group were interviewed on one to four occasions over a two year period. First interviews took place within one month of receiving a positive genetic test result and this group completed reflective diaries. Theoretical sampling of twenty-six women, three relatives and four health professionals (n=33) generated the total number of interviews (n=49). The theoretical and analytical rules of Classic Grounded Theory were applied to the data (Glaser, 1978).

Results

A substantive theory of maximising survival was generated that explains and predicts the behaviour and psychosocial processes women with HBOC experience. Four stages were identified: behaving altruistically, verifying genetic status, striving to contain cancer and reconstituting identity. The key findings from this study are:

• The overall main concern for women is passing on an abnormal gene to their children
• Confirmation of a positive genetic test shifted women’s priorities to management of their personal risk over their concern about risk to other family members including their children
• Waiting for risk-reducing surgery was a traumatic time for women, during which they experienced increased cancer worry and anxiety and felt isolated and unsupported by health professionals
• Talking to the researcher was the first opportunity some women had to openly explore and discuss their feelings around their affected gene carrier status and its personal and familial implications
• Although this study interviewed women after they had received a positive genetic test result the process of maximising survival begins earlier in their experience of cancer and heredity

Discussion

Women from high risk families often expect to develop cancer and although it is a devastating experience it is not always a shock. They altruistically engage with the process of genetic counselling and testing to gain information that will benefit their families (Hallowell et al; 2004). However, confirmation of a positive test result leads women to prioritise their own health needs, a shift that is congruent with their need to survive to nurture their children. The decision to undergo risk-reducing surgery is taken to alleviate uncertainty and the threat of cancer returning and to maximise survival. Waiting for surgical intervention creates anxiety and leaves women in a state of ‘suspended living’ and many regress to avoidance coping. Absence of a clear care pathway for these women as they move through testing, genetic diagnosis, risk-reducing surgery and beyond coupled with a lack of information and support contribute to their anxiety. Closer multidisciplinary working and further engagement with service users is required to develop more appropriate and responsive care for this population.

Contribution to nursing scholarship and health care practice

This study has clearly demarcated women with HBOC who are BRCA1/2 carriers and identified their main concerns, from their perspective, around the genetic testing process and beyond. This substantive theory explains and predicts the psychosocial outcomes in women with HBOC and adds to studies that have relied on describing psychological effects such as anxiety and distress in this population. The literature is equivocal on the psychological outcomes of genetic testing in HBOC and this study adds to the debate by defining concepts that explain the impact of testing on women and their families over time (Meiser, 2005). Understanding how women cope with and adapt to living with inherited cancer and the geneticisation of the family is informed by these findings. Such strengths give it the currency to be used as a framework to assess and meet the needs of this population undergoing genetic counselling and testing.

To address the concerns of this population I have mobilised my local cancer network to facilitate setting up a multi professional working group to establish a regional patient pathway from the disclosure of a genetic test result through to risk-reducing surgery/surveillance and follow up care. Concurrently I am engaged with a local user group who have set up a support website for BRCA carriers with the shared aim of influencing policy development for this population.

References

Ford D, Easton DF, Stratton M., Narod S, Goldgar D, Devilee P, et al . (1998). As cited in Van Roosmalen MS, Stalmeier PFM, Verhoef LCG, Hoekstra-Weebers JEHM, Oosterwijk JC, Hoogerbrugge N, Moog U and Van Daal WAJ (2004) Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer. American Journal of Medical Genetics, 124 A (4), pp.346-355.
Glaser B (1978) Theoretical Sensitivity: Advances in the methodology of grounded theory. The Sociological Press, Mill Valley, California.
Hallowell N, Foster C, Eeles R, Ardern-Jones A and Watson M (2004) Accommodating risk: responses to BRCA1/2 genetic testing of women who have had cancer. Social Science & Medicine, 59 (3), pp.553-565.
Meiser B (2005) Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psycho-Oncology, 14 (12), pp.1060-1074.  

Access the full e-thesis

Jeffers L (2011) Maximising survival: the status passage from cancer diagnosis to inherited genetic condition in women with hereditary breast and/or ovarian cancer (PDF 2.07MB), Ph.D., University of Ulster.

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