Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome

https://doi.org/10.1016/j.pec.2017.12.011Get rights and content

Highlights

  • A qualitative study of why gynecologic cancer patients decline genetic testing.

  • Themes identified included lack of importance and level of information received.

  • Timing of referral; fear and perceptions of counseling were also identified.

  • Most participants did not appreciate the potential benefits of testing.

Abstract

Objective

The aim of the current study was to explore barriers to genetic counseling and testing in women with gynecological cancers deemed at significant risk of carrying a germline mutation.

Methods

A qualitative study using semi-structured interviews and inductively analysed thematically. Eight patients with ovarian or endometrial cancer participated in individual semi-structured telephone interviews that assessed motivation for genetic counseling and testing, perceived benefits and barriers, timing of the approach, perceptions of the referral process to genetic services and locus of control in relation to cancer and health.

Results

Analysis of the interview transcripts revealed five themes relating to perceptions of genetic counseling and testing: Lack of importance; Level of information received; Timing of referral processes; Fear and anxiety; Resistance to and perceptions of counseling.

Conclusions

Participants had a limited understanding of hereditary cancer syndromes and did not appreciate the benefits of genetic testing. A consistent approach at the time of referral to genetic services is needed to ensure that the level and format of information is appropriate for patients.

Practice implications

The rationale for genetic testing needs to be better explained to patients and the timing of referral should be based both on treatment priorities and patient preferences.

Introduction

Genetic predisposition is a risk factor for ovarian and endometrial cancer. It is estimated that 13% of ovarian cancers are caused by germline mutations in genes such as BRCA1, BRCA2 and the mismatch repair genes associated with Lynch syndrome [1]. Approximately 2% of endometrial cancers are associated with hereditary dispositions such as Lynch syndrome [[2], [3]]. It is an imperative to identify women with germline mutations because there are no effective screening tests for ovarian and endometrial cancers and risk-reducing strategies are available for women at high risk [4]. Furthermore, poly-ADP ribose polymerase (PARP) inhibitors improve progression-free survival and have recently been approved for use in germline BRCA mutation carriers with recurrent, platinum-sensitive high-grade serous tubo-ovarian carcinoma [5].

Genetic counseling in conjunction with germline mutation testing enhances patient knowledge of cancer genetics and understanding of risk, thereby helping to inform the decision-making processes regarding treatment and management. Despite this, some patients choose to decline referral to genetic services [6]. Few studies have investigated barriers to genetic counseling and testing in women with gynecological cancer diagnoses and these have been survey-based or retrospective analyses [[2], [7], [8], [9], [10], [11], [12]]. To our knowledge, no study has used a qualitative approach. We aimed to explore barriers to genetic counseling and testing in gynecological cancer patients considered to be at significant risk of carrying a germline mutation, using qualitative methodology.

Section snippets

Participant recruitment

Following Human Research Ethics Committee approval (St John of God Healthcare Human Research Ethics Committee, #1034, 21.09.2016 and the Women and Newborn Health Service Human Research Ethics Committee, #2016098EW, 30.08.2016), purposive sampling [13] was used to identify eligible participants from the records of Genetic Services of Western Australia (GSWA), a statewide clinical genetic service in Western Australia. Inclusion criteria were: women with an ovarian or endometrial cancer diagnosis,

Results

Of the 30 eligible patients, eight patients participated in the study, twenty-one patients declined study involvement or could not be contacted and one patient died after the invitation letter had been mailed. Table 1 shows the participants’ characteristics. Of note, none of the participants were of childbearing age and half had no offspring. Five participants had received a diagnosis of endometrial cancer and were referred to GSWA after they had completed treatment.

Non-responders consisted of

Discussion

Participants did not believe that genetic testing was important or personally relevant. Consistent with previous research, factors identified related to lack of perceived importance of genetic testing such as not having children and perceiving no personal benefits [[2], [7], [10], [11], [12], [17]]. Consistent with the findings of Petzel et al. [17] and Godard et al. [12], Participants were unaware of the benefits of genetic testing to themselves or their family (including extended family

Conclusion

In summary, some participants recalled receiving little or no information regarding the benefits of genetic testing, while others felt that they received too much information. Participants appeared to have a limited understanding of hereditary cancer syndromes and thus did not see the benefits of genetic testing for themselves or their family members.

Conflict of interest

None.

Funding

None.

Author contributions

JS conceived and designed the study, acquired the data, analysed and interpreted the data, drafted the article, revised it critically for important intellectual content and approved the final submitted version.

CB conceived and designed the study, analysed and interpreted the data, drafted the article, revised it critically for important intellectual content and approved the final submitted version.

PAC conceived and designed the study, analysed and interpreted the data, drafted the article,

Acknowledgments

The authors would like to thank all the participants who made this study possible.

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