Patient-oriented study design

This study received ethics approval from the provincial health research ethics board (Reference # 2018.010). A provincial survey and qualitative interviews explored and measured female BRCA carriers’ experiences with genetic testing, managing their increased cancer risk (including prophylactic surgical decisions), challenges faced with the current model of care, impact their BRCA mutation has on their lives, and perspectives about the need for an inherited cancer registry. The study was co-designed with three patient partners to ground the project in patients’ perspectives and priority research areas and included patient-reported experiences and outcomes.

Measurement of adherence variable

Participants’ level of adherence to risk management recommendations was defined according to clinical guidelines (NCCN 2023), clinical judgment of the physicians on the team, and prior review of medical records of the BRCA population in NL (Hand et al. 2023). Carriers were considered very adherent if they were aged 25 to 75 years and were both adherent to breast guidelines and had completed RRSO (if eligible). Individuals 25- to 75-year olds with no breast screening or BPM and no RRSO (if eligible) were considered non-adherent. Individuals were considered moderately adherent when they had followed at least one guideline recommendation, but not all. For BPM, eligibility criteria were females between 25 to 75 years of age with breast(s) at the time of genetic testing. For MRI and mammogram, eligibility was similar—females with breast(s) at time of data analysis and 25 to 75 years of age (MRI) and 30 to 75 years of age (mammogram). Females with ovaries at the time of genetic testing were considered eligible for RRSO if 35–75 years with BRCA1 mutations and 40 to 75 years of age if BRCA 2 mutation carriers.

BRCA carrier postal survey

The research team created the descriptive survey informed by the literature on BRCA mutation carriers, providers’ clinical experience, and the lived experience of patient partners. The survey contained several sections, including opinions on developing a centralized, coordinated-care service and registry for families with hereditary breast ovarian cancer, perceived adherence to screening and prevention guidelines, and satisfaction with current health services. All items were measured on a 5-point Likert scale from Strongly Agree (1) to Strongly Disagree (5), such that higher mean responses indicated greater disagreement with items. Survey items related to registries are presented in this study, but the full survey is included in the Supplementary information.

Survey sampling and recruitment

All known female BRCA pathogenic carriers in the province over 18 years old and residing in NL were eligible to receive the survey. Records from the Provincial Medical Genetics Program (PMGP) were queried to obtain a dataset of all BRCA carriers up to the time of the BRCA clinical review (which was 2017; Hand et al. 2023). Clinicians on the study team identified all patients who had received a BRCA mutation-positive result reported through the program clinically (since 2006) and through research (1994–2006), including individuals who had obtained results through private or out-of-province testing. A total of 140 surveys were mailed with one subsequent follow-up phone call from a research nurse to ensure receipt and answer questions.

Clinical data

As noted, a review of BRCA carriers medical records in NL up to 2017 (Hand et al. 2023) extracted screening and surgical data including mammograms and RRSO in order to categorize carriers’ level of adherence to recommended risk management guidelines. Prior cancer history was also extracted. Those surveys that had correctly been given an ID # at the time of mailout were added to the clinical data file, allowing the linking of survey data to adherence level.

Data was analyzed using SPSS Software 27.0. Descriptive statistics including counts and percentages, as well as means and standard deviations where appropriate, are reported for demographic and survey items.

Qualitative interviews

A semi-structured interview guide (Supplementary information) was followed to ensure similar content was encompassed across interviews while allowing for question-order flexibility and clarification through probing. Semi-structured interviews also allowed patients to raise additional ideas that came to mind during the conversation. The interview questions aimed to gain a full picture of patients’ experience as a BRCA carrier in NL and their opinions on a provincial inherited cancer registry. Questions were constructed by the research team, in discussion with patient partners to ensure priority areas were included. Questions probed patients about how they manage their care and any barriers that limit their ability to access care, their willingness to take part in an inherited registry and their perceived advantages and concerns, and the types of research that are important to them. Prompts were used when necessary to gather the most comprehensive account of BRCA carriers’ experiences.

Sampling and recruitment

Inclusion criteria consisted of females over the age of 18 with a BRCA1 or BRCA2 pathogenic variant confirmed through the PMGP. Carriers who had been previously diagnosed with cancer, who currently had a cancer diagnosis, or who had never received a cancer diagnosis were able to participate in the study, which ensured narratives were representative of a range of cancer experiences and risk management recommendations.

Recruitment was conducted by physicians within patients’ circle of care. Purposeful sampling was used to ensure variability in the range of experience with inherited cancer, differing years since receiving carrier status, differing numbers of affected family members, varying ages, and residence in different areas of the island. The goal of purposeful sampling, as described by Sandelowski et al. (2000) is, “to obtain cases deemed information rich for the purpose of the study.”

Participants were invited to participate in either an individual interview (in person, by phone, or by email) or a focus group with other BRCA carriers. Providing participants with multiple study involvement options allowed them to take part in the way most comfortable and accessible to them. Discussing cancer history and risk can be distressing; individual interview options allowed a private discussion. Ultimately, all participants chose an individual interview, and no group discussions were conducted.

Data collection and analysis

Interviews were audio-recorded and transcribed verbatim. The interview guide was used for all interviews; however, questions were not necessarily asked in the same order in each interview, and participants were encouraged to ask any questions or raise any other issues important to them. Thus, while the order of topics varied slightly, all content areas on the interview guide were covered in every interview. Interviews proceeded until no new ideas or themes were developed. Once data saturation was deemed complete, no further interviews were conducted.

Qualitative description (Sandelowski 2000, 2010; Chafe 2017) was used to summarize the data about carriers’ accounts of ongoing management of inherited cancer risk. This form of naturalistic inquiry aims to present the data in the participants’ language, resulting in a comprehensive summary of the event in question. It is particularly useful for research aiming to provide data to inform health services provision (Chafe 2017), a key goal of this study.

The process of analyzing the data began with the familiarization of the transcripts. After the first three interviews were transcribed, transcripts were reviewed by JH and HE together, identifying emerging initial ideas and potential codes. After interviews were completed, a full review of the transcripts began. Interviews were read independently by these team members, again making notes of potential codes and themes. Both team members then met to discuss surface-level ideas and potential themes and codes that became relevant throughout the familiarizing processes. The goal of these sessions was to ensure transcriptions were thoroughly read and discussed.

Once all interviews had been actively read and ideas initiated, formally generating the initial codes began. Transcripts were again read in their entirety by JH, this time with a more active goal of generating as many codes as possible. A complete list of each potential codes was kept, attempting to code for as many potential ideas as possible. After all transcriptions had been re-read and a full code list generated, several higher-order themes became clear by noting which ideas fit under the same general label. At this stage, a complete list of codes, with their hierarchical themes, began to develop. It was important at this stage not to remove potential codes because they were not popular throughout many transcripts and avoid reducing codes down too much, as this can result in nonspecific codes. After the full code and theme chart were generated, NVivo Software was used to code all interviews with the complete list of codes and themes. Through this rigorous coding process, the most relevant and important themes became apparent, and it was evident that thematic saturation had indeed occurred. JH and HE then met to review and finalize final themes before they were shared with the study team and patient partners.

Reflexivity considerations

This study is part of a larger program of research led by a team of clinicians and researchers who strongly believe in the value of inherited cancer registries and that a new model of coordinated care is needed for families with hereditary cancers. It was important for analysts (HE, JH) to be aware of this motivation in the analysis of data. During analysis meetings, JH and HE would continuously assess findings to ensure themes and codes developed logically from the transcripts and to discuss alternative interpretations. And as noted, final codes and themes were reviewed by patient partners as a further check.

It was also important that the interviewer appears impartial and neutral so participants understood they could provide information in a confidential space. For example, it was shared with participants that the interviewer (JH) was not connected to a particular doctor. This often allowed them to open up and share their healthcare experiences candidly, without concern the interviewer was partial.

Finally, close attention to context was paid during the generation of initial codes and final themes. For example, if a participant disclosed that they did not know about their family’s history of cancer, it was important to think about the context in which this information was given. A participant may not know about their family’s history of cancer because there actually is not a strong family history or because the participant was not close with members of their family and did not have access to this information or because they had never asked their family about this information. As such, not knowing about family history of cancer might be coded as “lack of family cancer knowledge,” whereas in other considerations of context, this might be coded as “unmotivated to learn about BRCA and cancer risk.”