Psychosocial experiences and outcomes for individuals with breast cancer after mainstream genetic testing

doi:10.21203/rs.3.rs-4801122/v1

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Research Article

Psychosocial experiences and outcomes for individuals with breast cancer after mainstream genetic testing

https://doi.org/10.21203/rs.3.rs-4801122/v1

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Objective

Mainstreaming is a model of care where non-genetics health professionals offer genetic testing directly to patients. This study aimed to evaluate the patient experience of the Parkville Familial Cancer Centre (FCC) breast cancer mainstream program.

Methods

A sequential mixed methods approach using a cross-sectional survey followed by qualitative interviews was adopted. Psychosocial outcomes included participants’ genetics knowledge, decision regret, impact of test result, adaptation to genetic information, and family communication. Descriptive and comparative analysis compared participant outcomes according to receipt of genetic counselling. Deductive content analysis using a pre-defined codebook was used to analyse the interview data.

Results

68 participants completed the online survey, with no significant difference observed depending on receipt of genetic counselling when it came to decision regret, cancer risk perception and adaptation to genetic test result. 20 participants were interviewed and reported a preference for mainstreaming over the traditional genetics service model of care.

Conclusion

This study demonstrates that while patients preferred the mainstream model of care, it is crucial to involve an FCC to ensure limited genetic counselling resources are provided to the most necessary patients.

Practice Implications

Breast cancer mainstream programs should include an FCC to provide genetic counselling for high-risk patients.

breast cancer

genetic counselling

genetic testing

mainstream genetic testing

service delivery models

hereditary cancer

Demand for cancer genetics services or familial cancer centres (FCCs) in Australia has been steadily increasing [1, 2] due to raised community awareness about hereditary cancer, cancer treatment implications for individuals with germline pathogenic variants, and broadening eligibility criteria for publicly funded genetic testing in Australia [2–4]. This landscape provided impetus for the implementation of a mainstream model of care, whereby patients diagnosed with cancer undergo genetic testing with their cancer specialist during existing medical appointments. This model differs to the traditional approach where patients were referred to an FCC for genetic testing facilitated by genetic health professionals. The mainstream pathway allows for both timely access to genetic test results [5], and a more informative and tailored treatment discussion [6].

Mainstreaming programs were first established in the UK for patients with high grade epithelial ovarian cancer [5, 7]; studies demonstrate that patients are accepting of the mainstream pathway [5, 8]. Mainstreaming in the breast cancer setting is still emerging, due to challenges around guidelines for genetic testing [9, 10], and larger multi-disciplinary teams of breast specialists to engage and train in mainstreaming practices. Nevertheless, there is interest in universally offering genetic testing to all patients with breast cancer [3]. This highlights the importance of consolidating evidence of improved patient outcomes after mainstream genetic testing, and the need to examine clinician and patients’ experiences of breast mainstreaming.

The Parkville Familial Cancer Centre’s (PFCC) breast cancer mainstream program has operated for six years in Victoria, Australia [11], with over 600 patients having undergone mainstream testing to date. The program involves eligible breast cancer patients undergoing mainstream genetic testing with their breast specialist. The PFCC oversees the mainstream tests, and those with pathogenic/likely pathogenic variants, and/or a significant family history of cancer are offered a genetic counselling appointment. Further details about the operation of the PFCC breast mainstream program have been published [11]. In evaluating the PFCC breast mainstream program, three studies have taken place; an audit of program outcomes [11], a cross-sectional quantitative survey exploring the mainstream clinician experience [12], and a mixed methods study exploring patient experiences; the latter of which is presented here and provides vital data on how breast cancer patients experience mainstream testing.

A sequential mixed method research design was adopted consisting of an online cross-sectional survey and qualitative interviews [13, 14]. This approach enabled triangulation of experiential data with psychosocial and clinical outcomes to achieve a holistic understanding of patients’ experiences of the PFCC breast cancer mainstream program.

2.1 Setting and sample population

Men and women who had genetic testing facilitated by their cancer specialist through the PFCC breast cancer mainstream program were eligible to participate. By 24th February 2020, 275 patients had genetic testing through this program since its establishment in 2017. All patients who have mainstream genetic testing are registered in the PFCC clinical genetics database. Patients were excluded if they required an interpreter to facilitate their mainstream genetic testing or had died since receiving their results. Eligible potential participants were identified via the PFCC clinical genetics database and invited via email or mail, with each invitation containing a unique URL to the online study information and survey. The study was given approval to approach breast mainstream patients for consent by the Peter MacCallum Cancer Centre Human Research Ethics Committee (HREC).

2.2 Data collection

After providing consent, participants accessed an online survey hosted using REDCap at the Peter MacCallum Cancer Centre [15, 16]. The survey consisted of 7 sections:

Socio-demographics

Experience of mainstream genetic testing

Decision-making about genetic testing

Cancer risk perception and cancer worry

Impact of genetic testing

Psychological adaptation

Family communication

2.3 Survey design

The design of the survey included purpose-designed questions and Patient Reported Outcome Measures (PROMs) aiming to explore participants’ experience of the PFCC mainstream program. Sociodemographic variables including age, number and gender of children, partner status, level of education, postcode, and household income were collected. Experience of mainstream genetic testing was assessed using nine purpose-designed questions about satisfaction with the timing of when genetic testing was offered, the amount of information provided, which health professional the participant would have preferred to have offered genetic testing. Similarly, family communication was also explored using questions asking whether participants had informed any family members, and then asking which family members they had informed using multiple choice scenarios.

Table 1

PROMs adopted for the survey
Measure	Purpose	Scoring	Interpretation
Knowledge	To assess knowledge of genetics in the hereditary breast cancer setting.	The knowledge subscale from the Multidimensional Measure of Informed Choice (MMIC) [17] was adapted using Wang, Gonzalez [18]. The 8-item measure includes questions about breast cancer genetics, genetic testing and genetic test result implications for family and self, including treatment options (possible score range = 0–8).	Participants were deemed to have “good knowledge” if they answered six or more correctly or “poor knowledge” if they answered five or less correctly.
Decision Regret Scale (DRS) [19]	To determine the level of regret regarding a decision.	Decision regret regarding genetic testing was measured using the 5-item DRS. Scores range from 0 to 100. The Cronbach’s alpha for this scale was 0.73.	Higher scores denote greater decisional regret (range = 0-100).
Breast cancer risk perception assessed using an affective (emotional appraisal) measure and cognitive (probability score) measure of risk perception [20, 21]	To assess participants’ perception of their future risk of breast cancer.	The affective measure consists of a 2-item questionnaire that assesses “feeling at risk” of developing breast cancer, which is considered a better predictor of behaviour than cognitive appraisals alone. The cognitive measure consists of a single numerical continuous scale (0% = no chance of breast cancer to 100% = definitely will get breast cancer), which has high specificity and sensitivity at identifying individuals with very high and very low risk perception.	Higher scores indicate feeling more at risk.
Cancer Worry Scale (CWS) [22]	To assess participants’ fear of breast cancer recurrence.	The Cancer Worry Scale (CWS) is an 8-item questionnaire that assesses concerns about developing cancer or developing cancer again, worries about family and future surgery. Scores range from 8 to 32. The Cronbach’s alpha for this scale was 0.92.	Higher scores indicate more frequent worries about cancer recurrence.
Multidimensional Impact of Cancer Risk Assessment (MICRA) [23]	To assess the impact of receiving a genetic test result.	MICRA is a 25-item questionnaire with three subscales: distress, positive thinking, and uncertainty. Scores range from 0 -100. The Cronbach’s alpha for this scale was 0.80.	Higher MICRA scores indicate greater distress, positive thinking, or uncertainty, respectively.
Psychological Adaptation Scale (PAS) [24]	To measure adaptation to genetic test result.	PAS is a 15-item questionnaire that measures adaptation to a chronic condition or disease risk. Scores range from 15–75. The Cronbach’s alpha for this scale was 0.99.	Higher PAS scores indicate greater adaptation to the condition.

2.4 Interviews

After completion of the survey, a subset of purposively sampled participants were interviewed via telephone (by authors NL, KM and CB). Recruitment ceased after reaching requisite informational power to answer the research questions. Interviews were guided by a semi-structured schedule that covered the participants’ experience of the processes involved in the mainstreaming program, including consenting to genetic testing, receiving their genetic test results, contact from the PFCC, experience of genetic counselling (if relevant) and family communication. Interviews were audio recorded and transcribed verbatim. Transcripts were quality controlled, de-identified, and pseudonyms assigned before analysis.

2.5 Data analysis

2.5.1 Quantitative

De-identified information about responders and non-responders were compared using Chi-X² to determine whether there were any differences by test result or genetic counselling by the PFCC. Participants were characterised according to demographics, test result, and uptake of genetic counselling by the PFCC, and the outcome variables were tabulated to compare participants who did and did not receive genetic counselling. Descriptive statistics were generated for each PROM for patients who did and did not receive genetic counselling and compared using independent samples t-tests. In the absence of evidence-based guidelines for the interpretation of between-group differences in the CWS and risk perception scales, the Cohen’s d effect size was calculated to characterise the size of observed differences (small = 0.2; medium = 0.5; and large = 0.8). Responses to the CWS scale were dichotomised into low (≤ 13) and high cancer worry (≥ 14) and groups were compared using chi-squared testing. Multiple linear regression models were used to examine predictors of cancer worry and perceived cancer risk for patients who did and did not receive genetic counselling. Data were analysed using Stata IC version 14 and p values < 0.05 were considered statistically significant.

2.5.2 Qualitative

Deductive content analysis was adopted to analyse the interview transcripts and assist in contextualising the findings from the survey [25, 26]. A codebook was developed using the concepts defined by the PROMs, and investigators independently coded interview transcripts into categories. QSR International NVivo v12.6.0 software (Massachusetts, USA) supported data management and analysis. Participant quotes are used to illustrate the findings with a pseudonym, age at breast cancer diagnosis in years, the germline test result, and whether or not the participant had genetic counselling in parentheses.

261 patients were invited (56 by email and 205 via mail) and during follow up 34 were identified as not eligible, resulting in 227 patients meeting the eligibility criteria for recruitment. Ultimately, 68 patients responded to the survey (30% response rate) between November 2020 and November 2021. Forty-one participants indicated they were willing to be interviewed and 20 interviews were conducted with 9 participants who had genetic counselling after receipt of their mainstream test result and 11 who did not.

No statistical differences were observed between survey respondents who had received genetic counselling and those who had not in terms of age, sex, relationship status, education, income and whether participants had children (Table 2). The mean age of survey respondents was 48.4 years, with a median age of 50 years (ranging from 20 to 86 years).

Table 2

Participant demographics
	All participants				Subset interviewed
	Had genetic counselling n = 15	No genetic counselling n = 53	Total n = 68	P-value	Interviews n = 20
Age (mean, standard deviation)	49.6 (42.3)	48.1 (12.5)	48.4 (12.5)	0.7	49.4 (14.1)
	n (%)	n (%)	n (%)		n (%)
Sex (female)	14 (93.3)	51 (96.2)	65 (95. 6)	0.6	19 (95%)
Partnered (yes)	12 (80.0)	40 (75.5)	52 (76.5)	0.7	15 (75)
Children (yes)	2 (13.3)	16 (30.2)	18 (26.5)	0.2	14 (70)
Tertiary education (yes)	8 (53.3)	26 (49.1)	34 (50.0)	0.1	19 (95)
Income (≥$90k)	9 (60.0)	29 (54.7)	38 (55.9)	0.1	9 (50)
Genetic test result
Pathogenic variant (PV)	7 (46.7)	0 (0)	7 (10.3)		4 (20%)
Variant of uncertain significance (VUS)	3 (20.0)	0 (0)	3 (4.4)		3 (15%)
Negative	5 (33.3)	53 (100)	58 (85.3)		13 (65%)

The majority of participants were offered mainstream genetic testing by a medical oncologist (55.4%), followed by breast surgeons (40%), radiation oncologists (3.1%) and breast care nurses (1.5%). Participants’ preference of who they would have liked to offer them genetic testing included 33 (50.8%) preferring a medical oncologist, 23 (35.4%) preferring a breast surgeon, two (3.1%) preferring a radiation oncologist, two (3.1%) preferring a genetic counsellor, one (1.5%) preferring a breast care nurse, one (1.5%) preferring a clinical geneticist, one (1.5%) preferring a GP and two (3.1%) having no preference.

Participants’ relationship with their cancer specialist played an important role in their cancer treatment. Participants were happy to have undergone the mainstream genetic testing pathway when the traditional FCC genetic testing model of care was explained during their interview, mostly due to an existing relationship with their cancer specialist, not wanting to engage with new health professionals and to avoid perceived unnecessary extra appointments.

“I have a very good relationship [with their medical oncologist]…very easy to talk to her... she’s always supportive…I’d rather go the way that I did because of the relationship I had with the oncologist. Bringing in another health professional…would muddy the waters for me, I trust my oncologist and I’m happy with her information.” Rose (age 44 and 58, negative, no genetic counselling)

Overall, 63 (96.9%) were satisfied with the timing of their mainstream genetic test; 13 (20%) participants reported being offered testing at the time of their breast cancer diagnosis, 27 (41.5%) before starting their cancer treatment, 12 (18.5%) during their treatment, seven (10.8%) after treatment finished, and six (9.2%) could not remember. When the breast specialist organised genetic testing, most participants recalled receiving information via a verbal conversation (88.2%), almost half (45.6%) recalled receiving an information sheet, one participant (1.5%) was provided a weblink, and two participants (2.9%) reported no information was provided at the time of testing. Most participants were satisfied with the amount of information provided to them by their breast specialist when genetic testing was arranged (93.9%), with two participants (3.1%) wanting more information, one participant (1.5%) wanting less information and one (1.5%) with no preference.

3.1 Knowledge and decision making about genetic testing

Participants who had genetic counselling were statistically more likely to demonstrate “good knowledge” (Table 3). Most participants did not regret their decision to undergo mainstream genetic testing, and this was consistent regardless of receipt of genetic counselling.

Table 3

Genetics knowledge and decision regret
Knowledge	Genetic counselling n = 15	No genetic counselling n = 53	Total n = 68	p value
Good knowledge	11 (73.3%)	15 (33.3%)	26 (43.3%)	$\:\chi\:$² = 7.3; p = 0.01
Poor knowledge	4 (26.7%)	30 (66.7%)	34 (56.7%)	$\:\chi\:$² = 7.3; p = 0.01
Decision regret	n = 15	n = 45	n = 60
Range	20–55	15–70	15–70	t = 1.2 p = 0.2
Median (IQR)	40 (35, 40)	40 (40, 40)	40 (40, 40)
Mean (SD)	38.7 (6.9)	41.6 (8.4)	40.8 (8.1)

Participants described receiving sufficient information prior to having mainstream genetic testing.

“I was very happy...with the information that I received before having the testing, I feel like...everything was well explained to me, I knew what I was doing beforehand.” Frances (age 58, BRCA2 VUS, had genetic counselling)

In the context of having a breast cancer diagnosis, with the whirlwind of cancer treatment coupled with the potential for genetic testing to inform treatment, participants reported not thinking too much before deciding to undergo genetic testing.

“I remember giving verbal consent pretty much straight away...it was a no-brainer for me. One of my good friends gave a really brilliant piece of advice, when we were trying to figure out what to do and what not to do… Say yes to everything, give yourself all the knowledge that you can, try to get all the options sorted now, so...when you’re more settled, [you’ve] got more options on the table…don’t think, just roll with it.” Maddy (age 31, negative, no genetic counselling)

Looking back at their decision to undergo genetic testing, many participants reported feeling like it was the right thing to do, and so retrospectively were still in support of the decision they made. This may have been due to the relief they described feeling after receiving their test result. Of the few participants who received a positive result, understanding the aetiology of their cancer diagnosis was a valued part of the process.

“I think when it [BRCA2] was mentioned...I had never heard of it before, it was the fact that it explained how I got it [breast cancer], where it came from...it was sort of a nice feeling to know how it happened.” Derek (age 68, BRCA2 PV, had genetic counselling)

The majority of patients who received a negative genetic test result described their relief.

“...absolute huge relief, you know especially after everything that you go through with breast cancer and treatment...it’s a nice feeling...good news.” Jessica (age 56, negative, no genetic counselling)

3.2 Breast cancer risk perception and cancer worry

There were no observed differences in risk perception or cancer worry amidst those who underwent genetic counselling and those who did not (Table 4).

Table 4

Cancer risk perception and cancer worry scale
	Had genetic counselling n = 15	No genetic counselling n = 45	Total n = 60
Perceived chance of developing breast cancer again
Range	0–100	0–100	0–100	t = 1.4 p = 0.2
Median (IQR)	25 (6, 60)	50 (20, 70)	33 (17, 69.5)
Mean (SD)	32.7 (30.8)	46.1 (31.2)	42.7 (31.4)
Cancer worry scale
Range	11–30	8–31	8–31	t = 0.3 p = 0.2
Median (IQR)	14 (12, 19)	16 (12, 21)	15.5 (12, 20)
Mean (SD)	16.3 (5.4)	16.8 (5.4)	16.7 (5.4)

With the shock and chaos of a cancer diagnosis, anxiety was commonly reported by interviewees. One participant who had had two primary breast cancer diagnoses 14 years apart reflected on the persistent cancer anxiety she experienced after her first diagnosis:

“It is at the back of your mind every day and there is nothing you can do to escape that…Most days you just move on but other days, when something happens…you think “oh is this something?”. So, I think any person who has had a malignancy will probably have those same concerns.” Rose (age 44 and 58, negative, no genetic counselling)

For some participants, cancer anxiety led to a desire for preventative surgery receiving their breast cancer diagnosis.

“I knew at that point, I just did not want…ovaries that could turn to cancer, or anything else. And I just wanted everything out.” Annie (age 34, negative, no genetic counselling)

Having the mainstream test did not appear to increase participant worry beyond that related to their cancer diagnosis, with many participants describing feeling like the mainstream test was no more significant than any other of the tests associated with their cancer treatment.

“To me it was just a test, another test, it didn’t really have [an] impact on me.” Matilda (age 34, negative, no genetic counselling)

3.3 Impact of genetic test result and adaptation to genetic information

There were no observed differences between participants who underwent genetic counselling and those who did not in terms of the impact of the genetic test result and adaptation (Table 5).

Table 5

Impact of genetic test result and adaptation to genetic information
	Had genetic counselling n = 15	No genetic counselling n = 45	Total n = 60	p value
Impact of genetic test result
Range	6–80	0–88	0–88	p = 0.6
Median (IQR)	52.5 (15, 74)	35 (12, 76)	40 (12, 76)
Mean (SD)	46.6 (28.4)	41.2 (30.4)	42.5 (29.8)
Adaptation
Range	15–75	15–75	15–75	p = 0.3
Median (IQR)	46 (35, 71)	45 (20, 64)	45 (24, 66)
Mean (SD)	49.1 (20.0)	42.6 (21.7)	44.2 (21.3)

One participant described feeling her treatment decision was validated by her genetic test result which she received immediately prior to undergoing bilateral mastectomy.

“...when I got my diagnosis...I decided I was going to have a double bilateral radical mastectomy. I pretty much argued with the [doctor]. I was like, it’s happening my way or it’s not happening at all sort of thing... basically when I was in theatre...they were like...you’re BRCA2 positive. And I closed my eyes going, I made the absolute right decision, I’m really happy.” Lucy (age 30, BRCA2 PV, had genetic counselling)

In processing their genetic test result, participants who had genetic counselling valued the information, time and space afforded to them by the genetic counsellor to assist in this process.

“…[they] gave me a wealth of information…[they were] so lovely and I do remember being very grateful that [they] had time to spend with me.” Frances (age 58, BRCA2 VUS, had genetic counselling)

3.4 Family communication

Most participants had informed family members about their genetic test results (91.5%), and this was similarly reported for both those who underwent genetic counselling and those who did not (p = 0.8). All participants who underwent genetic counselling reported informing at least close relatives, whereas participants who did not have genetic counselling (all of whom had negative genetic test results) seemed to be more varied in who they had told (Table 6).

Table 6

Family members reportedly informed about participants’ genetic test result.
	Had genetic counselling n = 13	No genetic counselling n = 41	Total n = 54
“I've told those most likely to be impacted (e.g. sisters, daughters)”	0 (0%)	10 (24.4%)	10 (18.5%)
“I've told some or all of my close (blood) relatives”	8 (61.5%)	17 (41.5%)	25 (46.3%)
“I've told my close relatives and some extended relatives”	5 (38.5%)	14 (34.1%)	19 (35.2%)

Participants described feeling motivated to inform family members of genetic testing. Some participants spoke with family about their genetic test whilst trying to gather details about their family history of cancer.

“I was…starting to talk to parents and grandparents about, what’s your history? ...Who, if anyone, has had a history of cancer or breast cancer and kind of highlighting how murky our family history is...yeah, it often starts those...family conversations…” Zoe (age 34, BRCA1 VUS, had genetic counselling)

For those with a pathogenic variant, participants described wanting to inform relatives so that they could access genetic testing and described the support they received from the PFCC to assist with this.

“So, my uncle who got tested [interstate], oh my god, he had to go through so many hoops to get it done ...we had been told by [PFCC] that he should go [to] a hospital in [city], he should get a referral from his GP. So, [PFCC] was very helpful in trying to help him with the process but the process in [city] was a nightmare....it was really complicated. Took them months and months to get it done. …[PFCC] was very helpful, we eventually got it done in [city] for him.” Mary (age 51, BRCA1 PV, had genetic counselling)

Genetic counselling was critical in supporting patients to feel prepared about communicating genetic information by understanding who their at-risk family members were and what they needed to tell them about the hereditary cancer risk.

“I brought it up with [my relatives] a couple of years ago....once [GC] got me on the job, I sort of got in touch with who I could get in contact with pretty quickly...Yeah so, I did, leave that meeting [with the genetic counsellor] feeling that I knew everything that I needed to know to go ahead and contact my family members, could answer all their questions.” Derek (age 68, BRCA2 PV, had genetic counselling)

This is the largest mixed methods study to explore patients’ experience of breast cancer mainstream genetic testing to date and demonstrated that the study participants supported and preferred the mainstream model of care to having genetic testing at an FCC. This preference was underpinned by the enduring relationship with their medical oncologist, where the study participants trusted their doctor’s reason and capability for ordering the genetic test and appreciated that it negated the need to see another health professional as part of their care continuum.

This cohort is reasonably representative of the individuals who are most commonly offered genetic testing after a breast cancer diagnosis under varying genetic testing guidelines, with the mean age only slightly younger than cohorts from studies where universal genetic testing was offered to all breast cancer patients [1, 8]. Preference regarding which healthcare professional offers genetic testing varies in the literature but correlates with the lived experience of this study’s participants. For example, when participants who saw an FCC for treatment focussed genetic testing (TFGT) were asked their preference was to see a genetics specialist for TFGT and similar findings came from participants in the alternate scenario where genetic testing was offered by their cancer specialist [5, 27, 28]. This correlation was also observed in our cohort, where breast specialists were the preferred healthcare professional to offer genetic testing due to the existing relationship with their breast specialist, avoiding the need to connect with a new health professional and to reduce the number of appointments at an already overwhelming time. In other studies, these same reasons have been cited when expressing a preference for the mainstream model of care over the traditional FCC model [27, 29, 30]. Whilst it is unsurprising people prefer the specialist that did provide them with genetic testing, especially if they haven’t experienced undergoing genetic testing with the alternative healthcare specialist option, it is encouraging that participants in this study did not demonstrate decision regret, which is a similar finding to other studies [1, 5, 31–34].

Fear of cancer recurrence is a common and normal phenomenon amongst those with a breast cancer diagnosis, and for most women with breast cancer the feeling can fluctuate over time [35]. Despite some initial concern around the timing of genetic testing when it occurs close to a cancer diagnosis [36], studies have since shown that genetic testing after a cancer diagnosis doesn’t appear to increase distress [37]. In this study, no difference was observed in cancer risk perception and cancer worry between those who did and did not receive genetic counselling, with just under half of those who received genetic counselling being pathogenic variant carriers. This finding is in line with the MAGIC study, where median cancer specific distress scores were similar amongst those who had positive and negative genetic test results [1]. Collectively with participants expressing support for the timing of their genetic test being close to breast cancer diagnosis or early on in treatment, this continues to strengthen the evidence that genetic testing can be successfully incorporated into cancer care [28, 30, 34, 38].

Stafford, Judd [39] showed that anxiety and depressive symptoms are highest at time of cancer diagnosis. Patients with newly diagnosed breast or ovarian cancer who undergo genetic testing for BRCA1 and BRCA2 have been shown to have comparable anxiety and depression symptoms to cancer patients in general [8]. Interestingly, participants in our study who underwent genetic counselling had no difference in cancer worry, impact or adaptation compared to patients who did not receive genetic counselling, and given that most of the group who did have genetic counselling had received high risk or ambiguous genetic test results, this indicates that genetic counselling for this group assisted them such that the adaptation to the result was the same as for patients with low risk results. Whilst studies have shown that genetic counselling improves patient outcomes [40, 41], given mainstreaming programs move the genetic testing pathway out of genetic services and into oncology/surgical clinics, it is crucial that patients with pathogenic variants, psychosocial challenges, or high risk family histories are given the option of genetic counselling to aid in support and assist with adaptation [42].

Informed consent

is a critical component of genetic testing, with the principles of what constitutes informed consent being debated within the genetics community for some time [28, 34, 38]. As genetic testing moves further into the ‘mainstream’ or non-genetics health settings, the ability to achieve gold standard informed consent for genetic testing has proved challenging [30]. Within this retrospective study, over half the participants demonstrated a poor knowledge of genetics, with many reporting they did not think too much about undergoing mainstream genetic testing and considering the decision to undergo testing a ‘no brainer’ particularly in the context of making treatment decisions. Studies involving mainstream or TFGT pathways have shown patients prefer receiving step-wise information as needed, with a focus on the most pertinent information relevant for the patient initially and only receiving additional information relating to extended implications of genetic testing if needed once results are available [27–30]. Given participants who had received genetic counselling (which included those who had received a pathogenic variant or VUS result) had statistically better knowledge of genetics, this suggests that those with positive or ambiguous results and therefore a potential for impact on their treatment and family members are left with a greater knowledge of genetics, and those with results that have minimal impact on their treatment and family members have less genetics knowledge. As participants did not regret their decision and preferred mainstream genetic testing particularly in the whirlwind setting of a cancer diagnosis and treatment, this collectively supports the step-wise approach to information giving within the mainstream setting. Furthermore, participants in this study reflected on the benefit and support they received from genetic counsellors particularly for family communication, which confirms the importance of genetic counselling involvement in mainstream programs [27, 29, 30].

4.1 Limitations

Limitations of this study include the retrospective methodology, which has relied on participant recall of their mainstream genetic test experience which for most occurred during their cancer treatment. In addition, the genetics knowledge questions asked as part of the multidimensional measure of informed choice (MMIC) may not have been appropriately suited to the participant group who tested negative as it is not fundamentally crucial that these individuals understand the genetics concepts being assessed. Finally, with no comparative control group who underwent genetic testing through the traditional FCC pathway, there isn’t a way to comprehensively compare the mainstream experience with the experience of the usual model of care.

4.2 Practice Implications

When developing and implementing breast cancer mainstream programs, an FCC should be involved in the program to ensure high risk patients can access genetic counselling and support.

This study has consolidated evidence that patients prefer mainstream genetic testing over the traditional FCC genetic testing pathway. The findings from this study demonstrate that whilst breast cancer patients undergoing mainstream genetic testing may not be as fully informed when making their decision compared with traditional genetic counselling consent within a genetics service, provided that genetic counselling is received for those who do go on to receive positive test results or have a significant family history of cancer, this will suffice to aid in adaptation, and support family communication. Ultimately, whilst the mainstream model of care is preferred by patients, it is essential to include an FCC within mainstream programs to ensure limited genetic counselling resources are provided to the patients who need them most.

Consent to participate

Informed consent was obtained from all individual participants included in the study.

I confirm all patient/personal identifiers have been removed or disguised so the patient/person(s) described are not identifiable and cannot be identified through the details of the story.

Ethics approval

This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of the Peter MacCallum Cancer Centre (05.08.2020/HREC/64633/PMCC-2020).

Data availability

Redacted transcripts from the qualitative interviews cannot be made available given the sensitivity of the data collected for this study.

Funding

The authors did not receive support from any organization for the submitted work.

Declaration of Competing Interest

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Authors’ contributions

All authors contributed to the study conception and design. Material preparation and analysis were performed by Catherine Beard, Katrina Monohan, Nitzan Lang, and Laura Forrest. The first draft of the manuscript was written by Catherine Beard and Katrina Monohan and all authors commented on previous versions of the manuscript. All authors read and approved the final version of the manuscript.

Acknowledgements

The authors wish to acknowledge the participants who generously offered their time to take part in the study. In addition, we wish to acknowledge the mainstream specialists and genetic counsellors who support patients throughout the PFCC mainstream program.

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Psychosocial experiences and outcomes for individuals with breast cancer after mainstream genetic testing

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Abstract

1. Introduction

2. Methods

2.1 Setting and sample population

2.2 Data collection

2.3 Survey design

2.4 Interviews

2.5 Data analysis

2.5.1 Quantitative

2.5.2 Qualitative

3. Results

3.1 Knowledge and decision making about genetic testing

3.2 Breast cancer risk perception and cancer worry

3.3 Impact of genetic test result and adaptation to genetic information

3.4 Family communication

4. Discussion

4.1 Limitations

4.2 Practice Implications

5. Conclusion

Declarations

References

Additional Declarations

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