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Journal of Community Genetics logoLink to Journal of Community Genetics
. 2022 Jul 22;13(6):547–556. doi: 10.1007/s12687-022-00603-1

Insight into how patients with prostate cancer interpret and communicate genetic test results: implications for families

Amy E Leader 1,✉, Joanna Mercado 2, Austin Klein 3, Colette Hyatt 4, Laura Gross 1,4, Rachael Brandt 2, Veda N Giri 1,4
PMCID: PMC9681950  PMID: 35869324

Abstract

Patients with prostate cancer (PCA) are increasingly being offered germline genetic testing for precision therapy, precision management, and clinical trial options. Genetic test results also have implications for family members. How men with PCA perceive their genetic test results and decide whether to share recommendations with family members is not well studied. We interviewed 12 patients who had PCA and genetic testing and received a positive variant/likely positive variant (PV/LPV) (n = 7) or a variant of unknown significance (VUS) (n = 5) result. The semi-structured interview had five sections: genetic testing experience, impact, and interpretation of the test result, deciding whether to communicate test results to family members, impact of communication on family members, and suggestions for genetic counselors and other PCA patients. Interviews were transcribed verbatim and thematic analysis was completed using NVivo software v10. Receipt of PV/LPV or VUS genetic test results was not as emotional as receiving the diagnosis of PCA itself. Seven of the 12 participants chose to share their test results with all relevant family members, 4 chose to share with select family members, and one chose to not disclose to any family members. The majority of family members who were aware of participants’ genetic results have not undergone cascade genetic testing or sought cancer screening. Participants with PCA and positive or VUS genetic test results typically share their results with at least immediate family members, but some communication barriers exist. Understanding the best way to provide actionable and relevant information about genetic testing to family members remains a challenge.

Supplementary Information

The online version contains supplementary material available at 10.1007/s12687-022-00603-1.

Background

The American Cancer Society estimates that 248,530 men will be diagnosed prostate cancer (PCA) and 34,130 men will die of PCA in 2021 (American Cancer Society 2021). Approximately 12–17% of men with metastatic PCA have been reported to have germline mutations in key genes including BRCA2, ATM, CHEK2, BRCA1, RAD51D, or PALB2 (Pritchard et al. 2016; Nicolosi et al. 2019; Genetics of Prostate Cancer (PDQ®)–Health Professional Version (2020)). Clinical genetic testing for PCA is rapidly expanding due to the implications for precision therapy, precision management, and PCA screening (Genetics of Prostate Cancer (PDQ®)–Health Professional Version (2020); National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: colorectal (Version 1.(2021), (2021)); Giri et al. 2020; National Comprehensive Cancer Network Clinical in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: breast ovarian and pancreatic (Version 1.(2021) (2020); National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Prostate cancer (Version2.(2020) (2020)).

NCCN guidelines recommend cancer screening based upon genetic results and family history (FH) and are important to impart to men to discuss with their families (National Comprehensive Cancer Network Clinical in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: breast ovarian and pancreatic (Version 1.(2021) (2020); National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Prostate cancer (Version2.(2020) (2020)). While discussing pathogenic/likely pathogenic variants (PV/LPV) with relatives is well-recognized for hereditary cancer risk and management, it is also important for probands (the index person in a family presenting for genetic evaluation) to discuss FH-based recommendations, which are relevant across the three major categories of genetic results (PV/LPV, variants of uncertain significance [VUS], and negative) (National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: colorectal (Version 1.(2021) (2021)); Giri et al. 2020; National Comprehensive Cancer Network Clinical in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: breast ovarian and pancreatic (Version 1.(2021) (2020)); National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Prostate cancer (Version2.(2020) (2020)); Giri et al. 2020). As genetic test results are increasingly being integrated into clinical management for PCA in oncology and urology and confer hereditary cancer implications, genetic results and FH-based recommendations can impact the individual being tested, as well as relatives. Recommendations for the family may include heightened cancer screening or further genetic testing (National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: colorectal (Version 1.(2021) (2021)); Giri et al. 2020; National Comprehensive Cancer Network Clinical in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: breast ovarian and pancreatic (Version 1.(2021) (2020)); National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Prostate cancer (Version2.(2020) (2020)). Thus, communication of genetic information in families of patients with PCA is important to realizing the full impact of genetic evaluation.

Research has shown that genetic counseling plays an important role for facilitating communication of cancer risk for both men and women by improving the accuracy of perceived risk and influencing decisions to inform relatives about inherited cancer risk (Doukas et al. 2004; Matthew et al. 2011; Montgomery et al. 2013; Riley et al. 2012). Communication of PV/LPV results can be difficult for individuals. The information itself is complex, and individuals may fear that disclosing a positive result may adversely impact their relationship with a family member (Douglas et al. 2009; Hallowell et al. 2006). Studies performed primarily in affected BRCA1/2 mutation carriers have described emotional distance, a sense of guilt, and fear of causing harm as barriers to communicating results to family members (Hughes et al. 2002; Hallowell et al. 2005; Daly et al. 2016; Costalas et al. 2003). Studies involving males with positive genetic test results found similar barriers to communicating test results with family members (Suttman et al. 2018; Dean et al. 2020; Giri et al. 2018), although communication of PV/LPV or VUS results is largely understudied.

Given the significant expansion of PCA genetic testing guidelines impacting men and their families (National Comprehensive Cancer Network Clinical in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: breast ovarian and pancreatic (Version 1.(2021) (2020)); National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Prostate cancer (Version2.(2020) (2020)), there is a need to explore communication of genetic test results to family members. The responsibility for sharing genetic test results falls on the proband (Riley et al. 2012; Mendes et al. 2016). The objective of this study was to understand how patients with PCA and a genetic test result of PV/LPV or VUS perceived the genetic testing experience and receipt of results, whether they chose to share their result and physician recommendations with family members, and the implications of sharing the information with their family. Results of the study aim to provide insight into potential barriers and resources needed to promote communication of genetic information and adherence of relatives to recommendations.

Methods

Participant eligibility and recruitment process

Participants were recruited from the genetic evaluation of men (GEM) study at Sidney Kimmel Cancer Center at Thomas Jefferson University Hospital (Giri et al. 2017). GEM is a germline multigene panel testing study for men with or at-risk for PCA. Briefly, men are eligible for the GEM study if they had young age of PCA diagnosis (65 years of age or younger), strong family cancer history, or were African American (Giri et al. 2017). As the time period of the study for this cohort spanned 2014 to 2019, eligibility criteria were expanded to include metastatic disease, Gleason > 7, and T3 or higher stage (Giri et al. 2017). Participants from the GEM study were eligible for this qualitative sub-study if they had PCA and a genetic test result of PV/LPV or VUS, were over the age of 18, lived in the USA, spoke English, and were able to complete a telephone interview. Those who were eligible received an email or a telephone call from the study coordinator with details about the study and how to schedule an interview. Overall, 64 participants from the GEM study were eligible to participate in the current study, 12 of whom consented. The study received expedited approval from the Institutional Review Board at Thomas Jefferson University.

Data collection

Prior to the start of an interview, each participant provided verbal consent. Interviews were conducted by one of two research team members and were guided by a semi-structured interview guide divided into five parts: the genetic testing experience, their interpretation and the impact of their genetic test result, whether they communicated their test results and recommendations to family members, the impact of that communication on family members, advice for other PCA patients and genetic counselors. The “ Theme 1: the genetic testing experience” section included questions about motivation for testing. The “ Theme 2: interpretation and impact of genetic test results” section asked participants to explain their test result to the interviewer and discuss their emotional reaction to the result. The “ Theme 3: deciding whether to communicate results to family members” section included questions about how participants decided which family members to disclose the results to, the timing of the discussion, and the nature of the discussion. The “ Theme 4: impact of results on family members” section included questions about how family members reacted to the information and whether, to their knowledge, any family members pursued their own genetic testing or changed their care management, such as cancer screening. The “Advice for other patients in communicating genetic test results and recommendations to family members” section was open-ended and allowed participants to reflect on their experience and share any tips they felt would be helpful for other PCA patients pursuing genetic testing. Demographic information was also collected for each participant: age at PCA diagnosis, race/ethnicity, family composition, family cancer history, personal history of cancer, time between receiving test results and being interviewed, and gene and mutation name.

Data analysis

First, the interviewer read through each transcript, confirming the accuracy of the transcription. We used a deductive coding approach, such that a study member used a codebook which had been developed in accordance with and to reflect the interview guide, to denote codes and sub-codes throughout the transcript. Codes were compiled from each transcript and organized into recurrent themes. A theme was identified based on the level of pattern among interviews and the meaning in relation to the research questions (Braun and Clarke 2006). For a theme to be considered recurrent, the theme was mentioned by at least in one-third of study participants (Maguire and Delahunt 2017). Themes were reviewed to determine core meaning and, when appropriate, initial themes with certain similarities were joined together as one theme. A second study team member who did not conduct any interviews reviewed the transcript and coded document to ensure all relevant themes were captured. Thematic saturation was achieved after 12 interviews. All analyses were done in NVivo v.10.

Results

Participant characteristics

Among the 12 participants, 1 had a PV/LPV only, 6 participants had PV/LPV and VUS, and 5 participants had only a VUS (Table 1). The majority (92%) of participants identified as Caucasian. Half of respondents reported having coursework beyond a college degree. Almost all participants (92%) were married and had adult children (92%). Half of participants had both first- and second-degree relatives with PCA, one-quarter (n = 3) had no family history of PCA, and one-quarter (n = 3) had either a first or second degree relative with PCA. Table 2 summarizes the genetic test results by participant, recommendations relevant to each participant and their relatives, and whether their relatives had adhered to the recommendations as reported by the participant. Table 3 describes the themes and the main findings from each theme.

Table 1.

Participant characteristics (n = 12)

N %
Age at PCA diagnosis
  50–59 7 58
  60–69 4 34
  70 +  1 8
Race/ethnicity
  White–Caucasian 11 92
  African American 1 8
  Hispanic/Latino 0 0
  Asian 0 0
  Ashkenazi Jewish ancestry 0 0
Marital status
  Married 11 92
  Divorced or separated 1 8
  Widowed 0 0
Educational Attainment
  High School Diploma 1 8
  Some college 1 8
  College degree 4 34
  Graduate studies 6 50
Genetic test results
  VP/LPV only 1 8
  VP/LPV and VUS 6 50
  VUS only 5 42
Cancer family history — FDR1 and SDR2
  FDR affected with cancer 1 8
  SDR affected with cancer 2 16
  FDR and SDR affected with cancer 6 50
  Neither FDR or SDR affected with cancer 3 26
Family composition *
  Children — ages
   Minor (< 18 y.o) children 1
   Adult (> 18 y.o.) children 11
Children — genders
   Daughters 8
   Sons 7
Siblings
   Brothers 10
   Sisters 7
Time from genetic testing to interview
   < 12 months at interview 2 16
  12–23 months at interview 6 50
   > 24 months at interview 4 34
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1First-degree relative; 2Second-degree relative. *Categories were not mutually exclusive

Table 2.

Recommendations for men with PCA and positive or VUS genetic test results and their family members

Participant Genetic result Participant communication style Recommendations for proband Recommendations for family Relatives’ adherence to recommendations
1

CHEK2 (pathogenic mutation);

APC (VUS)

 Limited communication Colonoscopy every 5 years; check in with genetics program once a year for new information or updates Genetic testing for daughter in mid-20 s; PSA for son in late 30 s–40; genetic testing for maternal cousin with breast cancer; colonoscopy age 40 for son and daughter and then every 5 years depending on findings No
2

MUTYH (pathogenic mutation);

ATM (VUS)

 Limited communication Follow treatment plan per doctor; colonoscopy every 5 years PSA for brothers; PSA in late 30 s–40 for sons and nephews; all relatives see dermatology No
3 TP53 (pathogenic mutation) Open communication Evaluation at specialty center for Li-Fraumeni syndrome Cascade testing for sons and other relatives and f/u at specialty center for Li-Fraumeni syndrome No
4

FANCL (pathogenic mutation);

BLM (VUS);

FANCM (VUS)

 Open communication Follow treatment plan as per doctor; check in once a year with the genetics program for new information or updates PSA screening for brother; genetic testing for daughters for preconception counseling One sister had genetic testing; the rest of the family did not
5

BRIP1 (pathogenic mutation);

BRCA2 (VUS); RAD51C (VUS); RAD51D (VUS)

 Closed communication Follow treatment plan as per doctor; check in once a year with genetics program for new information or updates Genetic testing for female relatives (consider breast MRI if BRIP1 +); risk assessment and mammogram for sister; PSA late 30 s–40 for son; genetic testing for preconception counseling Not applicable — not conveyed to family
6

MUTYH (pathogenic mutation);

WRN (VUS)

 Limited communication Colonoscopy every 5 years; check in once a year to genetics program for new information or updates Genetic testing for wife to see if she also carries MUTYH mutation; genetic testing for children age 30 if mom is MUTYH neg or age 18 if mom is positive; PSA for brothers and GT for MUTYH; MUTYH testing for paternal cousins No
7

MUTYH (pathogenic mutation);

ATM (VUS)

 Open communication Colonoscopies as per population level guidelines Genetic testing for daughter for reproductive purposes; risk assessment for sisters; PSA for brothers; colonoscopies at age 50 for relatives No
8 FANCC (VUS) Open communication Follow treatment plan as per doctor; check in once a year to genetics program for new information or updates Sons have PSA in mid-to-late 30 s; other cancer screening per population guidelines PSA risk screening done
9 BLM (VUS) Open communication Follow treatment plan as per doctor Brother and sons: PSA screening; routine mammograms for daughters No
10 WT1 (VUS) Open communication Follow treatment plan as per doctor Paternal half-brothers: PSA screening at a younger age than population guidelines. Women should get regular screening mammograms (starting at age 40) No
11 MLH1 (VUS) Open communication Follow treatment plan as per doctor; check in once a year to genetics program for new information or updates PSA for brothers; siblings discuss kidney cancer screening No
12 BARD1 (VUS) Limited communication Follow treatment plan as per doctor; colonoscopies per population level guidelines; check in once a year to genetics program for new information or updates PSA for brother No
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Table 3.

Dominant themes, descriptions, and findings

Theme Description Findings
Genetic testing experience Motivation for testing

• To better understand their disease

• To understand the impact to their children

• To contribute to the science of PCA
Interpretation and impact of the results How participants understand their results; their reaction when receiving the result • The impact of the cancer diagnosis was greater than the impact of the genetic test result
Communicating with family members Whether/ with whom participants chose to share their test results

• Closeness of the relationship impacted sharing

• Whether the participant felt it was important for a family member to know the result
Impact of the communication How family members reacted to the information; whether family members have pursued recommendations

• Generally favorable or no reaction

• Be cautious of possible overreaction

• Few, if any, family members acted on screening recommendations
Advice for other PCA patients Suggestions from participants for other PCA patients who have genetic testing

• Sharing genetic test results with family members is important

• Be open and honest when sharing genetic test results

• Not all family members will respond similarly; allow reactions to differ
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Theme 1: the genetic testing experience

Participants decided to pursue genetic testing largely for one of three reasons: to better understand their disease, to understand the impact it may have on their children, or to assist the medical community in learning more about the genetic causes of prostate cancer. One participant stated, “I wanted to learn about anything pertaining to my own genetic predisposition, any markers I should be paying attention to, and anything that might inform the treatment of my prostate cancer” (Participant 6). In terms of informing their children, one participant said, “I wanted to know if there was any possibility if there were problems with my genes that maybe I passed to my children” (Participant 1). In terms of assisting the scientific community, one participant explained, “I think it’s interesting and I have cancer. So, I thought it might actually help [find] the genetic therapies and potential technological breakthroughs regarding genetics” (Participant 2). Another participant stated, “You need individuals to participate so you can study this cancer and try to look at peoples’ backgrounds and try to figure out why individual A gets cancer and individual B doesn’t” (Participant 7).

Theme 2: interpretation and impact of genetic test results

Participants who had a positive PV/LPV test result and VUS only results seemed to have appropriate understanding of their results. One participant with a positive result explained, “My understanding was that my [genetic test results] were the type of thing I would want to follow up with my children and possibly grandchildren considering it might be indicative of childhood leukemia and lymphoma” (Participant 3). Another explained, “They mentioned my children could have a chance of being a carrier of the variant” (Participant 4). One of the participants with a MUTYH gene mutation carrier explained, “I had to have two mutations. It was only half of what would be a worse scenario for a particular malignancy in the future” (Participant 6). Participants with VUS seemed to express understanding that their genetic results were inconclusive. One participant said, “But as far as I know, the results of my test were nonconclusive. Didn't say they had a propensity to prostate cancer or protect against prostate cancer” (Participant 9). Another commented, “I have this condition, but I wasn't – I was tested and it's not genetic, or at least doesn't seem to be genetic” (Participant 11).

Some of the participants understood that because of their positive genetic test results, they could possibly benefit from additional cancer screening, although most had not undertaken those screenings at the time of the interview. One of the participants simply stated, “I haven’t had screening for other cancers” (Participant 5). Another explained, “[What] I haven’t done is to be checked for colon cancers through the testing. I did not get that done” (Participant 1). An exception was one participant who explained “The only concern I had was that I hadn’t had a colonoscopy, but I did get one, given everything” (Participant 6).

For the majority of participants, receiving their genetic test results was not nearly as impactful as receiving their cancer diagnosis. One participant stated, “Prostate cancer rocked my world. I’ve been through that rollercoaster and came off that rollercoaster. This [genetic result] pales in comparison” (Participant 6). Another participant stated that their results “Weren’t crushing because I already had cancer” (Participant 1). One other participant stated, “When they told me I had cancer, I was more surprised than these genetic testing [results]” (Participant 7). He also stated, “Treatment with prostate cancer impacted me but results from the genetic testing had no impact” (Participant 7). Another explained, “I figured nobody really has a clean bill of health when it comes to their genetics.”

Theme 3: deciding whether to communicate results to family members

Participants shared their genetic test results with family members in a continuum of communication styles: 7 of the 12 participants shared the test results with all immediate family members (“open communication”), 4 of the 12 shared their results with select family members (“limited communication”), and one man kept his results private from all family members (“closed communication”). The test result — PV/LPV or VUS — was not consistent with a particular communication style. Among those with a PV/LPV test result, all three communication styles were observed; among those with a VUS result, both open and limited styles were observed. One participant with a PV/LPV result who was open to sharing with family members explained, “I did relay that info to my children: the variant could be passed down. It’s called a pathogenic variant whatever and I did relay that information to them” (Participant 4). However, one participant said that strained family relationships made it difficult to talk with some family members. He said, “I reached out [to my father] because he is in close contact with my brothers…I don’t have a real close relationship with my siblings and I wanted to be able to convey the message to them. He could figure out how best to do that” (Participant 6). A participant with a VUS result felt that his result was not worth sharing beyond his immediate family: “If it would have been a genetic defect, I would have – I probably have shared it more broadly with brothers and even cousins or things like that, depending on what it was. But there’s nothing to really tell. I didn’t actively do it. Had there been something, a significant finding, then I would have shared that with my extended family as well” (Participant 12). The one participant who chose not to share his test results with anyone, who had a PV/LPV result, said, “Why talk about it? Just go on with your life” (Participant 5). He went on to say, “As much as [cancer] is around, in my circle, no one sits to talk about cancer. It is like you sweep things under the rug.”

Theme 4: impact of results on family members

Participants reported that the conversations with their family members about their results were largely informational and uneventful. Even men with PV/LPV test results did not report a strong emotional impact on their family members. In relation to communicating with their partner, one participant believed that this was “Another data point to converse about and it was good to know” (Participant 6). In regard to one of the participant’s partners, he explained, “She was more taken by the fact that I had cancer than she did about the genetic testing and all. She took it more that it could be passed onto our children” (Participant 1). Participants with a VUS result had similar reactions. One said, “It [the discussion] went great [laughs] because there wasn't anything to pass onto them” (Participant 10). Only one participant felt that his wife overreacted to his result, commenting, “My wife was like, ‘This must have some dire consequence for the children," because why else would I have had cancer?’ It [the test result] means just that, it's of unknown consequence. But in her mind, I don't think she processed it. She gave it weight that maybe it didn't deserve” (Participant 12).

As far as participants were aware, most of the family members who were told of the participants’ genetic results had not undergone genetic testing or sought cancer screening. With respect to children, one participant who had a PV/LPV result explained that “I feel it is really important for them to follow up on this. They probably do too, but their focus is not on that so much. They are working hard to make success of their jobs and it just hasn’t come to the floor yet” (Participant 3). Another participant with a PV/LPV result explained, “I encouraged [my child] to go to [genetic counseling], but she never went” (Participant 7). A participant with a VUS said, “Nobody's really changed their lifestyle because they haven't had any symptoms” (Participant 11).

Advice for other patients in communicating genetic test results and recommendations to family members

In addition to research questions, participants were also asked an open-ended question about their advice for patients when discussing genetic test results with family members. Some participants expressed how one shares results depends on the person and family. One stated, “No one knows what it’s like to be in somebody else’s family behind closed doors” (Participant 1). Most of the participants expressed the importance of sharing information with family members, even if the conversations can be difficult. One stated, “Information is valuable. Let that person deal with what you told them. It is better to have the information so they can decide what to do with it” (Participant 4). Another participant commented, “Make [sure] the family members are comfortable with it. It is not something that feels terribly threatening to them” (Participant 3). Another participant suggested “Be open and honest, involve the family members from the beginning and that’s helpful because they felt part of it instead of being a result of it” (Participant 10). One participant noted that different family members may respond differently to test results. The participant explained, “Think in advance how this might impact your siblings or children, how to present this [the results] to them, and how they perceived things. Also, reassure them that the world is not ending here…Sometimes things impact other people a lot more than it impacts you. What I’ve found out by life is that people can look at the same thing and see totally different things” (Participant 7).

Discussion

As the role of PCA germline multigene panel testing has significantly increased, communication of germline test results and recommendations to family members must be understood to facilitate cascade testing, accurate communication of test results, cancer screening, and cancer risk assessment (National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: colorectal (Version 1.(2021) (2021)); Giri et al. 2020; National Comprehensive Cancer Network Clinical in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: breast ovarian and pancreatic (Version 1.(2021) (2020)); National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Prostate cancer (Version2.(2020) (2020)); Riley et al. 2012; Mendes et al. 2016). While communication of PV/LPV results is of high priority, accurate communication of VUS genetic test results, as well as negative test results, within families is also important to avoid propagating misinformation and to disseminate FH-based recommendations for cancer screening or further genetic testing in the family (Giri et al. 2020; Montgomery et al. 2013). FH-based recommendations may also be important for men who receive negative results (National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: colorectal (Version 1.(2021) (2021)); Giri et al. 2020; National Comprehensive Cancer Network Clinical in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: breast ovarian and pancreatic (Version 1.(2021) (2020)); National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Prostate cancer (Version2.(2020) (2020)). This study provided insight into how those with PV/LPV or VUS genetic test results perceive the genetic testing experience, whether they communicate their results to family members, and how family members handle the information. Furthermore, the study also highlights communication among patients with PCA who had PV/LPV or VUS in a spectrum of genes, where guideline-based recommendations for cancer screening or risk reduction may be relevant for PCA and non-prostate cancers.

All of the participants felt that the diagnosis of PCA was more significant than their genetic test results. In our sample, eight of the participants shared their results with all relevant family members, and three shared results with selected family members. Only one participant chose to not disclose his test results to anyone in his family. Importantly, participants with PV/LPV had not undergone screening for additional cancer risks identified from their genetic testing, which is also important to reinforce. For participants with VUS, relatives may misunderstand the result and overreact, which again points to the need for accurate communication of information as seen from one of our participants. These results point to a critical need to further study and develop effective communication strategies for men with PCA and their families to facilitate adherence to recommendations.

There may be multiple factors that impact communication of genetic test results and recommendations to family members. Differences exist in the likelihood of sharing information with relatives of the opposite sex, such that family members feel most comfortable discussing their test results with members of the same sex (Montgomery et al. 2013). Prior studies have reported that a third of women who underwent BRCA1/2 testing did not provide genetic test results to their brother(s) and one-quarter of women did not inform their fathers (Patenaude et al. 2006). Another study of women with BRCA1/2 mutations showed that the majority of participants were more likely to share genetic test results with their children, female relatives, and less likely to discuss with male relatives (Montgomery et al. 2013). A study involving focus groups of men with PCA reported that men in general felt that genetic testing was beneficial for themselves and their families but were unaware of hereditary cancer risks to female relatives (Greenberg et al. 2020). Therefore, the influence of gender in men’s communication of genetic information is now also important to study.

Factors such as stage of life, level of maturity, and emotional state of relatives can be concerning when people are faced with discussing genetic results, particularly to children (Sharff et al. 2012). Interestingly, none of the participants in this study described concerns of guilt, shame, or fear of being mutation carriers and causing harm as barriers to communicating results to family members. Despite this, there were still some challenges uncovered in disclosing genetic test results to family members such as communication to a limited number of family members, warranting more research into why men are hesitant about sharing results. Research among female BRCA1/2 mutation carriers reported that the process of communicating genetic results was distressing, particularly if women were the first to be tested in a family (Smith et al. 1999). Additional research among female BRCA1/2 mutation carriers demonstrated that younger women were more likely to disclose their genetic test results to their parents than older women (Patenaude et al. 2006).

This study highlights the difficulties between communication of genetic test results by probands and adherence of relatives to recommendations. Upon receipt of genetic test results, 11 out of 12 of the participants discussed their results with at least one or more family members. Despite this communication, few relatives in pursued their own genetic testing and additional cancer screenings. One potential explanation may be that the recommendations were not pertinent to a relative’s stage of life, such as a child who does not undergo preconception counseling because the child is not of childbearing age or does not intend to have children. Another potential explanation is that none of the participants had mutations in commonly recognized genes, such as BRCA1/2, and therefore, family members may have different perceptions of the participants’ genetic test results and false reassurance of cancer risk. This may also be relevant for participants who had VUS results only, where FH-based recommendations may apply to men and their families (National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: colorectal (Version 1.(2021) (2021)). Furthermore, it is unclear whether recommendations for screenings that were directly applicable to relatives now due to age or other NCCN criteria for cancer screening. Factors such as misunderstanding of the results, lack of ability to communicate the implications of genetic testing to family members, and follow-up care coordination also need to be explored. Written materials and other communication aids may be helpful to men in discussing their genetic results and recommendations with their families, particularly in the multigene testing era, and deserve further study.

There are some considerations to note. The length of time between receipt of genetic test results and interview varied, such that some men had more time than others to process their test results and share them, as well as remember their experience during the interview. The study also describes communication among men with PV/LPV in genes directly related to PCA and in genes without a current direct link to PCA. These differences in relation to a PCA diagnosis may impact communication of results to family members, which is another area to explore in further detail. The actions of family members, whether it was to seek genetic testing or cancer screening, were not verified and are the reflections of the participants. The majority of the sample was well educated and lacked patient diversity, reflecting the population of men who had undergone genetic testing as part of the GEM study. Furthermore, some of the GEM study was conducted in a time prior to the current NCCN Guidelines for PCA germline testing for men with metastatic or higher risk disease (National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: colorectal (Version 1.(2021) (2021)); Giri et al. 2020; National Comprehensive Cancer Network Clinical in Oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: breast ovarian and pancreatic (Version 1.(2021) (2020)); National Comprehensive Cancer Network Clinical Guidelines in Oncology (NCCN Guidelines®): Prostate cancer (Version2.(2020) (2020)). While eligibility criteria were expanded during the course of the study to include metastatic and high-risk disease, the full study cohort may not be completely aligned with current germline testing criteria. Therefore, the ability to extrapolate the results of our study to the currently indicated population of individuals with PCA who meet genetic referral criteria may be limited. Efforts to study communication of genetic results among minority and diverse populations continue to be needed.

In summary, this study has shown that participants with PCA and with genetic test results of PV/LPV or VUS had a favorable experience with genetic testing. Almost all commented that the shock of a PCA diagnosis was greater than a positive test result. All but one participant shared their test results and recommendations to varying degrees with their family members. While most participants reported being open to sharing their results, further research is needed to facilitate appropriate communication and adherence to recommendations for patients and their families.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 14 KB) (14.4KB, docx)

Declarations

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