Abstract
We describe factors influencing patient decisions to share positive cancer genetic test results with family members. We focused on patients who were diagnosed with several different cancer types but did not have a family history that was suggestive of an inherited risk. Participants were recruited from Mayo Clinic and had been recently diagnosed with cancer. An 80+ gene panel was performed. Before receiving genetic test results, patients completed a 49-item survey on their intent to share their results with relatives. 1,721 (57.7%) of 2,984 individuals who elected to pursue genetic testing completed the survey. Most patients planned to share cancer-related genetic results with a spouse or partner (97.0%), at least one adult child (92.2%), at least one sibling (86.2%), and with at least one parent (70.3%). Familial support scores and familial communication scores were predictive of intent to share cancer-related genetic test results. Our data highlight differences in family communication capacity and support that are important for clinicians to consider when supporting patients who wish to share cancer-related genetic test results with family members. Our data point to several potential interventional strategies that might increase the likelihood of cancer-related genetic test results being shared with family members at risk.
Introduction
Genetic testing can provide information about inherited cancer risk to the individual tested but also to their family members. Sharing genetic risk information with family members has a number of benefits, including alerting family members to risks they may not have known about previously and providing them with health information that can inform decisions about their own health. Sharing could result in earlier disease detection and implementation of strategies for reducing disease risks.
Despite these potential benefits, there are multiple challenges in sharing genetic risk information within families. Previous studies have identified multiple factors influencing whether individuals share genetic information with family members (Burns et al., 2016; Li et al., 2018; Nycum G, Avard D, Knoppers BM, 2009). These factors include but are not limited to: perception that the information is relevant, frequency of contact, emotional closeness, viewing communication as a means to social support, feeling a sense of responsibility to inform family members of information that is relevant to their health, desire to protect family members from potentially distressing information, family dynamics, and relationships within the family (Barsevick et al., 2008; Finlay et al., 2008; Gaff et al., 2007; Lafrenière et al., 2013). For these reasons and others, many individuals choose not to share their genetic risk information with some family members, leaving them in the dark about potential health risks and without the opportunity to implement risk reduction strategies.
Trends in cancer genetic testing suggest that much greater numbers of individuals are receiving genetic risk information, including individuals who do not have a clear family history or other reasons to suspect an inherited risk factor (Giri et al., 2019). In addition to the general challenge of communicating genetic risk information, there are additional challenges associated with sharing cancer-related risk information. For example, a belief in “positive thinking” has been found to be associated with less communication about cancer. Participants who believe in positive thinking often feel that expressing pain, sadness, and fear of cancer weakens the body’s ability to fight cancer and recover (Zhang & Siminoff, 2003). Additionally, individuals who struggle to accept and cope with their own cancer diagnosis are significantly less likely to communicate genetic risk information to family members (Blood, Dineen, Kauffman, Raimondi, & Simpson, 1993). Additionally, cancer-related stressors can place additional strains on family relationships, which can in turn negatively impact family communication (Beach, 1996).
While prior studies have focused on high-risk patients identified for genetic testing because of family history or early age of disease onset, there is little data describing factors that influence the sharing of genetic information by individuals who are not at high-risk as a result of a family history that is suggestive of an inherited risk factor. Identifying factors influencing familial communication about inherited risk factors can help clinical oncologists and other cancer specialists to identify patients who may need additional support in sharing their results with family members, thereby increasing the numbers of individuals who are made aware of a previously unknown disease risk.
The purpose of the study we report was to describe factors influencing patient decisions to share cancer-related genetic test results with family members. Of note, the study examined the views of cancer patients who were recently diagnosed with one of several different cancer types. Importantly, we were able to examine these factors independent of potential costs associated with genetic testing, as family variant testing was provided to at-risk family members at no cost.
Methods
This study was approved by the Mayo Clinic IRB (#18–000326). All individuals in this study agreed to participant and provided informed consent. Prior to providing consent, participants were asked to watch a video explaining hereditary cancer risk and the pros and cons of genetic testing. This video included an explanation of familial cancer risk and the potential medical implications of identifying a pathogenic mutation. While this video explained familial cancer risk, it did not discuss or emphasize the importance of sharing test results with at-risk family members, nor did the video mention potential disruptions of familial relationships as a potential harm that might be associated with genetic testing. It is possible that individual clinicians may have discussed these and other familial implications of cancer-related genetic testing or counseled participants about the potential value of genetic testing to family members. At the time of consent, participants were informed that if they received results indicating a pathogenic mutation, their at-risk relatives would be offered site-specific genetic testing at no cost.
Participants
Participants in this study enrolled in the Interrogating Cancer Etiology using Proactive (Genetic) Testing (INTERCEPT) study. Participants were at least 18 years of age with an active diagnosis of cancer in one or more of the following sites: bladder, breast, cholangiocarcinoma, CNS/brain, colorectal, endometrial, esophageal, gastric, head/neck, hepatocellular, lunch, melanoma, ovarian, pancreas, prostate, renal, sarcoma, or small bowel. Patients were not selected based on cancer stage or family history of cancer. Patients who had prior germline cancer genetic testing within the last 24 months were excluded.
Participants were recruited from clinics in Medical Oncology, Radiation Oncology, Gynecology, Surgery, and Genetics across the Mayo Clinic Health system, including clinics in Phoenix, AZ; Jacksonville, FL; Rochester, MN; and Eau Claire, WI. Eligible patients were identified from clinical scheduling calendars and physician referrals. Study enrollment occurred from April 2018 through March 2020.
Study Procedures
Cancer genetic testing was performed using a Clinical Laboratory Improvement Amendments (CLIA) certified, commercially available, 80+ gene panel available through Invitae. All patients found to have a pathogenic mutation were offered an in-person genetic counseling appointment. In cases where participants were not available to receive their genetic test results in person, results were reported by phone or postal mail. Participants’ oncologists were notified about genetic test results in parallel, regardless of whether the result indicated a pathogenic variant. Patients with no pathogenic mutations or variants of unknown significance received their test results via a portal message or phone call. The at-risk relatives of participants found to have a pathogenic mutation were offered site-specific genetic testing at no cost. At-risk relatives of participants found to have a pathogenic mutation were notified through study participants and were not notified by the study team.
Survey
Participants were asked to complete a brief survey following their decision to have genetic testing (and in all cases, before receiving their genetic test results). This survey included several items and measures from previous studies, including a cancer communication measure (Mesters et al., 1997) and a familial support scale (Procidano, Mary E, and Heller K). The 49-item survey examined participants’ intent to share genetic test results with different family members, perceived barriers to sharing their results, family communication patterns, anticipated reactions of family members to receiving health information, and perceived usefulness of genetic information to family members. Demographic variables were collected during enrollment and from the electronic health record.
Participant intent to share with family members was assessed by a survey question that read “I am planning to share my results with…” and a list of family members that included the following options: my spouse or partner, my father, my mother, at least one of my brothers, at least one of my sisters, at least one of my adult sons, at least one of my adult daughters. Each option listed the following response choices: “Yes,” “No,” “Unsure,” and “Not Applicable.”
Data Collection
For the first seven months of data collection, a study coordinator called participants approximately one week after they consented to receive genetic testing and collected survey responses by phone. Data were entered into a REDCap database. In the eighth month of data collection, we began distributing the survey to participants via a web-based REDCap survey that was sent to participants by email approximately one week following consent to the study. No repeat email invitations were sent to survey non-responders, but a study coordinator made phone calls to those individuals who did not respond to the survey link and attempted to collect their survey responses at that time.
Data Analysis
Data were analyzed using JMP Pro 14 (2018 SAS Institute Inc). Means, medians, standard deviations, and ranges were calculated for continuous variables, and frequencies and percentages were calculated for categorical variables. Bivariate associations were calculated using Chi-Square, Wilcoxon Rank Sum, and Fishers Exact Test, as appropriate. P-values of 0.05 or lower were considered statistically significant.
Familial support scores were computed for each participant by counting the number of favorable responses to the 11 items included in the survey (range = 0–11) All items were phrased positively (favorable response = “Yes”), with the exception of items 3 and 4 which were reverse coded in analysis (favorable response = “No”).
Familial communication scores were computed by summing responses to the seven communication items. Items were coded as follows: Strongly agree = 1, Agree = 2, Disagree = 3, Strongly Disagree = 4. All items were worded negatively, with the exception of item 4 which was reverse coded. Scores ranged from 7–28, with higher scores indicating greater amounts of health-related communication among family members.
We examined the proportions of patients who indicated an intent to share genetic test results with an at-risk family member. Participants who indicated that they did not have a living family member in a particular category (e.g. no living parent) are not included in the percentages we report.
Results
Of the 3,004 participants who met eligibility criteria and were invited to participate in the INTERCEPT study, 2,984 responded to the study invitation and consented to have genetic testing. Among consenting patients, 1,721 completed the survey (resulting in a 57.7% completion rate). Table 1 summarizes demographic characteristics of individuals who participated in the INTERCEPT study, comparing those who completed the survey to those who did not complete the survey. Our survey sample was comprised largely of white (93.5%) and older individuals (mean age = 61.8), with slightly more men represented than women (52.5% vs. 47.5%). A survey non-completer analysis was performed and found that individuals who did not complete the survey were more likely to be non-white (p<0.0001) and Hispanic or Latino (<0.0001).
Table 1.
Demographics of sample of cancer patients who received genetic testing throught the INTERCEPT study and analysis of survey non-completion bias
| Survey Completers | Survey Non Completers | All | p-value | |
|---|---|---|---|---|
|
| ||||
| Race | <0.0001 | |||
| White | 1593 (93.5) | 1075 (86.2) | 2668 (90.4) | |
| Other | 110 (6.5) | 172 (13.8) | 282 (9.6) | |
| Ethnicity | <0.0001 | |||
| Not Hispanic or Latino | 1649 (95.8) | 1166 (92.3) | 2815 (94.3) | |
| Hispanic or Latino | 72 (4.2) | 97 (7.7) | 169 (5.7) | |
| Gender | 0.53 | |||
| Male | 904 (52.5) | 678 (53.7) | 1582 (53.0) | |
| Female | 817 (47.5) | 585 (46.3) | 1402 (47.0) | |
| Age | 0.07 | |||
| Mean (SD) | 61.8 (12.0) | 61.0 (12.5) | 61.4 (12.2) | |
| Range | 19 – 85 | 18 – 82 | 18 – 85 | |
| Age | 0.17 | |||
| 19–29 | 29 (1.7) | 24 (1.9) | 53 (1.8) | |
| 30–39 | 73 (4.2) | 59 (4.7) | 132 (4.4) | |
| 40–49 | 173 (10.1) | 154 (12.2) | 327 (11.0) | |
| 50–59 | 348 (20.2) | 269 (21.3) | 617 (20.7) | |
| 60–69 | 601 (34.9) | 384 (30.4) | 985 (33.0) | |
| 70–79 | 468 (27.2) | 355 (28.1) | 823 (27.6) | |
| ≥80 | 29 (1.7) | 18 (1.4) | 47 (1.6) | |
| Cancer Site | NA | |||
| Bladder | 62 (3.6) | 44 (3.5) | 106 (3.6) | |
| Breast | 213 (12.4) | 177 (14.0) | 390 (13.1) | |
| Cholangiocarcinoma | 82 (4.8) | 75 (5.9) | 157 (5.3) | |
| CNS/brain | 71 (4.1) | 48 (3.8) | 119 (4.0) | |
| Colorectal | 188 (10.9) | 184 (14.6) | 372 (12.5) | |
| Endometrial | 63 (3.7) | 35 (2.8) | 98 (3.3) | |
| Esophageal | 18 (1.0) | 35 (2.8) | 53 (1.8) | |
| Gastric | 24 (1.4) | 24 (1.9) | 48 (1.6) | |
| Head/neck | 113 (6.6) | 87 (6.9) | 200 (6.7) | |
| Hepatocellular | 19 (1.1) | 24 (1.9) | 43 (1.4) | |
| Lung | 71 (4.1) | 45 (3.6) | 116 (3.9) | |
| Melanoma | 161 (9.4) | 84 (6.7) | 245 (8.2) | |
| Other | 23 (1.3) | 12 (1.0) | 35 (1.2) | |
| Ovarian | 70 (4.1) | 52 (4.1) | 122 (4.1) | |
| Pancreas | 152 (8.8) | 106 (8.4) | 258 (8.6) | |
| Prostate | 232 (13.5) | 126 (10.0) | 358 (12.0) | |
| Renal | 78 (4.5) | 59 (4.7) | 137 (4.6) | |
| Sarcoma | 74 (4.3) | 41 (3.2) | 115 (3.9) | |
| Small bowel | 7 (0.4) | 5 (0.4) | 12 (0.4) | |
Familial support scores, familial communication scores, and intent to share with at least one at-risk relative across demographic variables are shown in Table 2. Familial support scores did not differ across race, but did differ across ethnicity, gender, and age. Both familial support scores and familial communication scores were observed to be higher in Hispanic or Latino patients, females, and younger patients (ages 19–29 and 40–49).
Table 2.
Familial support scores, family communication scores, and intent to share across demographics of those who participated in the INTERCEPT study and who completed the survey
| Familial Support | Familial Communication | Intend to Share with At Least One Family Member |
||
|---|---|---|---|---|
| Mean (SD) | Mean (SD) | Yes - N (%) | No - N (%) | |
|
| ||||
| Race | ||||
| White | 9.3 (2.4) | 21.3 (3.1) | 1565 (93.5) | 28 (93.3) |
| Other | 9.3 (2.3) | 20.9 (3.3) | 108 (6.5) | 2 (6.7) |
| Ethnicity | ||||
| Not Hispanic or Latino | 9.3 (2.4) | 21.2 (3.1) | 1619 (95.7) | 30 (100) |
| Hispanic or Latino | 9.8 (1.7) | 21.8 (3.3) | 72 (4.3) | 0 (0) |
| Gender | ||||
| Male | 9.2 (2.4) | 21.3 (3.0) | 886 (52.4) | 18 (60.0) |
| Female | 9.4 (2.3) | 21.2 (3.2) | 805 (47.6) | 12 (40.0) |
| Age (Years) | ||||
| 19–29 | 9.6 (2.5) | 22.6 (3.2) | 29 (1.7) | 0 (0) |
| 30–39 | 9.1 (2.3) | 21.8 (3.0) | 73 (4.3) | 0 (0) |
| 40–49 | 9.5 (2.3) | 21.4 (3.3) | 172 (10.2) | 1 (3.3) |
| 50–59 | 9.2 (2.3) | 21.2 (3.1) | 342 (20.2) | 6 (20.0) |
| 60–69 | 9.3 (2.4) | 21.2 (3.0) | 592 (35.0) | 9 (30.0) |
| 70–79 | 9.4 (2.3) | 21.3 (3.2) | 454 (26.8) | 14 (46.7) |
| ≥80 | 9.0 (2.5) | 20.2 (3.1) | 29 (1.7) | 0 (0) |
Mean familial support scores and mean familial communication scores are shown across individuals who reported that they intend to share their cancer-related genetic test results, those who did not intend to share, and those who reported that they were unsure whether they would share their results with various family member types in Table 3. Mean familial support scores and mean familial communication scores were highest in those who intended to share with family members. Patients who intended to share their genetic test results with a family member had higher familial support scores (mean = 9.5) and familial communication scores (mean = 21.5) than those who did not intend to share (mean = 8.7 and 20.2, respectively) (Table 3).
Table 3.
Mean familial support and communication scores by intent to share cancer-related genetic test results
| Intend to Share |
|||
|---|---|---|---|
| Yes | No | Unsure | |
|
| |||
| Mean Familial Support Scores | Mean (SD) | Mean (SD) | Mean (SD) |
|
| |||
| Intend to share with … | |||
| My spouse or partner | 9.4 (2.2) | 8.0 (2.6) | 7.5 (3.0) |
| My father | 9.5 (2.2) | 9.0 (2.4) | 8.4 (2.6) |
| My mother | 9.5 (2.2) | 8.8 (2.5) | 8.5 (2.9) |
| At least one of my brothers | 9.4 (2.3) | 9.0 (2.5) | 8.8 (2.4) |
| At least one of my sisters | 9.5 (2.2) | 8.9 (2.7) | 8.4 (2.8) |
| At least one of my adult sons | 9.6 (2.1) | 8.7 (2.8) | 8.5 (2.7) |
| At least one of my adult daughters | 9.6 (2.0) | 8.2 (3.1) | 8.6 (2.5) |
| Intend to Share |
|||
| Yes | No | Unsure | |
|
| |||
| Mean Communication Scores | Mean (SD) | Mean (SD) | Mean (SD) |
|
| |||
| Intend to share with … | |||
| My spouse or partner | 21.3 (3.1) | 19.6 (3.6) | 20.5 (3.5) |
| My father | 21.7 (3.0) | 20.6 (3.1) | 19.7 (3.3) |
| My mother | 21.7 (3.1) | 20.5 (3.0) | 20.0 (3.3) |
| At least one of my brothers | 21.5 (3.1) | 20.1 (3.3) | 20.8 (2.8) |
| At least one of my sisters | 21.5 (3.0) | 20.5 (3.5) | 20.0 (3.0) |
| At least one of my adult sons | 21.4 (3.1) | 20.2 (3.5) | 19.7 (3.3) |
| At least one of my adult daughters | 21.4 (3.0) | 20.0 (3.7) | 20.4 (3.5) |
Intent to share genetic test results with family members varied across family member types, e.g. spouse, parent, sibling, child (Table 4). Most patients indicated that they planned to share their genetic test results with a spouse or partner (97.0%). Most patients also indicated that they planned to share their cancer-related genetic test results with at least one adult child (92.2%) and with at least one sibling (86.2%). Fewer patients intended to share their genetic test results with a parent (70.3%).
Table 4.
Multi-variable logistic regression models predicting participants’ intent to share cancer-related genetic test results with at-risk relatives
| Relationship to Proband |
||||
|---|---|---|---|---|
| Adult Child | Sibling | Parent | At-Risk Relative** | |
|
| ||||
| Counts | N (%) | N (%) | N (%) | N (%) |
|
| ||||
| N participants with blood relative | 1298 | 1495 | 728 | 1657 |
| Intend to share (predicted outcome) | 1197 (92.2) | 1288 (86.2) | 512 (70.3) | 1561 (94.2) |
| Do not intend to share*** | 101 (7.8) | 207 (13.8) | 216 (29.7) | 96 (5.8) |
|
| ||||
| Predictors of Intent to Share | OR (95% CI) | OR (95% CI) | OR (95% CI) | OR (95% CI) |
|
| ||||
| Age (per 1 year decrease) | 0.98 (0.96 – 1.00) | 1.02 (1.00 – 1.03)* | 1.11 (1.09 – 1.14)** | 1.01 (0.99 – 1.04) |
| Gender | ||||
| Male (referent) | REF | REF | REF | REF |
| Female | 2.15 (1.33 – 3.48)* | 1.94 (1.40 – 2.70)** | 1.38 (0.94 – 2.03) | 2.06 (1.24 – 3.42)* |
| Race and Ethnicity | ||||
| Other | REF | REF | REF | REF |
| Non-Hispanic White | 0.86 (0.42 – 1.75) | 1.39 (0.87 – 2.23) | 1.49 (0.83 – 2.70) | 0.89 (0.39 – 2.00) |
| Communication Score | 1.10 (1.02 – 1.19)* | 1.13 (1.06 – 1.19)** | 1.09 (1.03 – 1.18)* | 1.11 (1.02 – 1.21)* |
| Support Score | 1.17 (1.08 – 1.28)** | 1.04 (0.97 – 1.11) | 1.13 (1.03 – 1.18)* | 1.15 (1.06 – 1.26)* |
p < 0.05,
p < 0.001
At-risk relative is defined as adult child, sibling, or parent
Consists of participants who indicated they do not intend to share and those indicated they are unsure
Predictors of intent to share cancer-related genetic test results are described in Table 4. Familial support scores and familial communication scores were significant predictors of sharing cancer genetic test results with both blood (which we define as parents, siblings and adult children) and non-blood relatives (which define as a spouse or partner). Additionally, younger participants were more likely to share with parents and female participants were more likely to share with both siblings and adult children. Predictors of intent to share with a spouse or partner were also assessed
Discussion
Our data highlight important differences in family communication capacity and family support, two factors that are important for clinicians to consider when supporting patients who wish to communicate their genetic test to family members who may be at risk. Our data provide a number of insights about whether individuals intended to share cancer-related genetic information with their family members and which family members they intended to share with. Our data also provide insights about specific types of patients that might benefit most from additional support in the communication of test results to family members and point to potential interventional strategies that might increase the likelihood of their cancer-related genetic test results being shared with those at risk. Unique features of this study include the inclusion of individuals with multiple cancer types as well as the availability of genetic testing for at-risk family members at no cost.
Three overarching themes emerged from our data. First, our findings indicate that among cancer patients in our study, intent to share genetic test results with family members is generally very high. In fact, our results suggest that in this study population, the intent to share may be higher than has been reported previously. While our results indicate that 94.2% of participants intended to share their results with at least one first-degree relative, Julian-Reynier and colleagues reported that among respondents who had at least one living first-degree relative, 8.6% would inform none, 33.2% would inform at least one of them, and 58.2% would inform all of them (Julian-Reynier et al., 2000). Di Petrio and colleagues report that among women with a positive BRCA test result, 49% intended to inform their offspring, and 27% intended to inform their spouse/partner (Di Petrio et al., 2020). In another study, Bednar and colleagues reported that 70.3% of first-degree relatives had been informed of cancer-related genetic test results indicating a pathogenic variant (Bednar et al., 2020). More research is needed to assess whether there is a potential gap in the “intent to share” and “actual sharing.”
Second, our results suggest that patients’ intent to share cancer-related genetic test results with family members varies based on the type of family relationship that may exist between the participant and others. For example, we found that cancer patients were less likely to share with parents in comparison to siblings and adult children. While an intent to share with at least one at-risk family member was generally high in this population, the number of individuals who intended to share with all of their living at-risk parents, siblings, and adult children was much lower. This finding is concordant with a systematic review of communication of genetic risk information within families (Wiseman, Dancyger, and Michie, 2010), which found that family sharing of cancer-related genetic information is influenced by individual beliefs about the desirability of communicating genetic risk and by closeness of relationships within the family.
Participants in our study were least likely to share their genetic test results with parents. Possible explanations for this finding are that patients did not see benefit in their parent pursuing clinical genetic testing or feared that sharing their cancer-related genetic test results would cause unnecessary distress and worry. While it may not seem beneficial to share genetic test results with older parents, one consideration is that older individuals in some families serve as the keepers of important family medical history information and/or play an important role in communication within the family (Koehly et al., 2009). This suggests that sharing cancer-related genetic test results with parents may facilitate broader family sharing and support more accurate family disease histories.
Third, we identified several predictive variables associated with individuals’ intent to share with family members. Some of these variables are potential targets of future interventions aimed to improve family communication. There were several predictive factors associated with individuals reporting they do not intend to share genetic information with family members, including low familial communication and familial support scores. This finding is concordant with prior work, which has identified a correlation between lower familial support and poorer familial communication of genetic information (Stuttgen et al., 2020). One potential interventional strategy may be to assess an individual’s familial communication and familial support scores at the time genetic or genomic testing is ordered, to identify individuals who may need more support in sharing their cancer-related genetic test results with family members. This could be done using a formal instrument, such as the ones employed in this study, or could be done less formally. Using a shortened version of the instruments used in this study (Mesters et al., 1997; Procidano & Heller, 1983) may be more appropriate for use in clinical practice.
The familial communication and support scores calculated in this study included items that assessed how participants expected family members to respond if they shared genetic risk information. Thus, participants with lower familial communication and familial support scores were those who expected poorer reactions from family members. This finding is concordant with prior studies (Mesters et al., 1997; Procidano & Heller, 1983). While communicating genetic risk to relatives has the potential to allow individuals to receive emotional support from relatives and strengthen family relationships (Hogson & Gaff, 2013), communication of genetic risk information also has the potential to cause both individuals and family members emotional distress and negatively impact family relationships if family members are informed of a risk they do not wish to know or discuss (Fernandez et al., 2012). Communication with family members also may reduce anxieties related to disclosure or reduce tensions generated by secrecy (Rowland & Metcalfe, 2012).
Interventional strategies to reduce barriers to communication associated with poor familial support might include health professionals providing more family-centered care, such as the family-centered care model discussed by Daly, 2015. Motivational interviewing might also improve individuals sharing behaviors with at-risk family members and has been proposed by de Geus et al., 2016. Additionally, some genetic counselors and other providers prepare individuals a results letter that can be given to family members (Forrest et al., 2010). These letters include an explanation of the individual’s genetic test results, a summary of what those results may mean for family members, and recommended actions for family members to take. While this strategy lessens the burden on the participant because it does not require the ability to explain genetic test results, it still requires that the participant initiate contact with at-risk relatives and share personal health information. Another interventional strategy is for providers to participate in the communication process of sharing genetic information with family members. Prior studies (Forrest et al., 2010; Roggenbuck et al., 2015; Green et al., 1997) have utilized phone or video calls in which the provider, individual, and family member(s) are all present and can talk about the result and recommended actions.
While it is important to respect an individual’s autonomy and wishes about whether and how they share their genetic risk information, it is also important for individuals to understand the implications their genetic risk information has on their family members, as well as the potential benefits of sharing that information. Another potential interventional strategy may be to provide all individuals with standardized information about what their cancer genetic test results may mean for their family members, the importance of sharing with family members, as well as resources individuals can access if they do not feel comfortable, or are unsure about, sharing genetic information with family members.
Limitations
This study collected data on participants’ intent to share cancer-related genetic test results with family members, but it is unknown whether individuals actually shared genetic information with their family members, and which family members they shared with. Also, our data does not include the number of siblings or children individual’s had, and our aggregate measures of family support and family communication to do not capture the uniqueness of each family relationship. Individual’s thought processes and reasoning behind their intent to share or not share are also unknown. Our survey did not distinguish between an intent to share positive test results verses neutral/nonactionable test results.
It is possible that participants in our study did not fully understand the relevance of their test results to their family members, or the potential for relatives to mitigate their disease risk by partaking in cancer screening or prevention strategies after learning risk information. Additionally, the INTERCEPT study lacked a standardized process for counseling participants about the importance of sharing cancer-related genetic test results with at-risk family members.
Interactions among family members prior to their participation in this study were not assessed and may have influenced participants’ intent to share with family members. It is unknown how many participants began discussing their interest in genetic testing with family members prior to their participation in the INTERCEPT study. Some participants may have indicated to their family members that they were considering genetic testing, and then met with our study team to discuss genetic testing options. If this was the case, the initial reactions of those family members could have influenced participants’ subsequent intent to share (e.g. individual’s may have reported an intent to share genetic results following a positive initial interaction with a family member). We do not know if or how prior experiences with cancer in the family impact family communication. Furthermore, we do not know if participants assumed that if they were to share their genetic test results with one or more family members those individuals would then go on to share the results with others at risk (e.g. that sharing test results with one parent would result in the other parent learning about the result).
Lastly, our sample consisted largely of older, white individuals. Our survey non-completer analysis found that individuals who did not complete the survey were more likely to be non-white and Hispanic or Latino. More research is needed to understand why non-white and Hispanic or Latino individuals were less likely to participate as well as to assess intent to share cancer-related genetic test results with family members in individuals of more diverse backgrounds.
Conclusion
As genetic testing panels are integrated into a variety of cancer care settings, patient support needs related to the interpretation and sharing of genetic test results with at-risk family members must be considered. Although this is something that is routinely considered in the context of families with a family history of cancer, and often results in genetic counselors and others being integrated into clinical care, meeting the support needs of larger numbers of patients who may receive cancer-related genetic risk information in in future will require innovative strategies to ensure patients have adequate support.
Future work is needed to develop and assess interventions on patient understanding of the benefits of both sharing genetic information with family members and family members pursing preventative screening. Future work is also needed to develop and assess interventions to improve provider understanding and promotion of the benefits of sharing genetic information with family members and family members pursing preventative screening.
Funding Details
The study was funded by a Mayo Clinic Transform the Practice Grant, the Mayo Clinic Center for Individualized Medicine, Desert Mountain CARE Foundation, and the David and Twila Woods Foundation. These funding sources did not play a role in the design, conduct, or reporting of the study or in the decision to submit the manuscript for publication.
This publication was made possible by CTSA Grant Number UL1 TR002377 from the National Center for Advancing Translational Sciences (NCATS), a component of the National Institutes of Health (NIH). Its contents are solely the responsibility of the authors and do not necessarily represent the official view of NIH.
Footnotes
Disclosure Statement
The authors declare no conflicts of interest.
References
- Barsevick AM, Montgomery SV, Ruth K, Ross EA, Egleston BL, Bingler R, ... & Daly MB. (2008). Intention to communicate BRCA1/BRCA2 genetic test results to the family. Journal of Family Psychology, 22(2), 303. [DOI] [PubMed] [Google Scholar]
- Beach WA. (2002). Between dad and son: Initiating, delivering, and assimilating bad cancer news. Health Communication, 14(3), 271–298. [DOI] [PubMed] [Google Scholar]
- Bednar EM, Sun CC, McCurdy S, & Vernon SW. (2020). Assessing relatives’ readiness for hereditary cancer cascade genetic testing. Genetics in Medicine, 22(4), 719–726. [DOI] [PubMed] [Google Scholar]
- Blood GW, Dineen M, Kauffman SM, Raimondi SC, & Simpson KC. (1993). Perceived control, adjustment, and communication problems in laryngeal cancer survivors. Perceptual and motor skills, 77(3), 764–766. [DOI] [PubMed] [Google Scholar]
- Burns C, McGaughran J, Davis A, Semsarian C, & Ingles J. (2016). Factors influencing uptake of familial long QT syndrome genetic testing. American Journal of Medical Genetics Part A, 170(2), 418–425. [DOI] [PubMed] [Google Scholar]
- Cordova MJ, Cunningham LL, Carlson CR, & Andrykowski MA. (2001). Social constraints, cognitive processing, and adjustment to breast cancer. Journal of consulting and clinical psychology, 69(4), 706. [PubMed] [Google Scholar]
- Daly MB. (2015). A family-centered model for sharing genetic risk. [DOI] [PMC free article] [PubMed] [Google Scholar]
- de Geus E, Eijzenga W, Menko FH, Sijmons RH, de Haes HC, Aalfs CM, & Smets EM. (2016). Design and feasibility of an intervention to support cancer genetic counselees in informing their at-risk relatives. Journal of genetic counseling, 25(6), 1179–1187. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Di Pietro ML, Zaçe D, Orfino A, Di Raimo FR, Poscia A, De Matteis E, ... & Genuardi M. (2021). Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach. European Journal of Human Genetics, 29(2), 250–261. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Grau C, & Trigo P. (2012, May). The impact of Hungtinton’s disease on the family. In Anales del Sistema Sanitario de Navarra (Vol. 35, No. 2, pp. 295–307). [DOI] [PubMed] [Google Scholar]
- Finlay E, Stopfer JE, Burlingame E, Evans KG, Nathanson KL, Weber BL, ... & Domchek SM. (2008). Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations. Genetic testing, 12(1), 81–91. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Forrest LE, Delatycki MB, Curnow L, Skene L, & Aitken M. (2010). Genetic health professionals and the communication of genetic information in families: practice during and after a genetic consultation. American Journal of Medical Genetics Part A, 152(6), 1458–1466. [DOI] [PubMed] [Google Scholar]
- Gaff CL, Clarke AJ, Atkinson P, Sivell S, Elwyn G, Iredale R, ... & Edwards A. (2007). Process and outcome in communication of genetic information within families: a systematic review. European Journal of Human Genetics, 15(10), 999–1011. [DOI] [PubMed] [Google Scholar]
- Giri VN, Hegarty SE, Hyatt C, O’Leary E, Garcia J, Knudsen KE, ... & Gomella LG. (2019). Germline genetic testing for inherited prostate cancer in practice: implications for genetic testing, precision therapy, and cascade testing. The Prostate, 79(4), 333–339. [DOI] [PubMed] [Google Scholar]
- Green J, Richards M, Murton F, Statham H, & Hallowell N. (1997). Family communication and genetic counseling: the case of hereditary breast and ovarian cancer. Journal of Genetic Counseling, 6(1), 45–60. [DOI] [PubMed] [Google Scholar]
- Hodgson J, & Gaff C. (2013). Enhancing family communication about genetics: ethical and professional dilemmas. Journal of genetic counseling, 22(1), 16–21. [DOI] [PubMed] [Google Scholar]
- Julian-Reynier C, Eisinger F, Chabal F, Lasset C, Noguès C, Stoppa-Lyonnet D, ... & Sobol H. (2000). Disclosure to the family of breast/ovarian cancer genetic test results: patient’s willingness and associated factors. American journal of medical genetics, 94(1), 13–18. [DOI] [PubMed] [Google Scholar]
- Koehly LM, Peters JA, Kenen R, Hoskins LM, Ersig AL, Kuhn NR, ... & Greene MH. (2009). Characteristics of health information gatherers, disseminators, and blockers within families at risk of hereditary cancer: implications for family health communication interventions. American Journal of Public Health, 99(12), 2203–2209. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lafrenière D, Bouchard K, Godard B, Simard J, & Dorval M. (2013). Family communication following BRCA1/2 genetic testing: a close look at the process. Journal of genetic counseling, 22(3), 323–335. [DOI] [PubMed] [Google Scholar]
- Li ST, Sun S, Lie D, Met-Domestici M, Courtney E, Menon S, ... & Ngeow J. (2018). Factors influencing the decision to share cancer genetic results among family members: An in-depth interview study of women in an Asian setting. Psycho-oncology, 27(3), 998–1004. [DOI] [PubMed] [Google Scholar]
- McGarragle KM, Hare C, Holter S, Facey DA, McShane K, Gallinger S, & Hart TL. (2019). Examining intrafamilial communication of colorectal cancer risk status to family members and kin responses to colonoscopy: a qualitative study. Hereditary Cancer in Clinical Practice, 17(1), 16. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Menko FH, ter Stege JA, van der Kolk LE, Jeanson KN, Schats W, Moha DA, & Bleiker EM. (2019). The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice. Familial cancer, 18(1), 127–135. [DOI] [PubMed] [Google Scholar]
- Mesters I, Van Den Borne H, McCormick L, Pruyn J, De Boer M, & Imbos T. (1997). Openness to discuss cancer in the nuclear family: scale, development, and validation. Psychosomatic Medicine, 59(3), 269–279. [DOI] [PubMed] [Google Scholar]
- Nycum G, Avard D, & Knoppers BM. (2009). Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information. European Journal of Human Genetics, 17(7), 872–880. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Procidano ME, & Heller K. (1983). Measures of perceived social support from friends and from family: Three validation studies. American journal of community psychology, 11(1), 1–24. [DOI] [PubMed] [Google Scholar]
- Roggenbuck J, Temme R, Pond D, Baker J, Jarvis K, Liu M, ... & Mendelsohn NJ. (2015). The long and short of genetic counseling summary letters: a case–control study. Journal of genetic counseling, 24(4), 645–653. [DOI] [PubMed] [Google Scholar]
- Rowland E, & Metcalfe A. (2013). Communicating inherited genetic risk between parent and child: a meta-thematic synthesis. International journal of nursing studies, 50(6), 870–880. [DOI] [PubMed] [Google Scholar]
- Seymour KC, Addington-Hall J, Lucassen AM, & Foster CL. (2010). What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research. Journal of genetic counseling, 19(4), 330–342. [DOI] [PubMed] [Google Scholar]
- Shin DW, Shin J, Kim SY, Yang HK, Cho J, Youm JH, ... & Park JH. (2016). Family avoidance of communication about cancer: a dyadic examination. Cancer research and treatment: official journal of Korean Cancer Association, 48(1), 384. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Stuttgen K, Bollinger J, McCague A, Dvoskin R, & Mathews D. (2020). Family Communication Patterns and Challenges of Huntington’s Disease Risk, the Decision to Pursue Presymptomatic Testing, and Test Results. Journal of Huntington’s disease, (Preprint), 1–10. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tan KK, Lim TZ, Chan DKH, Chew E, Chow WM, Luo N, ... & Koh GCH. (2017). Getting the first degree relatives to screen for colorectal cancer is harder than it seems—patients’ and their first degree relatives’ perspectives. International Journal of Colorectal Disease, 32(7), 1065–1068. [DOI] [PubMed] [Google Scholar]
- Wiens ME, Wilson BJ, Honeywell C, & Etchegary H. (2013). A family genetic risk communication framework: guiding tool development in genetics health services. Journal of Community Genetics, 4(2), 233–242. [DOI] [PMC free article] [PubMed] [Google Scholar]