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Journal of Clinical Oncology, Vol 25, No 24 (August 20), 2007: pp. 3705-3711 © 2007 American Society of Clinical Oncology. DOI: 10.1200/JCO.2006.09.1900
How Often Do BRCA Mutation Carriers Tell Their Young Children of the Family's Risk for Cancer? A Study of Parental Disclosure of BRCA Mutations to Minors and Young Adults
From the Department of Medicine, Section of Hematology-Oncology; MacLean Center for Clinical Medical Ethics; and the Department of Health Studies, University of Chicago, Chicago, IL Address reprint requests to Christopher K. Daugherty, MD, 5841 S Maryland Ave MC2115, Chicago, IL 60657; e-mail: cdaugher{at}medicine.bsd.uchicago.edu
Purpose Predictive genetic testing for adult-onset diseases is generally discouraged until the age at which interventions are believed to be helpful. Yet, many BRCA mutation carriers discuss their results with their children. This study describes the prevalence and experiences of parental communication of BRCA results to children under the age of 25 years old.
Patients and Methods Forty-two BRCA mutation carriers completed semistructured telephone interviews assessing self-reported disclosure to offspring and parent experiences with disclosure. Qualitative responses were coded for themes. Results Fifty-five percent of parents reported discussing hereditary risk of cancer with at least one child. By parent report, 49% of the 86 offspring learned of their parents genetic test results or the hereditary cancer risk. Offspring age was strongly associated with disclosure (P = .001), and the majority of adolescent and adult children learned of the familial mutation or the hereditary risk of cancer. Parents reported that some offspring did not appear to understand the significance of the information shared, and that some offspring had initial negative reactions to disclosure. Physician (14%) and genetic counselor (21%) involvement in parent decisions to disclose were low. Conclusion Children of BRCA mutation carriers learn of their parents genetic test results many years before preventive interventions are indicated. Further research is needed to examine how young individuals understand this information and its psychosocial impact and influence on subsequent lifestyle and health behaviors.
Since the discovery of the BRCA1 and BRCA2 genes, clinical genetic testing has become an important component of cancer risk assessment. Females with a BRCA1/2 mutation have 37% to 85% lifetime risk for breast cancer and a 15% to 41% lifetime risk of ovarian cancer.1-3 Mutation carriers are counseled to consider interventions to reduce their cancer risk, including prophylactic surgery, heightened surveillance and chemoprevention. In general, these measures do not need to be initiated until age 25.4,5 Thus, genetic testing for BRCA mutations is offered to adult individuals at risk for hereditary cancer, and professional societies have generally recommended against genetic testing of minors for medical conditions where the onset of disease is unlikely before adulthood and preventative or therapeutic measures are not indicated until adulthood.6-10 Despite recommendations against genetic testing for BRCA mutations in minors, approximately 50% of BRCA carriers inform their minor children of their mutation status.11-17 The content, timing, and impact of this communication remain unknown. Studies describing parental disclosure of BRCA test results to offspring have been limited in descriptions of child characteristics (specifically child age)11,12,14,16 and have included individuals that received negative or indeterminate genetic test results.12,13,17 None of the studies to date have provided great insight into parent experiences with disclosure, how parents make the decision to disclose, and the role of health care professionals in the decision and process of disclosing. In an attempt to describe parental disclosure experiences among BRCA1/2 mutation carriers, we studied self-reported parental disclosure of genetic test results to offspring younger than 25. As many of these constructs have not been previously studied, qualitative methods were included to explore experiences and to evaluate impressions of the impact of disclosure over time.
Study Participants Patients were recruited through the University of Chicago Cancer Risk Clinic (Chicago, IL). Participants included BRCA1/2 mutation carriers who had previously enrolled in a registry for cancer-prone families, provided consent to be contacted in the future, and had at least one child younger than 25 at the time of parent genetic testing. Institutional review board approval was obtained. Relative to federal regulations and institutional board review involving research on genetic testing for heritable disorders, a waiver of consent pertaining to obtaining specific information about family members (including minors) was obtained.
Survey Administration Of 171 BRCA1/2 mutation carriers enrolled onto the Cancer Risk Clinic, 112 were deemed ineligible for this study. Sixty-two mutation carriers did not have children who met the inclusion criteria, 26 had not signed consent allowing recontact, 11 were deceased, nine had insufficient contact information, and four had not received, or did not understand, their test results. Forty-three of the 59 (73%) eligible participants completed the telephone survey. Two individuals refused to participate, and 14 were contacted multiple times, but did not complete the survey. To account for potentially young disclosures, yet exclude parent-child pairs where disclosure was unlikely, analyses included only parents who had children older than 4 at the time of the interview. Forty-two parents from 32 unique families and 86 children were included in the final analysis. There were no statistically significant differences between participants and nonparticipants with regard to parent age, child age, parent sex, personal history of cancer, or number of children. Of note, there were significantly more African American mutation carriers among the nonparticipants.
Statistical Analyses
Participant Characteristics Table 1 describes the characteristics of the parent subjects and their eligible children. All parents received their BRCA test results between 1996 and 2003, with a median of 2.4 years (range, 5 months to 8.25 years) between genetic testing and interviews. Seventy-five percent of parents were interviewed within 5 years of their test results.
Disclosure Rates and Timing of Disclosure Fifty-five percent of parents reported discussing the hereditary risk of cancer with at least one offspring, and 50% (21 of 42 patients) specifically reported that they had disclosed their genetic test results (Table 2). In evaluating disclosure incidence according to each child, 49% of children received information regarding hereditary risk or their parent's BRCA mutation. Although most parents who disclosed sharing this information immediately, 30% reported delayed communication to at least one offspring ranging from several months to 6 years after receipt of their test results. The primary reasons parents gave for delays in communication included waiting for the child to get older, for the parent to adjust to the information, or to decide how to use the information for themselves and to share in person (especially in the case of college students). Several parents described sharing some details over time (ie, hereditary cancer in the family initially and the genetic mutation later or the genetic mutation initially and specific risks and implications later).
Disclosure rates according to offspring age are described in Table 3. Rates of disclosure by offspring age at interview are included to represent cumulative disclosure rates, but do not accurately represent offspring age at disclosure. To best describe when offspring actually learned of the hereditary risk, event age (age of child at disclosure or age of child at interview if disclosure did not occur) was developed. This analysis reveals that the majority of adult and late adolescent children learned of the hereditary risk of cancer or their parent's genetic mutation. The mean age of children who were disclosed to was 17.95 (standard deviation, 4.85). Although disclosures to young children were rare, two children younger than 10 were told of their parent's BRCA mutation or the hereditary risk of cancer, one as young as 7.
Factors Associated With Disclosure and Reasons for Disclosure and Nondisclosure Factors associated with disclosure included older child age, female parent sex, parent history of prophylactic surgery (evaluated among females only), and less formal parent education. These associations remained significant in logistic regression analyses adjusted for child age (Table 4). In both analyses, child sex and parent's history of cancer were not significantly associated with disclosure. Further analyses evaluating all factors jointly (not shown) supported these conclusions, though the variability in the odds ratio estimates becomes large when considering multiple predictors simultaneously.
Participants were asked to explain why they elected to disclose or not disclose their test results to their offspring (Table 5). While most disclosures were intentional, one child learned of the parent's BRCA mutation inadvertently. Of those who did not disclose because they felt their child was too young, the majority (90%) had at least one child younger than 10.
Role of Health Care Professionals in the Decision to Disclose or Not Disclose Parents were asked who was the most important person in assisting them with the decision to disclose. The majority of parents reported either "myself" (45%) or "my spouse" (43%), and few (5%) reported a health professional in response to this question. When specifically asked if a health care professional was involved in this decision at any point, 21% of parents reported involvement of a genetic counselor, and 14% reported involvement of a physician. Participants were asked if they thought it would be helpful to have their offspring meet with a genetic counselor. The majority (62%) of parents responded no, 31% responded yes, and 7% were unsure. Parents interested in genetic counseling were more likely to have older offspring (P < .01) and to have disclosed to at least one offspring (P = .001).
Offspring Reactions to Disclosure
In this study, we describe the prevalence, timing of, and parents' experiences with disclosure of genetic test results to young adult and minor children among BRCA mutation carriers. While prior studies have reported that parental disclosure of genetic test results to children does occur,11-17 the timing of disclosure, age of offspring at disclosure, role of health care providers, and offspring reactions have not been described. As suggested in prior research, our results indicate that the majority of children of BRCA mutation carriers are learning of their potential genetic risk of cancer many years before preventive interventions are recommended and without input from health care providers. Offspring age was strongly associated with disclosure, and some parents delayed informing their children or communicated this information over time. Additionally, the data suggests limited involvement of clinicians in parents' decisions to disclose results to young family members, that some offspring may not fully understand the information shared and that there is a potential for initial adverse reactions among offspring in response to parent disclosures. These results should be confirmed in larger prospective studies, but suggest a need for further research in this area of clinical cancer genetics and counseling. Prior studies have not evaluated the role of health care professionals in parent decisions to disclose. In practice, parents are frequently counseled to delay involvement of children younger than 18 years in the genetic counseling process. Our data suggests that most parents make the decision to disclose on their own or with assistance of family members, and do not frequently involve health care professionals. These findings could be the result of the fact that there is no guideline for parents or health care professionals as to the best time to discuss parent's genetic test results with children, making it difficult for health care professionals to make recommendations to parents. It is also possible that parents were never offered or perceived of the existence of support from health care professionals. Additionally, the majority of parents indicated they were not interested in genetic counseling services for their children, implying parents may be comfortable keeping this communication within the family unit. Although parents may be comfortable sharing their results with their children, without professional assistance, it has been suggested there is a risk of inaccurate transmission of genetic information and/or misconceptions with this form of communication.25 As interest in genetic counseling for offspring was more common among parents who reported disclosure and had older children, there may be a role for these services for some, particularly older, offspring. Future studies evaluating what information parents are sharing, what offspring understand, and how they conceptualize future risk could further guide counseling for this unique at-risk population. There are no published data on the psychological impact of learning of a parent's BRCA mutation and one's potential risk for adult-onset cancer before the established age of screening and intervention.25,26 Many BRCA mutation carriers find their adult family members are upset when they share their genetic test results with them.15 Similarly, approximately half of the parents in our study described initial negative responses to disclosure among their children. Equally important, parent reports suggest that some children may not understand the results. Thus, further research is needed to explore what children recall and understand of these conversations. This represents a critical gap in the field of cancer genetics and counseling, with little information available to health care professionals counseling BRCA mutation carriers who inquire about the impact of discussing genetic risk with their children before the recommended age of medical screening or intervention. Despite some initial adverse reactions to disclosure, the majority of parents reported either no impact or a strengthening of their relationship with their child after disclosure. Further research is needed to better understand how children and young adults understand and respond to early disclosure of hereditary risk for of adult-onset disease. As has been previously suggested, intuition suggests that parents who disclose their BRCA mutations to their children before the recommended age of intervention must be motivated by desires other than cancer screening or risk management as there is no immediate medical benefit.12 In our study, many mutation carriers described sharing hereditary risk or their test results to provide information, suggesting a value to the genetic information itself, regardless of the immediate clinical value. Additionally, female children were just as likely to learn of their parents' BRCA mutation as male children, again suggesting that parents are communicating this information for reasons other than medical benefit. Although not strongly represented in the qualitative responses, the relationship between disclosure and history of prophylactic surgery raises the possibility that some parents may disclose to explain their own medical decisions or medical scenario. Alternatively, women who undergo prophylactic surgery may represent a subgroup with greater general or cancer-related anxiety. Consistent with prior studies,12,13,27 most parents elected not to disclose because they perceived their child to be too young or were concerned about increasing the child's fear of cancer or anxiety related to the parent's own health. Similar to prior reports,11,28 female parents and less formal education were associated with disclosure. We found that prophylactic surgery among mothers also was associated with disclosure. These associations may reflect differences in perceptions of BRCA-associated risks, which may influence parent decisions to disclose. For example, female mutation carriers may have different perceptions of BRCA-associated disease than male carriers, and individuals with more advanced education may have different perceptions of genetically determined disease than those with less formal education. Similarly, women who elect to have prophylactic surgery may feel that BRCA-associated risks are modifiable. Such hypotheses are suggested by the self-regulation theory of health behavior, which could be employed to further evaluate these associations.29-31 Although informative, several limitations of this study must be considered, primarily the retrospective design and select sample. As interviewers asked parents to describe events that occurred in the past, there is a potential for recall bias. Most participants gave short, vague answers when asked what they discussed with their children, and therefore, the content and extent of communication of genetic risk could not be assessed. Prospective studies with long-term follow-up to account for potential delays in disclosure could provide additional information. Our results only describe parents' perceptions of offspring reactions and the impact on the parent-child relationship. Interviews with the children would provide a greater description of these events and would allow more direct study of the potential psychological impact. As with many studies in this population, participants were largely highly educated, and minorities were under-represented. The proportion of nonrespondents and individuals without prior consent to contact may introduce additional response bias, and the ratio of female children to male children may reflect an overrepresentation of parents with female children presenting for genetic testing. Thus, these findings may not apply to the general population of BRCA mutation carriers. Lastly, estimation and comparison of disclosure prevalence according to child or parent characteristics, and in particular in relation to multiple factors considered simultaneously, are limited by the size of the study cohort, and thus factors identified here need to be confirmed by additional studies. High rates of parental disclosure of BRCA test results to late adolescent and young adult children is not surprising considering that many mutation carriers undergo genetic testing to better define the future risk for their children.32-35 The impact of this communication and the long-term psychological impact on these children are important areas for future research. A better understanding of how children conceptualize genetic risk can help define a role for health care professionals and genetic counseling.
The author(s) indicated no potential conflicts of interest.
Conception and design: Angela R. Bradbury, Shelly A. Cummings, Melody White, Olufunmilayo I. Olopade, Christopher K. Daugherty Financial support: Angela R. Bradbury, Olufunmilayo I. Olopade, Christopher K. Daugherty Administrative support: Comfort N. Ibe, Sogyong L. Auh, Fay J. Hlubocky Provision of study materials or patients: Angela R. Bradbury, Shelly A. Cummings, Melody White, Olufunmilayo I. Olopade Collection and assembly of data: Angela R. Bradbury, Comfort N. Ibe, Sogyong L. Auh, Fay J. Hlubocky, Christopher K. Daugherty Data analysis and interpretation: Angela R. Bradbury, James J. Dignam, Comfort N. Ibe, Sogyong L. Auh, Fay J. Hlubocky, Christopher K. Daugherty Manuscript writing: Angela R. Bradbury, James J. Dignam, Olufunmilayo I. Olopade, Christopher K. Daugherty Final approval of manuscript: Angela R. Bradbury, Olufunmilayo I. Olopade, Christopher K. Daugherty
Supported by Ralph and Marion Falk Medical Research Trust, Breast Cancer Research Foundation and Greenwall Foundation, Program in Bioethics. Presented at the 41st Annual Meeting of the American Society of Clinical Oncology, May 13-17, 2005, Orlando, FL; and the 9th International Meeting on the Psychosocial Aspects of Genetic Testing for Hereditary Cancer, June 9-10, 2005, Philadelphia, PA. Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.
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Copyright © 2007 by the American Society of Clinical Oncology, Online ISSN: 1527-7755. Print ISSN: 0732-183X
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ABSTRACT
INTRODUCTION
2 tests and logistic regression analyses with robust variance estimates were used to evaluate parent and child characteristics associated with disclosure. 
