Résumé
Les parents porteurs d’une mutation des gènes BRCA1/2 s’inquiètent généralement du risque de leurs enfants d’avoir hérité de la mutation génétique. Cette étude vise à développer un outil d’aide à la décision à l’intention des parents porteurs quant à la communication du résultat de leur test BRCA1/2 à leurs enfants mineurs. Développé conformément aux critères de l’IPDAS, le prototype a été évalué auprès de mères porteuses d’une mutation des gènes BRCA1/2 (n=9) et de professionnels de la santé (n=3). Les résultats indiquent que les mères désiraient plus qu’un outil les aidant dans leur décision. Elles désiraient un outil pour les préparer à communiquer l’information à leurs enfants. La visée de l’outil a donc été modifiée. L’outil d’aide à la communication comprend les avantages et les inconvénients de communiquer le résultat, des étapes afin de s’y préparer, des conseils et des témoignages de parents. D’autres études seront nécessaires afin d’évaluer l’effet de l’outil sur le processus de communication en tant que tel.
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Development of a Tool to Guide Parents Carrying a BRCA1/2 Mutation Share
Genetic Results With Underage Children
Authors: Ariane Santerre-Theil (1,2,3), Karine Bouchard (2,3), Dominique St-Pierre (1,2,3), Anne-Marie Drolet (2,3), Jocelyne Chiquette (2,3), Michel Dorval (1,2,3), on behalf of Centre ROSE (1,3)
Affiliations: (1) Faculté de pharmacie, Université Laval, Quebec City, Canada; (2) Centre des maladies du sein Deschênes-Fabia, Quebec City, Canada; (3) Centre de Recherche du CHU de Québec – Université Laval, Hôpital du Saint-Sacrement, Québec, Canada.
Corresponding Author: Michel Dorval, Ph.D., Axe oncologie, Centre de Recherche du CHU de Québec – Université Laval, Hôpital du Saint-Sacrement, 1050 chemin Ste-Foy, QC, Québec, G1S 4L8. Telephone: (418) 682-8047; Fax: (418) 682-7949; email: mdorval@crchudequebec.ulaval.ca
25 Abstract
Aims: To develop a tool to help parents carrying a BRCA1/2 genetic mutation decide if and how to communicate genetic test result to their children. This study sets out the development process of the tool.
Methods: This is a qualitative study. A prototype was developed based on the IPDAS framework. Content was assessed based on feedback from focus groups, individual interviews and healthcare professionals. Participants were BRCA1/2 mutation carriers with underage children. Thematic analysis was conducted using the interview transcripts.
Results: Participants: nine mothers who tested positive for a BRCA1/2 mutation and three healthcare professionals. Instead of a decision aid (to communicate or not), mothers wanted a tool to help them communicate genetic test result to children. To meet the parents’ needs, a communication guidance booklet was developed, setting out the pros and cons of communication, steps to prepare sharing the test result, communication tips and parents’ testimonies.
Conclusions: Globally, the results suggest the mothers want a more comprehensive tool than a decision aid on whether or not to communicate the information to underage children. Further studies are needed to assess the impact of the communication process on parents who are BRCA1/2 mutation carriers and their children.
26 Introduction
BRCA1/2 mutations increase an individual’s lifetime risk of developing breast cancer by up to 87% and ovarian cancer by up to 68% (7, 13-15). Given these risks, it is recommended that women who test positive undergo more frequent monitoring for breast and ovarian cancer starting at age 25. Because this genetic predisposition is inherited as an autosomal dominant trait, each child of a mutation carrier has a 50% risk of inheriting the mutation (7, 9). It is up to parents to decide whether or not to share their BRCA1/2 test result with children. Since breast and ovarian cancers do not develop until adulthood, genetic predisposition testing is not available to underage children (91, 92).
Previous studies indicate that most parents with a BRCA1/2 genetic mutation share their genetic test result shortly after disclosure, even with underage children (40-45). Parents have mixed feelings about their moral duty to share such important information versus the need to protect children from the impact of the information (41, 42, 63, 64). Some parents report feeling duty-bound to promote open honest communication, share the result and raise their child’s awareness (41, 42, 44). They want to discuss their family history of cancer and risk-reduction surgery. Others consider their children too young to understand and want to avoid causing them unnecessary anxiety (41, 42, 44). To make the best decision, parents seek help and support (41, 42, 63, 64). Specifically, they need support to decide if, when and how to share risk information about cancer genetic testing and what reaction to expect from children. They also want healthcare professionals, such as genetic counsellors, to be more involved in the communication process (63). Although a significant number of tools are used in genetic counselling for hereditary breast and ovarian cancer, only one addresses the key issues of communicating results to underage children (68). The tool was written for mothers with a positive genetic test result who have underage daughters. However, despite having been the subject of an article setting out its development and preliminary assessment results, the tool is not yet available for the public use. This article sets out the development process of a decision aid to guide parents in communicating a genetic test result to underage children.
Materials and methods
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The tool was developed based on the International Patient Decision Aids Standards Collaboration (IPDAS) framework for decision aids (73, 78). Our adapted process includes the eight steps shown in Figure 1. First, the tool’s scope, purpose and target audience were defined using secondary analyses from our previous studies on family communication of BRCA1/2 test results (56-59). Second, a literature review of genetic test result communication by BRCA1/2 mutation carriers to underage children was conducted between June and September 2013 and updated regularly. Twenty-one articles were identified (40- 47, 51, 61, 63-65, 82-89). The relevant information from each study was organized according to the following themes: type of information shared with children, the pros and cons of sharing the information, timing and possible consequences of sharing information with children. Third, an advisory committee of healthcare professionals and researchers involved in genetic testing for breast cancer predisposition was involved in all steps of tool development. Fourth, based on the literature review, and in accordance with IPDAS, a first draft prototype was developed (Figure 2a). Fifth, the advisory committee met three times to review and comment on the prototype, until consensus was reached. Sixth, the tool content was evaluated by BRCA1/2 mutation carriers and healthcare professionals. Seventh, the results were analyzed to produce the final version. The tool was developed using an iterative process to repeat steps 5, 6 and 7 as often as necessary until saturation of data.
Evaluation by potential users and healthcare professionals
Participants: Eligible study participants were French-speaking carriers of a deleterious BRCA1/2 germline mutation who were parents of at least one underage child (˂ 18 years old) when tested. Individuals with cancer were eligible if they had been in remission for at least one year. Recruitment was conducted via email using addresses from the Centre ROSE database, which at the time of the study included over 1500 individuals concerned by hereditary breast and ovarian cancer (e.g. patients, family members, healthcare professionals). Other participants were recruited during educational activities. Individuals expressing an interest in participating were then contacted by telephone to explain the study and verify eligibility. Cancer genetics health professionals were also invited to participate. Ethics approval was obtained from the CHU of Quebec Research Center – Laval University Ethics Committee.
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Materials: A reading grid was used to collect participant feedback on the tool prototype. It included questions about the organization of information, content, clarity, language level and layout. The grid consisted of 12 items on a 4-point rating scale ranging from not at all satisfactory to very satisfactory and provided space for comments. The reading grid and tool prototype were mailed to mothers and healthcare professionals with a consent form prior to meeting with them.
Data collection: Feedback from parents in focus groups and individual interviews was obtained using a semi-structured interview guide. Focus group sessions lasted approximately three hours and individual interviews one hour. All sessions were recorded and transcribed. Three healthcare professionals (a geneticist, physician and psychotherapist) who work with BRCA1/2 mutation carriers emailed their comments using the reading grid.
Data analysis: A thematic content analysis of the transcripts was conducted by two team members at each step (AST/KB). The content analysis summary was presented to, and discussed with, the advisory committee to reach consensus about necessary changes.
Results
Of the ten BRCA1/2 mutation carriers who agreed to be contacted by the research team, one was considered ineligible due to a recent cancer diagnosis. All participants were Caucasian women, with a mean age of 45 years, at least 12 years of education and were in a partnered relationship. Most had a previous breast or ovarian cancer diagnosis (n=6), risk- reduction surgery (n=6) and had shared the genetic test result with their underage children (n=6). Globally, the nine participants had 17 underage children (nine females, eight males) when tested. At the time of the study, ten children had been informed of their mother’s test result.
The first draft prototype included information about transmission of the mutation, preparatory steps to decide whether to share the information, the pros and cons of sharing genetic test result, parents’ testimonies, a decision-aid exercise, frequently asked questions (FAQs) posed by children and a list of resources.
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The overall reading grid analysis was satisfactory, with the exception of quantity of information, which was rated somewhat satisfactory. The most appreciated features included how to state the risk of developing breast and ovarian cancer to a child and explain that from a medical standpoint nothing can be done for children under 18 years of age, and the emphasis on the importance of considering the family context in the decision to share the information (Table 1). Participants also appreciated statements that reassure the parent about what can be done for their children before adulthood in terms of lifestyle education. Participants suggested areas of improvement. The parents knew they would eventually have to share the genetic test result with their children and therefore wanted specific advice about what and when to share, and how to manage a child’s reaction. Some emphasised that girls may benefit from knowledge of their genetic background before the age of majority. For instance, using oral contraceptives may increase breast cancer risk but reduce ovarian cancer risk. Others wanted information about the possibility of taking out life insurance for underage children. Participants appreciated the children’s testimonies and suggested adding FAQs posed by parents.
After the advisory committee discussed these comments, the tool’s purpose was changed from a decision aid to a communication guide for parents when communicating their genetic test result to underage children.
The second draft prototype was written as a communication guide (Figure 2.b). In addition to the introductory section, the pros and cons of sharing the information, parents’ testimonies and FAQs posed by children, new sections were added to reflect participant feedback. The second draft material was organized as steps to prepare parents for sharing genetic test result with children, the importance of parents coming to grips with the result before sharing it with children, timing, a child’s possible reactions and how to reassure children. As suggested, FAQs posed by parents were added to address oral contraceptive and life insurance issues. Finally, testimonies inspired by focus group participants were inserted throughout the booklet. Modifications to the prototype were significant relative to the first draft (Figure 2).
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A second evaluation was conducted to assess whether changes to the tool met the parents’ needs. All focus group participants agreed to re-read the booklet and comment on the second prototype using the reading grid. The average reading grid response was satisfactory, an improvement over the first draft assessment (Figure 3).
Individual interviews with three new participants were also conducted. The thematic content analysis also revealed an improvement compared to the first draft assessment. The most appreciated elements were the testimonies, the elements for reflection, tips and parent’s testimonies throughout the booklet (Table 2). The participants’ suggestions for improvement included greater emphasis on the importance of parents coming to grips with their result before sharing it with children.
Finally, healthcare professionals reviewed the second prototype using the reading grid. They also appreciated the testimonies throughout the booklet, and considered the booklet complete and succinct. However, like the individuals interviewed, they suggested greater emphasis on the importance of parents coming to grips with their result before sharing it with children.
These comments were presented to the advisory committee and further changes made to the prototype. In response to the suggestion by participants and healthcare professionals for greater emphasis on the importance of parents coming to grips with their result before sharing it with children, the relevant page was moved to the beginning of the booklet in the final version (Figure 2c). The parents’ testimonies section was also expanded with input from new participants. The communication guide is a booklet entitled, Discussing your genetic test result for breast cancer with your child. It includes a foreword, an introduction to transmission of genetic predisposition to cancer, tips to help parents to know whether they are ready to talk with their children, the pros and cons of sharing the genetic test result, steps to help parents prepare for the discussion, parents’ testimonies, FAQs posed by parents and children, and additional resources.
31 Discussion
This study describes the development of a tool to help individuals carrying a BRCA1/2 mutation share genetic test result with their underage children. The tool prototype was developed using an iterative assessment process based on the IPDAS framework, using feedback from focus groups, interviews and healthcare professionals. To our knowledge, it is the first tool aimed at supporting parents in the process of communicating their BRCA1/2 genetic test result to children. It is also the first tool aimed at raising parents' awareness of the implications on some health issues in children before they reach the age of majority.
Contrary to the study’s initial objective, the iterative development process generated a communication guide rather than a decision aid. The revised tool is better aligned with the concerns of mothers who are carriers of a BRCA1/2 genetic mutation about communicating the result to their children. Although the literature suggests a decision aid is appropriate in this context, given the existence of two reasonable options (whether or not to communicate the information), our findings suggest that mothers are also concerned about how to communicate genetic test result to their children (41, 69). In fact, most study participants
had already decided to share their result with their children, an observation consistent with the findings of some previous studies (40-44). Family communication remains the best method to heighten awareness among family members and help them access customized medical monitoring (51, 84, 86, 93). Moreover, the literature suggests that communicating a BRCA1/2 test result to underage children occurs frequently and shortly after result disclosure (41-46). However, future studies are necessary to assess the effectiveness of a communication tool for communicating a BRCA1/2 genetic test result to children.
While most experts believe BRCA1/2 testing in underage children is unnecessary due to the absence of medical benefits, knowledge of their parent’s genetic test result could provide an educational opportunity about adopting healthy behaviours. For example, female teenagers could be informed of the associated risks and benefits of oral contraceptive use. In fact, there is some evidence that oral contraceptive use significantly reduces the risk of ovarian cancer in the general population. The risk decreases proportionately with duration of use (94). The same protective effect has been observed and demonstrated among female
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carriers of BRCA1/2 genetic mutations (95). However, oral contraceptive use could slightly increase the risk of breast cancer in this same population (95). Discussing the topic of hereditary cancer risk with an underage child could also provide parents with an opportunity to promote a healthy lifestyle (i.e. avoid or stop smoking, moderate alcohol consumption, eat a balanced diet and be physically active) (89). The scant scientific data available on the impact of sharing the information with underage children suggests it could lead them to adopt or maintain a healthy lifestyle (43).
It is reassuring to note the parents’ awareness of children’s insurability before they reach the age of majority. In the context of BRCA1/2 testing, such concerns are frequently raised (96, 97). These concerns affect both tested individuals and their children. Unlike the United States, Canadian legislation does not protect individuals who undergo genetic testing from discriminatory practices of employers or insurance companies (97, 98). Therefore, these individuals are obliged to disclose all requested medical information at the risk of having their policy invalidated (97). Thus, it is usual to take out life insurance on their children prior to genetic testing. Otherwise, children of tested individuals should do so on reaching adulthood. Although several factors affect a child’s insurability (medical history, a parent’s cancer diagnosis), some experts believe it is preferable to insure children (99). Currently, no consensus has been reached on the best mechanisms to protect genetic mutation carriers and their family members from all forms of insurance discrimination (100). In the absence of clearer guidelines, caution is key when advising patients on insurance issues.
One strength of this study lies in its use of a systematic, rigorous development process based on a framework recognized for producing validated, effective decision support interventions (101, 102). The use of various methods to assess the booklet further contributes to the internal validity. However, the small size and homogeneity of the sample, including absence of male participants, may limit the generalizability of the results. The feedback process of focus group participants during the second step of consultation reduces the risk that measurement or observation biases affect the quality of the developed tool. To our knowledge, this is the first communication tool written for parents who are carriers of a
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genetic predisposition to breast and ovarian cancer and made available for the public use. It is also the first tool to address some health decisions regarding underage children related to the parents’ genetic test result. As genetic tests are becoming increasingly accessible demand for this communication tool could rise among parents confronted with sharing their genetic test result for predisposition to breast and ovarian cancers. This tool could also be adapted to help individuals communicate test results to other family members. In some countries, such as France, the law mandates tested individuals from sharing the result with other family members who could benefit from the information (103).
Further studies are necessary to assess the effectiveness of the communication support tool for parents. Future studies should focus on underage children notified of their parent’s test result to assess how the information impacts the child’s development, health behaviours and relationship with the parent. The test result knowledge could significantly influence the child’s self-perceived risk of developing cancer in adulthood and how they adapt.
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Acknowledgements: This project was supported by the Quebec Breast Cancer Foundation and Ariane Santerre-Theil was recipient of a scholarship from the Faculty of Pharmacy, Laval University, Quebec. We also thank Anne-Marie Drolet, Claudia Côté, Marie-Claire Binet, Johanne Richard and Christine Wilmart for the revision and comments, CORAMH for their input and Ursula Donovan for the linguistic revision.