the phases of disclosing brca1/2 genetic information to offspring

Psycho-OncologyPsycho-Oncology 17: 797–803 (2008)Published online 22 July 2008 in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/pon.1344

The phases of disclosing BRCA1/2 genetic information tooffspring

Susan Clarke1,2, Kate Butler2 and Mary Jane Esplen1,2,3,�1Lawrence Bloomberg Faculty of Nursing, University of Toronto, Toronto, Canada2Behavioural Sciences and Health Research Division, University Health Network, Toronto, Canada3Faculty of Medicine, University of Toronto, Canada

Abstract

Objective: Women who carry a genetic mutation for hereditary breast/ovarian cancer (BRCA1

or BRCA2) are at high risk to develop cancer. A positive genetic test result also has

implications for a BRCA1/2 carrier’s offspring who each have a 50% chance of inheriting the

mutation. The dissemination of BRCA1/2-related information by carriers to offspring is not

well understood. Our study examines the experiences of BRCA1/2 carriers in communicating

genetic information to their offspring using a grounded theory approach.

Methods: Qualitative data were obtained from a multi-site group therapy trial for BRCA1/2

carriers with primary themes identified and coded using the constant comparison technique and

verified by team members.

Results: Female participants had a mean age of 45.4 years, 83% were married, 71% had

children (ranging from ages 2 to 30 years) and 45.9% had a prior diagnosis of cancer.

Dissemination of genetic information by BRCA1/2 carriers to their offspring was described as

a process involving several distinct phases with specific challenges within each phase. Several

themes were identified including dilemmas on ‘if’ and ‘when’ to disclose to offspring, concerns

should offspring receive a positive test result for BRCA1/2, dilemmas around feeling a need to

protect versus the need to inform, and women as being the primary communicators.

Conclusion: These findings have implications for genetic counselling as well as follow-up.

Copyright r 2008 John Wiley & Sons, Ltd.

Keywords: hereditary cancer; oncology; family relationships; disclosure; communication; genetic

testing

Introduction

In the past decade, genetic testing for hereditarybreast and ovarian cancer (HBOC) has becomeincreasingly available for those with a significantfamily history of breast and/or ovarian cancer.Women who carry either BRCA1 or BRCA2mutations are at an estimated 56–85% increasedrisk of developing breast cancer and a 15–60%increased risk of developing ovarian cancer [1–3]. Apositive BRCA1/2 test result has implications forbiological kin as inherited risk is shared withinfamilies [4,5] and offspring of carriers have each a50% chance of inheriting the mutation. Althoughmuch research has been conducted on the psycho-social impact of genetic testing for the individualcarrier, how BRCA1/2 carriers disseminate riskinformation to their families is less understood[4–9].Upon learning of their positive test result, the

BRCA1/2 carrier is faced with several challenges,such as being at increased risk to develop cancer aswell as assuming the responsibility to disseminatethis information to biological kin [10,11]. Disclo-

sure of HBOC risk information to relatives hasbeen described as one of the most complex areasfor carriers because they are faced with deciding if,when and how to tell relatives (including children)about their genetic status [8,12,13]. Moreover,learning that one is a carrier for a genetic disorderhas been suggested to pose a threat to how oneexperiences the parental role [14] and furthermore,has an impact on family relationships [13,15]. Infact, a significant number of BRCA1/2 parentsreported guilt feelings about potentially passingalong the mutation to their children [16]. However,effective tools and strategies have not yet beendeveloped to support carriers in the disclosure ofgenetic information to their children regardinginherited cancer risk [17,18], leaving carriers tonavigate this issue on their own.

How disclosure of BRCA1/2 genetic informationunfolds within the family has received limitedattention in the literature. One study reported thatcarrier parents with higher distress levels were morelikely to disclose their positive test results tochildren less than 18 years [19]. HBOC carriermothers also had a greater likelihood of disclosing

* Correspondence to:Program of Psychosocial andPsychotherapy Research inCancer Genetics, UniversityHealth Network, 200Elizabeth Street, EN9-242A,Toronto, Ont., Canada M5G2C4. E-mail: [email protected]

Received: 15 May 2007

Revised: 16 November 2007

Accepted: 10 January 2008

Copyright r 2008 John Wiley & Sons, Ltd.

to older children with the majority of disclosuresoccurring because the mother felt her offspring hada right to know [20]. In addition, HBOC carriers’disclosure to adolescent offspring was found tooccur at rates similar to adult offspring, 4 monthsafter the BRCA1/2 test results were received [21].However, in families suggestive of carrying theBRCA1/2 mutation, children who had elevatedpsychological distress levels experienced frequentthoughts of illness and increased cancer worries[22]. Although there is a lack of consensus in theliterature on the ‘right’ age to disclose, carriers’beliefs on when disclosure of the BRCA1/2 testresult ought to occur has been described, perceivedto be between 19 and 25 years of age [9].

Although these studies suggest disclosure isoccurring relatively soon after test result notifica-tion, there is limited research how BRCA1/2carriers disclose to their offspring. In order toexplore how disclosure unfolds, the present studywas undertaken to gain new insights into theexperiences of female BRCA1/2 carriers on thedissemination of genetic information to their off-spring among a convenient sample of womenparticipating in a support group study. The aimof this paper is to examine the experiences ofBRCA1/2 carriers in communicating genetic riskinformation to their biological offspring.

Research methodology

Participants and recruitment

We conducted a qualitative study within a largertrial involving a support group intervention forBRCA1/2 carriers [11]. The support group modelincorporated principles of supportive-expressivetherapy, designed to facilitate open expression ofthoughts and feelings in a non-threatening andnon-judgemental environment, with the goal ofreduction in emotional arousal, processing ofemotions and opportunity to examine feelings[23–25]. This inquiry was guided by the qualitativemethodological tradition of grounded theory (GT).GT generates concepts and their relationships thatexplain, account for and interpret variation inbehaviour in the area under study, revealing thechief concerns of people in this substantive area[26, 27].Women who attended Familial Breast Cancer

Risk Clinics for genetic testing and met theinclusion criteria for the group therapy trial wereinvited to participate in the study. The InstitutionalEthics Review Board at the University of Torontoand the research ethics boards at participatingcentres in Toronto approved study procedures.This paper presents data from the Toronto sites:two groups from the Centre for Research inWomen’s Health (n5 13) and two groups fromthe Toronto Sunnybrook Regional Cancer Centre

(n5 11), all of whom were recruited into the studybetween 1999 and 2002.The group therapy study inclusion criteria

consisted of (a) females aged 18–70 years, (b) apositive test for a BRCA1/2 and (c) living within1 h of a participating centre. Both women with andwithout a previous diagnosis of breast and/orovarian cancer were included (at least 1-year posttreatment). Individuals were excluded if they metany of the following criteria: (a) history of a majorpsychiatric disorder, (i.e. psychosis) as defined inthe Diagnostic and Statistical Manual (DSM-IV)and detected through a semi-structured psychiatricinterview, (b) unwilling to provide informed con-sent, (c) in active treatment for any cancer, (d)unable to converse in English and (e) currentlyenrolled in any other psychosocial interventionstudy.The supportive-expressive group intervention

included eight weekly sessions with groups of 6–8women, followed by four ‘booster’ monthly ses-sions, totalling 12 sessions over the course of 6months. For the purposes of this study, a randomselection of four group cohorts were selected forreview (n5 24 women), representing a review of 48sessions (n5 72 h). Verbatim transcriptions of thevideotaped sessions on dialogue that involveddisclosure issues were prepared. Plans to reviewadditional intervention tapes were in place, de-pending on the saturation of themes. Sampling wasdiscontinued following review of 48 sessions as nonew information was forthcoming. Transcriptswere independently reviewed by three team mem-bers (S.C., M.J.E., K.B.), who utilized the constantcomparison technique in the first phase of theanalysis. To ensure rigor and reliability of theanalysis, all transcripts were coded independentlyby team members with inter-coder agreement of490% in order to ensure a high degree ofconsistency in interpretations. Any coding discre-pancies were discussed by the team and resolvedthrough consensus. Codes were then entered intothe qualitative software QSR NVivo (2000) [28] tocommence the data analysis.

Findings

Participants had a mean age of 45.4 years, 83%were married and 71% had children ranging in agefrom 2 to 30 years. In total, 41.7% had a priordiagnosis of breast cancer with 4.2% diagnosedwith ovarian cancer; 54.1% were ‘at risk’ for cancerbut had no prior diagnosis. The main reasons fornot participating in the support group study werebeing too busy/not enough time to commit to thestudy (n5 21, 28%), not being interested in grouptherapy (n5 18, 24%), living within 1 h but feelingthat they were too far away from the participatingsite (n5 16, 21%), being unable to participate due

Copyright r 2008 John Wiley & Sons, Ltd. Psycho-Oncology 17: 797–803 (2008)

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798 S. Clarke et al.

to surgical complications (n5 6, 8%) and beingworried about confidentiality (n5 2, 3%).The major finding in this study revealed that

disclosure between BRCA1/2 carriers and theiroffspring was a process that occurred in severaldistinct phases. These phases included a pre-disclosure phase, where participants contemplatedsharing the news; a disclosure phase where partici-pants shared the genetic information and lastly, theimpact of disclosure phase, where participantsdescribed their reflections after disclosure occured(Figure 1).

Pre-disclosure phase

Considering the impact of the genetic test result

Participants acknowledged that testing positive forBRCA1/2 had an impact on their lives that bore anumber of considerations when deciding to discloseto offspring. Such impacts included fear of devel-oping cancer and seeing the BRCA1/2 positiveresult as a ‘loss’ for future goals and possibilities.Previous losses within the family to cancer couldalso be rekindled within this phase and wereconsidered in terms of implications for offspring.Although participants described disclosure issuesfor both sons and daughters, there was a poignancyexpressed when participants spoke of their daugh-ters. Several women described specifically antici-pating their daughters’ emotional reactions whendisclosing, wondering how to best support them intheir reactions to having a mother at increased risk

as well as their own potential sense of vulnerability.Others expressed concern for a daughter’s futureshould she also test positive, wondering how theymay deal with decisions around screening, prophy-lactic treatment decisions but also around lifegoals. One woman described concerns that sheforesaw for her daughter’s life, as she contemplatedtelling her 23-year-old daughter about her positiveBRCA1/2 test:

I’m thinking if my daughter gets her results, whateffect is that going to have on her life? I don’t thinkit can help but affect her life because she’s going tohave to make some decisions in the future.

Other concerns were expressed, in terms of thevarious forms of discrimination that a daughtermight face, including securing adequate insuranceand finding a life partner. The concern that thedaughter might be viewed as ‘damaged goods’ wasfrequently described in the groups.

Determinants on the context of disclosure

Although participants recognized the right ofoffspring to know about the familial mutation,some were faced with an ethical dilemma concern-ing when the child ought to be told. For those whohad small children, most participants describedmaking a straightforward decision to delay tellinguntil the child was older. However, for participantswhose children were approaching their late teens/early adulthood, the decision to disclose was oftendescribed as an emotionally laden challenge, in

Figure 1. The process and phases of disclosing genetic information to offspring in BRCA1/2 carriers

Disclosing genetic information to offspring 799


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attempting to balance the moral obligation todisclose whilst needing to protect the child from theimpact of the genetic information. One participantdescribed her dilemma about when to disclose toher adult daughter, citing on the one hand a desireto allow her child time to not worry about genetictesting, whilst stressing on the other hand theimportance of screening methods, referring to asignificant family history of cancer as a reason tobe vigilant.Some participants also described trying to gauge

if their offspring would even want to know aboutBRCA1/2 and their attempts at trying to respecttheir choice. Several participants delayed disclosurebecause they perceived their offspring had notindicated a readiness to know. For example, onewoman described her interpretation of her adultdaughter’s lack of following up about her genetictest result:

I think my daughter doesn’t want to know. I thinkshe doesn’t want to be afraid. That’s one of thethings that has kept me from telling my daughterthat I have the gene—is that I don’t want to inflictthe pain.

However, when considering delaying disclosure,some women experienced a sense of increasinginternal pressure to share the information, espe-cially as the child became of age for testing. This‘pressure to tell’ was linked with a great deal ofuncertainty on how to convey the genetic informa-tion in a supportive way without overwhelming thechild. Mothers who sensed that their daughterswould be able to manage the psychological issuesfelt less conflicted in their disclosure decisions.

Consequences of not telling

For those women who delayed disclosing tooffspring regardless of age, participants spoke of‘gate-keeping’ the knowledge away from the childand felt a sense that the knowledge could ‘spill out’unintentionally. Some participants were unexpect-edly confronted with the child’s increasing maturityand contact with the outside world. For example,when topics around genetics came up, someparticipants described becoming acutely aware ofhow they answered a particular question from theirchildren, for fear of the information being disclosedtoo early. Furthermore, an unexpected conse-quence of delaying disclosure was a feeling ofongoing dishonesty towards one’s children. Onewoman described her reaction when her daughter(age 28 years) asked about the outcome of hergenetic test:

(My daughter) said to me ‘Remember those(genetic) tests you had? How did they turn out?’Fortunately we were not looking at each other-

ythis is what I said to her: ‘It’s okay’. I didn’t saythat I didn’t have the gene. I said ‘You’re in a high-risk situation. We’ve had a lot of cancer in ourfamily. You need to be looked at, you need tobey’ like my heart is this big! I was aware that Ididn’t like to be lying.

As this example illustrates, the carrier’s need toprotect her daughter from the perceived harm ofthe genetic information resulted in the disclosure oflimited information, causing a sense of her feelingdishonest.

Disclosure phase

For those who did disclose to offspring, partici-pants described a variety of methods that wereused, ranging from making a plan ahead of time todisclosing spontaneously or unintentionally. Oneparticipant had initially denied to her 17-year-olddaughter that she received a positive test resultwhen her daughter asked about the outcome of thegenetic tests. She subsequently developed a planwith the help of various resources and theninformed her daughter:

(I was) postponing,. ytrying to find the right timeand I was dying inside. ..I thought I’m notsupposed to cry.. But when I mentioned myhusband and my mom (both deceased) I startedto cry. (She said) nothingy. I started giving hermore information and my daughter said ‘I kind ofknew I had a gene’. I said ‘You have a 50% chanceof having the gene’. But everybody (in our family)had cancer. So she assumed she’ll have cancer.

This example highlights the emotionality thatdisclosure can bring, especially in situations thatcorrected previously inaccurate information. Con-versely, other participants described disclosure inless-emotional terms, citing the importance ofhonesty and credibility to their children as themessage was being conveyed. Another womandescribed her efforts to maintain a calm, controlledstance when she disclosed to her teenage offspring,stating that her ‘matter-of-fact’ approach would beinterpreted by her children as ‘not a big issue’ andtherefore ‘not a death sentence’. However, anotherparticipant who had disclosed to her teenagechildren immediately after receiving her test result,later regretted her decision, given her one daughterwas too young to participate in screening.

My daughter was 19yshe was aware that I wasgoing to be tested. She asked what the results wereand–I can’t lie to my children, I just can’t–so I toldthem. But you know if they hadn’t asked for theresult I probably would not have told them until Iwould have found out when they could do some-thing positive about that. I would have liked it if



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they could have waited until they could proactivelydo something about it.

Some participants were caught off guard by theirchildren’s questions. For example, some womenhad school-age children who were inadvertentlylearning about genetics through science class andthinking about their own family histories. Oneparticipant described an incident with her 14-year-old daughter when her daughter began askingabout their family’s genetics.

My daughter was doing a science project on genepools. She came out and asked ‘We don’t have anybad genes?’ and I lied to her ‘No we don’t’. Becausethere’s just no way I could have told her, because ofthe look on her face. Especially at this age, there’sjust no way I could have told her.

As the above example illustrates, being ‘caughtoff guard’ resulted in the sharing of inaccurateinformation, in the mother’s attempts to protecther child.

The impact of disclosure phase

Several themes emerged following the disclosure tooffspring, for both the carrier and the perceivedimpact for the child. Participants voiced theirgreatest fear as being the possibility that theirchild may receive a positive test for a mutation.Once the genetic information was shared, however,some participants expressed strong feelings aroundwhen their children ought to be tested and theirsense of guilt in thinking the mutation may havebeen inherited by their child. One participantrecalled her daughter’s experience of undergoinggenetic testing and how she prepared herself for thepossibility that her daughter (age5 23 years) mightreceive a positive test result. She conveyed the reliefshe experienced upon learning her daughter’sgenetic test result was negative.

It was a huge relief. Actually, it left me devastated.I was crying a lot afterwards. I didn’t realizebecause I accepted it in myself. I was just sohappy—it’s like when they take that weight offyour shoulders, it takes a while until you feel better.

Participants also described the need to providetheir offspring with increased emotional support inthe days following disclosure. These responsesincluded needing to reframe the genetic informa-tion and to include with it a message of hope, forexample in terms that modern science would find acure for cancer and the importance of screeningand early detection to manage high risk status.For participants who had sons, the issue of when

to test also arose after disclosure had occurred.One participant described some of the issues

surrounding testing that she perceived for her sonafter she disclosed the genetic information.

My son is sixteen and he’s much more sensitivethan my daughter. We were talking about mydaughter being tested and he was very quiet andthen he said ‘Why would she want to be tested?’ Iexplained whyyand he was quietyI knew my sonwould be a lot more sensitive. I think he always hadthis attitude ‘Phew, I’m a boy’. There’s a possibilityof male breast cancer and I think what he heardwas ‘Wow, you think I might have to be testedtoo?’ and I think that’s why he didn’t say anythingbecause he was just digesting that.

In addition, there was a sense that once thegenetic information was shared, several participantsdescribed feeling they were relinquishing informa-tion and, hence, not having control over theirchild’s decision making around genetic testing. Forexample, some participants struggled with theirchildren’s decisions on genetic testing when it felt atodds with their own beliefs or wishes. For others,there was recognition that although the child wouldultimately have to decide to pursue genetic testing,there was concern for the consequences or coststhat may ensue if the result was positive.

Discussion

The aim of this study was to examine theexperiences of BRCA1/2 carriers in communicatinggenetic information to their biological offspring.One of the main findings is that disclosure is not across-sectional event, but rather is a process thatinvolves distinct phases for carriers over time.Female carriers also described disclosure to off-spring largely as a responsibility they undertook ontheir own; women undertaking the primary com-municator role in dissemination of genetic knowl-edge has previously been described [9].Furthermore, a key finding is that disclosure canbe a complex and emotionally laden experience forcarriers and has been described previously as acomplex issue in HBOC [29].Our findings indicate that participants struggled

with complex ethical dilemmas when deciding todisseminate the genetic information to offspring.Although participants endorsed their moral ob-ligation to disclose, they also acknowledged astrong need to protect their loved ones with thisnews. At times, the need to protect caused womento mislead their children about the positive testresult, especially if they were confronted withquestions they were unprepared to answer. Theliterature reports carriers’ recognition in theirresponsibility and duty to disclose genetic informa-tion to biological kin unless it breaches a patient’swishes [30]. However, our findings suggest that



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carriers struggled in balancing conflicting valuesand needs when deciding to disseminate geneticinformation, such as the offspring’s right to knowversus the parent’s need to protect. Some partici-pants simply negotiated these competing valuesand needs by strongly encouraging offspring toparticipate in screening. Deceiving family membersabout HBOC has been described as an ethicaldilemma for genetic counsellors [31]. Furthermore,the extent of non-disclosure of BRCA1/2 informa-tion has been described to be more significant andthat genetic counsellors are likely to interact withpatients who will not notify biological kin [21].For those participants who had a significant

family history of cancer, disclosure appeared toheighten the struggle with balancing these conflict-ing values and needs. The term ‘cancer burden’ hasbeen used to describe the individual’s experience ofthe family history of cancer and the emotionalburden of witnessing relatives with cancer, whohave undergone treatment or died [32]. As theexperience of multiple losses could be rekindledwhen considering disclosure, the impact of thegenetic news appeared to be an important con-sideration for carriers when sharing this informa-tion with their children. Given the life-alteringnature of the cancer experience within the family,the BRCA1/2 genetic risk information may increasethe emotional impact of the family’s experiencewith cancer and may explain how competing valuesare balanced between the right to be informed andthe parent’s need to protect the child.Although genetic testing has the potential to

improve health outcomes, our findings suggest thatthe potential exists for carriers to experience asignificant amount of decisional conflict arounddissemination to offspring. Decisional conflict canarise when a particular decision has several alter-natives, with both desirable and undesirable out-comes with no outcome satisfying all personalobjectives [33]. We also noted in the analysis a senseof regret for some participants or ‘second guessing’as they did not anticipate some of the issues thatmight arise for their children ahead of time, or eventheir own post disclosure emotional reactions.Family context has been found to affect com-

munication regarding the family history of cancer.For some families, one member’s decision topursue genetic testing can destabilize family ex-pectations and norms with other members feelingpulled in different directions, in terms of his/herown needs, the family’s style of coping and thegreater public discourse on genomics [34]. Weobserved some of these issues as some participantsadmitted to withholding genetic information fromtheir daughters (some of who would be eligible fortesting), either to give the adolescent or youngadult daughter time in her life to not worry aboutgenetic testing or that ‘there was nothing that canbe done at her age’.

Clinical and research implications

Further research is required to examine the impactof disclosure on recipients of the genetic informa-tion in order to explore potential factors ofrecipient reactions. Our study also suggests thatthere is a need to provide psychosocial follow-upfor families after genetic testing, as well as a need todevelop educational tools and interventions tosupport carriers in the area of disclosure to theirchildren. Potential tools could include validateddecision aids and psycho-educational interventionsthat facilitate adaptation and dissemination ofgenetic knowledge, in order to better supportcarriers in managing these complexities [35]. Suchtools could support decision making when con-flicting and opposing objectives occur in conjunc-tion with existing services [33].There are several limitations to this study. As

this is a qualitative study within a group therapyintervention trial, the results may not necessarily begeneralizable to the entire population of BRCA1/2carriers (e.g. small and convenient sample); how-ever, efforts and procedures were in place to ensurerigor in terms of credibility (i.e. data analysed untilsaturation of themes, coding by several teammembers and high internal consistency betweencoders). However, these women appear to repre-sent those participating in familial cancer clinics[11] and that there appeared to be few differencesbetween women who participated in the studyversus those who did not, although little data werecollected on women who declined the supportgroup study. As this was a convenience sample,findings may be biased towards particularly dis-tressed women or those focused on the issue ofdisclosure. Although several women expressedtheir experiences during the course of the grouptherapy, others had previously disclosed therebyintroducing the potential limitation of recall bias.In addition, there did not appear to be changesover time within the supportive-expressive groupsin the attitudes of participants regarding disclosureto offspring. Lastly, our findings may not begeneralizable to those who do not seek outresources and decide on their own to disseminatethe positive test result to their children.However, despite these limitations, the opportu-

nity for women to examine and explore these issueswithin a safe, authentic environment over time mayhave potentially resulted in a greater depth ofunderstanding disclosure issues over time. Thepurpose of this inquiry was to achieve an improvedunderstanding of some of the issues that BRCA1/2carriers face when contemplating or experiencingdisclosure to their offspring. In summary, studyfindings indicate that the process of disclosure ofBRCA1/2 genetic information to offspring iscomplex and multi-layered. The disclosure ofgenetic information is a challenge and often, a



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painful task. It involves a process with distinctphases whereby multiple demands were attemptedto be balanced between the offspring’s right toknow and the mother’s need to protect.

Acknowledgements

This study was funded by the Canadian Breast CancerResearch Alliance Grant 015694. Dr Esplen is a recipient ofcareer scientist awards from the National Cancer Institute ofCanada (NCIC) with funds from the Canadian CancerSociety and the Canadian Institutes of Health Research(CIHR). We are also very grateful to all the participants fortheir valuable contribution.

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