psychological impact of genetic counselling and testing in women previously diagnosed with breast...

Abstract

Background: The recent discovery of susceptibilitygenes relating to breast cancer, BRCA1 and BRCA2,now allows women with breast cancer and a familyhistory of breast/ovarian cancer to undergo genetictesting to identify a causative germ-line mutation.Thepresent study assessed the psychological status overtime of women affected by breast cancer requestinggenetic testing (cases; n = 32) compared withmatched controls (n = 28).

Methods: Subjects were recruited through twoSydney-based hospitals. Data were collected via ques-tionnaire and telephone interview at baseline, and2 weeks and 3–6 months following counselling.

Results: Genetic test results were not received by thesubjects within the study period. Cases showed agreater increase in knowledge of cancer geneticsfollowing counselling compared with controls, andthis was maintained over time. Psychological symp-toms remained stable over the study period and therewere no differences between groups.

Conclusions: Increased knowledge following geneticcounselling was not accompanied by an increase inanxiety or depression. Further assessment will berequired in the long term to determine the psycho-logical impact of receiving a genetic test result.(Intern Med J 2001; 31: 397–405)

Key words: breast cancer, genetic testing,psychological impact.

ORIGINAL ARTICLE

Psychological impact of genetic counselling and testing inwomen previously diagnosed with breast cancer

J. RANDALL,1 P. BUTOW,1 J. KIRK2 and K. TUCKER3

1Medical Psychology Unit, Department of Psychological Medicine, University of Sydney and Royal North ShoreHospital, 2Familial Cancer Clinic, Department of Medical Oncology,Westmead Hospital and 3Hereditary CancerClinic, Department of Medical Oncology, Prince of Wales Hospital, Sydney, New South Wales, Australia

INTRODUCTIONBreast cancer is a common disease, with current esti-mates suggesting a lifetime risk to age 74 in women ofone in 14. Apart from mortality and physicalmorbidity, the diagnosis, treatment and survival ofbreast cancer have been shown to have a considerablepsychological impact. Estimates of the prevalence ofsignificant anxiety and depression vary from 12 to30% and from 10 to 27%, respectively, over the timecourse of the disease.1–4

In 1994 and 1995, two genes that are associated withthe development of breast cancer, BRCA1 andBRCA2, were isolated.5,6 In families likely to harboura mutation in one of these genes, mutation detectionfor BRCA1 and BRCA2 is now possible. Knowledgeof mutation status allows some clarification of theindividual’s own likelihood of developing (as the firstor subsequent primary) both breast and ovariancancer. It also allows children of such women toclarify their own risk status. Carriers of mutations inthese susceptibility genes have an estimated lifetimerisk of breast cancer of between 56 and 85%, and ofovarian cancer of between 15 and 50%, although theexact risks imparted are uncertain.7–9

Women with a strong family history of breast cancerwho are themselves affected by breast cancer are at

Correspondence to: A/Prof. Phyllis Butow, Blackburn Building (D06),University of Sydney, NSW 2006, Australia.Email: [email protected]

Received 27 November 2000; accepted 25 May 2001.

Internal Medicine Journal 2001; 31: 397–405


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increased risk of psychological morbidity for thefollowing reasons: (i) multiple cancer-related deathswithin the family, (ii) concern for their children’shealth, (iii) guilt about the possibility of transmit-ting a faulty gene and (iv) concern not only aboutrecurrence but of developing a second primarybreast or ovarian cancer. Genetic counselling andtesting may clarify some of these issues; however,uncertainty remains. Not all mutation carriers de-velop cancer. In addition, if no mutation is detectedit does not exclude either the presence of an as yetunidentified mutation or the development of asecond primary.

There is an emerging body of literature fromresearchers who have explored levels of psychologicaldistress both before and after genetic counselling inwomen with a strong family history of breastcancer.10–18 However, the majority of these studieshave included samples of women at moderate ratherthan high risk of developing breast cancer and, withthe exclusion of one study,17 have focused on unaf-fected women. Appropriate controls have often beenabsent. Results from these studies have been equiv-ocal, with some studies showing higher levels ofpsychological morbidity in women at high risk com-pared with normative samples and others reportingno differences between groups.

The aim of the current study was to explore baselineknowledge of breast cancer genetics and psycholog-ical adjustment in women from high-risk breastcancer families who had been previously diagnosedwith breast cancer and who were now seeking geneticcounselling and possibly testing. Changes in knowl-edge and psychological measures were explored overtime and compared with the responses of a matchedgroup of controls who had also been diagnosed withbreast cancer at a similar time point in the past, butwere not now seeking genetic counselling. Specifi-cally, it was hypothesized that:

• Women attending for genetic counselling (cases)would have more accurate knowledge about risk andgenetic testing than women with breast cancer whodid not attend for genetic counselling (controls),both prior to and after receiving counselling.

• Cases would report greater psychologicalmorbidity both prior to and after receiving geneticcounselling than controls.

• Women with daughters and with a stronger familyhistory of breast cancer would report greaterpsychological morbidity.

METHODS

Participants

Cases were recruited through Hereditary CancerClinics at two major teaching hospitals in Sydney,NSW, Australia between April 1997 and October1998. Women who had been diagnosed in the pastwith breast cancer and who were offered an appoint-ment at one of these clinics were eligible forparticipation. Because only two Hereditary CancerClinics were in operation in Sydney during the time ofdata collection, and these both participated in thestudy, cases were representative of the population ofaffected women seeking genetic counselling inSydney. Women require a medical referral to obtainan appointment at the Hereditary Cancer Clinics,from either a general practitioner or a specialist.Theycomplete a telephone interview with a genetic coun-sellor prior to their appointment, during which afamily history is obtained. Women without a familyhistory are screened out during this process, so thatalmost all attendees have a strong or moderate familyhistory of breast and/or related cancers.

Controls, who had been diagnosed in the past withbreast cancer but were not currently seeking geneticcounselling, were recruited through the Departmentsof Medical Oncology at the same two major teachinghospitals. Using the database from the oncologyclinics of each hospital, appropriate controls werematched roughly to subjects based on age (within5 years) and time since being diagnosed with breastcancer (< 1 years, 1–5 years, 5+ years).

Women were ineligible for participation if they wereunder 18 years old, had limited literacy in English orhad a current psychiatric condition (were takingpsychotropic medication or attending a psychiatricclinic).

Procedure

Familial cancer clinic staff invited women to partici-pate in the study during the preclinic telephone call.The research coordinator then contacted each womanby telephone to discuss the project. Baseline ques-tionnaires were sent out by mail, to be completed andbrought in to the first appointment at the clinic. Atthis appointment, most patients had blood taken for agenetic test; a small number delayed or declinedgenetic testing for individual reasons. All patientswere sent the second questionnaire with reply paidenvelope by mail either 2 weeks after blood was takenfor genetic testing or, if that had not yet occurred,

399Genetic counselling in breast cancer

within 2 months of the initial appointment. The finalquestionnaire (long-term follow up) was sent 4–6months after the initial appointment. Reminder callswere made as required.

A structured telephone interview of approximately20–40 min was carried out, following completion ofthe final questionnaire, with women who hadobtained genetic counselling. The purpose of theinterview was to obtain qualitative data on the psy-chological impact of genetic testing in areas notcovered by the questionnaires and to explore ingreater depth all issues pertaining to genetic testing.Interviews were continued until no new themesemerged over three consecutive interviews (samplingceased after 16 interviews).

Data were obtained from controls in a similar way.Following a letter signed by their oncologistinforming controls of the study, the research coordi-nator contacted the women by phone.They were sentthe consent form and baseline questionnaire, whichwere completed and returned using a prepaidenvelope. All three questionnaires for each controlwere sent out within 1 month of the correspondingquestionnaire being sent to the matched subject,where possible. The present study was approved bythe University of Sydney Ethics Committee.

Measures

Questionnaires for each group were identical, exceptfor several questions on the case questionnaire refer-ring to reasons for undergoing genetic testing, whichwere not relevant to controls.

Demographic and disease information

Questions referred to age, marital status, educationalachievement, age and gender of children, date of diag-nosis and number of first-degree relatives (FDR) andsecond-degree relatives (SDR) with breast or ovariancancer.

Depression

This was measured using the Beck Depression Inven-tory (BDI),19 a 21-item scale designed to measureseverity of depression.The BDI has been found to bereliable with Cronbach’s alpha exceeding 0.80 indifferent studies.19 Scores range from 0 to 63.

Anxiety

Both specific and general levels of anxiety wereassessed using the State–Trait Anxiety Inventory

(STAI),20 which consists of two separate 20-itemscales, each with scores ranging from 20 to 80. TheTrait scale measures relatively stable individual differ-ences in anxiety proneness, while the State scaleaddresses more transitory anxiety.The STAI has goodpsychometric properties and has been used exten-sively with both clinical patients and research groups.

Cancer-specific anxiety

This was measured using the Impact of Event Scale(IES),21 a 15-item scale that measures intrusive andavoidance responses in relation to a specific stressor, inthis case concern about breast cancer. Both subscaleshave been found to be highly consistent, withCronbach’s alpha scores of 0.78 and 0.82, respectively.

Knowledge about genetic testing

Knowledge was assessed using a nine-item true–falsescale, adapted from a scale developed by Lerman etal.17 and tested in the clinical setting at the HereditaryCancer Clinic, Prince of Wales Hospital. One pointwas given for each correct answer and these weresummed for a total score.The scale has been found tohave a moderately high internal consistency, with aCronbach’s alpha of 0.59 in a sample of 461 unaf-fected women from high-risk breast cancer families(B. Meiser et al., unpubl. data, 2000).

Perceived importance of benefits of undergoing genetictesting

Subjects indicated their agreement to a series ofstatements giving reasons for having a genetic test.The items used have been adapted from measuresdeveloped by USA17 and British14 researchers in thefield of genetic testing for breast cancer.

Perceived importance of limitations of genetic testing

This scale has been used previously with a NorthAmerican sample.17 Subjects indicated level ofconcern from ‘not at all’ to ‘very’ for five commonconcerns about genetic testing. Scores were summedto give a total score.

Statistical analysis

Descriptive statistics were used to characterize thesample in terms of sociodemographic and familyhistory data and psychological characteristics.

Analysis of continuous variables at baseline confirmednormal distributions for the entire sample for knowl-edge, Intrusion scale (IES), Avoidance scale (IES) and


Randall et al.400

Trait anxiety (STAI). State anxiety (STAI) and totalscores on the BDI were non-normal. Square roottransformations produced normality.

Differences between cases and controls at baselinewere explored using univariate statistics (Student’s t-tests and χ2 tests) within the SPSS statistical package(SPSS, Chicago, IL, USA).

Differences between groups over time were exploredusing repeated measures linear regression using MLWIN

version 1.02 (Institute of Education, London, UK).22

A range of outcome variables were tested for groupeffects (cases vs controls) and time of assessment,controlling for demographic and disease variables.Outcome variables included cancer-specific and stateanxiety, depression and knowledge. Independent vari-ables included age, marital status, education, numberof FDR and SDR with breast cancer, number ofdaughters and time since diagnosis.

Times of assessment (baseline, short-term follow upand long-term follow up) were entered as dummyvariables, using baseline as the reference group.Group, time of assessment and an interaction termbetween group and time of assessment were includedin all analyses. Demographic and disease variablesfound to be significant in univariate models wereincluded in the multivariate models.

During the structured interviews, detailed notes weretaken. The content of responses was analysed andplaced into comprehensive and mutually exclusivecategories developed during the coding process.

RESULTS

Thirty-five women presenting at family cancer clinicswere identified during the recruitment phase at thetwo sites as being eligible for the study and all agreedto participate. Of these, 34 (97%) presented forgenetic counselling. Of these, 27 (77%) had bloodtaken for genetic testing and five (14%) chose not tohave testing for a variety of personal reasons,including a belief that testing would not providesubstantial benefit,2 lack of consensus within thefamily2 and a preference ‘not to know’. Demographicand disease features of the women who declinedtesting, in comparison to those who accepted testing,are shown in Table 1. Two cases (6%) dropped outfollowing the first questionnaire, and their genetictesting status is unknown. However, these womenwere included in the analysis. None of the womenreceived a test result during the study period. Demo-

graphic and disease details for the entire sample ofcases recruited are available in Table 1. Twenty-ninecases (90%) returned the short-term follow-up ques-tionnaire, while 23 (72%) completed the long-termfollow up.

From the women identified as possible matches forcontrols, 40 were deemed suitable by their physiciansto participate. From these, 30 (75%) were enrolled,seven (19%) could not be contacted and three (8%)declined to participate due to lack of interest. Twopatients (7%) dropped out in the early stages of theproject. Demographic and disease details for thisgroup are available in Table 1. Twenty-six controlscompleted short-term follow up (87%) and 25completed the long-term follow up (83%).

This sample size was disappointing. Initial power esti-mates had suggested that 35 patients in each groupwould allow a difference of one knowledge pointbetween groups to be identified, with a power of 80%and a significance of 0.05. However, patient numbersin the clinics during the study period were lower thanexpected. Thus, non-significant results may reflectlack of power.

Comparisons at baseline

Demographic information

Cases did not differ significantly from controls on age(t58 = 1.20, P = 0.237) or time since diagnosis(χ2 = 0.129, P = 0.937), which was expected giventhat cases and controls were roughly matched on thesevariables. Furthermore, the two groups did not differon educational level or marital status (χ2 = 0.799, P =0.371 and χ2 = 0.681, P = 0.409, respectively). Caseshad significantly more daughters (χ2 = 5.545, P =0.018) than controls and a greater number of FDRand SDR with breast cancer (χ2 = 21.36, P = 0.000and χ2 = 4.261, P = 0.039, respectively). These areboth expected characteristics in a group of womenmotivated to undertake genetic testing.

Outcome variables

There was a trend towards statistical significance ontotal knowledge about genetic testing at baseline(t57 = 1.71, P = 0.087). Cases correctly answered, onaverage, 5.4 items out of nine, while controls averaged4.4 correct items (see Table 2). Items particularlypoorly answered included the incorrect statement thata genetic test for breast cancer will also detect otherabnormalities and the correct statement that there ismore than one gene for breast cancer.



The groups did not differ significantly at baseline onany measure of psychological adjustment (see Table 3).Using standard criteria, eight cases and seven controlswould be classified at baseline as mildly depressed(scores 10–19), with two cases and three controlsmoderately depressed.19 State anxiety scores werecomparable to those of the general population.21

Benefits and concerns

Data regarding the perceived benefits of genetictesting were obtained from cases only. Cases regardedthe following reasons for genetic testing as very impor-tant: (i) to help research (93%), (ii) to learn about riskfor their children (84%), (iii) to be certain about theirrisk status (74%) and (iv) to plan for the future (66%).Cases were less interested in having genetic testing tomake child-bearing decisions (12%).

Total scores for concerns about genetic testing werecompared between groups at baseline. Cases had asignificantly higher degree of concern about genetictesting than controls (t56 = 2.54, P = 0.014), althoughlevels of concern in cases were not generally high(X = 2.355, SD = 1.924, range = 0–6). The mostcommon concerns included: (i) not trusting thetesting process to give an accurate result and (ii) theemotional effect that a test result may have on familymembers. Two women noted concern during inter-view that genetic testing may have a negative impactin terms of receiving medical insurance.

Comparisons across time

Mean scores and standard deviations for eachoutcome measure, per group and across time, are


Table 1 Demographic and disease details of participants

Cases tested‡ (N = 27) Cases declining testing (N = 5) Controls (N = 28)

Age group25–35 years 3 (11%) 2 2 (7%)36–45 years 9 (33%) 0 9 (32%)46–55 years 13 (48%) 2 10 (36%)56–65 years 2 (7%) 1 6 (21%)Over 66 years 0 0 1 (4%)

Time since diagnosis†

Less than 3 months 3 (11%) 1 0 (0%)3–12 months 5 (19%) 1 8 (29%)1–5 years 12 (44%) 0 10 (36%)Over 5 years 7 (26%) 2 9 (32%)

Metastatic disease 2 (7%) 0 0Marital status†

Single 2 (7%) 1 4 (14%)Married/de facto 21 (78%) 3 19 (68%)Divorced/separated/widowed 3 (12%) 1 4 (15%)

Education level†

Prior to/in receipt of School Certificate 14 (52%) 2 6 (21%)HSC/Leaving 1 (4%) 1 7 (25%)Tertiary 11 (41%) 2 15 (54%)

Daughters†*Yes 19 (70%) 3 12 (43%)No 6 (22%) 2 16 (57%)

Number of FDR†**0 10 (37%) 1 27 (96%)1 11 (41%) 2 1 (4%)2 5 (19%) 0 03 0 1 0

Number of SDR†*0 17 (63%) 3 25 (89%)1 6 (22%) 0 2 (7%)2 3 (11%) 1 1 (4%)

†Variations in sample size are due to missing data. ‡Cases refused testing were not included in quantitative analysis. *P < 0.05;**P < 0.001. HSC, higher school certificate; FDR, first-degree relatives; SDR, second-degree relatives.

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presented in Table 3. Age and education level werefound to be related to knowledge in univariateanalyses and were included in the multivariate modelfor this outcome. Knowledge increased non-significantly over time for both cases and controls;

however, there was a significant group by timeinteraction for the short-term follow up. This indi-cates that cases increased their knowledgesignificantly more than controls at the short-termfollow up (t = 2.7, P < 0.05). The group by time


Table 3 Means and standard deviations across time per group

Cases ControlsShort-term Long-term Short-term Long-term

Baseline follow up follow up Baseline follow up follow up(n = 32) (n = 29) (n = 18) (n = 28) (n = 26) (n = 16)

Knowledge*Mean 5.39 6.66 6.6 4.43 4.73 4.8SD 2.09 2.38 2.5 2.13 1.54 1.8

Beck Depression Inventory:Mean 8.61 8.54 8.56 9.15 8.15 11.13SD 5.72 5.44 5.86 6.81 6.14 7.64

State–Trait Anxiety Inventory (State)Mean 37.52 36.50 36.38 40.11 36.68 40.47SD 11.01 12.98 13.00 12.88 12.14 15.27

State–Trait Anxiety Inventory (Trait)Mean 36.26 37.44 36.56 41.59 40.28 40.53SD 12.88 12.46 13.02 12.05 11.18 10.60

Impact of Event Scale (Intrusion)Mean 10.55 10.07 9.41 13.18 12.31 11.13SD 8.92 9.32 8.58 10.26 7.37 7.06

Impact of Event Scale (Avoidance)Mean 11.77 11.28 11.76 13.46 12.65 11.13SD 8.92 10.59 9.69 8.90 9.38 7.83

*P < 0.05 for group by time interaction. Cases had a significantly greater increase in knowledge compared with controls.

Table 2 Frequency and percentage of knowledge items answered correctly at baseline

Cases (N = 32) Controls (N = 28)Knowledge question No. correct % Correct No. correct % Correct

Total items answered correctlyMean 5.387 60 4.429 49SD 2.092 2.133

Individual itemsBreast cancer is always inherited 26 81 21 75Men can carry a gene for breast cancer 19 59 15 54All women who have the gene for breast cancer will get

breast cancer 19 59 15 54A woman who does not have an altered breast cancer gene

can still get breast cancer 18 56 11 39There is more than one gene for breast cancer 10 31 4 14The gene for breast cancer can also increase the risk for other

cancers 17 5 38 29Mammography will always detect breast cancer 26 81 25 89A genetic test for breast cancer will also detect other abnormalities 6 19 5 18If a woman looks like, or has the personality of a relative who

has or has had breast cancer, the woman is likely to haveinherited the gene 26 81 20 71


interaction for the long-term follow up alsoapproached significance (t = 1.7, P = 0.087). Age andeducation also remained in the multivariate model,with younger (t = 2.08, P < 0.05) and better-educated (t = 2.32, P < 0.05) women having higherknowledge scores. Figure 1 shows the mean knowl-edge scores for both groups adjusted for theseconfounders across the three assessment times.

There were no significant main effects or interactionsfor group or time for any of the psychological vari-ables. Contrary to our expectation, neither havingdaughters nor having a large number of FDR or SDRwith breast cancer were associated with psychologicaloutcomes in the multivariate analysis.

Interview data

Women who had blood taken for a genetic test wereasked during a structured telephone interview howthey had responded or coped during the follow-upwaiting period. Seven of the 10 women mentionedthat they did not think about the outcome at all whilewaiting to hear from the clinic. In fact, four womennoted feeling ‘in control of their health’ as a result ofundergoing testing. One woman commented thatgenetic testing was ‘a piece of cake’ compared withbeing diagnosed with and treated for cancer. None ofthe women reported feeling frustrated or angry aboutthe delay in obtaining test results; they understood therationale for the delay and were able to put it out oftheir minds.

Those who reported feeling anxious or sad believedthat this was caused by undergoing treatment forbreast cancer rather than by waiting for a genetic test

result. Half of the sample reported obtaining signifi-cant support from family and friends and one patientreported attending a support group during this time,but this was primarily in relation to their own breastcancer. Nevertheless, three women felt that they mayhave benefited from better access to resources, suchas support for their family members or counsellingservices, while waiting for the test result. This supportwas needed to assist them in managing their ongoinganxiety about the family risk.

Two women noted increased irritability or anxiety infamily members during the period that they werewaiting for test results; these family members askednot to be told of the test result. The majority of thesample mentioned that family members had beensupportive and were showing interest in the outcomeof genetic testing.

DISCUSSION

The aim of the present study was to establish whetherwomen affected by breast cancer who come fromhigh-risk breast cancer families (cases) experiencegreater psychological morbidity than their counter-parts without a strong family history (controls).The impact of genetic counselling and testing onknowledge of cancer genetics and morbidity wasalso explored. Finally, predictors of psychologicalmorbidity were investigated.

Cases and controls had comparative levels of psycho-logical symptoms at baseline and at both short-term(approximately 2 weeks after counselling) and long-term (3–6 months after counselling) follow up,suggesting that a strong family history may notimpose additional psychological morbidity on womenalready diagnosed with breast cancer. Reporteddepression in both cases and controls in our samplewas similar to that reported by Kissane et al. for agroup of early stage breast cancer patients;23 state andtrait anxiety scores were similar to those of publishednormative samples of the general population, whilebreast-cancer anxiety, as measured by the Impact ofEvents Scale, was similar to that of a sample of unaf-fected women with a family history of breast cancerattending a genetic counselling clinic.24 Ten cases and10 controls would have been classified as displayingmild to moderate levels of depression using publishedcriteria,19 while none would have been classified ashaving severe depression.

It is possible that the observed rates of psychologicalmorbidity in cases is an underestimate of true distress


Figure 1 Knowledge scores adjusted for age and educa-tion. (�), Cases; (�), controls.

Randall et al.404

experienced. This may be the case if individuals whowere screened out as non-eligible because they wereunder psychiatric care, who refused to participate orwho failed to return all questionnaires were highlyanxious or depressed. However, no women weredeemed ineligible because they were under currentpsychiatric care, all women approached agreed toparticipate in the study and 90% participated in theshort-term follow up, suggesting that this is anunlikely explanation of the results. It is also possiblethat cases were not reporting their symptoms or thatthe measures used were not sensitive to theirsymptoms. However, further questioning at interviewsuggested that these women were not anxious or upsetabout genetic testing and its implications, but weremore focused on the positive benefits of testing.Indeed, they reported that being diagnosed andtreated for breast cancer is so stressful that under-going genetic counselling and testing, in comparison,is ‘a piece of cake’.

Levels of psychological morbidity in cases did notchange after genetic counselling and testing in eitherthe short or the long term, despite the fact that knowl-edge of cancer genetics significantly increased. Thissuggests that women previously diagnosed with breastcancer are not harmed by this knowledge. However, alimitation of the current study was the omission of themeasurement of subjective risk perceptions; thereforeit is not possible to determine whether these women’sestimation of personal risk, as opposed to under-standing of general cancer genetics, was altered bygenetic counselling. Furthermore, the sample size wassmall, and different results may have been obtainedwith a larger sample.

In considering the findings of the present study,several methodological limitations must be noted.First, the number of cases eligible for the study waslimited, due to restrictions on who seeks and can beoffered genetic testing. The relatively small samplesize may have resulted in effects being missed.However, qualitative data obtained during interviewreinforced the quantitative finding that testing wasnot considered to be a stressful event for women whohad already had to cope with the diagnosis and treat-ment of breast cancer.

Second, it is possible that affected women are moreanxious about genetic testing than was recorded here;perhaps those individuals who have high anxiety aboutthe negative sequelae of genetic testing do not presentfor genetic counselling. Controls were approachedonly after prior approval by their physicians, who may

have imposed screening criteria other than thosedefined by the study; thus, they may represent a morepsychologically robust group than the general breastcancer population.

Third, none of the women received a test resultduring the course of the project.This is a limitation ofgenetic testing with the current technology. Questionsabout psychological status of affected individuals afterreceiving a test result therefore remain unanswered. Itwas also beyond the scope of the present project todraw conclusions about the psychological adjustmentof women who declined testing, because this groupwas so small.

CONCLUSIONS

In conclusion, the present group of women previouslydiagnosed with breast cancer was not found to showadverse psychological effects when undergoinggenetic counselling and testing, providing tentativesupport for the use of this technology for this popula-tion. However, the sample size was small, and furtherresearch needs to re-examine this question in a largercohort. No assumptions can be made regarding thepsychological adjustment of this group of womenonce genetic test results become available. It willbe important to reassess adjustment at that pointto ensure that the necessary support is provided tofamilies on the receipt of test results and in the longterm. Finally, as a number of other studies haverecently reported,25 knowledge deficits about cancergenetics remained even in women who had under-gone counselling. This finding suggests the need forongoing research on optimal communication of infor-mation in this setting.

ACKNOWLEDGEMENTS

We acknowledge the assistance of Ms Bettina Meiser,who gave considerable advice on the choice ofmeasures and the design of the study and providededitorial comment on the paper. We also thankMs Judy Brown, who assisted with the statisticalanalysis of the longitudinal data. We are also gratefulto Ms Meryl Smith and Srs Margaret Gleeson andMonica Tucker for their assistance in patient recruit-ment. Finally, we thank the women who participatedin this study.

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