Family Communication and Genetic Counseling: The Case of Hereditary Breast and Ovarian Cancer

Journal of Genetic Counseling, Vol. 6, No. 1, 1997

Family Communication and GeneticCounseling: The Case of Hereditary Breastand Ovarian Cancer

In familial breast/ovarian cancer, the information that the proband is able tosupply about other family members is of critical importance for geneticcounseling. This frequently requires family communication. Forty-six womenattending a cancer genetics clinic were interviewed as part of a longitudinalstudy. Nearly all reported affected maternal, rather than paternal relatives,which may indicate lack of awareness by women with paternal histories. Therewas also much more communication among female relatives. Mothers, wherethey were still alive, were key figures in supplying family information. Althoughthe majority of the sample contacted at least one relative regarding counseling,most named a relative with whom they did not feel able to communicate onthis subject. Probands balanced the perceived obligation of passing oninformation with that of not causing alarm. Communication, both obtainingand giving information, was impeded by adoption, divorce and remarriage,family rifts, and large age gaps between siblings.

KEY WORDS: genetic counseling; family communication; breast/ovarian cancer.

Clinical genetics differs from other branches of medicine because in-herited diseases may affect several members of the same family. The patient

1Centre for Family Research, University of Cambridge, Cambridge, U.K.2Present address: Midwifery Studies, University of Leeds, 22 Hyde Terrace, LEEDS LS2 9LN,UK.

3Correspondence should be directed to Martin Richards, Centre for Family Research, Uni-versity of Cambridge, Free School Lane, Cambridge CB2 3RF, U.K.

Josephine Green,1,2 Martin Richards,1,3 Frances Murton,1Helen Statham,1 and Nina Hallowell1

INTRODUCTION

45

1059-7700/97/0300-0045$12.50/l © 1997 National Society of Genetic Counselors, Inc.

may thus be regarded as the family, not simply an individual. There is agrowing body of research which has attempted to evaluate the effects andeffectiveness of genetic counseling. Many studies have been concerned withsuch issues as the proband's understanding of the particular condition, riskinformation, knowledge of the process of inheritance or the reproductiveor other decisions that may be taken after counseling. However, despiteacknowledgment of the role of the family and family relationships in dis-cussions of the impact of genetic disease (e.g., Kessler, 1988; Kessler andBloch, 1989; Richards, 1996), little of this perception is reflected in researchon the evaluation of genetic counseling: rather the focus has been on theindividuals who have attended a clinic and their attitudes, knowledge, andsubsequent actions. Only a small number of studies have specifically con-sidered the communication of genetic knowledge, within the extended fam-ily. These have mainly concerned families with balanced translocations(Suslak et al, 1985; Wolff et al, 1989; Ayme et al, 1993), and cystic fibrosis(Denayer et al., 1992).

There is considerable variation in the situations that bring people togenetic counseling. Many come to discuss the likelihood of children inher-iting the condition and the future reproductive choices that may be avail-able. Others come because of their own concern of developing a specificdisorder in the future, or there may be a combination of issues. In mostcases, the initial genetic counseling session will include taking a family his-tory and the discussion will extend to relatives beyond the proband. An-other important distinction is between those who come because one ormore members of their family are known to be affected by a single gene(or chromosome) disorder, and those who come seeking information aboutthe likelihood that a particular family history is in fact indicative of a geneticcomponent.

This latter situation is already commonly encountered with some casesof childhood disorders such as learning disabilities, and is likely to becomean increasing part of genetic counselors' workloads as more common adult-onset diseases, such as Alzheimer's disease and some cancers, are foundto be associated with particular genetic mutations in some families. Whena diagnosis of a Mendelian disorder has already been made, the familyhistory may be little more than background material to the counseling ses-sion. But where the issue is whether or not a "genetic" disorder may bepresent, the pedigree is pivotal because it is the raw data with which thecounselor has to work in order to assess the likelihood that there is a Men-delian disorder in the family. Gaps or inaccuracies in the information sup-plied by the proband about other family members, or misunderstanding ofthis by the geneticist, can result in critical differences in the geneticist'sassessments and so counseling. Thus, the information that probands are

46 Green, Richards, Murton, Statham, and Hallowell

able to obtain about their family histories from other family members iscrucial and family communication is of key importance.

This latter situation is the one faced by women who attend counselingwith a family history of breast and/or ovarian cancer (Richards et al, 1995).Because they will be aware that the clinic session will involve issues of inheri-tance and family history, most counselees will be thinking of family issuesbefore they reach the clinic. They may also be forewarned that they will needto provide specific information about their family or there may have beentelephone or letter contact with a clinic staff member who collects some basicinformation about the family history. For these reasons, there may be in-creased family communication prior to the counseling appointment.

What is discussed in the counseling session is also likely to have im-plications for other close relatives, both male and female. So, family com-Table II. Essential Do’s and Don’ts in Conflict Resolutionadthe family history is being collected, but also after counseling when the pro-band may, or may not, pass on information to other family members. Withwhom do probands communicate? What determines whether informationis passed on? What do probands see as their obligations? These questionshave received scant attention in the genetic counseling literature. Eventhose few studies which have addressed these issues have frequently usedproxy measures such as the number of relatives coming forward for testing,rather than collecting data directly from those concerned (e.g., Ayme etal, 1993). This paper will attempt to address these questions drawing ona prospective study of women attending a genetic counseling clinic becauseof a family history of breast and/or ovarian cancer.

The sample was recruited from the Cancer Family History Clinic inCambridge (U.K.) where counseling was given by one of two cancer clini-cians with a special interest in genetics in consultations lasting about 1 hour.Clinic practice was to send counselees a form beforehand asking them tolist names of relatives who had had cancer, the type of cancer, their rela-tionship to the counselee, dates of birth, diagnosis, and death and detailsof hospitals where affected relatives had been treated.

Between February 1994-February 1995, anyone who was offered anappointment to discuss breast, ovarian or both these cancers, but who hadnot themselves had cancer, was invited to take part. During this period allsuch consultands were women. Consent forms were sent with a letter ex-

Family Communication 47

METHODS

Recruitment

plaining the research 2 weeks before the clinic appointment. Women wereonly contacted directly by the researchers when the form had been re-turned. The study was approved by the Cambridge Local Research EthicsCommittee.

Women were interviewed by telephone during the week before theirclinic appointment, and their consultation was observed. A copy of the sum-mary letter sent by the counselor after the consultation was obtained.Women were interviewed in depth at home about 8 weeks later, and again,by telephone, after 1 year. All of these interactions were tape-recorded,with consent, and transcribed. Women also completed a short questionnairea few days before the postclinic interview. Questions about family commu-nication focused both on whom the proband had spoken to and whom shehad not. All questions were openended. The key questions from the pre-counseling interview for the data presented in this paper were "Have youcontacted anyone in your family specifically to get information to take tothe clinic?" and "Was there anyone else in the family who might have beenable to help you but who you didn't feel able to approach for information?"These questions were often explored again in the much more detailed post-counseling interview. Most information about postcounseling communica-tion, was elicited by the initial question "Who have you shown the [clinic]letter to?" Our other data sources have been drawn on as necessary forbackground information.


Data Collection

The Sample

Fifty nine eligible women were invited to participate, 46 of whom tookpart. Five did not reply and eight refused. Among the refusals were womenwho would have taken part in some part of the study but who either didnot want to be tape-recorded or who did not want us to observe the con-sultation. Two other women agreed to take part but have been excludedfrom the data presented here because they were returning to clinic for fol-low-up consultations. Two women declined to be interviewed postclinic, andin a further four cases we deemed a follow-up interview to be inappropri-ate, for example because of a recent family death. Thus, data presentedhere is based on 46 preclinic and 40 postclinic interviews. The clinic ap-pointments were invariably offered to an individual person. While they werenot discouraged if they asked, there was no suggestion to them that otherblood relatives might accompany them. In one consultation two sisters at-tended together, in another, a daughter sat in on her mother's consultation

and, in a third, an affected mother accompanied her daughter. Only theindividual who had been given the appointment was interviewed for ourstudy, and none of these women were related to each other.

The 46 women reported a total of 132 relatives affected by breast orovarian cancer (mean 2.9, range 1-8), and a further 77 affected by othercancers. Only 13 women (28%) reported any cancers in paternal relativesand only four (9%) reported breast or ovarian cancer in paternal relatives.There was only one woman in the sample (GC12) who reported no ma-ternal relatives with breast or ovarian cancer, although another (GC14) hada strong paternal history and no affected maternal relatives except hermother who had developed ovarian cancer at age 68. The most commonlyreported relatives affected by breast or ovarian cancer were mother, sis-ter(s), maternal grandmother, and maternal aunt (see Table I). Asymmetryin the reporting of maternal rather than paternal history is to be expectedsince those with a paternal history are very unlikely to have an affectedparent and their affected relatives are necessarily more distant. However,if we consider only those 14 women without affected mothers, the asym-metry persists. Three had only affected sisters. The remaining 11 reportedeight sisters, ten maternal aunts, five maternal cousins, two maternal grand-mothers, but only one paternal aunt and one paternal grandmother. Theirmean number of affected relatives is, as might be expected, lower thanwomen with affected mothers: 2.5 compared with 3.2.


Demographic

Family History

All women were Caucasian. Forty-two were married or living as mar-ried, with three divorced or separated and one not married. Of the 44women for whom the data is available, 23 (52%) had completed full-timeeducation by the age of 16, 11 (25%) had further education up to the ageof 18, and the remaining ten (23%) were educated beyond age 18. Onlyten of the 45 women for whom data is recorded were not in paid employ-ment; 12 (26%) had worked at some time in a job with a medical connec-tion (e.g., doctor, nurse, medical receptionist).

Mother's Survival Status

Given the earlier onset of inherited breast/ovarian cancer, the majorityof the sample did not have living mothers: 14 had died of ovarian cancer,

eight of breast cancer, and five of other causes (stomach cancer, colon can-cer, stroke, heart disease, "old age"). Women whose mothers were still alive(N = 19) were slightly younger than women whose mothers had died ofbreast or ovarian cancer (N = 22): mean 34.0 years (range 24-48), cf. mean39.3 years (range 28-59). Women whose mothers had died of other causes(N = 5) were considerably older: mean 52.2 years (range 48-54). All butone of the women in this latter group had had a member of their owngeneration affected by breast or ovarian cancer; this was true for half thewomen in each of the other two groups (9/19 and 11/22). Of the 19 sur-viving mothers, five had themselves had breast cancer, and five ovariancancer. Six were now well, but four were terminally ill (one with breastcancer, three with ovarian).

Verbatim transcripts were coded according to pre-defined categoriesbased on questions asked, using the Textbase-Alpha package which facili-tates categorization. After this initial coding, themes were identified withineach category (Pope and Mays, 1995).


Table I. Cancer Family History of the Sample (N = 46)

N

Total no. of relatives reported with breast or ovarian cancerTotal no. of relatives reported with other cancersWomen reporting any cancer in a paternal relativeWomen reporting breast or ovarian cancer in a paternal relativeMother affected by breast or ovarian cancerAt least one sister affected by breast or ovarian cancerMaternal grandmother affected by breast or ovarian cancerAt least one maternal aunt affected by breast or ovarian cancer

13277

13 (28%)4 (9%)

32 (70%)14 (30%)16 (35%)18 (39%)

Siblings

Four women had no living siblings. Thirty (65%) had at least one livingsister and 30 (65%) had at least one living brother.

Children

Six women had no children, and a seventh was pregnant with her firstchild. Of the other 39, 31 had at least one daughter and 29 at least oneson. Most daughters were still children, but 16 were aged 16 or over.

Data Analysis

Thirty-six of the 46 subjects (78%) approached at least one relativefor information before going to the clinic. A significant variable was thesurvival status of the proband's mother.

Women Whose Mothers Had Died Less Recently

For the 23 women whose mothers had died more than 18 months ago,information was most frequently obtained from: sisters (seven cases, ten

Women Whose Mothers Had Died Recently

Four mothers had died within the past 18 months and in three cases(GC1, GC2, GC22), they had been the key informants. These mothers hadmade a point of passing on details of relevant family history to their daugh-ters before they died. GC22's maternal aunt had also been involved in theprocess and accompanied her to the clinic. However, in the other case ofa recent maternal death (GC9), where the only other family history was amaternal grandmother, no one was approached, although the proband ex-pressed the intention of contacting her maternal grandfather.

Women with Living Mothers

Of the 19 women with a living mother, 14 approached only theirmother for information and five approached no-one. Thus, no woman witha living mother approached any other relative for information. Two of thosewho did not approach anyone were distant from their relatives, includingtheir mothers, both geographically and emotionally (GC8, GC12). GC12was also the one woman in the sample with no affected maternal relatives.In two other cases, the mother was terminally ill (GC19, P03) and the re-maining woman felt unable to raise it because her sister had recently died(P06). For the other 14 women with living mothers, the mother was thekey informant. Mothers did not necessarily have all the requisite informa-tion themselves, but often approached other relatives on the proband's be-half. This could be inhibiting if the mother felt unable to approach aparticular relative: in one case (GC13), the proband specifically mentionedthat "it would encroach on Mum's sort of territory" if she were to approacha cousin of her mother's directly.

Obtaining Information

RESULTS


sisters), cousins (six cases, six female cousins, two male), and aunts (threecases, three aunts). Information was also obtained from a father (twocases), a mother's female cousin, and a sister-in-law. Female relatives werethus much more likely than males to be asked for information; women inthis group reported approaching 21 females and four males. Seven women(30%) in this group approached no-one for information.

Aunts were most frequently mentioned as potential sources of infor-mation, especially about the proband's grandmothers and earlier relatives(e.g., great-aunts, great-grandmothers) but, as we shall see in the next sec-tion, they were not always approached.

Although most probands sought information from someone, 23 of the46 subjects (50%) reported at least one potential informant whom theyhad felt unable to question. The reasons for this, in various combinationswere: the person is old or ill (either with breast/ovarian cancer or unrelatedillnesses); not wanting to upset people with painful memories; not gettingon with a stepparent or in-law; not being close to siblings because of a bigage gap; having lost touch with that branch of the family. There seemedto be particular difficulties if any of these reasons applied to someone whowas male, for example the widower of an affected relative.

I don't know whether my father knows all about it, but I didn't really want to bringit up with him, to be quite honest, although it's been a long time since my mother'sdeath, I don't feel he's the person to talk to about it. (GC10)

My stepfather who my mother was married to before she died, has moved [abroad]now, and we don't get on that well . . . . (GC17)

I have an aunt who I—well, she's 91, and she's probably the only one who knowsexactly what my grandmother died of ... and at the age she is, I didn't really wantto discuss it with her, you know. She might find it upsetting. (GC2)

My parents are quite old and, you know, that generation didn't talk about things.(GC12)

In addition, there were a number of other cases of communication diffi-culties. In one case (GC3), the proband's GP had specifically told her notto mention her forthcoming clinic appointment to relatives so as not toalarm them. She had, therefore, not felt able to ask her older sister forinformation. In another case, (GC34), where the proband's sister had re-cently died, she asked her mother for information about other relativesunder another pretext, to avoid distressing her by raising the subject ofcancer with her directly.

Factors Inhibiting Asking for Information


Family Communication S3

Adequacy of the Family History Information Obtained

The histories with which women arrived at the clinic were generallyadequate as a basis for counseling, but there were inevitably gaps, and theadvice given frequently had to make assumptions about the causes of deathof key relatives. As we have reported elsewhere (Hallowell et al., 1997)some women were concerned that they could not be given a definitive riskestimate because their family history was incomplete.

Requirement for Communication with Family MembersRaised in the Consultation

In the course of the consultation and again in the summary letter, thecounselors sometimes indicated the desirability of seeking the cooperationof relatives or informing them of what the implications were for them. Inall cases, it was made clear that this would be at the discretion of the pro-band and that no relatives would be approached direct until she had ob-tained their agreement.

There were three principal ways in which the involvement of relativeswas suggested:

1. To obtain information on where an affected relative had beentreated in order that correct diagnosis may be obtained from hos-pital records (N = 5/46, 11%).

2. Recommendations for screening to include certain relatives byname (N = 10/46, 22%).

3. Blood samples requested from affected relatives for research pur-poses or to be stored in anticipation of future genetic testing. (N= 16/46, 35%).

In 22 (49%) of the consultations, there was no indication for commu-nication with other family members, other than, where appropriate, men-tion of implications for daughters.

Postcounseling Information Giving

By the time of the first follow-up interview, probands had all receiveda letter from the clinic summarizing the information given. All were askedwho they had shown the letter to. Most (35/40) had either shown the letteror described its contents to at least one relative.

In one case the proband regarded herself explicitly as a representativefor the family and so took it for granted that she would pass on whateverinformation she received.

I've got two other sisters who are older, and although I'm the guinea-pig in all this,the facts that you've given me are totally relevant to them, because they're on thesame line, so to speak . . . having had a letter about [sister], I'm going to pass thatover to them. (GC24)

While that position was unusual, many of the probands still had clear ideasabout their duties to inform other family members. Many expressed theview that their relatives had the right to know, especially those of the nextgeneration.

Given that I have a seventeen year old daughter, I feel sort of an obligation to lether know what kind of risks she's facing and what kinds of things she might wantto look for and watch out for. (GC8)

They also had clear ideas about who should pass on information.

I think that her mum is totally aware of what's going on and it's her responsibilityto make sure [that her daughter knows]. (GC25)

But some anticipated difficulties for the appropriate person in passing onthe information.

She [affected sister]'s probably a lot more aware of it than I can be. But she's alsosomebody who tends to smooth things over and doesn't like to talk about them . . . .So I think I'm concerned that she might not discuss it with her daughter. (GC15)

This raises the question of the clinic's role in facilitating communication.

I: Would you like any help from, say, the clinic, or people associated with the clinic,in contacting members of the family? Or do you think it's something you'd ratherdo?R: Um ... I personally think it would be a brilliant idea if you could write to[nieces]. But they would think where the hell's this come from? Who are thesepeople? (GC15)

The perception of a duty to inform was heavily tempered by a concern notto upset.

It's very difficult ... my cousin may not want to know about cancer. Or if she does,she may not want to talk about it with me, necessarily. So it's an area that I have totread very carefully, because I don't really want to upset or alarm her. (GC36)

The desire not to upset or alarm was one of the major determinants ofthe likelihood of information being passed on, because people were awarethat the context in which information is given is itself part of the message.

I would like to show [the clinic letter] to my brothers, but I thought it was—I amalways accused of being melodramatic, and I thought suddenly, because I havedecided I want to participate in research, to start sending photocopies of longcomplex letters seemed a bit inflammatory really. (GC13)

Letters and phone calls tended not to be seen as suitable ways of givinginformation to relatives who are not in close contact.

I think it would be better if it was spoken rather than a letter, because a letter isfrightening, because you think—if I thought those girls [nieces] weren't doing


anything [i.e., having screening] and I was told that they are really at a high risk,I think in conversation I would say to them, do you have these checks that areavailable, you know? They are really a good idea. That's what—I think I wouldbring it up in a light way with them. (GC4)

She [niece] isn't on the phone at the moment so that's the difficult thing, and Idon't really want to write it in a letter. I'd rather see her and speak to her andsay, look, you know, I'm not saying, oh my God, you're going to get cancer, orwhatever. All I'm saying is, it's best to go and see somebody. (GC17)

Information was most likely to be passed on when it could be integratedinto communication that would be taking place in any case. This was mostlikely where family members met face to face.

I did get [clinic letter] photocopied and I did take it with me to my mum thefollowing weekend when I saw her again. (GC28)

Conversely, where there was social and/or geographical distance betweenrelatives it was less likely that information would be passed on.

R: Since I don't at the moment live with my mother, I just haven't really got roundto it [showing her the clinic letter].

I: Right, but you've told her?

R: Oh yes, absolutely, yes. It's just through circumstances that I haven't shown her,not because I'm withholding the information. (GC36)

With this in mind, a number of probands were contriving a meeting,

When I go up and see my sister ... I will try and make a point of getting overto see [brother] as well, because I think if I was talking to him face to face I mighthave better luck. (GC17)

Another solution adopted by some was to wait until a family gatheringoccurs for some other reason or to include the information with a regularcommunication like a Christmas letter. In both cases the aim was to reducethe possible alarmist effect of contacting relatives solely for the purpose oftelling them of their, or their children's, possible cancer risk.

Although virtually all probands told at least one relative about whatthey had been told at clinic, nearly all also had at least one first or seconddegree relative that they were not intending to inform. The most commonreason for this was not being in touch with those relatives. This in turncould often be traced to the family history of cancer, for example, siblingsbeing separated and/or remarriage following a mother's early death, or fam-ily rows about the way people had behaved during a relative's final illness.In most cases probands did not seem to feel an obligation toward thoserelatives with whom they were not in touch, but there were exceptions,especially for daughters and nieces. One woman was prepared to trace adaughter given up as a baby for adoption should she be shown to be acarrier of a dominantly inherited genetic mutation. Another felt a respon-sibility toward the daughter of her estranged sister:


I don't feel in a situation where I can approach my sister [affected with breastcancer], and I don't know where my niece is. ... My elder brother, whom I geton with very well, and I do talk to my elder brother about this, feels that may beit would be better if it came from him. So he's going to come one day and pickthe letter up and talk to me about it, and then go and see my sister. (GC15)

Passing information to male relatives was often seen as particularly difficult,and not all probands understood why the information might be relevant.

The other aunt who had cancer, her son, well, he's not going to get breast or ovariancancer, is he? Men don't get breast cancer, do they? (GC25)

That men can carry such an essentially female disease is counterintuitive,and a number of women felt frustrated in their attempts to explain thesituation to their brothers.

Telling my brothers that they can carry the gene, and therefore their daughtersshould start to be aware, not worried but aware, was really important because it'sassumed that it's nothing to do with them. (GC13)

This phrase "not worried but aware" reiterates the theme of needing togive information without being alarming.

The data presented in this paper make it clear that, even if only oneperson attends, genetic counseling is a family affair. The act of coming forgenetic counseling may itself be a result of family discussion about the dis-order, but, whether or not this is the case, nearly all probands had con-tacted someone in the family for information. However, the requiredinformation is sometimes only available from relatives who are elderly andwho may themselves be ill. Furthermore, they may be perceived as beinga generation who "didn't talk about that kind of thing," in fact, there is adouble taboo both regarding cancer and reference to reproductive parts ofthe female body. There are additional difficulties, for example, where thesource of possible information is the widower of an affected relative, e.g.,an uncle-by-marriage. Family communication is likely to have declined afterthe death of his wife (i.e., the blood relative) and he may have remarried.All this may make a critical difference to the information that the probandbrings with her to the clinic, which is the only data that the counselor hasto work with.

Mothers, where they are still alive, are vital players, not only becausethey often have the requisite information, but also because they are thelink with other relatives of the previous generations. It is striking that noneof the 19 women with a living mother approached any other relative. Po-tentially, this could inhibit the acquisition of accurate information.


DISCUSSION

The sample involved in this study presented with many more affectedmaternal relatives than paternal. Some imbalance is to be expected sincethose with a paternal history cannot have an affected parent and their af-fected relatives are therefore usually more distant. However, the imbalancewas still present for women without affected mothers, for whom there oughtto be equal numbers. It is likely that this is a result of breast/ovarian cancerbeing female disorders, and, as we have suggested elsewhere (Green et al.,1993), women do not see their paternal relatives as being relevant since itis counterintuitive that female disorders should be passed on by males.However, one implication of this is that there are women with indicativepaternal family histories who are not presenting at the clinics because they(or their doctors) have not realized the significance of their family histories.

There was also much more communication with female relatives thanwith male, reinforcing the idea that women are the "kin-keepers." We hadthought that there might also be an overrepresentation in the sample ofwomen with daughters, as opposed to sons, since concern for daughterswas often mentioned as a reason for attending the clinic (Statham et al.,1996), but this was not the case. Neither were there more women withliving sisters as opposed to brothers. While sex is clearly an important di-mension in the transmission of genetic information, our particular datamust be generalized from with great caution because we are dealing withan essentially female disorder. It remains as a question for future researchwhether the sex differences that we have observed are also present for dis-orders that are not sex-linked.

The majority of women in this study passed on information to some rela-tives. The spread of information may be fast or may take place slowly overmany months or years as family members meet through the usual round offamily events. A dramatic example of the first was a woman who sent copiesof the postcounseling letter to every known member of her kinship. Moreusually, as our examples have shown, probands will take a more cautious ap-proach to dissemination. It is a process which involves a balance between theperceived obligations of, on the one hand giving information, and, on theother, not causing alarm. In many cases the balance is very delicate. Com-munication, both obtaining and giving information may be impeded by adop-tion, divorce and remarriage, family rifts, and large age gaps between siblings.All of these were observed in our sample. Where a mother has died young,as may well be the case with breast and ovarian cancer, there is an increasedlikelihood of all of these family disruptions. Women are then doubly de-prived, since they may also have difficulty obtaining information about therest of the family without their mother as a communication link.

It should be clear that all genetic counseling is likely to have effectson family members beyond the proband whether or not the counselor in-


tends this. Any counselor who thinks that information will not be passedon, or who tries to prevent it, is being unrealistic. Given this, counselorswould be well advised to consider what information they would like to betransmitted and to whom and to discuss how this might be achieved withthe proband. One strategy would be to encourage other relatives to attendthe initial consultation. This would give the counselor more control overwhat information is given and reduce the chances of the message gettinggarbled. While this may be efficient in terms of clinic time as it may savefurther appointments for other family members, it can give rise to difficul-ties in counseling especially if the different family members have adopteddifferent coping strategies, perhaps with one seeking a great deal of infor-mation while the other takes a more avoidant strategy of learning a nec-essary minimum.

Another course of action for the counselor is to accept that the lettersummarizing the consultation will be shown to other relatives and to writeit with that in mind.

A variant is to write the proband two letters: one that is a generalfamily letter to be shown to others and another that is specific to her, basedon the particular issues raised in the consultation. This overcomes the prob-lem of the proband's confidentiality. The general letter could possibly bereplaced by a leaflet or booklet, such is currently being developed underthe auspices of the European Consortium on Breast and Ovarian Cancer(Jackson and Ponder, 1996). Another variant is to send probands a leafletbefore their clinic appointment, which may result not only in more focusedpreclinic family communication, but also a less one-sided consultation.

Though very time-consuming, the counselor could, on request, alsowrite personalized covering letters for other relatives, e.g., daughters, ex-plaining the implications for them and the options for action. The probandcan be asked who she intends to show the letter to, or the counselor canbe more directive and indicate to her who he thinks should be shown it.Counselors tempted by the more directive course should, however, bear inmind the proband's need to maintain the balance between information andalarm; they can only advise. If there are relatives that counselors feelstrongly should be informed, then, in many cases, probands are going toneed help with this task.

Although direct contact from the genetics department without prepa-ration is unlikely to be seen as desirable, there are still ways in which coun-selors could perhaps do more to help probands to communicate with theirrelatives. Certainly, counseling could (and often does) include a discussionof those relatives who might be told, and their likely reactions, and thecounselor could suggest ways of coping with anticipated difficulties. Un-derstanding of family systems theory should inform genetic counselors of


the family (as well as individual and marital) processes which facilitate orimpede seeking genetic information and acting on it (Eunpu, 1997). Someclinics have genetic nurses who maintain contact after counseling, and it islikely that they could usefully be involved in the process, particularly forthose probands who are hesitant about being able to reproduce any tech-nical explanations that they have been given.

The data presented in this paper suggests that probands recognize aduty upon themselves to inform relatives of genetic risks. Some were pre-pared to go to some lengths to meet that responsibility. We have not raisedthe possibility of someone who refuses to allow information to be passedto relatives, since we did not encounter this. This is an issue that has re-cently received consideration in the U.K. by both the Nuffield Council onBioethics (1993) and the House of Commons' Science and TechnologyCommittee (Third Report, 1995). The Nuffield report recommends that ifcounselors are unable to persuade counselees to share important informa-tion with other family members to whom it may have serious implications,they should be free to override the individuals' desire for confidentiality.We have suggested (Richards and Green, 1996) that such a principle runsthe risk of bringing both genetic counseling and medical confidentiality intodisrepute as well as failing to take family processes into account. Counselorscannot assume that family members who counselees may not wish to informabout a genetic condition would necessarily want to have the information.The House of Commons Science and Technology Committee's report, alsoreject's Nuffield's conclusions. "If counseling cannot persuade someone toconsent to share information with their relatives the individual's decisionto withhold information should be paramount" (para 228).

At present, in the absence of genetic testing for most families with ahistory of breast and ovarian cancer, probands are able to do no more thanconvey some notion of probability of risk to other family members. Thesituation for counselees and their relatives will change fundamentally inthe future when they will be faced with options for genetic testing. Womenwishing to be tested will not only need to obtain information but will alsoneed to ask affected relatives, who may be seriously ill and/or elderly, toprovide blood samples (Ponder and Green, 1996). Individuals will need todecide whether they would want the information that testing could givethem, not only for themselves but for their children as well.

We would like to thank Professor Bruce Ponder and Dr. Charis Engfor access to their clinic and their patients. This research was supported

ACKNOWLEDGMENTS


by a grant from the Medical Research Council. An earlier version of thispaper was presented to a meeting of the Cancer Family Study Group inManchester, England on June 8, 1995.

Ayme S, Macquart-Moulin G, Julian-Reynier C, Chabal F, Giraud F (1993) Diffusion of in-formation about genetic risk within families. Neuromusc Disord 3:571-574.

Denayer L, De Boeck K, Evers-Keibooms G, Van den Berghe H (1992) The transfer of in-formation about genetic transmission to brothers and sisters of parents with a CF child.Birth Def 28(1):149-158.

Eunpu DL (1997) Systemically based psychotherapeutic techniques in genetic counseling. JGenet Counsel, 6:1-20.

Green J, Murton F, Statham H (1993) Psychosocial issues raised by a familial ovarian cancerregister. J Med Genet 30:575-579.

Hallowell N, Murton F, Statham H, Green J, Richards M (1997) Women's need for informa-tion before attending genetic counselling for familial breast or ovarian cancer: A ques-tionnaire, interview and observational study. Brit Med J 314:281-283.

House of Commons Science and Technology Committee (1995) 3rd Report. Human Genetics:The Science and Its Consequences (Vol. 1). London: HMSO.

Jackson A, Ponder BAJ (1996) Breast cancer in families: Information leaflet and booklets forthe public and for nonspecialist doctors (in preparation).

Kessler S (1988) Invited essay on the psychological aspects of genetic counseling. V Prese-lection: A family coping strategy in Huntington disease. Am J Med Genet 31:617-621.

Kessler S, Bloch M (1989) Social system responses to Huntington disease. Fam Proc 28:59-68.Nuffield Council on Bioethics (1993) Genetic Screening Ethical Issues. Nuffield Council on

Bioethics, London.Ponder MA, Green JM (1996) BRCA1 testing: Some issues in moving from research to service.

Psycho-oncology 5:223-232.Pope C, Mays N (1995) Reaching the parts other methods cannot reach: An introduction to

qualitative methods in health and health services research. Brit Med J 311:42-45.Richards MPM (1996) Families, kinship and genetics. In Marteau T, Richards, MPM (eds)

The Troubled Helix: Social and Psychological Implications of the New Human Genetics.Cambridge: Cambridge University Press, pp. 249-273.

Richards MPM, Green JM (1996) Genetic Screening, Counselling, Consent and Family Life.Proceedings of a Symposium on Genetic Screening, Centre for Medical Law and Ethics,King's College, London and the Nuffield Council on Bioethics, London, March 22, 1994.

Richards MPM, Hallowell N, Green JM, Murton F, Statham H (1995) Counseling familieswith hereditary breast and ovarian cancer: A psychosocial perspective. J Genet Counsel4:219-233.

Statham H, Green JM, Hallowell H, Murton F, Richards MPM (1996) Genetic counsellingfor breast and ovarian cancer: Why do women attend? (submitted for publication).

Suslak L, Price DM, Desposito F (1985) Transmitting balanced translocation carrier informa-tion within families: A follow-up study. Am J Med Genet 20:227-232.

Wolff G, Back E, Arleth S, Rapp-Korner U (1989) Genetic counseling in families with in-herited balanced translocations: Experience with 36 families. Clin Gene 35:404-416.

REFERENCES


Documents

Family Communication and Genetic Counseling: The Case of Hereditary Breast and Ovarian Cancer