Women's need for information before attending genetic counselling for familial breast or ovarian cancer: a questionnaire, interview, and observational studyBMJ 1997; 314 doi: https://doi.org/10.1136/bmj.314.7076.281 (Published 25 January 1997) Cite this as: BMJ 1997;314:281
- N Hallowell, research associatea,
- F Murton, research associatea,
- H Statham, senior research associatea,
- J M Green, senior lecturerb,
- M P M Richards, reader in human developmenta
- a Centre for Family Research Faculty of Social and Political Sciences University of Cambridge Cambridge CB2 3RF
- b Department of Midwifery Studies University of Leeds Leeds LS2 9LN
- Correspondence to: Dr Hallowell
- Accepted 8 January 1997
Objectives: To describe women's information needs prior to genetic counselling for familial breast or ovarian cancer.
Design: Prospective study including semistructured telephone interviews before genetic counselling, observations of consultations, completion of postal questionnaires, and face-to face interviews within two months of counselling.
Subjects: 46 women attending genetic counselling for familial breast or ovarian cancer.
Main outcome measures: Subjects' understanding of process and content of genetic counselling before attending and attitudes about their preparation for the counselling session.
Results: Although all women interviewed before the clinic expected to discuss their risk of developing cancer and risk management options, there was evidence of a lack of knowledge about the process and content of genetic counselling; 17 (37%) women said they did not know what else would happen. Most women interviewed after counselling viewed it positively, but 26 (65%) felt they had been inadequately prepared and 11 (28%) felt that their lack of preparation meant that they could not be given an accurate estimation of their risk of cancer.
Conclusions: Some women felt that they did not obtain optimum benefit from genetic counselling because they were inadequately prepared for it. We suggest that cancer family history clinics should provide women with written information about the process and content of genetic counselling before their clinic attendance.
▪. Genetic services are coming under increasing pressure as more women are referred for genetic counselling because of a family history of breast or ovarian cancer
▪. We interviewed women before and after they attended genetic counselling to find their views of the process
▪. All women interviewed before the clinic expected to discuss their risk of developing cancer and options for risk management, but many said they did not know what else would happen
▪. Women interviewed after counselling generally viewed it positively, but most felt they had been inadequately prepared and some felt that their lack of preparation meant that they could not get an accurate estimation of their risk of cancer
▪. Women need information about genetic counselling before they attend the clinic so that they are adequately prepared, and a written leaflet describing the process and explaining some basic genetic facts could be a cost effective means of providing this
As the genetic basis for common multifactorial disorders becomes increasingly recognised there will be increasing demand for genetic counselling. It is therefore important to determine efficient ways of providing this service. Recent studies have looked at the provision of information during genetic consultations1 and counsellees' expectations before attending cancer family history clinics.2 Using data obtained during a prospective study of genetic counselling for breast or ovarian cancer,3 we present suggestions for the use of written information by family history clinics.
Subjects and methods
We recruited subjects from Cambridge Cancer Family History Clinic. After excluding those who had had breast or ovarian cancer or who had previously attended genetic counselling, we invited all women referred between February 1994 and February 1995 to take part. We approached 59 eligible women and recruited 46. The participants were aged 22-59 years (mean 40 years), and table 1) shows details of their family history of cancer.
We collected data from interviews, observations, and questionnaires (see table 2)). We recorded and transcribed the interviews and consultations with the women's consent. The study was approved by Cambridge Local Research Ethics Committee.
We coded the interview transcripts using the computer package Atlas-ti (Thomas Muhr, Berlin). Categories were based on the interview questions and recurring themes identified.4 The consultations were coded as agenda setting, family history, epidemiological, genetic, risk and screening information, surgery, hormone therapy, DNA testing, and other. We analysed the questionnaire data with the statistical package spss.
Before their appointment, counsellees were sent a form asking them to list affected relatives and their type of cancer, relationship to counsellee, date of birth, diagnosis and death, and details of hospitals where they had been treated. A few women contacted the clinic for further information and were told the approximate duration of the consultation, that they would not have a physical examination, and to write down questions for discussion. No physical examinations were performed during the consultations, although some counsellees were asked to donate blood for research purposes. Women were referred elsewhere for breast and ovarian screening.
Before attending the clinic, participants were asked “What do you hope to get out of the appointment?” All expected to discuss their family history, their own and other family members' risks, and options for risk management. However, there was widespread uncertainty about what else would occur, and 17 (37%) women said that they had no idea about what else to expect.
Unfamiliarity with the process and content of counselling inhibited counsellees from formulating questions in advance. In answer to the question “Have you any particular questions you want to ask the counsellor?” 13 (28%) women said they had not prepared questions as they envisaged their role in the consultation as passive–they assumed that the counsellor would question them and make recommendations.
The counsellors tried to establish the counsellees' expectations at the beginning of the consultations by asking them why they had been referred and what they expected. However, only one counsellee revealed her uncertainty at this point. The counsellees' lack of preparation became more apparent when the family history was taken as many became embarrassed when they were unable to provide information.
Responses to postclinic questionnaire
Despite the women's high level of satisfaction with the consultation (see table 3)), 12/43 (28%) said that they had been disappointed by some aspect of genetic counselling (for example, not having DNA testing or not being given enough information).
Responses to postclinic interview
Although 16 (40%) women said that they had not known what to expect, most participants regarded counselling as a positive experience. However, only 14 (35%) women reported feeling adequately prepared–”If there was anything I could change, it would be to let somebody know earlier what it really entails. Because I didn't know what to expect. I didn't know…they're going to talk to you about your family history. They are going to relate your family history to histories that they already have.”
Eleven (28%) women said that they would have liked to have known beforehand exactly what details of family history were needed. Some had not realised the importance of male or distant relatives or that they would be asked for health details of family members not affected with cancer. They worried that the gaps in their information meant that they were unable to obtain an accurate estimate of risk, despite the fact that the counsellors always stressed the provisional nature of estimating risk.
Two (5%) women wished that they had been advised to prepare questions, as they had not realised that counselling was a two way process. Four (10%) women who received a qualitative risk estimate said it would have been helpful if they had been given a numerical risk, and two were not aware that this was possible.
Six (15%) women said the consultation did not match up to their expectations: four had thought that they would have a blood test (it was unclear whether they envisaged this as diagnostic or DNA testing), and two had expected to have a clinical examination or screening–”I had no idea what was going to happen. I thought maybe I was going to have a full examination…. I've never had a mammogram, and I thought maybe that would happen.”
Some women said their anxiety about what would occur or the information they might receive had affected the way they approached the consultation–“I was in such a state when I got there. [My friend] and I sat in the car counting down…. And I'm saying to [my friend], ‘You listen for me because I can't take it in….’ And both of us were just like messes in the car…. Just before I went in for the appointment, my mind just went blank.”
Our subjects reported a high degree of satisfaction with counselling, but uncertainty about what the consultation entailed meant that a substantial proportion did not formulate questions in advance. Indeed, only 35% of the women considered themselves adequately prepared. Most knew that they wanted information about their risk of cancer and 38 (83%) received a quantitative risk estimate, but 11 (28%) felt that their lack of preparation meant that they could notobtain a definitive risk estimate. These findings suggest that counsellees would benefit from receiving information about the process and content of genetic consultations before they attend. A cost effective way to implement this suggestion would be to send counsellees a leaflet describing the practice of genetic counselling in a particular clinic and including some background information about familial breast and ovarian cancer (see box).
Suggested content of information leaflet about genetic counselling
Description of process of genetic counselling as practised– This should inform counsellees about what will occur during their consultation: that their family health history will be discussed, whether blood may be taken, and whether screening or physical examination may be performed. It should also emphasise that counselling is a two way exchange and encourage counsellees to prepare questions for the counsellor. An indication of whether it would be appropriate for a partner or close relative to attend the consultation would be helpful
Description of content of genetic discussions– This should outline the topics that may be discussed during the consultation: family history, risk assessment, and options for risk management for both counsellee and relatives. A list of all the details of the family history that the counsellee needs to bring to the consultation should be included. It should be emphasised that information about all known blood relatives, male and female and not just those affected by cancer, may be helpful
Background information– This should include brief epidemiological facts about the cancers (for example, the population risk of breast cancer is 1 in 12 and about 5% of cases of breast cancer are caused by an inherited predisposition), a simplified illustration of autosomal dominant inheritance, and a brief description of current research into cancer genes and the implications for DNA testing
Many studies report that patients often prefer written to oral information5 and that receiving written information before treatment reduces anxiety,6 is reassuring,7 and increases patient satisfaction.6 8 We believe that the service delivery in cancer family history clinics could be improved by the use of written information, as it would not only allay anxiety about the forthcoming consultation but also focus counsellees' concerns and ensure they bring the relevant information. This may reduce the need for clinics to contact counsellees for further information and the number of requests for follow up consultations.
We thank Professor B A J Ponder, Dr C Eng, Maggie Ponder, and all the women who took part in this study.
Funding: This study was funded by the Medical Research Council. The familial cancer clinic was supported by grants from the Cancer Research Campaign to B A J Ponder.
Conflict of interest: None.