Lieve Denayer

Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients.

The psychological aspects of genetic testing for hereditary breast and ovarian cancer (HBOC) in cancer patients (diagnostic genetic testing) have so far received less attention than predictive genetic testing in unaffected persons. Our study is aimed at gaining insight into the psychological aspects of diagnostic genetic testing and at formulating practical recommendations for counseling. Cancer patients often play a key role in the communication of information to relatives because they were the first individuals to be tested in the family. The present article focuses on the communication to close and distant relatives about the hereditary cancer, the genetic test and its result. Participants previously diagnosed with breast and/or ovarian cancer, with a family history of these cancers and who requested DNA‐testing, were eligible for the study. Of the 83 eligible patients who could be contacted, 63 participated (response rate = 76%). Twenty‐six participants were members of a family where a BRCA1 or BRCA2 mutation was detected. The DNA‐analysis in the family of 37 participants had not revealed any mutation. Data were collected by semi‐structured interviews and psychological tests and questionnaires. The dissemination of information was largely focused on first‐degree relatives. Communication to distant relatives about the genetic test and its result was problematic. Other than the genetic test result and age as “objective” predictors of informing distant relatives, little and/or superficial contact seemed to be the major subjective barrier to informing distant relatives. Furthermore, the knowledge about HBOC of these messengers reveals several shortcomings. Communication within the family should receive special attention during counseling.

Predictive genetic testing for hereditary breast and ovarian cancer: psychological distress and illness representations 1 year following disclosure.

This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34 noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer than noncarriers. Carriers who did not have prophylactic oophorectomy had the highest risk perception of ovarian cancer. No differences were found between carriers and noncarriers regarding perceived seriousness and perceived control of breast and ovarian cancer. Mean levels of distress were within normal ranges. Only few women showed an overall pattern of clinically elevated distress. Cancer-specific distress and state-anxiety significantly decreased in noncarriers from pre- to posttest while general distress remained about the same. There were no significant changes in distress in the group of carriers except for ovarian cancer distress which significantly decreased from pre- to posttest. Our study did not reveal adverse effects of predictive testing when offered in the context of a multidisciplinary approach.

A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis

In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF‐child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the reproduction data and to assess their knowledge and intentions with regard to the new possibilities of DNA diagnosis. The birth of a CF‐child had a major impact upon subsequent family planning. This effect was found both in the reproductive plans reported by the parents and in the occurrence of pregnancies during the follow‐up interval. This effect can be attributed mostly to the recurrence risk and consists of postponing pregnancies as well as of deciding against further offspring. If the CF‐child was the firstborn, the chance of having another child was greater than if there was already a healthy child before the birth of the CF‐child. Nevertheless, only 47% of the families in which the CF‐child was the firstborn, and who could be followed for an average period of 7 years, had another pregnancy. A large majority of families intended to use prenatal diagnosis should a pregnancy occur. In half of the pregnancies that occurred between 1984 and 1987, a prenatal diagnosis was performed. On the other hand, there is less consensus about pregnancy interruption should prenatal diagnosis reveal an affected fetus. In both 1984 and in 1987, more than half of the parents thought they would decide to have an interruption, but it is worth noting that a considerable proportion of interviewees could not make up their mind or were against it. It is also striking that one‐third of the group held a different opinion in 1984 as compared to 1987.

A stigmatizing effect of the carrier status for cystic fibrosis

The emotional impact of carrier detection for CF was assessed in a group of adults tested before 1992. Of the 200 adults who received a mailed questionnaire, 70% participated. One third were CF gene carriers. The Health Orientation Scale (HOS) was used to evaluate perceived feelings about three situations: (a) How would you describe your feelings about yourself when you consider your test result? (b) How do you think most people feel when they are told that they carry the CF gene? (c) How do you think most people feel when they are told that they do not carry the CF gene? Comparing the profiles of CF carriers and non‐carriers, we found that carriers had significantly less positive feelings about themselves than non‐carriers. Carriers as well as non‐carriers attribute significantly more negative feelings to most carriers of the CF gene than to most non‐carriers. Moreover, carriers of the Cf gene attribute more negative feelings to other CF carriers than to themselves. Analysis of variance revealed a significant effect of carrier status on self‐description, as well as a significant effect of carrier status and degree of kinship with a CF patient on feelings attributed to most carriers. Although these results suggest some danger of stigmatization of CF carriers, the cognitive bias of ‘illusory superiority’ seems to counterbalance some of its effects.

Diagnostic genetic testing for hereditary breast and ovarian cancer in cancer patients: women's looking back on the pre-test period and a psychological evaluation.

The aim of this retrospective, exploratory study was to gain insight into how cancer patients who had a diagnostic genetic test for hereditary breast and/or ovarian cancer looked back on the pre-test period and to gain insight into the psychological impact of the genetic test result. Data were collected by semistructured interviews and self-report questionnaires in 19 BRCA1 or BRCA2 mutation carriers, 7 noncarriers, and 36 patients with an inconclusive genetic test result. Cancer patients had a genetic test mainly for other persons, especially relatives in the descendant line. Mutation carriers felt more in control, but they also reported negative effects of genetic testing such as negative emotional impact and being concerned about their children. Non-carriers were relieved. The group of women where no BRCA1 or BRCA2 mutation was found in the family was heterogeneous. Some misinterpreted the genetic test result as revealing the absence of a genetic predisposition. Others were relieved but also still aware of an increased risk, whereas a last group experienced continuing uncertainty and felt less in control. Self-report questionnaires did not reveal differences in general and cancer-specific distress as a function of the genetic test result. Furthermore, no differences among the three groups were found regarding perceived seriousness of breast and ovarian cancer and perceived control of breast cancer. Perceived control of ovarian cancer was highest in the inconclusive group.

Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling

Since the identification of two breast–ovarian cancer susceptibility genes (BRCA1/2), predictive testing for hereditary breast/ovarian cancer (HBOC) has been available. Given the complexity and uncertainties of HBOC and the potential impact of predictive testing on psychological well-being, we offer the test applicants a combination of information-oriented and psychological counselling. In this paper, we describe the multidisciplinary approach for predictive testing for HBOC as a clinical service in Leuven, hereby focusing on psychological and decision counselling practice. Attention is paid to the theoretical framework used for pre-test psychological counselling in Leuven. We discuss three important interacting dimensions of psychological counselling: individual emotional support, decision counselling and support of the family communication process. Decision counselling consists of an evaluation of the cognitive and the emotional processing of the information given and strategies and resources for coping. This serves as a starting point to facilitate free informed decision making. Scenario development is used as a decision aid.

Community attitudes towards prenatal testing for congenital handicap

Abstract The aim of this study was to assess the attitudes of a heterogeneous group of participants in adult education classes towards prenatal diagnosis and pregnancy termination in a number of hypothetical situations: three situations of specified risk of physical handicap, mental handicap and early death, and one age-related risk situation (1% risk for Downs syndrome). We explored the impact of some specific variables on these attitudes, especially of subjective risk perception and perceived burden of the handicap. A questionnaire was presented to 385 adults with an interest in psychosocial issues, but with no special pre-existing knowledge or training in genetics. Prenatal diagnosis was highly acceptable in the hypothetical situations: three quarters of the sample reported they would make use of it should they be pregnant; the figure was somewhat lower (66%) in the case of a pregnancy with risk for Downs syndrome. The acceptance of pregnancy termination was near 40% in the case of mental handicap, e...

A community based study on intentions regarding predictive testing for hereditary breast cancer

Editor—The recent developments in human genetics have led to the availability of predictive DNA tests for the hereditary subgroups of some cancers. During the past five years, genetic testing for mutations in the BRCA1 1 and BRCA2 genes,2 predisposing to hereditary breast/ovarian cancer (HBOC), has entered clinical practice. Several genetic centres/hospitals offer predictive testing for HBOC to women with a family history of the disease. Women who carry a HBOC mutation might decide on regular breast screening to increase the chances of early detection of the disease. Alternatively, they might opt for prophylactic surgery to reduce their breast/ovarian cancer risk as much as possible. In addition to the uncertainties involved in these management options, the ambiguity because of the incomplete and variable penetrance of the BRCA1/BRCA2 mutations has to be dealt with as well3-5; recent estimations of the cumulative breast cancer risk for female BRCA1/BRCA2 mutation carriers vary between 50% and 85%. Alternatively, the absence of a BRCA1/BRCA2 mutation in affected family members does not eliminate the risk of developing breast cancer. It merely reduces the risk to the risk level in the general population, which is about 10% in the industrialised world.6 7Despite these uncertainties, the high frequency of breast cancer in the population may trigger questions about and interest in the predictive test for breast cancer. Also, media attention may play an important role by creating high hopes,8 as well as an increased awareness or misconceptions of the personal and population risk for breast cancer.9 10 Commercial companies may try to encourage testing for BRCA1/BRCA2 mutations by selling tests directly to physicians and/or the public.11 On the other hand, public concern, pessimism, or fear about the new genetic technology12 may discourage interest in applications like predictive genetic testing …

The CF carrier status is not associated with a diminished self-concept or increased anxiety: results of psychometric testing after at least 1 year

To evaluate whether the CF carrier status has any lasting effect on anxiety and on self‐concept at least 1 year after the disclosure of the test result, an in‐depth interview and additional psychological tests were administered in a group of adults who participated in a previous study which suggested a slight stigmatizing effect of the CF carrier status. Besides carrier status, the role of a second factor — degree of relationship — was investigated. Analysis of Variance (MANOVA or ANOVA) revealed no effect on state and trait anxiety (STAI) and almost no effect on the six subscales of the Tennessee Self‐Concept Scale. The absence of a lasting negative effect of the CF carrier status on anxiety and self‐concept is a very important finding. Nevertheless, an intriguing significant interaction effect was found: the group of sibs carrying the CF gene felt less integrated in the family than the group of non‐carrier sibs. This effect of carrier status was not found in the more distant relatives. It is important to pay sufficient attention to this problem during genetic counseling when brothers or sisters of a CF patient receive a test result.

Family Planning Decisions after the Birth of a Cystic Fibrosis Child: The Impact of Prenatal Diagnosis

A group of 105 randomly selected families of the Belgian CF Association was interviewed at home by a social worker to assess the impact of the birth of the CF child on further reproduction. The birth of a CF child had a major impact on further reproductive plans. In only 35% of the families that were followed up for at least 5 years did a subsequent pregnancy occur. It is important to stress, however, that for half of these the diagnosis of CF was not established at the beginning of this pregnancy. We paid specific attention to the factors influencing the decision-making concerning further pregnancies. The risk level, which was evaluated as high or even very high by most of the families, was a very important factor. The start of a new pregnancy within a given interval was also related to the kind of problems that were encountered with the CF child. It is very clear from our results that the availability of prenatal diagnosis will have a major effect on family planning. The decision to have a subsequent pregnancy will be facilitated (even stronger: when prenatal diagnosis is available, a pregnancy will be planned, and otherwise not). We also investigated the use of prenatal diagnosis in all parents who did not undergo a sterilization: 85% of these parents had the intention to use prenatal diagnosis should pregnancy occur. The intended use of prenatal diagnosis is related to the subjective interpretation of the risk level.(ABSTRACT TRUNCATED AT 250 WORDS)