Erna Claes

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.

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.

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 …