The impact of genetic counseling on knowledge and emotional responses in Spanish population with family history of breast cancer

https://doi.org/10.1016/j.pec.2009.10.032Get rights and content

Abstract

Objective

To assess a genetic counseling intervention measuring the distress, cancer risk perception, anxiety, worry and level of knowledge in people with familial history of breast cancer.

Methods

One group pre- and post-test design. A total of 212 individuals completed a baseline questionnaire, 88.6% completed a second questionnaire one month later and 75.4% six months later.

Results

Counseling intervention significantly increased the knowledge level of the individuals who received genetic education and significantly decreased the cancer worry levels. Persons with low perception of their cancer risk also had low worry levels. There were no significant changes over time in cancer risk perception or in quality of life.

Conclusion

Counseling in a high risk population seems to decrease cancer worry and to increase cancer knowledge thus enabling a counselee to take well-informed decisions. Furthermore, according to our results, such interventions do not increase anxiety and do not modify the quality of life, but do not adjust their cancer risk perception.

Practice implications

Providing individuals at increased risk of breast cancer genetic services seem to enhance their understanding of breast cancer without causing adverse psychological effects or changes in their quality of life, and it could improve their preventive behaviours.

Introduction

As in most of the European countries, breast cancer in Spain is the most common carcinoma in women. One in every eleven women will develop breast cancer in her lifetime [1]. However, we know that the majority of cancers are sporadic, and only between 5% and 10% of breast cancer cases are hereditary. Because of this, people with family histories of breast cancer attend Genetic Cancer Counseling. A genetic risk assessment is performed in order to inform the client about personal and hereditary risk of cancer. The genetic counseling process includes risk assessment and education, facilitation of genetic testing, pre- and post-test counseling and the provision of individually designed cancer risk management options [2], [3], [4]. Counselees must assimilate new concepts to be able to take informed decisions adapted to their personal risk. Terms like risk, screening, DNA, chemoprophylaxis, prophylactic surgery, genetic mutations, and BRCA1/2 are concepts that must be comprehensible to the persons receiving genetic counseling [5].

Recent research in the area of breast cancer genetic counseling has concentrated on the individual's psychological status and risk perception. Evidence from systematic reviews illustrates that a genetic counseling intervention does not appear to increase distress and therefore could improve the accuracy of individuals’ perceptions of their personal risk [6]. One of the key issues in the counseling process is risk assessment for both developing and transmitting the disease. Most patients come to genetic counseling units with inaccurate perceptions of their cancer risk, and this can frequently cause them to be less receptive to obtaining proper information [7], [8], [9]. Genetic counselors advise their patients about probability, and it is necessary to have an open dialog with such persons and their families. The meaning of cancer risk is not always understood in the same way by the different family members involved in the process. Moreover, there is a wide variety of emotional (e.g. anxiety, worry, beliefs, and personality types), social and cultural factors related to this process, and therefore health professionals must adapt their educational strategies to patients and families.

Genetic counseling intervention tends to reduce the worry levels in women with familial history of breast cancer [10]. Nevertheless, previous distress, anxiety and excessive worry decrease the efficiency of the intervention [11], [12].

This study used the Health Belief Model (HBM) as a conceptual framework to explain the preventive behaviour of individuals with increased risk of breast cancer [13]. The HBM is used to predict an individual's use of preventive measures to decrease their risk of developing the disease or to facilitate early diagnosis that would lead to more efficient treatment. Variables of the model are analyzed within the context of individuals who come to the Genetic Counseling Unit (GCU). According to the HBM, the counselee must hold the following beliefs before he or she will adopt preventive behaviours:

  • (a)

    She/he personally feels “threatened” by hereditary breast cancer. She/he believes or perceives that she/he is vulnerable to the disease or has higher risk than the general population.

  • (b)

    She/he believes or perceives that the breast cancer is a disease that is serious enough to be concerned about.

  • (c)

    She/he believes or perceives that benefits of preventive measures indicated (mammograms, self, ultrasound, and surgery) or genetic testing (if indicated) outweigh their corresponding costs and inconvenience.

Given these assumptions and according to the literature, we hypothesize that those who have a higher risk of breast cancer will perceive the disease as life-threatening because of their perceived risk, or their estimated risk, combined with increased worry about the disease whether the genetic intervention variables can be changed or not. We predict that genetic counseling will adjust these variables according to the needs of individuals and families of those who request it. We further predict that during this process counselees will have the opportunity to adjust their perceptions of risk, to increase their knowledge about the disease, and to receive detailed information on recommended screening measures [14], [15].

We have already described the socio-demographic and emotional characteristics of the patients who attend our Genetic Counseling Unit (GCU) in Barcelona (Spain) [16], but a lack of knowledge about the psychological outcomes of the genetic counseling intervention over the time persists. The aim of this study was to investigate a genetic counseling intervention measuring the distress, cancer risk perception, anxiety, worry and level of knowledge in people with familial history of breast cancer before and after the genetic intervention.

Section snippets

Methods

We carried out a longitudinal study that involved a single group of participants undergoing pre- and post-genetic intervention. Participants were recruited from consecutive new referrals for cancer genetic counseling at the Genetic Counseling Unit of the Institut Català d’ Oncologia in L’Hospitalet del Llobregat, Barcelona, Spain, between January 2006 and June 2007. Inclusion criteria were familial history of breast cancer, age of 18 years or older, and capacity to read and write in Spanish.

Results

Socio-demographic and the baseline assessment in the genetic counseling unit are shown in Table 1. Of the 212 participants who met the inclusion criteria 152 completed and returned the three questionnaires. The mean age of respondents was 38.4 years (s.d.: 11.4) and most of them were married and had children (mean number of children, 1.2; s.d.: 1.1).

Discussion

A large number of outcome studies in genetic counseling assessing the efficacy of counseling over the time have been published. However, this is the first Spanish study that explores the psychological outcomes following genetic risk-counseling for individuals with a family history of breast cancer. In our setting, the genetic counseling intervention has been shown to induce changes in relation to cancer knowledge and cancer worry, but it does not adjust the cancer risk perception of the

Role of funding

This study was funded by the Spanish Ministry of Health (Spain) Instituto de Salud Carlos III (FIS PI051943). This funding source had not involvement in terms of publication the results.

Conflict of interest

All the authors of this paper confirm that there is no conflict of interest and there is no relationship with other people or organizations that may inappropriately influence the author's work now and in the future.

Acknowledgments

We wish to thank all the participants of this study and the staff who supported it in the Genetic Counseling Unit of the Instituto Catalan de Oncologia. This study was funded by the Spanish Ministry of Health (Spain) Instituto de Salud Carlos III (FIS PI051943).

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