Genetic counseling for hereditary cancer: A pilot study on experiences of patients and family members

Abstract

Recent advances in the identification of genetic abnormalities associated with certain types of cancer have stimulated the development of screening and counseling programs for hereditary and familial forms of cancer. In 1995, such a program was established in a collaboration between three familial cancer clinics in Amsterdam. Given the potential impact of genetic screening and counseling on the psychosocial health of participants, it was considered essential that the program be evaluated from its inception to determine the participants' satisfaction with the services provided. A pilot study was initiated in which individuals who received genetic counseling for cancer were asked to provide feedback on the perceived quality of the services provided, and to identify areas in which additional services may be required. Preliminary results based on 36 counseled individuals indicated generally high levels of satisfaction with the care provided by the clinical geneticist and with the procedures at the familial cancer clinics. Several areas were identified that deserve additional attention: (1) the role of the family doctor in the genetic counseling; (2) communication of information regarding the possible impact of genetic counseling and testing on daily life; (3) communication between the clinical geneticist and other health care workers, and (4) psychosocial support during and after the process of genetic counseling.

Introduction

Over the course of the past two decades rapid developments in molecular genetics have occurred, and efforts aimed at gene “mapping” have made considerable progress. These developments have led to the localization and identification of genes that are responsible for certain cancers, including breast cancer, ovarian cancer and colorectal cancer 1, 2, 3, 4. Better understanding of the role of genetics in cancer etiology has lead to an increased demand for genetic counseling for familial forms of cancer [5].

In the Amsterdam area, a counseling program for hereditary and familial forms of cancer was established in 1995 at the familial cancer clinic of the Netherlands Cancer Institute/ Antoni van Leeuwenhoek Hospital (NKI/AvL), in collaboration with the familial cancer clinics at the departments of clinical genetics of the Academic Hospital of the Vrije Universiteit Amsterdam (AZVU) and the department of human genetics of the Academic Medical Center (AMC) of the University of Amsterdam. In this collaboration the policies and procedures for genetic counseling were standardized, to as great an extent as desirable and possible, and coordination of activities and cooperation between the three clinics was maximized. Toward this end, a standard protocol was developed [6]. This “Amsterdam protocol” provides a set of uniform, multidisciplinary guidelines for family history research, patient education, DNA-diagnostics, screening, and prophylactic surgery for familial tumors.

To date, a number of studies have been published addressing psychological issues affecting individuals at heightened risk of developing cancer 7, 8, 9, 10. However, virtually no empirical data are available about the experiences and satisfaction of counseled individuals with familial cancer counseling services. Similarly, little is known about the need for psychosocial support in the process of genetic counseling and testing [11].

In this paper we report on the experiences of individuals at increased risk for cancer with the newly organized familial cancer clinics in Amsterdam, including their level of satisfaction with the services as provided, and the perceived need for professional psychosocial support. Before presenting the results, we will first provide a brief description of the Amsterdam protocol and the services of the familial cancer clinics.