Genetic Testing for Breast and Ovarian Cancer Susceptibility: A Family Experience

Marcia Van Riper, RN, PhD

Disclosures

J Midwifery Womens Health. 2004;49(3) 

In This Article

Abstract and Introduction

The purpose of this article is to provide an overview of current knowledge concerning genetic testing for breast and ovarian cancer susceptibility. This overview includes 1) a brief history of genetic testing for breast and ovarian cancer susceptibility, 2) a review of factors that midwives and other health care providers need to consider before offering this type of testing to their clients, 3) management options for clients at high risk for hereditary breast and ovarian cancers, and 4) a discussion of preliminary findings from an ongoing study concerning the family experience of genetic testing, which illustrates some of the ethical issues that emerge for individuals and families during the family experience of genetic testing for breast and ovarian cancer susceptibility.

Significant advances have been made in understanding the genetic components of breast and ovarian cancer.[1] Genes associated with an increased risk of these cancers, such as Breast Cancer 1 (BRCA1) and Breast Cancer 2 (BRCA2), have been cloned, and genetic tests for mutations in these genes have been available for almost a decade. The availability of genetic testing for breast and ovarian cancer susceptibility affords unprecedented opportunities for individuals and families to learn whether they have an increased risk for developing these potentially fatal conditions. Even more importantly for some individuals, the availability of genetic testing gives them a chance to find out if they have the potential to transmit genetic mutations to their offspring.[2] Awareness of genetic risk can also facilitate informed health care decisions and, in some cases, can promote risk reduction behaviors that have the potential to reduce morbidity and mortality.[3]

Although the increased availability of genetic testing for breast and ovarian cancer susceptibility has the potential to make important contributions to the health and well-being of individuals and families at increased risk for these cancers, it also has the potential to create moral quandaries for these same individuals and their families.[4,5,6,7,8,9] According to Thomson,[10] the major risk associated with genetic testing is that of gaining information: information that may result in increased anxiety, altered family relationships, discrimination, or stigmatization; information that may be difficult to keep confidential; and information about which little can be done, in most cases.

Currently, many health care providers lack the knowledge base necessary to help individuals and families make informed decisions about genetic testing for breast and ovarian cancer susceptibility. This is due, in part, to the fact that many health care providers have had little, or no, formal education in genetics.[11,12,13] In addition, advances in genetics have been occurring so rapidly, some health care providers may find it difficult to keep abreast with new discoveries. Finally, for some health care providers, especially primary care providers, the relevance of genetics may not be obvious[14] and because of this, they may have minimal interest in becoming better educated about genetics.[12]

The purpose of this article is to provide an overview of current knowledge concerning genetic testing for breast and ovarian cancer susceptibility. This overview includes 1) a brief history of genetic testing for breast and ovarian cancer susceptibility, 2) a review of factors that midwives and other health care providers need to consider before offering this type of testing to their clients, 3) management options for clients at high risk for hereditary breast and ovarian cancers, and 4) a discussion of preliminary findings from an ongoing study concerning the family experience of genetic testing, which illustrates some of the ethical issues that emerge for individuals and families during the experience of genetic testing for breast and ovarian cancer susceptibility.

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