BREAST CANCER, GENETIC TESTING

Breast Cancer, Genetic Testing



Breast Cancer, Genetic Testing

Introduction

A 36 year old newly married woman has recently been diagnosed with right sided breast cancer. Her mother was treated for breast cancer at age 50 and a maternal aunty has a history of both breast cancer and ovarian cancer.

Is there likely to be a genetic inherited component? What factors point towards an inherited component?

Recent advances in genetic research have emphasized that each individual should be considered in the context of the family, as biological family members have many genes in common. At least 50% of our genes are shared between first-degree relatives. In addition, family members share common environments and cultures. Genetic and genomic information has taken on new importance as health care providers have embraced genomic and personalized health care for individuals and families. Genomic health care is the use of information from genomes and their derivatives (RNA, proteins, and metabolites) to guide health care decision making and is a key component of personalized health care.

For providers, this means the ability to determine the risk of disease related to genetic factors, new approaches to disease prevention or risk reduction, and a better understanding of prognosis, progression, and response to treatment. For families, this means learning how to manage the knowledge related to genetically influenced conditions, proactive planning, and possibly living with uncertainty, threatened loss, and anxiety. The new era of genetic and genomic health care means that families will move through their life cycle with increasing information available to them regarding genetically influenced risk for traits (Holmes, 2005, 2479).

Research studies indicate that the results of genetic testing can have a profound impact on family life. If the tests are positive, families must accept the results of the test and its implications, grieve losses or changes in individual or family identity, and develop a family plan in response to the genetic knowledge. As an example, consider a man found to have Machado-Joseph disease, an inherited neuromuscular disease. He is married and has two late adolescent children, one of whom also tested positive and is highly likely to develop the disease. This family needs to discuss the meaning of the test results for all family members and develop future goals and discuss changes in family roles with a counselor.

Genetic testing can also identify family members in terms of predisposition to a variety of serious illnesses such as breast and ovarian cancer. Family members will know who is at risk because they have the BRCA1 and BRCA2 mutation or they do not have it. Once a mutation is identified in a family, those who choose not to undergo the genetic testing must still live with the awareness of their risk. Research indicates that the results of the testing can alter family dynamics and realign relationships within the family unit.

This woman is requesting genetic testing

In your opinion, should this woman be tested? Please provide reasons to support this.

Genetic testing involves laboratory analyses of chromosomes, genes, or gene products (enzymes or ...