Guidelines as an aid in counselling for patients at risk of breast cancer
Authors: Semper, J.R., Van Teijlingen, E. and Haites, N.
Journal: Genetic Counseling
Volume: 8
Issue: 2
Pages: 183-184
ISSN: 1015-8146
Abstract:In Britain the lifetime risk of developing breast cancer is ± 1 in 12 and is the most common cause of death in women aged 35-55. Advances in medical genetics in recent years have made it necessary to constantly update information given to families with histories of genetic disease. In 1994 a gene on chromosome 17q12-21 was isolated. Mutations in this gene called BRCA1 predispose women to breast and ovarian cancer (Miki et al., 1994; Futreal et al., 1994). Discovery of such genes could lead to the eventual introduction of mutation testing and will have implications for the manner in which patients are counselled in a similar way to changes in counselling procedures brought about by the discovery of the Huntington's Disease gene. Moves are underway in Scotland to introduce national protocols for management & counselling of patients at risk of breast cancer. In order to set up a genetic counselling model, it is necessary to define «Genetic Counseling» exactly. In this study the term «counseling» is used broadly to explain possible hereditary nature of the condition (breast cancer) and the risk of the disease to individuals and their families. Options open to individuals are discussed along with any other relevant topics. There are presently no counselling models for breast cancer, although attempts are being made to standardise practices in Scotland. As knowledge of medical genetics advances, demands will be made for closer working partnerships between counsellors and patients. The best existing model for presymptomatic testing is the one currently used fo Huntington's Disease. An adtapted Huntington's protocol could be used for genetic counselling for patients at risk of breast cancer. Counseling in Aberdeen includes the taking family histories (later verified using hospital records), general information on genetics and particular information about breast cancer provided and where possible risk estimation given. Patients are taken through their medical history, age of menarche, pregnancies, oral contraception, hormone replacement and diet. Patients are informed that further counselling will be required if they are suitable for the test. Counseling is non-directive, the patient is provided with as much information as possible to allow informed decisions to be made with regard to management and treatment, and is practised with regard to screening, prevention and reproductive decision making. Most patients seen at the genetic clinic only need one appointment with confirmation of risk in a letter to her doctor with a copy to the patient. Patients can arrange a further appointment if required. In cases where clinicians felt it appropriate to mention the BRCA1 gene, patients are informed that at least two other sessions are necessary before any family member is considered for the mutation test. The implications of testing such as effects on family, employment and insurance are discussed and in some cases psychiatric assistance offered at pre-test stage. Preparatory counselling will be critical to planning for the impact of test results and tailoring of follow-up. A Guideline in the form of a tick box list was created which enabled the counsellors to deal with all the relevant points of the counselling session mentioned above, but also allowed them to be more flexible. This poster shows the Guideline and explains how the Guideline was created and how it was put to use.
Source: Scopus
Guidelines as an aid in counselling for patients at risk of breast cancer
Authors: Semper, J., van Teijlingen, E. and Haites, N.
Journal: Genetic Counseling
Volume: 8
Pages: 183-184
ISSN: 1015-8146
Abstract:n Britain the lifetime risk of developing breast cancer is ± 1 in 12 and is the most common cause of death in women aged 35-55. Advances in medical genetics in recent years have made it necessary to constantly update information given to families with histories of genetic disease. In 1994 a gene on chromosome 17q12-21 was isolated. Mutations in this gene called BRCA1 predispose women to breast and ovarian cancer (Miki et al., 1994; Futreal et al., 1994). Discovery of such genes could lead to the eventual introduction of mutation testing and will have implications for the manner in which patients are counselled in a similar way to changes in counselling procedures brought about by the discovery of the Huntington's Disease gene. Moves are underway in Scotland to introduce national protocols for management & counselling of patients at risk of breast cancer. In order to set up a genetic counselling model, it is necessary to define «Genetic Counseling» exactly. In this study the term «counseling» is used broadly to explain possible hereditary nature of the condition (breast cancer) and the risk of the disease to individuals and their families. Options open to individuals are discussed along with any other relevant topics. There are presently no counselling models for breast cancer, although attempts are being made to standardise practices in Scotland. As knowledge of medical genetics advances, demands will be made for closer working partnerships between counsellors and patients. The best existing model for presymptomatic testing is the one currently used fo Huntington's Disease. An adtapted Huntington's protocol could be used for genetic counselling for patients at risk of breast cancer. Counseling in Aberdeen includes the taking family histories (later verified using hospital records), general information on genetics and particular information about breast cancer provided and where possible risk estimation given. Patients are taken through their medical history, age of menarche, pregnancies, oral contraception, hormone replacement and diet. Patients are informed that further counselling will be required if they are suitable for the test. Counseling is non-directive, the patient is provided with as much information as possible to allow informed decisions to be made with regard to management and treatment, and is practised with regard to screening, prevention and reproductive decision making. Most patients seen at the genetic clinic only need one appointment with confirmation of risk in a letter to her doctor with a copy to the patient. Patients can arrange a further appointment if required. In cases where clinicians felt it appropriate to mention the BRCA1 gene, patients are informed that at least two other sessions are necessary before any family member is considered for the mutation test. The implications of testing such as effects on family, employment and insurance are discussed and in some cases psychiatric assistance offered at pre-test stage. Preparatory counselling will be critical to planning for the impact of test results and tailoring of follow-up. A Guideline in the form of a tick box list was created which enabled the counsellors to deal with all the relevant points of the counselling session mentioned above, but also allowed them to be more flexible. This poster shows the Guideline and explains how the Guideline was created and how it was put to use.
Source: Manual
Preferred by: Edwin van Teijlingen