Genetic Testing (BRCA) in Families with hereditary Breast-Ovarian Cancer@

Genetic Testing (BRCA) in Families with hereditary Breast-Ovarian Cancer@

Table of Contents

Research Question: 3

Frame work for proposal: 3

Background Information and Literature Review: 3

Ethical Issues: 7

Methodological approach and design: 9

Research Design. 9

Methods: 10

Sample and Data collection: 11

Data Appraisal: 12

Data Analysis. 13

Data Synthesis. 13

Limitation: 14

Time Frame: 14

Dissemination: 15

REFERENCES: 16

 

Research Question:

What are the factors influencing an individual’s psychological reactions to BRCA gene testing?

Aims:

Breast and ovarian cancer are associated with familial history, as both the study of the hereditary aspect of the diseases, and the cases that have been reported, are indicate that there are high possibility of recurrence within a certain family(citation please). The mutations of the genes BRCA1 and BRCA2 have been linked with increased risks of developing breast and ovarian cancer (Diamandis, 2002). This study aims to explore the behavioural, cognitive, and emotional factors that are associated with BRCA gene testing, such as being anticipated, or expressing an emotional reaction. In addition, an appropriate determination of the channels, through which the public can be sensitized on the importance of this testing is also vital.

Frame work for proposal:

This proposal will follow a list of headings to make it easier for the person who reads to pursue and understand the content. This proposal will respect the framework recommended by Punch (2006).

Background Information and Literature Review:

Predication of ailment based on natural markers such as testing the cholesterol level and blood serum is not a new concept. Application of DNA markers for genetic testing is a new concept in medicine. As the scope of genetic testing becomes more profound, it is appropriate to consider psychological impacts that it might have on an individual (Sharpe & Carter, 2006). Research conducted on the genetic testing on ovarian cancer, cystic fibrosis and breast cancer has proved that many aspects (Diamandis, 2002) determine the decision of an individual to undergo genetic testing and the reaction to the outcome. In clinical management, predictive testing of the genetic testing should be offered under expert counselling.

BRCA1 and BRCA2 are genes, which are associated with tumour suppression. Mutations of these genes lead to genetic ovarian and breast cancer. The possibility of developing both types of cancer: ovarian and breast cancer enhances when the individual inherits deleterious BRCA1 or BRCA2 mutations. Blood sample is necessary for the test. It is recommended that the patient be counselled before and after testing (Diamandis, 2002). If the tests are positive, there are several options available for the person to manage the disease. In normal cells, BRCA1 and BRCA2 genes enhance the stability of the genetic material, thus preventing uncontrolled growth of the cells. The initials for these genes are short for breast-tumour vulnerability gene 1 and 2. Gene mutations may or may not be deleterious (harmful). Some of these mutations may be neutral or beneficial (Lashley, 2007). Deleterious effect of these genes increases the probability of developing a tumour. In this case, a women lifetime risk of developing cancer increases when there harmful mutations of the BRCA1 and BRCA2 genes (Lashley, 2007). This can happen even at the youth age (before menopause), and multiple effect increases if one of the family members was diagnosed with these diseases. There are other extrapolated risks associated with these genes. BRCA1 mutation may also lead to the development of cervical, uterine, pancreatic and colon cancer while BRCA2 gene mutations increase pancreatic cancer, stomach cancer, melanoma and cancer of the gallbladder (Sharpe& Carter, 2006).

Several methods are available in carrying out the tests of these genes. Most of these procedures are tests for BRCA1 and BRCA2 (Miller, 2010). Frequently, combinations of different procedures are applicable in the genetic testing. A common one is testing the proteins produced by these genes. Usually blood is drawn out of the patient in a hospital or clinical laboratory and tests carried out (Lashley, 2007). It takes a period of few weeks or longer to have the results. The women should be given proper counselling prior and after testing. Qualified personal who is dealing with cancer genetics will provide the counselling. This counselling is based on the personal medical history. The psychological risks, which are after genetic testing, are considered (Lashley, 2007).

Using the BRCA1 and BRCA2 genes in the ovarian and breast tumour is a form of predictive test. This test provides the women with information on chances of developing the two diseases. To ascertain the occurrence of the disease, pre- symptomatic and predisposition tests are carried out. Several factors should be considered before an uptake of genetic tests. Most women do not want any information regarding their risk status (Epstein, 2003). This can be attributed to the fear of unknown (Sharpe & Carter, 2006). Uptake of genetic test depends on how they are conducted. Most women would like the tests to be conducted with respect of confidentially of information. Interests in carrying out the tests are perceived risks rather than objective risks. The necessity of having exact results through which the tests provide this certainty is a crucial determinant in undergoing the genetic test (Pasche, 2007).

A follow up program on the psychological reaction to the test is essential for the patient. In a normal screening program, most women expect negative results; this explains why counselling is critical before the testing. Genetic counselling enables women to make an informed decision about testing (Pasche, 2007). Some of the psychological reaction to genetic testing relies on the personal experience and values. Structured emotional support should be provided to women after the disclosure of positive results. On the other hand, disclosure of negative results is a strategy in genetic counselling. In some instances, rehearsal is applicable in the reduction of distress after the stressful events (Stiefel, 2006). Women who anticipate their reactions towards BRCA gene testing are less likely to experience psychological hurdles after testing. They comply with medical surveillance and prevention recommendations prescribed. In BRCA gene testing there are two faces of psychological reactions i.e. anticipated and actual reaction to the disclosure of BRCA1 or BRCA2 genetic results (Sharpe & Carter, 2006).

To make a full comprehension of the psychological reactions towards BRCA gene testing among women, it is apparent for one to understand some of the measures taken. BRCA1 gene testing programs have intensive psychological assessment, which is based on semi- structured interviews. Anticipated reactions towards this test are assessed through the interviews, which are done concurrently with pre test genetic counselling. In this case, the participants are asked to state how they would feel if they did not have familial mutation. The patients are expected to give different emotional tests such as relief, happiness, sadness, guilt, anger that are all given 1-5 point scales. Learning of the anticipated reaction relates to the actual reactions towards the testing. Carriers of defective BRCA1 gene will feel more distressed after the testing than they had anticipated (Morrow & Jordan, 2003). They feel that they have a role to play for individuals who have positive results. The guilt comes since they feel that they would pass on the trait to their offspring. Cancer patients in families, which have a history of cancer, feel that they are partly to blame for the positive tests. This elicits mixed emotional reaction (Stiefel, 2006).

Test carried out on women create psychological awareness to the chances of increased risks of cancer contraction and that of their offspring. Individual characteristics play a significant role in determining the psychological reactions towards cancer testing. For most women, the term genetic carries negative connotations (Stiefel, 2006). They assume that illness related to a genetic disorder is neither preventable nor treatable. This assumption as a state of mind contributes to psychological reactions. The extent to which an individual considers the condition preventable plays a crucial role in adopting necessary measures.

Many women who test positive to BRCA may be influenced by several psychological factors, which necessitate the decision of undergoing treatment (Sharpe & Carter, 2006). Women who feel strongly about the value of the surgery will appreciate the treatment to be done on them (Pasche, 2007). Distress, anxiety, and depression are the most common psychological implications of BRCA gene testing. Studies have shown that informative test results to uncertainly about the cancer susceptibility, difficulty in communicating the test results to family members and state of confusion. A lot of the literature focuses on BRCA mutation carriers. Factors that lead to individual’s psychological reaction towards positive results are placed in four main areas of focus (Stiefel, 2006). Clinical outcome and health management following positive results, factors predicting these outcomes, trends in decision- making and accepting the condition and trends in risk communication to the patients (Epstein, 2003).

Women who agree to undergo BRCA gene testing may finally expose the family situation. BRCA carrier testing is indicative of individual’s risk of contracting the disease. However, these tests open the door for a complex situation. BRCA gene testing reveals the hereditary risks of the other family members. This makes BRCA gene testing to translate from an individualistic stand to family affair. Therefore, psychosocial reactions affect all the family members. BRCA carriers

Ethical Issues:

DNA testing for breast and ovarian tumour is a new technology in disease prevention. Genomic profiling and genetic testing evoke various ethical concerns (Sabcl, 2009). BRCA testing has a significant impact on the individual and family. Long term psychological ramifications should be considered while carrying out the tests. Proper counselling and medical follow- up after the tests is still unknown. (Morrow& Jordan, 2003). Even in the presence of non- discriminatory legislation, BRCA carriers find themselves not eligible for life insurances.

Genetic testing of BRCA should be done by qualified health- care professional. The professional should be responsible for ordering and interpreting the test results. While individuals have the right to undergo genetic tests they should be informed of the inherent risks which are associated with confidentiality of the testing (Butter, 2003). The moral principle involved in BRCA testing concerns the individual autonomy for going for the test. Thus, the decision to undergo the test should be voluntary but not a forced action. The consent to follow up the medical care should also be voluntary. Even some of the genetic counsellors lack information to enable the patient arrives at an informed decision (Kimell, 2007). Ethical issues about BRCA testing have been discussed under the individual level, but they extend to the family perspective. Women who have been receiving radiation for breast cancer may be prompted to undergo BRCA test against her will but under the influence of the family members (Sabcl, 2009). The ethical implication in this case is that the decisions to undergo BRCA testing are often triggered by the sense of responsibility and commitment rather than personal decision. BRCA testing is life- changing and is filled with many ethical issues. Some of the ethical concerns that enrage during the test include; concerns regarding the information and informed consent, the right and the decision to be tested, confidentiality and privacy of the test results, the risk of discrimination and the responsibility to future generation (Peshkin, 2007). Individuals who decide to undergo BRCA testing because of familial and occupational obligations will have trouble with ethical issues than those who do the test under their own consent (Peshkin, 2007).

The execution of this research will ensure adherence to the ethical issues in relation to the research proposal. This is through promotion of honesty and transparency in the presentation of data. The research will also follow the conventional data analysis and presentation methods through the enhancement of objectivity. This is critical for the achievement of credible and reliable data for the development of concrete conclusion and theories in relation to the study. It is also ideal to acknowledge the essence of secondary sources or literature to avoid invasion of copyright protections. The execution of the research will also focus on the implementation of approved research design towards the achievement of the research reliability and credibility (Crow, 2008).

Methodological approach and design:

The methodology of this research majority will focus on the literature review. Through the review of several papers regarding BRCA gene testing, a wide range of perspective can be developed. The review of the journals on breast and ovarian cancer testing is informative on how the tests are carried out. The review will provide evidence about the importance of undergoing genetic counselling before BRCA testing is carried out (Aveyard, 2007). A psychological reaction from the result disclosure will be reviewed with comprehensive interpretation of the studies. The importance of this review is that it will generate a wide range of perspective on the testing of BRCA1 and BRCA2. The literature review brings an in- depth understanding of the psychological reactions after the test has been conducted (Creswell, 2007). The literature review highlights the importance of a follow-up medical program for the patient with positive results. After review of the several studies, psychological reactions towards BRCA gene testing are discussed. Due to time and resource limitations, the study will focus on extensive review of the relevant secondary sources in relation to the research question.

Research Design

Following the inclusion/exclusion criteria developed by Baldwin et al. (2002), only studies with empirical evidence will be used in this review. In addition, where there are duplications of the same material in more than one study, just one of the studies will be chosen. If the evidence differs, however, all the studies would be included. In the presence of literature or secondary sources that has been written in different language, only English literatures will be considered during the performance of this research. This research will also evaluate all relevant data or information sources with the motive of including only the latest literature source published in the last ten years. In the process of evaluating the valuable resources, the criteria will only include genetic analysis in relation to the BRCA 1 and BRCA 2 genetic testing.

Methods:

Prior to the conduction of any research, it is essential to collect information, and then analyze the relevant data to obtain an answer for the research question (s). To answer the above questions, rigorous search methods will be applicable in the acquisition of the relevant data. Several databases will be vital for the acquisition of the relevant literature (Fink, 2010). The National Cancer Institute database will provide one of the routes to retrieve information on BRCA1 and BRCA2 genetic testing (Machi & McEvoy, 2012). Pub Med will be vital in this research because richness in research papers with the essential information for the topic (Aveyard, 2007). Meds cape has fewer articles as compared to Pub Med, but it has rich information regarding BRCA gene testing.

The question in this will use both exclusion and inclusion criteria in the review. Both approaches will be essential in the identification of relevant material while at the same time focusing on the topic of the literature (Fink, 2010). In Inclusion criteria, a primary source focuses on BRCA1 and BRCA2 gene testing while the exclusion criteria focuses on other genetically acquired diseases. The reason for using both criteria is to enhance previous studies conducted on the topic. Electronic search will be used for understanding the psychological reactions following the disclosure of BRCA1 and BRCA2 test results (Hart, 1998). Both inclusion and exclusion criteria for the study will be as follow:

Inclusion Criteria Exclusion Criteria
Primary research on BRCA1 and BRCA2 genetic testing Focusing on genetic diseases
Literature concerning the genetic testing Literature relating to the outcome of genetic testing
Published literature only Published and Unpublished Literature
English literature only Literature with other languages apart from English
All the literature should not exceed more than ten years All relevant literature despite the year of publication
Literature relating to the views of the patients and care givers Literature relating to the case where patients have undergone BRCA testing

 

Sample and Data collection:

Comprehensive search of databases such as National Cancer Institute, Pub med, and Meds cape will be used in the research. The bulk of social and health care is found in the above databases. Relevant information on BRCA1 and BRCA2 genetic test is likely to be found on these databases. For data collection, the material used to obtain the information will be sufficient to support the argument. In this question, the effect of BRCA 1 and BRCA2 testing on an individual’s psychological aspect get huge consideration (Aveyard, 2007). The reviewed literature should have analysis of the emotional impacts on the individual. In order to certify whether the reviewed literature was sufficient, the search will be broken into distinct segments (Creswell, 2007). The first segment will determine what BRCA1 and BRCA2 genetic test entails while the second segment will look at the psychological reactions associated with the test.

In the research method, articles with the relevant information concerning BRCA1 and BRCA2 testing will be obtained. This information is specific in to the topic in question. Therefore, for approach of the research from the database will be fine- tuned to suit the topic. Use of the synonyms in the search will help in obtaining various articles. This entails the use of Boolean operators such as AND, OR and NOT. ‘AND’ will help in the narrowing of the search, ‘OR’ to widen the search range and ‘NOT’ in the exclusion of articles. Use of the brackets will help limit the search to exact word contained in the bracket. English papers will be chosen to enhance comparative analysis of the literature. For this paper, the search will begin by:

(Effects* OR impact* OR reaction* OR response*)

AND

(BRCA1 and BRCA2 testing)

AND

(Individual OR Patient OR Women)

Data Appraisal:

Analysis of data concerning the psychological effects of BRCA1 and BRCA2 testing will involve the examination of the articles found in the database. This will enhance reliability and credibility of the research. Critical appraisal skill program (CASP) finds its application in this literature review. The data obtained after the evaluation will be analyzed via other simplified approaches. Throughout the analysis process, relevant articles used in finding the answer for the question will be summarized based on the chronological order (Greenhalg, 2006). CASP tool contains the necessary guidelines for research. This tool helps in the evaluation of the studies with respect to the effect of psychological impacts of BRCA1 and BRCA2 genetic testing. CASP will be used in systemic reviews on the topic research and measurement of the outcomes in a local setting. Furthermore, this guideline will help in the analysis of randomized cohort studies, research and systemic reviews of the topic. The criteria will help in analyzing the strengths and weakness of research work. Each reviewed paper will be appraised in terms of its validity and convenience to the research question (Greenhalg, 2006).

Data Analysis

Literature review of relevant data will be followed by critical analysis through the application of research analysis method. This is through inclusion of the regression analysis to verify the extent of correlation between the research questions and the literature reviewed. This will be critical in enhancing the credibility and reliability of the research thus vital for the execution of this research (Creswell, 2007). Apart from the inclusion of the regression analysis, this research will also adopt the concept of relating the reviewed literature to the available research questions. This is essential in the achievement of validity of the research in the development of theories and effective conclusion thus critical for the research process.

Data Synthesis

The data synthesis in relation to the execution of this research will begin with the development of effective comparison in relation to the methods, findings, and the research questions. The data synthesis will also include the development of summary tables to illustrate the concepts of the PICO. The research will also adopt the concept of the PICO to enable quality review of the available information (Littell et al, 2007). This is through adoption of questions in the form of Population, Intervention, Comparison, and Outcome as elements of PICO in the execution of the literature review. This is to ensure that the interpretation or the synthesis of data is relevant to the audiences (Laake et al, 2007).

Limitation:

The purpose of any research is to find the vital information on the topic question. A limitation of a research is that it will not grab the entire target population. This is primary literature, which takes a sample population acting as a representative of the entire population. This forms a limitation of the research since it does not capture the actual situation. Every section of the research has its own limitation. This research will be a critical appraisal for several papers (Aveyard,2007). There is a limit to the number of answers given for these questions. It is therefore, recommended for one to choose the lowest number of limits possible in giving the answers. Another limitation is that what has been written is reflective of the past studies. Some of these studies serve as a guide to the current situation but do not represent the actual situation. Literature review may bring instances of subjectivity despite the objectivity in the goals. Subjectivity leads to personal opinion in the final deductions. This is a frequent case in literature reviews even when good instruments are put in place. Insufficiency of knowledge on the research topic will weaken the results of the study (Aveyard, 2007).

Time Frame:

The study will commence as from September 2012 to September i2013. The schedule for the main activities during the period is as follows:

Activity Date Due
Proposal preparation September to December 2012
Sample/Data collection January to March 2013
Findings and analysis April to May 2013
Conclusion and Recommendations June 2013
Final project preparation July to September 2013

 

Dissemination:

The main objective of this literature review is to provide a knowledge base on psychological reactions of an individual towards BRCA1 and BRCA2 genetic testing. This research will add up extra knowledge to the existing one and offer better opportunities to the new research. In this case, the results for this research will act like a database for those interested in psychological impacts of genetic testing.

 

 

 

 

 

 

 

 

REFERENCES:

Aveyard, Helen. Doing a literature review in health and social care a practical guide. Maidenhead: open University Press, 2007.

Creswell, John W. inquiry& research design: choosing among five approaches. 2nd ed. Thousand Oaks: Sage Publications, 2007.

Devettere, Raymond J. Practical decision making in health care ethics cases and concepts. Washington, D.C:Georgetown University Press, 1995.

Diarnands, Eleftherios P. Tumor markers: physiology, pathobiology, technology, and clinical applications. Washington, DC: AACC Press, 2002.

Epstein, R,J.. Human molecular biology: an introduction to the molecular basis of health and disease. Cambridge, Uk: Cambridge University Press, 2003.

Fink, Arlene. Conducting Research Literature Reviews– 3rd Ed: From the Internet to Paper. Thousand Oaks: Sage Publications, Inc, 2010.

Doxiadis, Spyros. Ethical issues in preventive medicine. Dordrecht: Nijhoff; 1985.

Greenhalgh, Trisha. How to read a paper: the basics of evidence- based medicine. 3rd ed. Malden, Mass: BMJ Books/Blackwell Pub., 2006.

Hart, Chris. Doing a literature review: releasing the social science research imagination. London: Sage Publications, 1998.

Machi, Lawarence A., and Brenda T. McEvoy. The literature review: six steps to success. Thousand Oaks, Calif: Crowin Press,2009.

Colt, Nancy F. History of women in the United States: historical articles on women’s lives and activities. Munich: K.G.saur, 1992.

Hunt, Kelly K. Breast cancer. 2nd ed. New York: Springer, 2008.

Lashley, Felissa R. Essentials of clinical genetics in nursing practice. New York: Springer Pub,2007.

Miller, Thornas W. Handbook of stressful transitions across the lifespan. New York: Springer, 2010.

Morrow, Monica, and V. Craig Jordan. Managing breast cancer risk. Hamilton, Ont., : BC Decker Inc.,2003.

Potter, John D., and Naoralance M. Lindor. Genetics of colorectal cancer. New York: Springer, 2009.

Peshkin, Beth N. Genetic counselling in breast cancer. Arnsterdam: IOS Press, 2007.

Punch K. (2006) developing Effective Research proposal (2nd edition) London: Sage.

Sabel, Michael s. Essentials of breast surgery. Philadelphia, PA: Mosby/ Elsevier, 2009.

Sharpe, Neil F, and Ronald F. Carter. Genetic testing: care, consent, and liability. Hoboken, N.J.: Wiley- Liss, 2006.

Stiefel, Friedrich C. Communication in cancer care. New York: Springer, 2006.

Laake, Petter, Haakon B. Benestad, and Bjørn R. Olsen. Research Methodology in the Medical         and Biological Sciences. Amsterdam: Academic, 2007. Print.

Littell, Julia H, Jacqueline Corcoran, and Vijayan K. Pillai. Systematic Reviews and Meta-       Analysis. Oxford: Oxford University Press, 2008. Print.

Crow, Iain, and Natasha Semmens. Researching Criminology. Maidenhead: Open University Press, 2008. Print.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Latest Assignments