Healthy People 2020: Genomics
Genomics is changing healthcare as we know it. Prevention plays a key role in nursing practice, making it obvious as to why genomics has and will continue to be such a vital component in patient care. Medical history is a great indicator of risk factors for patients, this includes family history (inherited genes), and social history (lifestyle choices); incorporation of the environment and how a person’s genes react to stressors are also indicative of risk factors. One area of focus in this paper will be the identification of the BRCA 1/2 gene mutation through genetic testing, and its profound impact on the prevention, prognosis, diagnosis, and treatment of breast cancer for women. The objective that will be emphasized throughout this paper comes from Healthy People 2020 (2012), and it is “to increase the proportion of women with a family history of breast and/or ovarian cancer who receive genetic counseling”. In accordance to this objective, women with BRCA1/2 mutations that choose to have surgery, can reduce the risk of ovarian and breast cancer by 85 percent or more (Healthy People 2020, 2012). Core Functions Assessment
The main attribute in the incorporation of genomics into medical care is the fact that it is completely personalized patient care. Individualized care is what is best for the patient, because interventions will be based on evidence that comes from the patients own DNA. Genetic counseling is also important in patient care, because the patient must know what to expect; included would be emotional support and counseling on possible lifestyle changes they may need to make (depending on results of tests). Once the results of genetic tests are identified, it is up to the healthcare team to help the client consider and apply necessary interventions (i.e. lifestyle changes). The Personalized Health Care Initiative, instituted by the U.S. Department of Health and Human Services, goal is to “improve the safety, quality, and effectiveness of health care for every client in the United States” (Stanhope & Lancaster, 2012). The initiative includes the following goals: (1) Link clinical and genomic information to support personalized health care; (2) Protect individuals from discrimination based on unauthorized use of genetic information; (3) Ensure the accuracy and clinical validity of genetic tests performed for medical application purposes; (4) Develop common policies for access to genomic databases for federally sponsored programs. (Stanhope & Lancaster, 2012, p. 247) Assurance
Genetic interpretation and application is very complex, so it must be assured to the client that the healthcare provider’s are competent in this area, which is why the CDC created “Genomic Competencies for the Public Health Workforce” in 2001. According to the CDC (2006), a public health worker should be able to perform the following: (1) Demonstrate basic knowledge of the role that genomics plays in the development of disease; (2) Identify limits of his or her genomic expertise; (3) Make appropriate referrals to those with more genomic expertise. (Stanhope & Lancaster, 2012, p. 246) In addition to healthcare provider competencies, one must also consider the actual tests and whether or not there is sufficient evidence to support the reliability or validity of these tests. “Currently, the Centers for Disease Control and Prevention (CDC), the Centers for Medicare Services (CMS), and the Federal Drug Administration (FDA) have oversight of genetic tests and products. The National Institutes of Health (NIH), Health Resources and Services Administration (HRSA), and Agency for Healthcare Research and Quality (AHRQ) support research related to genetic tests and products” (Stanhope & Lancaster, 2012, p. 246). Another important consideration is the ethical and legal aspect of genetic testing. Many patients avoid disclosure of certain information, and genetic testing because they fear insurance eligibility or employment discrimination. Some people may be unaware that there are laws to protect them against discrimination, such as the Genetic Information Nondiscrimination Act (GINA), which took effect in 2009. It was designed to prohibit the improper use of genetic information in health insurance and employment. This act prevents group health plans and health insurers from denying coverage to a healthy individual or charging higher premiums based solely on genetic predisposition to a disease. This legislation also prohibits employers from using individuals’ genetic information when making hiring, firing, job placement, or promotion decisions (Stanhope & Lancaster, 2012, p. 246-247). Epidemiology BRCA 1/2 Gene Mutation
“The scope of the work for nurses in genetics changed in the early 1990s when the BRCA-1 gene for familial breast cancer was mapped and cloned. This moved the scope of genetic work from diagnosis and management to that of risk identification” (Stanhope & Lancaster, 2012, p. 248). Before being tested, a patient should do genetic counseling with a specialist or a genetic nurse, so that they can provide a detailed medical and family history. “The nurse can counsel the patients about BRCA-1 and BRCA-2 mutations and also about the influence of environmental factors such as diet, smoking, alcohol use and exercise and their relationship to cancer susceptibility” (Stanhope & Lancaster, 2012, p. 248). In the article Understanding the Genetics of Breast Cancer: A Clinical Overview by Carrie Jimenez-Johnson (2009), she states: For women in the United States, breast cancer is the second leading cause of cancer deaths, exceeded only by lung cancer. Breast cancer must be diagnosed at the earliest possible stage in order to provide the most favorable chance of survival. Women with an increased risk are those with a family history of breast cancer, especially if the cancer occurs in a first degree relative such as a mother, sister, or daughter. If more than one first-degree relative has developed breast cancer, especially below the age of 40, the cancer is likely that the cancer is due to an inherited mutation in the breast cancer susceptibility genes BRCA1 or BRCA2. To have a better understanding of what the mutation of the BRCA genes entail, Carrie Jimenez-Johnson (2009) gives a brief overview of what the BRCA genes are: The BRCA genes are considered caretaker genes. These genes act as sensors for DNA damage and participate in the repair process. The inactivation of these genes allows for other genetic defects and leads to genetic instability. For both BRCA1 and BRCA2 genes, the cancer risks are influenced by the position of the mutation within the gene sequence.
BRCA1/2 test results can even provide important information for family members. The CDC (2011) states that: For families where a person is found to have a BRCA1/2 mutation— * On average, half (50%) of this person’s first-degree relatives will also have the mutation. * Family members who do have the mutation may benefit from the medical options discussed later on. * Family members who do not have the mutation can benefit from learning they are not at higher risk than the average person for breast and/or ovarian cancer. They also cannot pass the mutation on to their children. Nursing Process Assessment
The patients personal and/or family history can help reveal his or her likelihood of carrying a BRCA1 or BRCA2 mutation. Listed below are some ways to assess whether or not a patient should be considered for genetic and genomic testing. Applying/integrating genetic and genomic knowledge (Stanhope & Lancaster, 2012): * Obtain a family health history (minimum of 3 generations) and construct a pedigree from collected family history information using standardized symbols and terminology. * Collect personal, health, and developmental histories that consider genetic, environmental, and genomic influences and risk factors. * Critically analyze the history and physical assessment findings for genetic, environmental, and genomic influences and risk factors. * Assess clients’ knowledge, perceptions, and responses to genetic and genomic information. * Develop plan of care that incorporate genetic and genomic assessment information. * Be able to define issues that undermine the rights of all clients for autonomous, informed genetic- and genomic-related decision-making and voluntary action. * Provide clients with credible, accurate, appropriate, and current genomic information, resources, services, and/or technologies that facilitate decision-making. * Use of genetic- and genomic-based interventions and information to improve clients’ outcomes. Performing interventions and treatments appropriate to clients’ genetic and genomic healthcare needs. * Collaboration with health care providers in providing genetic and genomic health care. Collaboration with insurance providers and payers to facilitate reimbursement for genetic and genomic health care services. Helpful tips for risk assessment: The “genetic red flags” developed by the National Coalition of Health Professional Education in Genetics provide an excellent tool to determine if an individual or family might be at risk. The group says that the primary red flag for most common diseases is a large number of affected relatives who are closely related. Some of the red flags include the following: 1. Family history of multiple affected family members with the same or related disorders, which may or may not follow an identifiable pattern in the family. 2. Onset at an earlier age than expected. Condition occurrence in the gender that is least expected to have it. 3. Disease occurrence in the absence of known risk factors. 4. Ethnic predisposition or certain genetic disorders. 5. Close biological relationship existing between parents. (From www.nchpeg.org; Sept. 2010; as cited by Stanhope & Lancaster, 2012) Interventions Guiding the family in changing any behaviors in order to minimize the effect of the disease is of great importance if a genetic link, or a probable disease is found. This can include lifestyle changes such as exercise, diet change, smoking cessation, etc. Referrals should be made for specialized genetic/genomic testing as needed. There are many medical options available to help those who have the BRCA 1/2 gene mutations, and who are at risk for breast cancer. Clients with a high-risk predisposition to breast cancer can take the preventative measure by having surgery to remove the breasts, though this is a very controversial topic. There are risks and benefits, so the health care provider must discuss the consequences and the possibility that prophylactic surgery might not always be successful. Chemoprevention (tamoxifen) may be considered for breast cancer risk reduction in women with a genetic predisposition to breast cancer (Carrie Jimenez-Johnson, 2009). Some of these interventions will require a substantial amount of emotional support, and therapy. According to the CDC (Center for Disease Control) (2011), there are other options that may reduce the risk or improve the likelihood of detecting cancer related to this mutation earlier on such as: screening with mammograms at a younger age (and more frequently), taking medications to lower the chance of developing breast or ovarian cancer, and other lifestyle modifications. “Nurses bring a biobehavioral perspective that includes emphasis on prevention and health promotion for individuals, families, and communities” (Stanhope & Lancaster, 2012, p. 251). Evaluation
The nurse will evaluate the effectiveness and impact of genomic technology, information, interventions, and treatments on clients’ outcomes (Stanhope & Lancaster, 2012). Also, a baseline assessment should be obtained so that the nurse can evaluate lifestyle changes, and ensure follow-up appointments. Evaluation of any adverse reactions, or postoperative care of prophylactic treatment is also necessary, while also continually evaluating the emotional impact and psychological state of the client.
C. Jimenez-Johnson: Understanding the Genetics of Breast Cancer: A Clinical Overview. The Internet Journal of Advanced Nursing Practice. 2009 Volume 10 Number 1. DOI: 10.5580/1106 Lancaster, J., Stanhope, M. (2012). Public Health Nursing: Population-Centered Health Care in the Community. Maryland Heights, MO: Elsevier.