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Step 4: Risk Communication and Risk Management
After all of the data are collected and evaluated, the next step in risk assessment is communicating the findings for the purpose of keeping the individual informed of his or her potential risk for an inherited disorder or chronic disease. Risk communication starts the process for appropriate risk management. Management is based on whether the individual is at population, moderate, or high risk (genetic disorder) for disease. If it is determined that the patient is suspect for a genetic disorder based upon his or her personal and/or family history, genetic counseling should begin, ensuring that ethical, legal, and social issues are considered. Genetic counseling often warrants referral to genetic professionals for further evaluation, pretest counseling if indicated, genetic testing, interpretation, and posttest follow-up for results and management of care.
Objectives
1. Discuss complexities of risk communication in patients suspect for an inherited disorder
2. Apply risk communication and risk management for a patient above population risk for a chronic disease
3. Describe ethical, legal, and social implications of individuals suspect for a genetic disorder
Once the genomic risk assessment process is completed and reviewed, communication of the results should be provided to the patient. What does the risk assessment process reveal regarding the patient’s probability for a genetic disorder? Are there red flags warranting genetic counseling and consideration for genetic testing?
When the History Is Suspect for an Inherited Disorder
If the findings of the risk assessment process reveal that the individual is “suspect” for an inherited disorder, risk communication should begin. This risk communication process includes the need for genetic counseling and possibly genetic testing. For example, predictive and presymptomatic genetic testing can be used to detect if a genetic mutation exists that may not be present until later in life like that of most hereditary breast cancer syndromes (see Chapter 11). Carrier testing can identify individuals who may carry one copy of a gene mutation that can be important in preconception counseling and future pregnancy interest (see Chapter 9). Genetic testing can also be useful toward implementation of measures to reduce disease occurrence risk (e.g., chemoprevention or risk-reduction surgery for some individuals with breast cancer risk), determine management of care, and select therapeutic options such as occurs in surgical decision making (e.g., BRCA mutation positive patient with newly diagnosed breast cancer deciding on surgical options), as well as a means to monitor or treat disease. Newborn screening, for example, also involves a variety of genetic tests to identify genetic disorders in neonates that can be treated if detected early like phenylketonuria (PKU) and congenital hypothyroidism (see Chapter 10; Lister Hill National Center for Biomedical Communications, U.S. National Library of Medicine [NLM], 2017).
Patients who are suspect for a genomic disorder based on the assessment process should be informed of the assessment findings and the significance of the findings to a possible genetic disorder. The patient should be provided genetic counseling to discuss the potential of a genetic disorder, the availability of genetic testing, and potential consequences of positive results. According to the American Society of Human Genetics (n.d.), the goals of genetic counseling are to “assist the individual/family in 87understanding: (1) the diagnosis and implications of a condition; (2) the role of heredity; (3) recurrence risks and options; (4) possible courses of action; and (5) methods of on-going adjustment” (para. 3). The genetic counseling process involves interpreting and communicating complex information from the risk assessment process and how this information is associated with a potential genetic disorder and the need for genetic testing. The counseling process involves helping individuals make informed, independent decisions about their health care options, including genetic testing, while respecting the individual’s beliefs, traditions, religion, family goals, and feelings (U.S. NLM, 2016). A genetic disorder, however, can affect various areas of one’s life including financial, physical, social, medical, and overall quality of life. The need to consider ethical concerns is an important part of the counseling process pertaining to issues of confidentiality, insurance considerations, fear of discrimination, and employment (Bennett, 2010). The genetic counseling process should entail pretest and posttest discussions, benefits and limitations of genetic testing, varied results that may occur from genetic testing (e.g., mutation found; uninformative; variant of uncertain significance [VUS]), and implication of results regarding future management of care or risk management. The process is often complex, warranting genetic knowledge and skills from the advanced practice registered nurse (APRN) to avoid potential harm to the patient. Harm can be psychological, particularly when psychosocial issues of the disorder are not considered before testing, or physical as a result of incorrect testing or incorrect results interpretation. Therefore, the APRN must have knowledge and experience in genetics and genetic counseling to determine if testing is indicated; the type of test or tests to order; how to conduct genetic counseling including pre- and posttest counseling; a knowledge of the ethical, legal, and social implications of genetic testing; results interpretation; and in some cases who the appropriate family member is to test (e.g., informative member). These issues may even be more complex when children or minors are in need of testing, because the underage genetic testing of minors for adult-onset disease is not recommended in certain disorders like hereditary breast and ovarian cancer (HBOC; Charlisse, Caga-anan, Smith, Sharp, & Lantos, 2012) but may be required in cases like an inherited colon cancer syndrome such as familial adenomatous polyposis (FAP) where children may manifest with early age onset of the disease. Because of the myriad of knowledge and skills required for most genetic tests, we recommend referral to an individual expert in genetic testing (e.g., advanced genetics nurse [AGN], genetic counselor, medical 88geneticist) for further evaluation, counseling, and considerations for genetic testing.
Some health providers, including APRNs, may ask “why should one refer for genetic testing?” Let us look at some potential issues involved in genetic testing. First, genetic diagnosis can be complex as some disorders may involve numerous genes requiring correct decision making on what type of testing is indicated. For example, there are many genes that can cause hereditary colon cancer syndromes (see Chapter 11); therefore, genetic testing for some disorders can be challenging. Second, many genetic tests are not the same as other forms of laboratory testing where results may be clear and definitive. Important information to discuss with patients regarding genetic tests is what the results mean. In fact, certain genetic tests, while indicating no mutation found, may be uninformative in providing a reason for the personal or family history of disease unless a known mutation is noted to be in the family (e.g., a person with results indicating “no mutation” where a known mutation in the family is considered “negative”). Results may also reveal a VUS indicating that the variation in the genetic sequence and its association with disease is currently unknown and the finding cannot be classified as either pathogenic or benign. Individuals with a VUS on genetic test results often warrant future follow-up until the classification of the VUS is found to be pathogenic or benign. These findings may be misinterpreted by health care providers or others, resulting in inappropriate medical interventions or undue patient stress (Robson, Bradbury, Arun, Domcheck, & Ford, 2015). Uninformative or VUS results also warrant discussion of risk management (e.g., breast cancer, colon cancer, cardiovascular disease [CVD] risks) as testing was based upon the personal and/or family history that was suspect for an inherited predisposition to disease, meaning that despite an uninformative finding, the patient may still warrant significant management to prevent future risk of disease depending upon the personal/family history. Also, depending on the genetic disorder, mutation-positive test results may leave many unanswered questions as some genetic conditions may or may not lead to disease depending upon penetrance. Certain genetic disorders may have various means of disease presentation based upon their expressivity. Posttest counseling should include a detailed discussion of these issues as they relate to risk management and future management of care.
There are other issues to consider when ordering genetic tests. Because of the advances in technology regarding genetics, testing may involve numerous genes that predispose to a specific disease. For example, there 89are many germline mutations to consider when evaluating an individual for a colon cancer syndrome or a breast cancer syndrome. Genetic panel testing like that of next-generation sequencing (NGS) may be considered as a part of genetic testing for multiple syndromes that may cause a similar disease. These multigene panels can evaluate a large number of genes depending upon the genetic disorder evaluated. The use of the panels has a benefit in evaluating for a number of genes, enabling the potential for a quicker diagnosis and reducing or eliminating the need for the patient to have further testing; in addition, many multigene panels are cheaper when considering the cost of numerous single-gene tests. However, NGS or multigene testing has disadvantages. Because of the numerous genes tested, the possibility of one or more VUS findings may occur, leading to patient anxiety. In addition, incidental unexpected test findings may result, further causing anxiety and impacting future management of care that was not anticipated. Therefore, pretest and posttest counseling should be an integral part when considering genetic testing to discuss these issues and include an informed consent before testing (Robson et al., 2015).
The supportive, emotional element of risk communication is as important as the educational elements of risk communication (Edwards et al., 2008). The emotional element of genetic testing should be considered before ordering testing. People may feel angry, guilty, and/or depressed about the test results. Depending on the patient and genetic test, consideration for additional emotional counseling may be needed. In addition, fears of genetic discrimination or employment issues may also be concerning to patients. In 2008, the Genetic Information Nondiscrimination Act (GINA) was signed into law preventing discrimination against people based on their genetic information (National Human Genome Research Institute [NHGRI], 2012). This legislation bars health insurance companies and employers from discriminating against individuals on the basis of their genetic information. However, there are limitations to this law as individuals may be refused life insurance and long-term care insurance (NHGRI, 2012).
Family dynamics is another issue regarding genetic testing as positive findings often have implications for other members. Because of privacy issues, disclosure of results to other family members is the responsibility of the affected patient, warranting the health care provider to ensure the patient’s understanding of the genetic results and implications to other family members. Some family members may have information they are reluctant to share that leads to dilemmas and ethical issues; thus, it is important that the patient has a clear understanding of the genetic test results and implications to other family members if applicable regarding the patient’s responsibility of results’ sharing. Table 8.1 provides a list of genetic counseling resources for clinical practice when an inherited genetic condition and additional resources are needed.
