Genetics and Ethics in Nursing: Cancer Prevention for Clients with Inherited Cancer Risk
Cathleen M. Goetsch MSN, ARNP, AOCNP
Genetic technologies and understanding of the role genes play in health and illness has expanded phenomenally in the last decade and a half. Breakthroughs in gene identification and sequencing characterized the early 1990s. The long held view of cancer as a genetic disease gained adherents. Even in acquired gene mutations, individual response to illness and risk reduction efforts may be mediated by genetic factors (Giarelli, Jacobs, and Jenkins 2002). Although most genetic changes that influence cancer development are acquired as time goes by, an important few heritable mutations are recognized in described cancer family syndromes. A small number of genes, associated with specific syndromes have been located and sequenced. Genetic testing can be used to confirm a clinical diagnosis or, in the case of cancer family syndromes, can identify potential excess risk in asymptomatic individuals (Burke 2002).
Progress in identification of individuals with inborn errors, who bear excess cancer risk, offers the possibility of intervening to moderate, reduce, and hopefully eliminate cancer risk (Reiger 2003). The essential role of the nurse in meeting the multiple needs of individuals, families, and communities with health risk related to genetic disorders is well demonstrated in the area of cancer prevention (Giarelli, Jacobs, and Jenkins 2002; Greco and Mahon 2004; Jenkins and Lea 2005; Tranin, Masny, and Jenkins 2003). This important healthcare activity is laden with potential ethical challenges for nurses and other providers of genetic services (Flach 2002).
Nursing is commonly considered an inherently ethical profession (Bishop and Scudder 1996). This is an example of virtue ethics where good intention defines morality (Flach 2002). The American Nurses Association (ANA) supports this view, defining advocacy as the primary nursing ethic (2001). Nurses have both the duty and the intention to protect and promote the health and well-being of their client, whether an individual or a group. Advocacy aids the client in gaining sufficient and appropriate information in order to make informed health decisions and then facilitates the decision-making process. The practice of advocacy and intent to improve client health is referred to as caring presence (Bishop and Scudder 1996). The caring nurse’s practice of advocacy requires attention, efficiency, and efficacy.
Some systems of ethics delineate moral behavior as upholding recognized principles. Those most often used in discussions of bioethics include respect for autonomy (self-determination, the right to choose for oneself), non-maleficence (to do no harm), beneficence (good intention), and justice (equity and fairness). Respect for confidentiality and privacy, veracity (telling the truth), and fidelity (being trustworthy in performance of duty) are also important ethical principles that contribute to achievement of the prior four (Bishop and Scudder 1996; Flach 2002; Greco and Mahon 2004). For some, utility is the strongest guiding principle: a moral decision results in the best outcome. The difficulty in decision-making lies with the person or group who makes that judgment (Weed and McKeown 2003).
Under the ethical construct of casuistry, ethical behavior is determined by the individual characteristics in a situation. By contrast, normative ethics have specific precepts for what is absolutely right and wrong moral behavior (Flach 2002). Individual nurses may have such deeply held personal beliefs, but must balance them carefully against meeting the needs of their clients (Parascandola 2003). Nurses are often the moderators in the setting of multiple conflicting beliefs about what is right. Influences on ethical decisions include economic, political, socio-cultural, religious, scientific-technological, and personal experience. The nurse acts as a translator, mediator, guide, interpreter, and facilitator with the required outcome being client empowerment and the prime obligation being competency in performance (Flach 2002).
Use of evidenced-based practice helps ensure competency in advocacy. Nursing activities are consistent with all of the ethical approaches described above, and each one may play a role in the cancer prevention setting with clients experiencing inherited predisposition to cancer.
Use of evidenced-based practice helps ensure competency in advocacy. Nursing activities are consistent with all of the ethical approaches described above, and each one may play a role in the cancer prevention setting with clients experiencing inherited predisposition to cancer.
Demand for and Access to Genetic Information
The consumer advocacy and patients’ rights movements, along with the globalization of instantaneous communication and expanded access to data through technological advances, have all contributed to the demand for personal genetic information. The popular press complicates this demand with sensationalized reporting of inaccurate or incomplete research results. The wish to discover risk information may be based on unrealistic expectations (Greco and Mahon 2004). Most individuals seeking genetic testing do so in the hope of ruling out extreme risk.
One obvious role for nursing is in helping clients sort out the applicability and meaning of genetic information. Unfortunately, access to this information is currently limited to those with the resources to obtain up-to-date health care and who are well enough educated to request such service; typically middle- and upper-class urbanites. Reducing disparities in access to health information and health care, including genetics services, is an important ethical activity for genetic nurses. Individuals and groups whose access to genetic services is limited by geographical, social, emotional, economic, and educational disadvantage require advocacy at the national and international levels (Castiel 2003). Genetic nurses are leading efforts to relieve this inequity, a performance in pursuit of the ethical principle of justice (Cunningham 2002; Jenkins and Mansy 2003).
Communicating Risk
Nurses have an important role in assisting their clients to obtain and understand genetic risk information. Risk communication is essential but fraught with pitfalls. The probabilistic nature of risk is difficult to convey. Communicating the information that increased risk exists may cause anxiety. The intrinsic uncertainty caused by receiving notice of genetic risk may also cause worry (Greco and Mahon 2004). Since much of the risk estimation literature may not be transferable to diverse populations, even making a reasonable risk estimate may be difficult (Baltzell and Wrensch 2005; Bondy and Newman 2003; Domchek, Eisen, Calzone, Stopfer, Blackwood, and Weber 2003). Most people in the general population inaccurately estimate their risk of cancer, and this has been demonstrated in a high-risk population as well (Hass, Kaplan, Des Jarlais, Gildengoin, Perez-Staable, and Kerlikowse 2005;
Metcalfe and Narod 2005). Helping individuals with known genetic mutations understand the magnitude of their cancer risk is even more demanding.
Metcalfe and Narod 2005). Helping individuals with known genetic mutations understand the magnitude of their cancer risk is even more demanding.
The innate ethical challenge here is related to the principle of autonomy or self-determination. Clients with inherited cancer risk have the right to make their own informed decisions based on adequate information. The right to know as opposed to the right not to know is another part of this issue. It may be addressed before the client reaches the healthcare system, or it may be a key component of the counseling required as a genetic cancer predisposition is revealed (Greco and Mahon 1994).
In relaying information the caring nurse advocate considers the knowledge base, level of understanding, learning style, and coping skills of the client in facilitating the communication of risk. A team approach increases the number of times the learner hears the information. In addition to the client, the team may include specialty genetics providers (physician, PhD geneticist, genetic counselor, clinical nurse specialist, or nurse practitioner), radiology (physicians and radiation technologists), medical oncology, oncology nursing, radiation oncology, pathology, surgical teams (physicians and nurses specializing in breast surgery, gynecological oncology, plastic surgery, GI surgery), social workers, psychiatry and psychology specialists, financial counselors, support groups, family, friends, and employer personnel representatives. Having more than one team member provide information may help the client understand their condition and the risk for future problems.
One of the most difficult aspects of risk communication is putting risk and risk reduction in understandable terms (Jennings-Dozier and Foltz 2002; Mahon 2003). For the nurse to communicate accurately, knowledge of common ways of quantifying risk is required. Explaining the difference between the chances of developing breast cancer and the likelihood of dying from breast cancer is an important part of cancer prevention counseling. Relative risk and odds ratios are frequently used to demonstrate magnitude of cancer risk. Finding ways to personalize risk statistics promotes client empowerment. Interpreting the credibility of the sources of risk information is another important nursing activity. Are the estimates based on reliable methods? How transferable are they to the individual client? The nurse advocate can help clients clarify and give appropriate weight to conflicting information. Knowledge really is powerful if effective risk management results from the knowing.
Prioritizing Magnitude of Risk
Discussion of cancer risk in the instance of an inherited predisposition syndrome does not involve a single risk, but multiple risks. Additionally the client may be dealing with a current diagnosis of cancer. Helping the client to recognize the current cancer as the most profound threat to health assists in clarifying a sequence of actions. Putting prevention activities in this perspective aids in relieving the urge to address all risks with equal force.
Managing Risk
Once a meaningful estimate of risk has been made, the expectation is that the risk can, and should be, managed, modified, and reduced. However, as Jenkins and Lea (2005) have noted, merely having information about genetic risk does not ensure action to reduce risk even if appropriate risk reduction options exist. Communicating accurate information regarding availability and efficacy of risk reduction activities is essential to creating and individualizing a risk reduction plan. Conflicting allegiances may arise as the duty to warn family members of risk competes with maintaining privacy and confidentiality for the client of record. Fears of discrimination and stigmatization must also be addressed.
What is known about reducing risk, what is the quality of the evidence, and how does the information apply in the individual case? What are the benefits versus new problems that might be caused by the intervention? What are the likely short-term versus long-term outcomes? How will the action affect quality of life? The ethical nurse advocate acts to ensure the client has the means to answer these and other applicable questions before decisions regarding risk reduction are made or interventions instituted. If the nurse does not have the competencies necessary to fill this role, an appropriate referral must be made (Greco and Mahon 2004).
Cancer Prevention Strategies
Primary Prevention
Interventions to impede or delay the onset of cancer are primary prevention activities. Educating clients about options, efficacy, and assisting in effective behavior change is a bedrock nursing advocacy role.
Avoidance of Risk
Some activities, behaviors, and exposures are known to increase cancer risk in the general population. Individuals with inherited cancer predisposition may be more sensitive to known factors. However, those with elevated baseline cancer risk need assistance to recognize activities that add to their already excessive cancer risk.
Tobacco and alcohol are both associated with substantial epidemiological increase in cancer risk. Variations in CYP genes leave some individuals with ineffective or low levels of enzymes that function to detoxify the carcinogens in tobacco smoke, resulting in an increased risk of lung cancer (Jenkins and Masny 2003). How much incremental risk is added to baseline risk from inherited cancer predisposition mutation is unknown. However, since these are modifiable risk factors, all clients should be counseled to avoid tobacco use and that even moderate alcohol use raises risk of many cancers (Barse 2003; Schneider 2002; Stucky-Marshall and O’Brien 2002).
Radiation exposure has long been known to cause DNA damage that can lead to subsequent higher cancer risk. Some inherited syndromes are associated with increased sensitivity to radiation and require special planning for screening that limits radiation contact (Reiger 2003). Thoughtful clients will want to consider whether the increased risk associated with recommendations for more frequent screening is justified by better outcomes. Current research findings supports appropriate frequency of screening for better detection, but information about overall change in life expectancy is not yet available. Communicating uncertainty and supporting individuals living with uncertainty may be a role familiar to many nurses.
Dietary changes to diminish cancer risk have been studied by various methods. Epidemiological data suggest the benefits of low-fat, high-fiber diets for cancer risk reduction, but results from clinical trials have produced contradictory conclusions (Beresford, Johnson, Ritenbaugh, Lasser, Snetselaar, Black, et al. 2006; Prentice, Caan, Chelbowski, Patterson, Kueller, Ockene, et al. 2006). Coaching clients to make dietary changes in hope of decreasing cancer risk may be justified as an approach that may help and probably won’t hurt, rather than being grounded in definitive study findings.
The effect of hormones on cancer risk has been explored in many settings. Use of either birth control pills (BCP) or hormone replacement therapy (HRT) has been shown to have both benefit and risk in average and high-risk groups (Lacey, Mink, Lubin, Sherman, Troisi, Hartge, et al. 2002; Narod, Risch, Molslehi, Dorum, Neuhausen, Olsson, et al. 1998;
Riman, Dickman, Nilsson, Correia, Nordliner, Magnusson, et al. 2002; Rossouw, Anderson, Prentice, La Croix, Kooperberg, Stefanick, et al. 2002). Some behavior choices may also modulate endogenous hormonal effect. Age at first live birth and effect of breast-feeding have both been studied as moderators of breast cancer risk (Gail, Brinton, Byar, Corle, Green, Schairer, et al. 1989; Jernström, Lubinski, Lynch, Ghadirian, Neuhausen, Isaacs, et al. 2004). Careful consideration of potential individual risk must be compared to possible benefit that may result from each of the various choices available. The timing and duration of hormone use is also controversial and should be addressed as part of a risk management plan. Clearly more research is needed in this area.
Riman, Dickman, Nilsson, Correia, Nordliner, Magnusson, et al. 2002; Rossouw, Anderson, Prentice, La Croix, Kooperberg, Stefanick, et al. 2002). Some behavior choices may also modulate endogenous hormonal effect. Age at first live birth and effect of breast-feeding have both been studied as moderators of breast cancer risk (Gail, Brinton, Byar, Corle, Green, Schairer, et al. 1989; Jernström, Lubinski, Lynch, Ghadirian, Neuhausen, Isaacs, et al. 2004). Careful consideration of potential individual risk must be compared to possible benefit that may result from each of the various choices available. The timing and duration of hormone use is also controversial and should be addressed as part of a risk management plan. Clearly more research is needed in this area.
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