Genetic Counseling, Practice of
GENETIC COUNSELING, PRACTICE OF•••
Genetic counseling is a relatively new medical counseling service that aims to help those affected by genetic conditions or who face increased genetic risk. Clients seek this service asking questions about why a condition occurred, the chances that it may occur again in the future, and how they may be helped to cope with the uncertainty, risk, or prognosis of a diagnosis. Genetic counseling is often provided by a team of genetics providers (medical geneticists, master's level genetic counselors, and genetic nurses) in a specialty clinic within a hospital, university medical center, or in a community outpatient setting. Attention is paid to the medical, informational, and emotional needs of clients and their family members related to genetic conditions or birth defects.
Genetic counseling began in the United States in the 1930s when the academic discipline of genetics emerged and Mendelian principles of single gene inheritance could be applied to human conditions. The first practitioners were academic geneticists who were approached by individuals with concerns about their own family history. In the 1940s the field of human genetics was established, followed by medical specialization in genetics that focused on the diagnosis and natural history of genetic conditions. Shortly thereafter in the 1970s, the profession of genetic counseling was established in the United States. Practitioners earn a master's degree and are trained in both human genetics and psychological counseling skills. As of 2002 there were estimated to be over 2,000 genetic counselors practicing in the United States and Canada. Genetic counselors are credentialed by the American Board of Genetic Counseling to uphold practice standards. These professionals work with medical geneticists and obstetricians to provide education and counseling related to risk or diagnosis of a genetic condition or congenital anomaly.
Genetic counseling makes genetic information available to clients and facilitates their use of that information. Genetic information is important to understanding the cause of conditions, making informed choices, and adapting to genetic risk. The range of information provided includes the medical diagnosis, the inheritance pattern, the risk of recurrence, medical management or surveillance, prognosis, schooling needs, support groups, financial issues, and reproductive options. Since clients often seek services around significant life events or crises, the information is often highly sensitive, such as predicting the health of future children, the likeli-hood of a late onset condition, or the loss of an affected child. Discussion of genetic conditions or risks may therefore elicit feelings of lowered self-esteem, guilt, shame, loss, and blame for parents of affected children. Overall addressing the cognitive, affective, and behavioral aspects of clients' responses to the information are central components to genetic counseling. A practice definition states that:
Genetic counseling is a dynamic psychoeducational process centered on genetic information. Within a therapeutic relationship established between providers and clients, clients are helped to personalize technical and probabilistic genetic information, to promote self-determination, and to enhance their ability to adapt over time. The overarching goal is to facilitate clients' ability to use genetic information in a personally meaningful way that minimizes psychological distress and increases personal control. (Biesecker and Peters, p. 195)
Settings and Practice Goals
There are a variety of different settings for genetic counseling, including reproductive, pediatric/adult, and common disease clinics. Each one embodies a different set of aims. In the reproductive setting, the focus is primarily on decision making. Most often clients seen in a prenatal genetics clinic seek to understand their age-related risks for having a child with a chromosomal abnormality, such as Down syndrome. Increasingly they may also be seen in follow-up to an abnormal screening test that implicates higher chances for having a child with a birth defect or chromosomal disorder. These clients most often have no family history of the disorder (s) in question and are helped to understand what the conditions are, their likelihood for occurrence, and the options for managing or terminating the pregnancy. The goal is to promote client self-determination in exercising choice about the use of prenatal tests. Reproductive genetic counseling aims to deliver personalized genetic information to the client in a useful way; to explore the meaning of the information with the client in light of personal values and beliefs; to promote the clients' preferences for reproductive options with consideration of alternatives, consequences, and barriers; and to prepare the client for adapting to the outcomes of the choice (s) (Biesecker). When an abnormality is detected, there are few options for treating the condition and couples face painful decisions about whether or not to abort a desired pregnancy. Genetic counseling is particularly important when couples face such irreversible life-altering decisions.
In the pediatric and adult genetics setting, the goal is to facilitate client understanding and adaptation to a condition. In this setting clients often have a child or other relative who is affected with a genetic condition that they seek to better understand as part of their adaptation to (often unexpected) circumstances. Obtaining an accurate diagnosis of the condition by a medical geneticist is an essential component. Medical information provided to clients includes a description of the condition and its potential long-term consequences. The aims of genetic counseling in the pediatric or adult genetics setting are to discuss client understanding of cause as it relates to a scientific (genetic) explanation and the client's interpretation, to explore the role of personal beliefs in adaptation, and to promote feelings of personal control and mastery over the condition (Biesecker). Genetic counseling helps clients to cognitively integrate genetic information into their personal beliefs and frame of reference in a manner that is personally useful to them. Referrals are often made to support groups or to other parents with similarly affected children. School referrals for attention to special learning needs for the child may also be made. Parents often require a great deal of follow-up medical, educational, and support services for their child and themselves.
In the common disease setting, such as cancer genetics, cardiovascular genetics, or neurogenetics clinics, most often adults seek to understand their own risk for disease. The goal is to maintain the health of at-risk individuals. Specific aims are to increase accurate risk perception, to facilitate adaptation to genetic risk, to promote health-enhancing behaviors, and to prevent disease (Biesecker). Predictive genetic testing may be offered as part of the effort to refine risk more precisely and as a basis for making screening or prevention recommendations. Yet decisions about predictive testing are highly personal due to the lack of empirical evidence to guide practitioners in making medical recommendations based on test results. In many cases genetic testing offers risk estimates but little else. Clients' decisions about undergoing predictive testing often lie with the meaning the test result would have for adapting to living at risk. Increasingly such testing will also be used to manage risk by offering targeted interventions for those identified to be at increased genetic risk, but this is rarely the case.
Cancer genetics services have been established in response to the research and commercial availability of predictive testing for cancer risk. Tests have been developed for breast and ovarian cancer risk, colorectal cancer risk and for certain rare cancer syndromes. While medical recommendations are made for tested individuals found to be at increased risk, there remains a paucity of empirical evidence to support the majority of these recommendations. With time more precise risk estimations will be made using testing, targeted interventions will be known to be effective, and reduction in morbidity and mortality will be achieved. In the meantime, however, the imprecise nature of cancer genetics testing necessitates informed consent and emphasizes the importance of pre-test education and counseling in the common disease setting.
Genetic counseling is often described as non-directive, meaning that clients are helped to make personal decisions without undue influence by the counselor. This practice principle emerged from reproductive genetic counseling where couples face decisions about having children or continuing an affected pregnancy. It remains an important ethical principle for guiding clients through their reproductive choices. Clients are helped to make personally relevant and informed choices for themselves. Nonetheless nondirectiveness is difficult to achieve since counselors have personal and professional biases and experiences that may be inadvertently expressed in how information is presented or emphasized in genetic counseling. While counselors may not intend to guide client decisions, it is reasonable to assume that genetic counseling influences them. Yet the majority of clients are capable of making their own decisions and can benefit from prenatal counseling by exploring their own beliefs, attitudes, and values related to their ability to parent a child affected with a particular condition. Genetic counseling that is client-centered focuses on meeting the needs of clients by working within the context of their sociocultural beliefs and lived experience. Even if a genetic counselor explicitly expresses her own beliefs during reproductive counseling, it is unlikely that a client will simply adopt them. However there are situations where conflicts in promoting personal reproductive choice do exist.
When a prenatal genetic counselor is employed by a commercial laboratory or prenatal testing center, there is more likely to be a potential conflict of interest. If the testing center promotes prenatal tests rather than promoting the choice of testing, then the counseling may emphasize the benefits of testing over the risks. There might be more frequent assumptions on behalf of the counselor that if the client was referred for prenatal testing, that the client is going to undergo testing rather than insuring that each client makes an informed and personal decision whether or not to undergo optional prenatal tests. Further, if the counselor's salary depends upon a certain number of tests being conducted, there is likely to be an even greater chance for persuasive prenatal genetic counseling.
In genetic counseling settings other than reproductive, non-directiveness has little relevance. In the common disease setting, for instance, making screening recommendations to promote health intends to be directive. Applying the notion of non-directiveness to genetic counseling in general has lead to a great deal of confusion in the literature (Kessler). In addition to directive health-related recommendations, communication in genetic counseling is often directive. Offering advice or making referrals may be also be construed as directive. The adoption of non-directiveness as a central tenet of genetic counseling has limited the use of (directive) therapeutic interventions that may be helpful to clients. Genetic counseling may be practiced in a more hesitant manner if counselors fear directing their clients' decisions when fully engaging with them may be more productive. Issues related to non-directiveness continue to be actively debated in the professional literature.
Interpretation and use of genetic information by clients depends somewhat on their personality traits and characteristics. Clients come from a variety of sociodemographic and ethnocultural backgrounds that shape their beliefs, values, and available resources. Clients also may belong to affected families who have experience with a condition under discussion. Others may not have had experience with it. These variables shape client needs, attitudes, and priorities. Genetic counseling necessitates assessment of these variables in order to tailor the information and counseling to meet client needs. A couple with two children affected with cystic fibrosis that faces a decision about prenatal testing with a subsequent pregnancy is expert on the disorder and its impact on the family. A couple who is found to be at increased risk for having a child with cystic fibrosis based on carrier screening with no family history of the condition may have little idea of what having an affected child may mean for the child or themselves. Genetic counseling would differ in meeting the needs of these clients, even though at face value, each involves a fetus at 25 percent risk for being affected with the same condition, cystic fibrosis.
Since genetic conditions affect families, there may also be differences in how relatives view or use genetic information. Genetic counselors working with various family members have obligations to protect the privacy of individual clients and to support different decisions made within the same family. The offer to undergo predictive genetic testing, for instance, may result in some individuals who are interested and others who are not. Yet test results for one relative may reveal the at-risk status of another. So protecting personal testing decisions within families can be challenging. Genetic counseling aims to help relatives anticipate such consequences prior to undergoing testing. Rarely family members may choose not to reveal risk of a genetic condition to relatives. In this circumstance, genetic counselors may be persuasive in encouraging clients to notify their relatives so that each at-risk person may be informed and equipped to make his or her own decision about whether or not to undergo genetic testing. There is debate about the duty of genetics providers to warn at-risk relatives in situations where family members choose otherwise.
As more genetic discoveries emerge and genetics medicine moves into an era in which diagnoses are refined by genetic information, more tests are developed, and treatments tailored, all healthcare providers will need to understand some aspects of medical genetics. Nurses, primary care physicians, and even social workers and psychologists will be faced with helping clients to make decisions about using new genetic technologies. This sea change suggests a significant need for professional genetics education to prepare a variety of healthcare providers to care for clients in the future. Genetic counselors are important providers for helping to train others. In the meantime, it is important that clients who encounter new genetic technologies have access to appropriately trained and certified genetics providers. As genetic testing is increasingly utilized as a tool for medical management and not merely as a means to obtain risk information, there is likely to be less psychological turmoil for clients in making decisions about undergoing testing. However carrier testing or pre-symptomatic testing for serious, late-onset disorders without medical treatment will continue to elicit strong thoughts and feelings from clients. Certain genetic testing will continue to need to be accompanied by psychoeducational genetic counseling provided by well-trained clinicians to facilitate personal decision making. As the number and background of professionals involved in genetic testing expands, there is a greater potential threat to well-informed decision making. The maintenance of a high training and practice standard for genetic counseling is a priority in anticipating some of the consequences of the diffusion and proliferation of genetic testing.
Genetic counseling has evolved rapidly in its short history from the reproductive arena to pediatric and adult genetics clinics and more recently into common disease clinics. With this expansion, its goals have become more diverse and specific to the setting. As genetics medicine further emerges and new genetic tests are introduced, promoting informed choice about use of genetic tests will continue to necessitate pre-test genetic education and counseling. Ethical controversies related to duty to warn relatives, risks to the confidentiality of genetic information, and conflicts of interest related to commercial incentives for testing will expand and policies and even legislative protections will emerge.
barbara bowles biesecker (1995)
revised by author
SEE ALSO: Autonomy; Beneficence; Confidentiality; Eugenics; Family and Family Medicine; Genetic Counseling, Ethical Issues in; Genetic Discrimination; Genetic Testing and Screening; Professional-Patient Relationship
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