Introduction
Genetic counselling is defined as the information, guidance, and support provided by a genetic counsellor or medical geneticist to an individual, a couple, or a family about a genetic condition. The information may help the client (affected individual or family) understand how a gene variant underlies an observed phenotype, disease prognosis, and the probability of transmission to progeny. Apart from information to help the client make informed decisions about lifestyle, treatment, and reproduction, a counsellor provides psychosocial support to minimize the adverse psychological, intrafamilial, and social consequences of genetic testing. Therefore, genetic counselling has an educational as well as a counselling component. However, the field of genetic counselling does not have a generally accepted theoretical basis. Genetic counselling techniques have drawn their theoretical underpinnings from psychology and incorporate elements of psychotherapy, such as empathic listening, advice to help patients manage and live with illness, and emotional support to help them cope with the fear and/or grief associated with illness. However, it cannot be termed psychotherapy. Among the various psychological theories that have been applied to genetic counselling are the client-centered approach, communication theory, family systems theory, stress theory, and the biopsychosocial medicine approach.1 All of these models underline the importance of dialogue and the nurturing of a counsellor-client relationship for counselling success.
Thus far, genetic counselling has been primarily concerned with Mendelian disorders. These are diagnosed using biochemical tests for enzyme function, cytogenetic tests, or hybridization or sequencing of specific genes.2 However, with the advent of whole genome and exome sequencing, and other methods for high-throughput analysis, data interpretation has become complicated. Often, deriving conclusive interpretations from genomic data is not possible. For individuals hoping to find conclusive answers for their undiagnosed medical conditions, this uncertainty can exacerbate mental stress. Recently, Newson et al. recently attempted to define a conceptual framework to address the issue of genomic uncertainty.3 Genomic uncertainty may either affect the clinical diagnosis or prognosis, and/or disease management. They cite three examples to illustrate the problem of genomic uncertainty and how it may arise.3 In the first example, a 39-year-old female, who is healthy but has a family history of breast cancer, undergoes panel testing for BRCA1/BRCA2, and another 20 cancer-related genes. The sequencing results show no mutations in BRCA1/BRCA2, but mutations in a gene known to cause stomach cancer, although there is no family history for the latter condition. The client can opt for preventative surgery involving the removal of large sections of her stomach. However, in the absence of a family history, her prognosis is uncertain. Newson et al. use a second case to exemplify uncertainty arising from inadequate information.3 Here, a young primigravid woman is 21 weeks pregnant, but her ultrasound shows certain anomalies. Prenatal chromosomal microarray analysis reveals a novel de novo 400 kb microdeletion encompassing four genes. However, the biological significance of this deletion is unclear; none of the four genes is associated with disease. In this case, inadequate information about gene function and the potential consequences of gene deletion creates uncertainty. Newson et al. present a third case wherein a 47-year-old man has suffered from two episodes of hereditary nonpolyposis colorectal cancer (HNPCC), but array-based analysis of genes associated with HNPCC does not reveal any mutations.3 In this instance, the uncertainty is a result of biological complexity—a number of factors, such as the environment or epigenetic effects, could have played a role in disease onset.
In a subsequent section, the case of the 29-year-old pregnant female described above will be used to elucidate how counselling theories and communication skills can help prepare clients to deal with genomic uncertainty.
Evaluation 1
For long, genetic counselling was focused on providing information to clients about their clinical condition. Communication was a one-way process and not a dialogue, with little attempt to explore the client’s perspective. In 1979, Seymour Kessler, described genetic counselling as “an interaction with psychotherapeutic potential”.4,5 This paradigm shift resulted in the application of theories drawn from psychology to genetic counselling. Joan Marks first advocated that a client-centered model was most-suited for addressing psychosocial issues in genetic counselling.6 This model is non-directive, emphasizes an unconditional positive regard for the client regardless of his/her cultural background and encourages the creation of an environment where the client can explore his/her thoughts and feelings and take independent decisions. Using this approach can help the counsellor understand the strengths, weaknesses, and concerns of the client. It may also help foster a strong personal bond between the client and the counsellor. However, this method may not entirely work for clients with learning disabilities. Moreover, a strictly non-directive approach may not always be desirable, as for example, when the client has habits or a lifestyle that exacerbate his medical condition. Another drawback of this approach is its non-structured nature, which means that its effectiveness may vary depending on its implementation and the counsellor involved.
The communication theory-based approach scores in being able to provide a structured framework for the communication of genetic information and for taking medical decisions after a careful and even statistical evaluation of the risks involved. However, this approach may not be fully implementable in all circumstances because of the lack of medical information.7 Another characteristic is the shared approach to decision making (requires mutual agreement between the counsellor and the client), which contravenes the spirit of non-directiveness and client autonomy.
The application of family systems theory for the counselling of heritable disorders appears particularly appropriate. The family is the most appropriate unit for considering questions about disease transmission and reproduction. This theory emphasizes the family as a whole to address individual and intrafamilial concerns about genetic disorders.8 Management or treatment of a condition or changes in lifestyle may require an understanding of intrafamilial dynamics and the socio-cultural background of the family in question. Solutions proposed in the context of the family are likely to be more effectively implemented. A disadvantage of this approach is its neutral, non-directive nature that precludes any intervention in instances where harmful behaviours or habits are observed.
McConkie-Rosell and Sullivan argued that the diagnosis of a genetic disorder is a stressful event in which an individual or family must absorb a lot of new genetic or biological information and may need to make lifestyle changes to cope with the condition.9 Therefore, applying the principles of the theory of stress and coping is highly appropriate with both personal and environmental variables that cause stress taken into account. This framework may help to systematically assess the response of the client to previously unknown genetic information taking into account the presence of other stressors in the client’s life. A notable advantage is that it takes individual differences into account while devising mechanisms for coping with stress. It can help the client acquire new coping skills. Given the chronic nature of most genetic conditions, effective problem-solving methods for coping may be difficult to employ. Some clients may employ coping strategies that involve substance or alcohol abuse making effective counselling extremely difficult.
The biopsychosocial medicine model is holistic in its approach and provides the most comprehensive view by placing the patient with his or her medical condition in the backdrop of his overall physical and mental health, and takes into account behavioural and social factors.1,10,11 It has been widely applied to psychiatry because its framework allows one to reconcile both biological and psychodynamic theories about the origins of mental illness. A common criticism of the biopsychosocial model also relevant to genetic counselling is that given its broad swathe, counsellors run the risk of practising outside of their domains of expertise.12 A more general criticism of such a comprehensive system would be the demands it places on the healthcare system in terms of resources and time.
Evaluation 2
Genomic uncertainty can stem from prognostic uncertainty, diagnostic uncertainty, or biological complexity. It can also stem from predetermined views of the client about likely test outcomes, how he/she processes the test results, and his/her understanding of the results in the backdrop of personal beliefs and value systems.13,14 The client’s ability to absorb clinical information and make rational choices may vary depending on his/her educational and socio-cultural background. Eliciting the client’s thoughts about genetic testing and test results can help the counsellor to address knowledge gaps.
Genetic counselling in the face of uncertainty is a challenge. Genetic testing is often sought to reduce uncertainty.3 Attitudes to genomic uncertainty have been found to vary depending on individual attributes. Some may respond with resilience whereas others become disappointed or anxious, and may seek to engage their personal physician or demand referrals to specialists. Diagnostic and prognostic uncertainty is a major psychological stressor for parents of children with disabilities.15 Genomic uncertainty adversely affects the stated goals of genetic counselling, namely informed decision making, disease management, and adaptation. In such a scenario, the counsellor can do best by ensuring that the client has a clear understanding of the clinical information and undertaking interventions that foster client adaptation.
In the case of the young pregnant female discussed above, the results of genomic testing create an ethical dilemma for the clinicians as well as the client. Given that she is 21 weeks into her pregnancy, a decision about medically terminating her pregnancy may have to be made soon. The client and her partner may experience confusion, extreme anxiety, and distress after the test. The clinicians themselves may be troubled by their own moral responsibility in an unwarranted medical termination of pregnancy. They may find the alternative, involving the future management of a potentially serious medical condition in the developing foetus, equally troubling. Researchers suggest that genetic counsellors practice non-directive counselling while providing full information to the client under all circumstances.10 This would allow for client autonomy and allow her to make an informed choice. Studies have also emphasized the importance of pre-test genetic counselling to inform the client about the uncertainties associated with the genomic testing. This would prepare the client for testing results that are of uncertain significance, promote post-test resilience, and reduce distress. Both pre- and post-test counselling should involve the spouse and immediate family of the client. This would enable the counsellor to understand her socio-economic circumstances and offer support to the client in the interests of the woman’s autonomy should there be intrafamilial disagreements over medical decisions. The counsellor could also initiate discussions involving the members of the family to mediate conflicts in decision making. The client can also be offered follow-up imaging to assist in decision making.
Overall, genomic uncertainty reinforces the importance of the psychosocial aspects of genetic counselling. Effective communication becomes even more critical to ensure that the client has a clear understanding of the results and their implications in terms of genetic risk.
Discussion
The family systems theory appears most appropriate for counselling the pregnant client and her family (discussed above). However, the counsellor could try to ensure that while addressing the concerns of the family members, the client’s reproductive autonomy is not compromised. Numerous studies emphasize the importance of both pre- and post-test counselling.3,14 Pre-test counselling could be used to educate the client and her family about the knowledge gaps in medical science and the sources of uncertainty in genomic tests. These pre-test sessions could help establish a trust bond between the counsellor and the clients, and help the counsellor to effectively communicate the test results and related uncertainties.
Conclusion
The family systems approach may be well suited to counselling to support prenatal genomic testing. Uncertainty should be considered as unavoidable in the genomics testing process rather than as something undesirable. This would entail introducing the client(s) to the concept of uncertainty in the pre-testing stages. Pre-test counselling would foster resilience and adaptation. Depending on assessment of genetic risk, uncertainty may also be used to foster hope.
The family systems framework may not be appropriate to every scenario. The genetic counsellor may need to adopt or combine different approaches depending on the requirements of the case and his/her own skills and experience to facilitate the adaptation of the client to uncertainty.
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