Managing Uncertainty in Genomic Counselling: Assignment Sample

Introduction: Understanding Uncertainty in Genomic Counselling

Genomic counselling is an evolving field in molecular biology that inherently involves working with uncertainty due to the complexities and variabilities of genetic information. According to Metcalfe (2018), genomic counselling is a long and complex procedure, which consists of the process of learning and understanding the relevant aspects of genetics like personal and familial genetic knowledge of an individual. In 1975, the American Society of Human Genetics Ad hoc Subcommittee on Genetic Counselling described that genetic counselling is a communication process which deals with human problems related to the occurrence the risk of occurrence, and the degree of occurrence of any genetic disorder in the family (Institute of Medicine (US) Committee on Assessing Genetic Risks, 2019). This process involves an attempt by one or more appropriately trained person to help an individual or family to (1) comprehend the medical facts, including diagnosis, probable courses of the disorder, and available management; (2) appreciate the way heredity contributes to the disorder, and risk re recurrence of specified relatives, and (3) understand the alternatives to deal with the risk of recurrence.

According to Burke et al. (2022), uncertainty in genomic counselling can stem from factors like variant interpretation, probabilistic risk assessment, and the psychological impact of ambiguous outcomes for the patient. Therefore, the purpose of this essay is to critically evaluate how counselling theories and skills can accommodate uncertainty and ensure effective patient support and informed decision-making. The discussion will explore the key counselling theories, including the Pearson-Centred Approach, Cognitive Behavioural Therapy and Egan’s skilled helper model analysing how the principle can help in managing uncertainty. This essay will also consider practical counselling skills like active listening skills, reframing skills, and shared decision-making skills to illustrate the role of Genetic Counselling in fostering patient resilience and adaptive coping. This essay will also consider how individual characteristics, like tolerance for uncertainty among the clients, can influence their experience during counselling sessions. Understanding these factors allows counsellors to adapt their methods accordingly which may promote a more supportive environment for the clients to face uncertain outcomes. Therefore, this essay aims to provide a comprehensive overview of the interplay between uncertainty and genomic counselling by integrating theoretical insight with practical examples.

Evaluation 1:

Critical evaluation of the counselling theories in genomic counselling

According to Kim et al. (2023), genomic counselling needs effective communication which can help a patient to navigate the inherent uncertainty of genetic information. There are several counselling theories including the Person-Centred Approach or PCA, Cognitive-Behavioural Therapy or CBT, and Narrative therapy which contribute significantly to the understanding and oractices of communication in the Genomic Counselling field. While these theories enhance patient-centred communication and coping mechanisms, these theories have notable limitations when applied to genomic counselling.

Person-Centred Approach or PCA:

 This theory was developed and first proposed by Carl Rogers, which used to play an important role in enhancing communication skills within therapeutic settings. In genomic counselling, a person-centred approach or PCA is used to foster a supportive environment where the patient can feel heard and validated, which in turn is considered important for managing the stress of uncertain genetic findings (Yao & Kabir, 2023). On the other hand, Kwame & Petrucka, (2021) stated that by prioritising the patient; 's emotional experiences, this specific theory can enhance trust and engagement, and can allow for more effective shared decision-making. Furthermore, this approach also aligns with the ethical principles of autonomy and informed consent which are critical in genomic counselling.

However, one of the significant limitations of PCA is its non-directive nature, which can lead to a lack of structure in session. While non-directiveness is a core principle in genomic counselling, some of the patients prefer more structured guidance rather than solely emotional support (Chańska & Grunt-Mejer, 2022). Additionally, while PCA focuses on the individual’s experiences in the therapeutic field, it overlooks the systematic factors which can influence the client’s situation. For example, the cultural and relational dynamics are considered to be important for understanding the client’s challenge but may not be adequate to address within the strictly person-centred framework. According to Jolliffe & Cadima, (2016), PCA may not fully address the cognitive aspect of uncertainty management, including processing risk probabilities or making complex healthcare decisions. This gap necessitates the integration of more directive approaches like CBT.

Cognitive-Behavioural Therapy (CBT):

CBT focuses on identifying and restructuring maladaptive thoughts and behaviours to improve coping with uncertainty (Curtiss et al., 2021). In genomic counselling, Cognitive Behavioural Therapy techniques such as cognitive reframing and stress reduction strategies help patients to manage anxiety, in relation to the uncertain genetic findings (Nakao et al., 2021). For example, CBT has been effective in reducing catastrophising tendencies when a patient receives inconclusive outcomes, improving their ability to make informed choices. According to Curtiss et al., (2021), CBT or Cognitive Behavioural Therapy is used in genetic counselling to help individuals manage the emotional distress and complex decision-making processes associated with receiving genetic information by addressing the negative thoughts, and behaviour related to the genetic risk. Aliouche, (2022) has stated that genomic or genetic counselling involves helping people or individuals to understand and adapt to the medical, psychological, and familial implications of genetic conditions. While traditional genetic counselling focuses on providing medical information and emotional support, integrating CBT can address emotional distress and can promote behavioural changes which are relevant to the medical outcomes. By incorporating CBT techniques, a genetic counsellor can offer a more comprehensive approach to supporting clients through the complexities of genetic information and its implications.

Despite the strengths, cognitive behavioural therapy or CBT has several limitations in genomic counselling. Firstly, this approach overly pathologises the normal responses to uncertainty by focusing on maladaptive thoughts rather than accepting uncertainty as a natural part of the processes (Nakao et al., 2021). Additionally, CBT or Cognitive Behavioural Therapy is a structured approach which may not fully accommodate the personal and existential concerns that some patients experience while facing genetic risks. This limitation highlights the need to adopt narrative-based approaches.

Managing Uncertainty in Genomic Counselling through Egan’s Skilled Helper Model:

Genomic counselling inherently involves uncertainty due to variable test results, evolving scientific knowledge, and unpredictable patient responses. Egan’s Skilled helper model, a structured three-stage approach to counselling can provide a valuable framework for managing uncertainty effectively.

Stage 1: exploring the current scenario: in genomic counselling, the patient often faces emotional distress, anxiety, and confusion when presented with genetic findings. In this stage, the counsellor can actively listen to the patient, and emphasise and clarify the patient's concern. By using open-ended questions and reflective listening, the counsellor can help the patient to articulate their feeling about uncertainty and their understanding of genetic risk (Ertelt et al., 2022).

Stage 2: once concerns are explored the next step involves identifying the goals and priorities. Patients may struggle with deciding whether to undergo further testing, disclose genetic risks to the family, or make lifestyle changes. The counsellor helps the patient reframe uncertainty into manageable challenges, fostering a sense of control and informed decision-making.

Stage 3: this stage is known as the implementation strategy where it focuses on the actionable step for managing the uncertainty related to genomic counselling. At this stage, the counsellor may support the patient to develop coping strategies explore support networks, and make informed decisions and choices (Edwards & Laing, N. (2022). By reinforcing self-efficacy and resilience, patients can navigate genomic uncertainty with confidence.

Therefore, it can be stated that, while the Person-centred approach, cognitive-behavioural therapy and Narrative therapy contribute to improving communication in genomic counselling, their limitation highlights the need for an integrative approach. PCA is used to foster the empathetic dialogue, but it may lack directive guidance, whereas CBT enhances coping but is used to over-medicalise the uncertainty, and narrative therapy is used to support meaning-making but may be less effective for those needing structured decision-making support. On the other hand, by applying Egan’s helper Model, genomic counsellors can guide patients through uncertainty, enabling them to make informed, decisions regarding their genetic health. Future researchers need to explore ways to combine PCA with other modalities to enhance communication practices while accommodating the complexities of individual experiences in therapy.

Evaluation 2:

Genomic counselling is inherently intertwined with uncertainty due to the evolving nature of genetic science, probabilistic risk assessment and the unpredictable manifestation of genetic conditions etc conditions. Patients often receive ambiguous outcomes, such as variants of uncertain significance or VUS, or many struggles with the psychological burden of knowing they carry a genetic predisposition without definitive knowledge of disease onset (Metcalfe, 2018). This uncertainty extends beyond the individual to family members who may also be impacted by genetic findings. Effective genomic counselling needs a combination of theoretical frameworks and communication skills, to help the patient and their families navigate the complexities while maintaining emotional well-being and informed decision-making. In this discussion, different theories and therapeutic approaches have been used to critically evaluate the way counselling therapies and skills can be used to accommodate the uncertainty in the genomic counselling process. One such theory is person-centred therapy or approach which was developed by Carl Rogers, a fundamental approach to genomic counselling. Upon analysing the key concept of this approach, it was seen that this theory can accommodate uncertainty by fostering a supportive, non-directive environment (Yao & Kabir, 2023). Through active listening and empathic behaviour, a counsellor can help patients in the process without pressing them to a specific decision. This approach acknowledges that the patient must come to terms with uncertainty at their own pace and in a way that aligns with their values. Cognitive-behavioural therapy or CBT can also be integrated to address the anxiety and distress related to uncertain test results (Curtiss et al., 2021). By identifying cognitive distortions, like catastrophic thinking about the potential disease outcome, a counsellor can help patients develop more adaptive coping strategies and maintain psychological resilience.

On the other hand, Egan’s Skilled Helper Model offers a structured approach to managing the uncertainty in genomic counselling. This model developed by Gerard Egan provides a goal-oriented framework which can help an individual to process the uncertainty, gain clarity and take proactive steps towards an informed decision (Riggall, 2016). In genomic counselling, patients may internalise genetic uncertainty as a personal burden and feel overwhelmed by their predisposition to a genetic condition. Stage 1 of this Egan’s Skilled Helper Model, can allow the counsellor to provide emotional and psychological support, helping the patient to articulate the concern about genetic risk (Ertelt et al., 2022). Through active listening and empathy, counsellors can validate the patient's experiences and normalise uncertainty. Stage 2 of this model allows the counsellor to assist the patient in reframing their perspective, moving away from genetic determinism towards a more empowered outlook. Instead of viewing genetic risk as an inevitable fate, the counsellor can help the patient explore their values, goals, and available choices fostering a sense of control over their situation. Stage 3, developing strategies and taking action supports patients in making informed lifestyle and medical decisions to mitigate risks. This proactive approach ensures that patients do not remain passive in uncertainty but instead adopt practical coping strategies, engage in preventive healthcare, and access support network.

Effective genomic counselling relies on key communication skills to navigate the uncertainty. Risk communication is essential as counsellors must translate complex probabilities into lay-friendly languages while avoiding unnecessary alarms or any false assurance (Institute of Medicine (US) Committee on Assessing Genetic Risks et al., 2019). Decision-making support is another critical skill which can help patients weigh the potential benefits and drawbacks of testing and future healthcare choices. Additionally, emotional regulation techniques like mindfulness and distress tolerance strategies assist patients in managing the anxiety linked to ambiguous or inconclusive outcomes. Ethical sensitivity is equally important for genomic counselling, as it can address the concerns surrounding genetic privacy, potential discrimination and reproductive choices.

As a whole, genomic counselling needs a multifaceted approach to manage its uncertainty, combining theoretical counselling models with practical communication skills. By integrating Egan’s Skilled Helper Model alongside PCT, and CBT, a genomic counsellor can create a supportive environment for promoting adaptive coping strategies and facilitate informed decision-making.

Discussion

Upon analysing evaluations 1 and II, it can be stated that genomic counselling can be characterised by inherent uncertainties, like ambiguous test results and the psychological impact of a genetic predisposition which can affect not only the individual but also their wider family. The person-centred approach or PCA fosters empathetic dialogue and emotional validation, allowing the patient to process uncertainty in a supportive, and non-directive environment (Kwame & Petrucka, 2021). However, its lack of structured guidance may not always meet the needs of individuals seeking more informed and directive decisions and support. In this evaluation, the focus has also been given to cognitive behavioural therapy which addresses emotional distress and maladaptive thinking patterns, which can help patients to develop resilience when faced with ambiguous genetic information. On the other hand, Egan Skilled Helper Model provides an alternative approach by allowing the patient to reframe their genetic uncertainty as a part of their broader life story, promoting empowerment and resilience (Riggall, 2016).

An integrative strategy that incorporates aspects of PCA, CBT, and narrative therapy is necessary to handle the complexity of uncertainty in genetic counselling. CBT offers organised coping mechanisms for handling discomfort, PCA makes sure that the patient's emotional needs are satisfied, and Egan’s Skilled Helper Model gives patients agency by assisting them in creating compelling stories about their hereditary risk. The genomic counselling process is further improved by effective communication abilities, such as risk communication, decision-making assistance, and ethical sensitivity. Genomic counsellors may develop a well-rounded, patient-centred strategy that not only accepts uncertainty but also gives people and families the resources they need to deal with it confidently and resiliently by combining these theories and abilities.

Conclusion

To conclude this essay, it can be stated that, the genomic counselling process is inherently fraught with uncertainty and it has ramifications for patients and their families due to its ambiguous features. Counselling theories that offer useful frameworks for dealing with this ambiguity include the Person-Centred Approach (PCA), Cognitive-Behavioral Therapy (CBT), and Narrative Therapy. In this essay, those counselling theories are being discussed thoroughly where it has been stated that every theory has some benefits and disadvantages, which can accommodate the uncertainty risk of genomic counselling. However, to conclude this essay, it can also be stated that an integrative approach that combines these theories and effective communication can effectively accommodate the uncertainties of genomic counselling. By combining the strengths of each framework—empathy from PCA, coping strategies from CBT, and meaning-making from Egan’s Skilled Helper Model—counsellors can help individuals and families navigate the complexities of genomic information while maintaining emotional well-being and making informed decisions.

Transform your grades with professional Assignment Help Online! Our team of subject experts delivers meticulously written assignments that meet university standards and exceed your expectations every time.

References

• Aliouche, H. (2022, January 19). The Importance of Genetic Counseling In Healthcare And Medicine. News-Medical.net. https://www.news-medical.net/health/The-Importance-of-Genetic-Counseling-In-Healthcare-And-Medicine.aspx
• Burke, W., Parens, E., Chung, W. K., Berger, S. M., & Appelbaum, P. S. (2022). The Challenge of Genetic Variants of Uncertain Clinical Significance. Annals of Internal Medicine. https://doi.org/10.7326/m21-4109
• Chańska, W., & Grunt-Mejer, K. (2022). The Directiveness that Dare Not Speak Its Name. Views and Attitudes of Polish Clinical Geneticists toward the Nondirectiveness Principle. Journal of Bioethical Inquiry, 19(4), 557–569. https://doi.org/10.1007/s11673-022-10202-x
• Curtiss, J. E., Levine, D. S., Ander, I., & Baker, A. W. (2021). Cognitive-behavioral Treatments for Anxiety and stress-related Disorders. Focus, 19(2), 184–189. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8475916/
• Do, T. T., Martyn, M., McClaren, B., McEwen, A., & Gaff, C. (2024). Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed. European Journal of Human Genetics, 1-9.https://www.nature.com/articles/s41431-024-01686-9
• Edwards, S., & Laing, N. (2022). Genetic counselling needs for reproductive genetic carrier screening: a scoping review. Journal of Personalized Medicine, 12(10), 1699.https://www.mdpi.com/2075-4426/12/10/1699
• Ertelt, B. J., Schulz, W. E., & Frey, A. (2022). Egan’s Model of Problem-Management. In Counsellor Competencies: Developing Counselling Skills for Education, Career and Occupation (pp. 59-109). Cham: Springer International Publishing.https://link.springer.com/chapter/10.1007/978-3-030-87413-1_3
• Institute of Medicine (US) Committee on Assessing Genetic Risks, Andrews, L. B., Fullarton, J. E., Holtzman, N. A., & Motulsky, A. G. (2019). Issues in Genetic Counseling. Nih.gov; National Academies Press (US). https://www.ncbi.nlm.nih.gov/books/NBK236049/
• Jolliffe, I. T., & Cadima, J. (2016). Principal component analysis: a review and recent developments. Philosophical Transactions of the Royal Society A: Mathematical, Physical and Engineering Sciences, 374(2065), 20150202. https://doi.org/10.1098/rsta.2015.0202
• Kim, S. J., Pistawka, C. A., Langlois, S., Osiovich, H., Virani, A., Kitchin, V., & Elliott, A. M. (2023). Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review. Clinical Genetics, 105(1), 13–33. https://doi.org/10.1111/cge.14446
• Kwame, A., & Petrucka, P. (2021). A literature-based Study of patient-centered Care and Communication in nurse-patient interactions: Barriers, facilitators, and the Way Forward. BMC Nursing, 20(158), 1–10. https://doi.org/10.1186/s12912-021-00684-2
• MacLeod, R., Metcalfe, A., & Ferrer‐Duch, M. (2021). A family systems approach to genetic counseling: Development of narrative interventions. Journal of Genetic Counseling, 30(1). https://doi.org/10.1002/jgc4.1377
• Mellado, A., Teresa, Andreucci-Annunziata, P., & María Elisa Molina. (2024). Psychotherapy focusing on dialogical and narrative perspectives: a systematic review from qualitative and mixed-methods studies. Frontiers in Psychology, 15. https://doi.org/10.3389/fpsyg.2024.1308131
• Metcalfe, S. A. (2018, April). Genetic counselling, patient education, and informed decision-making in the genomic era. In Seminars in Fetal and Neonatal Medicine (Vol. 23, No. 2, pp. 142-149). WB Saunders.https://www.sciencedirect.com/science/article/pii/S1744165X17301415
• Nakao, M., Shirotsuki, K., & Sugaya, N. (2021). Cognitive–behavioral therapy for management of mental health and stress-related disorders: Recent advances in techniques and technologies. BioPsychoSocial Medicine, 15(1), 1–4. https://doi.org/10.1186/s13030-021-00219-w
• Riggall, S. (2016). The sustainability of Egan’s Skilled Helper Model in students’ social work practice. Journal of Social Work Practice, 30(1), 81-93.https://www.tandfonline.com/doi/abs/10.1080/02650533.2015.1082465
• Yao, L., & Kabir, R. (2023, February 9). Person-Centered Therapy (Rogerian therapy). PubMed; StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK589708/