Autonomy and Nondirectiveness: a Progressive Lens of the Central Ethos

By Maithili Patel

Genetic counseling helps individuals and families understand the medical, psychological, and familial implications of genetic contributions to disease. It aims to empower patients with genetic information to make autonomous decisions that align with their values. The genetic counselor’s goal is to be objective, maintain neutrality, present all sides, and allow the patient’s values to determine the outcome. Several modifications to the genetic counseling practice over the years led to the establishment of a non-directive model as the central ethos of the profession, which has been followed by genetic counselors over the past 30 years and at present. [1]

But why did genetic counseling adopt the nondirective counseling model? The answer lies in our history, particularly the dark history of eugenics, but also in changing social and political values. Eugenics was the idea of utilizing genetic technology for “racial improvement” and “planned breeding.” It was a movement that aimed to improve the genetic composition of the human population through selective breeding and forced sterilization. The legacy of eugenics, particularly it’s prominence in the Nazi regime’s rationalization for the atrocities committed against Jewish people and other minorities during World War 2, is one of the main influences on the nondirective model of genetic counseling.[2] To avoid repeating the practice of eugenics, post-World War 2 attempts were made to distance the use of medical genetics from eugenics and its discriminatory practices. The use of medical genetics was considered to be “good eugenics” that aimed to help families avoid unnecessary suffering and eliminate deleterious genetic conditions. This approach was more paternalistic, with medical professionals making decisions on behalf of patients. However, with the second wave of feminism in the 1970s, women championed their autonomy to make medical decisions regarding their reproductive health and pregnancies. This further influenced the profession of genetic counseling, leading to the transition from paternalism to a model that heavily values patient care aligned with patients’ needs, lifestyles, and ideologies.[3] As a result, the nondirective model of genetic counseling gained traction as the central ethos of genetic counseling. 

Nondirective genetic counseling emphasizes the autonomy of the patient and aims to provide accurate and understandable information about genetic risks and options. The counselor does not promote a particular course of action but instead supports the patient in making their own informed decision based on their unique circumstances and values. Nondirectiveness in genetic counseling aims to respect the diverse values and goals of the patient, which could be different from the counselor’s values. Nondirectiveness thus aligns with the pillars of medical ethics, beneficence and nonmaleficence. Beneficence implies that genetic counselors should use professional judgment and evidence-based knowledge to provide information and support to guide the patient to make their autonomous decision aligned with their individual circumstances. Non-maleficence implies that genetic counselors provide comprehensive information to patients without exerting influence over patients’ decisions.[4] These are the principles that guide the patient-genetic counselor relationship, ensuring that the genetic counseling session upholds the autonomy of the patients.

With the ever-growing field of genetic counseling, autonomy remains of utmost importance. However, does the promotion of autonomy require a nondirective approach? Today, genetic counselors are taking on diverse roles across various clinical and non-clinical settings and genetic findings are becoming more actionable.  They are asked to assess health risks and facilitate decision-making in a variety of medical subspecialties, including genome-guided medical management that can impact disease morbidity and mortality. For example, the results depicting variants of unknown significance may lead to complex decision-making, not only for patients but also for healthcare providers. A study by Jamal et al discussing the role of autonomy in the genomic era mentions that in such situations, a genetic counselor could utilize their advanced understanding and suggest an evidence-based course of treatment or management. The author argues that although individual autonomy remains of utmost importance to genetic counselors, it should not restrict counselors to opt for a more explicit counseling method when needed.[4]

Furthermore, the nondirective counseling approach, derived from the Western history of eugenics, may not meet the need for cross-cultural genetic counseling and the growing need for genetic counseling all over the world. For example, many cultures value direct medical orders and providers’ recommendations. A systematic review conducted regarding genetic testing and counseling for Asian Americans found five studies reporting cultural differences regarding expectations of patient-provider communication.[5] One of the studies on Korean American women found that they were uncomfortable with the nondirective counseling approach. Another study showed concerns regarding patients finding the discussion vague as they valued answering questions in a clear and direct manner more useful than the genetic counselor trying to be indirect and explaining the context.[6]

Although nondirectiveness respects patient autonomy and complies with the ethical practice of clinical genetics, it might not be adaptable to all cultural contexts. Some studies highlight concerns regarding poor counselor-patient bonds due to cultural differences, as cultural gaps may hinder the patient’s ability to be empowered by genetic information and make healthcare choices. This could lead to patients relying on individuals less knowledgeable than the provider such as family members or immigration sponsors.[5] It is important to consider that many encounters with genetic counselors occur during stressful medical situations where patients are making complex medical decisions and that this can further exacerbate the effect of cultural gaps. Another issue at play is how nondirectiveness may minimize the exploration of family dynamics that may be important considerations for a patient during decision-making. In some cultures, the patient does not wish to be the sole decision-maker, but may comply with the wishes of other family members. It is important to recognize that not all patients abide by a central belief in individual autonomy. Instead, a patient’s identity, needs, and interests are often shaped by their relationship to others. Newer conceptions of relational autonomy and strategies aimed to explore family and cultural dynamics may be needed where simple nondirectiveness may fall short.

The non-directive model of genetic counseling has been the cornerstone of the genetic counseling practice for many years, as it emphasizes patient autonomy and empowerment. However, with the advent of new technologies, the increasing complexity of genetic information, and the diversification of the patient population, there may be a growing need for more explicit counseling methods that take into account cultural differences and the nuances of patient decision-making.[4]

While the promotion of patient autonomy remains the utmost priority for genetic counseling, genetic counselors may need to be flexible in terms of their counseling approach to better adapt to the needs and values of each patient. This could mean adopting a more directive approach in some cases, while still prioritizing patient autonomy and informed decision-making. The debate revolves around whether the promotion of patient autonomy requires a nondirective approach. Ultimately, the overarching goal of genetic counseling remains constant: to empower patients to make informed decisions about their healthcare that align with their unique values and circumstances.