GENETIC COUNSELING

What is Genetic Counselling?

Some people have, or are at risk of having, a hereditary condition. The support provided for these individuals and families is termed ‘genetic counselling’.

Genetic counselling is both an activity and a profession.

The Activity of Genetic Counselling Includes:

• Interpreting Family and Medical Histories
  • Assessing the chance that individuals may be affected with, or at risk of, a genetic disorder.
• Providing Information
  • Explaining inheritance, genetic testing, risk management, research, and other helpful resources.
• Counselling for Empowerment
  • Helping people faced with a hereditary condition to understand and make sense of their family history.
• Support and Adjustment
  • Providing support and assistance in adjusting to genetic test results and living with the risk of a genetic disorder.

Definition by the National Society of Genetic Counselors (NSGC) (2006)

The NSGC is the professional body that supports genetic counsellors in North America. They created a new definition of genetic counselling in 2006:

“Genetic counselling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.”

Historical Context: Why Does Genetic Counselling Exist?

Background and Early History

1. Origin of the Term: The term "genetic counselling" was first used by scientist Sheldon Reed in 1947, six years before the discovery of DNA's structure.
2. Eugenics Movement: Early 20th century saw the rise of eugenics, a belief that certain people are born superior. Governments used this idea in harmful ways, with the Holocaust being the most infamous example. The UK and USA also had eugenics-based policies.
3. Sheldon Reed's Vision: Reed opposed eugenics and wanted genetics to focus on the well-being of families. He envisioned genetic counselling as a way to empower families with accurate information, distancing the field from eugenics.
4. Patient-Centred Approach: Reed described genetic counselling as “a kind of genetic social work without eugenic connotations,” focusing on the psychological and emotional support of families.

Establishment and Growth

1. Medical Genetics: In the late 1940s to 1960s, medical genetics became more established, but genetic counselling took time to emerge as a profession.
2. First Genetic Counselling Program: In 1969, the first genetic counselling program was established at Sarah Lawrence College in the USA.
3. Technological Advances: The 1970s saw the development of new technologies like amniocentesis (testing pregnancies), karyotyping (chromosome testing), and ultrasound imaging.
4. Changing Attitudes: The UK decriminalized abortion in 1967, and feminist movements continued to advocate for women's rights and choices.

Evolution in the 70s and 80s

1. Global Expansion: Genetic counselling programs emerged in the USA, UK, Canada, Australia, and South Africa.
2. Reproductive Medicine Focus: During this period, genetics was mostly involved in reproductive medicine.
3. Promotion of Patient Choice: Training programs emphasized 'non-directiveness,' avoiding telling patients what to do.
4. Carl Rogers' Influence: Carl Rogers, a psychotherapist, influenced genetic counselling with his principles of empathy, unconditional positive regard, and congruence (being genuine).
5. Empathy: Understanding and sharing the feelings of others.
6. Unconditional Positive Regard: Accepting and supporting people, even if their views differ.
7. Congruence: Being genuine and non-judgmental.
8. Seymour Kessler's Contributions: Kessler viewed genetic counselling as both educational and psychotherapeutic, advocating for minimizing traditional power dynamics to empower patients.

Ethical Principles and Values

1. Empowerment: Helping families understand their genetic risks and make informed decisions.
2. Support: Providing psychological and emotional support to individuals and families.
3. Accuracy: Ensuring the information provided is correct and up-to-date.
4. Non-Directiveness: Avoiding direct advice, allowing patients to make their own choices.
5. Empathy: Understanding and sharing the feelings of patients.
6. Unconditional Positive Regard: Accepting and supporting patients regardless of their choices.
7. Congruence: Being genuine and authentic in interactions with patients.
8. Education: Informing patients about genetic risks, testing, and management options.
9. Patient-Centred Care: Focusing on the needs and well-being of patients and their families.
10. Ethical Practice: Upholding ethical standards in all aspects of genetic counselling.
11. Respect: Treating patients with dignity and respect.
12. Confidentiality: Maintaining privacy and confidentiality of patient information.
13. Advocacy: Supporting patients' rights and needs in healthcare settings.
14. Cultural Sensitivity: Being aware of and respectful towards patients' cultural backgrounds and beliefs.
15. Continuous Learning: Keeping up with advancements in genetics and counselling techniques.
16. Collaboration: Working with other healthcare professionals to provide comprehensive care.

Summary of Key Takeaways

1. Origin and Purpose:
   • Genetic counselling began to counter eugenics and focus on family well-being (Sheldon Reed).
   • It aims to provide accurate information and psychological support.
2. Growth and Evolution:
   • The field has grown since the late 1940s, initially tied to reproductive medicine.
   • It has evolved with technological advances and societal changes.
3. Core Principles:
   • Non-directiveness: Allowing patients to make their own decisions without bias.
   • Empathy and positive regard (influenced by Carl Rogers): Understanding and supporting patients.
   • Ethical principles and cultural sensitivity are crucial.
4. Patient-Centred Approach:
   • Focuses on the well-being and empowerment of families.
   • Emphasizes continuous learning and adaptation.
5. Professional Practice:
   • Combines educational and therapeutic elements.
   • Requires collaboration with other healthcare professionals.
   • Strong communication skills and respect for confidentiality are essential.
6. Impact and Importance:
   • Plays a significant role in managing hereditary conditions.
   • Helps reduce anxiety about genetic risks and improves quality of life.
   • Genetic counsellors support families through the testing process and advocate for patient rights.
7. Global and Ethical Context:
   • The profession has grown globally with established programs in many countries.
   • Ethical standards guide the practice, emphasizing patient empowerment and choice.
   • The historical context underscores the importance of ethical practice in distancing from eugenics.
8. Continuous Development:
   • The field is dynamic, evolving with new research and technologies.
   • Genetic counselling is an ongoing process, not a one-time event.