This article highlights the role of genetic counselling in cancer care, focusing on risk management, along with emotional support, prevention, and the need for skilled counsellors to guide informed decisions.

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What is genetic counselling?

Aims and objectives of genetic counselling:

• Developing a rapport with the patient
• Understand the risk of occurrence
• Understands how hereditary contributes to certain diseases
• Tailored risk management plans
• Emotional and Psychological support
• Risk assessment and identification
• Advising genetic testing
• Role in targeted therapies
• Enhancing Preventive Healthcare
• Collaborative Role in Multidisciplinary Care
• Providing an opportunity for patients to ask questions

Genetic counselling has become a cornerstone of personalised medicine, particularly in cancer care. It serves as a vital bridge between complex genetic science and practical, patient-centric healthcare.

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1. Risk assessment and identification

Genetic counselling begins with evaluating a patient’s personal and family history to assess their risk of developing cancer. This process involves:

1. Collecting detailed family histories to identify patterns of hereditary cancers such as breast, ovarian, colorectal, and pancreatic cancers.
2. Using tools like pedigree charts and risk assessment models to predict the likelihood of cancer-related genetic mutations (e.g., BRCA1, BRCA2, MLH1).

2. Genetic testing

A genetic counsellor provides guidance on whether genetic testing is appropriate and ensures the patient understands its implications. Key aspects include:

1. Pre-test counselling: Discuss the purpose, benefits, and limitations of genetic tests.
2. Test selection: Helping patients choose the right genetic test based on their clinical scenario.
3. Post-test counselling: Explaining the results and their significance, whether positive, negative, or variant of uncertain significance (VUS).

Discussing the further options, treatment plans and cascade testing i.e. family member testing.

3. Tailored risk management plans

For patients found to carry cancer-predisposing mutations, genetic counselling offers personalised strategies to manage their risk, including:

1. Surveillance: Recommending regular screenings (e.g., mammograms, colonoscopies) to detect cancer early.
2. Preventive measures: Advising on lifestyle changes, chemoprevention, or prophylactic surgeries like mastectomy or RRSO (Risk-reducing salpino-oophorectomy).
3. Family implications: Counseling family members who may also be at risk.

4. Emotional and psychological support

A diagnosis of hereditary cancer predisposition can evoke a range of emotions. Genetic counsellors provide:

1. Compassionate support to help patients process their results.
2. Resources for coping, such as support groups and mental health professionals.

5. Role in targeted therapies

Genetic insights have revolutionised cancer treatment. Patients with identified mutations may benefit from:

1. Targeted therapies: Drugs like PARP inhibitors for BRCA-mutated cancers.
2. Clinical trials: Access to novel treatments based on their genetic profile.

6. Enhancing preventive healthcare

Genetic counselling promotes awareness of cancer prevention by:

1. Educating patients about hereditary cancer syndromes.
2. Empowering families to make informed health decisions.

7. Collaborative role in multidisciplinary care

Genetic counsellors work alongside oncologists, surgeons, and other healthcare professionals to integrate genetic information into the broader cancer care plan, ensuring a holistic approach.

Principles of genetic counselling:

• Beneficence
• Non-maleficence
• Autonomy
• Non-directiveness
• Informed decision
• Confidentiality and privacy
• Empathy and support
• Fairness

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Challenges in genetic counselling

Despite its benefits, genetic counselling faces challenges, such as:

1. Limited access in remote or underserved areas.
2. High costs of genetic testing and follow-up care.
3. Ethical concerns regarding genetic data privacy.

Genetic counselling plays a crucial role in helping patients and their families understand the hereditary risks of certain diseases. With genetics being a rapidly evolving field, the demand for skilled genetic counsellors continues to grow. These healthcare professionals not only guide patients on the right course of action but also provide invaluable psychological and emotional support throughout their journey.

For cancer patients, genetic counselling is especially significant, as 5–10% of cancers are hereditary. Battling cancer often brings an overwhelming mix of emotions, and patients need empathy, care, and unwavering support. Genetic counsellors serve as compassionate listeners, offering guidance and holding their hands through every step of the process.

Disclaimer- The views and opinions expressed in this article are those of the author and do not necessarily reflect the official policy or position of M3 India.
About the author of this article: Dr. Archi Rungta, BDS, Currently pursuing a PG Diploma in Cancer Genetics and Genetic Counselling from Tata Memorial Hospital, Mumbai.