8.4.9 Genetic Counselling & Personalised Medicine

Genetic Counselling

Genetic counselling is a service that provides information and support to individuals or families affected by, or at risk of, genetic conditions. It involves:

1. Risk Assessment:

• Determining the likelihood of inheriting or passing on a genetic disorder.
• Using family history and genetic testing results to estimate risk.

2. Information Provision:

• Explaining the nature of the condition, including its inheritance, symptoms, and treatments.
• Discussing the likelihood of occurrence or recurrence in future generations.

3. Support for Decision-Making:

• Helping individuals or families make informed decisions about reproductive choices, medical management, and lifestyle adaptations.
• Examples include decisions about pre-implantation genetic diagnosis (PGD) or prenatal testing.

4. Emotional Support:

• Addressing the psychological and emotional impact of genetic disorders.

Personalised Medicine

Personalised medicine refers to tailoring medical care and treatments to an individual's unique genetic makeup. Key aspects include:

5. Genetic Screening:

• Identifying variations in genes that affect how an individual responds to specific drugs.
• Used to predict the effectiveness and side effects of treatments.

6. Targeted Therapies:

• Developing medications designed to interact with specific genetic mutations or pathways.
• For example, Herceptin targets HER2-positive breast cancer cells.

7. Preventative Measures:

• Identifying genetic predispositions to diseases like cancer or heart conditions.
• Allows early interventions such as lifestyle changes or regular screenings.

8. Benefits of Personalised Medicine:

• More effective treatments with fewer side effects.
• Reduced trial-and-error in finding the right medication or dose.
• Improved patient outcomes and quality of life.

Ethical Considerations in Genetic Counselling & Personalised Medicine

• Privacy: Ensuring genetic information is securely stored and not misused by insurers or employers.
• Informed Consent: Patients must fully understand the implications of genetic tests and treatments.
• Equity: Access to personalised medicine should not be limited by socioeconomic factors.
• Psychological Impact: Counselling is vital to manage the stress of genetic findings.