Module information

Module details

Title
Introduction to the Principles and Practice of Genetic and Genomic Counselling
Type
Rotation
Module code
S-GC-R1
Credits
10
Phase
1
Requirement
Compulsory

Aim of this module

This module will provide the trainee with an introduction to the scope and diversity of genetic and genomic counselling practice. It will focus on providing an introduction to the counselling and communication process in Genetic and Genomic Counselling. It will introduce skills including taking a comprehensive family history, interpreting and communicating risk, facilitating decision making and supporting families affected by genetic conditions. The emphasis will be on evidence-based approaches to achieving good patient experience and outcomes. Such practice is wholly patient-centred and key themes such as the importance of the partnership between patient and counsellor and collaborative ways of working will be explored.

Work-based content

Training activities

# Learning outcome Training activity Type Action
# 1 Learning outcome 1,2,3,6 Training activities

Shadow a Genetic Counsellor and reflect on their role

Type OTA Action View
# 2 Learning outcome 1,2,3,6 Training activities

Attend a clinical genetics multi-professional meeting where clinical case management is discussed and reflect on the meeting

Type OTA Action View
# 3 Learning outcome 1,2,3,6 Training activities

Follow the patient pathway focusing on the relationship between the Genetic Counsellor and patient and reflect on the journey

Type OTA Action View
# 4 Learning outcome 1,2,3,6 Training activities

Observe an appointment led by a Clinical Geneticist and reflect on the appointment

Type OTA Action View
# 5 Learning outcome 1,3,4,6 Training activities

Explore an innovation in policy, procedure, technology or guidelines in the specialty area, and reflect on the impact this will have on practice

Type OTA Action View
# 6 Learning outcome 1,3,5,6 Training activities

Review the effect of legislation, guidance or law within genomic counselling and reflect on how this guides practice

Type OTA Action View
# 7 Learning outcome 1,2,3,6 Training activities

Observe the communication of a range of inheritance patterns and reflect on the discussion

Type OTA Action View
# 8 Learning outcome 1,2,3,6 Training activities

Observe experienced genetic counsellors using techniques to assess and communicate risk, and reflect on the discussion

Type OTA Action View
# 9 Learning outcome 1,2,3,6 Training activities

Observe obtaining family, medical, psychosocial and obstetric history relevant to a referral and reflect on the process

Type OTA Action View
# 10 Learning outcome 1,2,3,6 Training activities

Observe counselling and consent procedures associated with genetic testing and reflect on the processes

Type OTA Action View

Assessments

Complete 1 Case-Based Discussion

Complete 1 DOPS or OCE

Direct Observation of Practical Skills Titles

  • Identify the medical history information required for a genetic risk assessment.
  • Calculate recurrence risk to specified family members within a family tree showing X linked recessive inheritance.
  • Calculate recurrence risk to specified family members within a family tree with autosomal recessive inheritance.
  • Identify the individual’s psychosocial concerns in an observed genetic counselling session.

Observed Clinical Event Titles

  • Gather a patient history relevant to the specialty from a patient, patient representative, or a member of the multidisciplinary healthcare team.
  • Present a patient case relevant to the specialty to another healthcare professional or a member of the multidisciplinary healthcare team.
  • Establish the patients agenda in a clinic appointment.

Learning outcomes

# Learning outcome
1

Explore the contribution of Genetic and Genomic Counselling to patient care.

2

Identify the roles and relationships of the multidisciplinary team in Genetic and Genomic Counselling.

3

Describe the working practices of Genetic and Genomic Counselling.

4

Examine the impact of innovation in Genetic and Genomic Counselling.

5

Review the effect of legislation in Genetic and Genomic Counselling.

6

Compare and contrast the practice of Genetic and Genomic Counselling with other specialties.

Clinical experiences

Activities

Information:

There is no clinical experiential learning associated with this module.

Academic content (MSc in Clinical Science)

Important information

The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.

Learning outcomes

On successful completion of this module the trainee will be able to:

  1. Discuss the professional context, ethos and value of genetic counselling within genetic services in the UK.
  2. Apply integrative knowledge of the use of family trees and generate risk figures for different individuals in a family, using knowledge of inheritance patterns including appropriate conditional information that will influence risk.
  3. Demonstrate extended understanding of the concepts of probability, risk and uncertainty in the healthcare context and explain the principles that support the communication of complex risk information.
  4. Critically evaluate a range of effective approaches to explain complex genetic concepts and helping individuals and families use genetic information and testing effectively.
  5. Discuss the challenges faced by individuals and families affected by genetic conditions.
  6. Critically evaluate the range of approaches used to achieve positive patient outcomes in genetic and genomic counselling practice.
  7. Appraise the overarching psychological and social issues that can arise from genetic and genomic counselling.

Indicative content

Genetic and Genomic Counselling Practice

  • The role and development of clinical genetics services within the NHS
  • The role and requirements of the HCPC and their standards of proficiency for clinical practice
  • Clinical guidance from other agencies/bodies, e.g. Genetic Counsellor Registration Board (GCRB), Association of Genetic Nurses and Counsellors (AGNC) and British Society of Genetic Medicine (BSGM)
  • The Genetic Counsellor’s role in the UK and internationally
    • Multidisciplinary working
  • Facilitators and barriers to accessing genetic counselling services within the NHS
  • Philosophy and ethos of genetic counselling
    • From eugenics to patient empowerment
    • Supporting autonomy and core conditions of counselling
    • Reflective practice in the context of patient communication
  • The impact of culture, equality and diversity on practice
  • Limits of the concept of confidentiality
  • The principles of information governance and awareness of the safe and effective use of health and social care information

Family history

  • Family trees
    • Three-generation family trees
    • How to take a medical/obstetric history
    • Use (and limits) of the family tree in genetic risk assessment

Risk assessment

  • Genetic risk assessment
    • Predicting risk to specified family members in the context of dominant, recessive and X-linked inheritance patterns
    • Online databases and sources of information for establishing the pathogenicity of genetic variants
    • Calculate an individual’s risk of inheriting or developing a genetic condition that runs or may run in their family, taking into consideration the inheritance pattern of the condition, their family structure and any conditional events that may have influenced their risk
  • Communication of genetic risk
    • Risk perception (numerical vs perceived ‘burden’ of disease), including perceived a priori risk
    • Strategies for risk communication (e.g. framing and contextualisation)
    • Counselling tools to convey risk and other complex information, including counselling aids

Psychosocial impact

  • Introduction to the psychosocial impact of a family history of a (possibly) genetic condition and of genetic risk information
  • Impact on the individual of a possible genetic condition:
    • Theories of psychosocial adjustment
    • Responses to loss (bereavement loss of imagined future)
    • Responses to uncertainty

Module assigned to

Specialties

Specialty code Specialty title Action
Specialty code SLS4-2-22 Specialty title Genomic Counselling [2022] Action View
Specialty code SLS3-1-22 Specialty title Embryology [2022] Action View
Specialty code SLS3-2-22 Specialty title Andrology [2022] Action View
Specialty code SLS4-1-22 Specialty title Genomics [2022] Action View
Specialty code SBI1-1-22 Specialty title Clinical Bioinformatics Genomics [2022] Action View
Specialty code SBI1-1-23 Specialty title Clinical Bioinformatics Genomics [2023] Action View
Specialty code SLS3-2-23 Specialty title Andrology [2023] Action View
Specialty code SLS3-1-23 Specialty title Embryology [2023] Action View
Specialty code SLS4-2-23 Specialty title Genomic Counselling [2023] Action View
Specialty code SLS4-1-23 Specialty title Genomics [2023] Action View
Specialty code SBI1-1-24 Specialty title Clinical Bioinformatics Genomics [2024] Action View
Specialty code SLS4-2-24 Specialty title Genomic Counselling [2024] Action View
Specialty code SLS4-1-24 Specialty title Genomics [2024] Action View
Specialty code SLS3-2-24 Specialty title Andrology [2024] Action View
Specialty code SLS3-1-24 Specialty title Embryology [2024] Action View