Module - Principles and Practice of Genetic and Genomic Counselling (SLS403)

STP

Aim of this module

This module will provide the trainee with an introduction to the scope and diversity of genetic and genomic counselling practice, the skills required for safe, high quality patient care, the challenges faced by families affected by genetic conditions, skills in calculating, interpreting and communicating risk and other information and insight into the approaches used to achieve good patient outcomes. Such practice is wholly patient-centred and key themes such as the importance of the partnership between patient and counsellor and collaborative decision-making will be explored. 

Work-based learning outcomes


  1. Critically reflect on the roles of multidisciplinary team members and the range of genetic and genomic practice, having attended genetic and multidisciplinary clinics.
  2. Observe and assist during genetic and genomic counselling sessions under direct supervision.
  3. Gather a comprehensive medical, family and obstetric history and under direct supervision, assess and communicate the genetic risk.
  4. Following critical reflection on the role of the Genetic Counsellor in clinical practice, develop an action plan to inform their future practice.

Work-based Competencies


Learning outcome Title Knowledge
1 1

Critically reflect on the role of the genetic counsellor within genetic services and patient pathways through observing consultations involving an adult for the common types of referrals to a clinical genetics service.

  • The role of the genetic counsellor within genetic services and patient pathways.
  • The range of patient pathways for an adult patient (e.g. prenatal, cancer genetics, cardio-genetic, neuromuscular, neurological, connective tissue disorders).
  • How the clinical genetic service fits within the patient pathway for an adult patient.
2 1

Critically reflect on the role of the genetic counsellor within genetic services and patient pathways through observing consultations involving a child for the common types of referrals to a clinical genetics service.

  • The range of patient pathways for a paediatric patient (e.g. general paediatric, chromosomal anomalies etc.)
  • How the clinical genetics service fits within the patient pathway for a paediatric patient.
3 1

Critically reflect on the roles of the professional groups involved in delivering an NHS clinical genetics service.

  • The role of laboratory staff in an NHS clinical genetics service.
  • The role of clinical geneticists in an NHS clinical genetics service.
  • The role of genetic counsellors in an NHS clinical genetics service.
  • The role of administrative staff in an NHS clinical genetics service.
4 1

Appraise how clinical genetics and other health professionals work together in multidisciplinary teams.

  • Composition, role and working-practice of multidisciplinary teams.
  • Inputs and outputs from these multidisciplinary teams.
5 2

Identify the individual’s agenda in five observed genetic counselling sessions.

  • Role and process of active listening.
  • Importance for establishing agenda.
6 2

Identify the individual’s psychosocial concerns in five observed genetic counselling sessions.

  • Theories of psychosocial adjustment.
  • Responses to loss (bereavement, loss of imagined future).
  • Responses to uncertainty.
  • Family life cycle.
  • Impact of illness/disability on the family at different stages of the family life
  • Impact on the family when one or more family members have complex needs.
7 2

Observe a consultation involving an experienced genetic counsellor and (with permission) talk to the patient about their experience. Reflect on the possible differences between the clinician’s expectations of the appointment versus the patient’s experience

  • Principles of patient centred counselling.
  • Role and process of active listening.
  • Importance for establishing agenda.
8 2

Actively listen whilst establishing a relationship with the patient in a genetic counselling context in order to establish the patient agenda under direct supervision.

  • Principles of patient centred counselling.
  • Role and process of active listening.
  • Importance for establishing agenda.
  • Role in ascertaining medical and family history.
9 2

Reflect on the meaning of a client’s non-verbal communication in five observed genetic counselling sessions.

  • Determining what constitutes non-verbal communication.
  • The possible meaning behind different modes of non-verbal communication within the context of a genetic counselling consultation.
10 3

Gather comprehensive medical histories (including an obstetric history where relevant) relevant to the clinical question under direct supervision.

  • Medical history information needed for genetic risk assessment of different genetic conditions.
  • Obstetric history information needed for genetic risk assessment of different genetic conditions.
11 3

Gather a comprehensive 3- generation family history relevant to the clinical question and construct a clear 3-generation family tree under direct supervision.

  • Questions to ask when obtaining a family history.
  • Pedigree symbols.
  • Drawing a 3-generation family history.
12 3

Interpret the correct genetic risk of a condition for specified family members based on the information collected.

  • Modes of inheritance and calculation of recurrence risks for:
    • Autosomal dominant
    • Autosomal recessive
    • X-linked recessive
13 3

Identify strategies used by experienced genetic counsellors to convey risk and other genetic information in five observed genetic counselling sessions.

  • Calculation of recurrence risk for autosomal dominant, autosomal recessive and X-linked recessive
  • Online databases and courses of information for establishing the pathogenicity of genetic
  • Counselling tools to convey risk in terms the individual patient will understand.
14 3

Accurately communicate risk under direct supervision.

  • Strategies to convey risk and other genetic information relevant to the client’s agenda.
15 4

Use a model of reflective practice to describe what happened and what could have been done differently to achieve a better outcome for the patient in three observed genetic counselling sessions.

  • Different models of reflective practice.
  • Strengths and weaknesses of each model.
  • Counselling theories.
  • Genetic counselling practice.
16 4

Use a model of reflective practice to describe what happened and what could have been done differently to achieve a better outcome for the patient in a genetic counselling session that you assisted in under direct supervision.

  • Different models of reflective practice.
  • Strengths and weaknesses of each model.
  • Counselling theories.
  • Genetic counselling practice.

Work-based assessment


Complete 1 Case-Based Discussion(s)
Complete 1 of the following DOPS and/or OCEs
Type Title
DOPS Calculate recurrence risk to specified family members within a family tree showing X linked recessive inheritance.
DOPS Calculate recurrence risk to specified family members within a family tree with autosomal recessive inheritance
DOPS Establish elicit the medical history information needed for genetic risk assessment of developmental delay
OCE Take a 3 generation family history in clinic with a patient and record it accurately
OCE Establish the patients agenda in clinic
OCE Identify the individuals psychosocial concerns in an observed genetic counselling session