Principles and Practice of Genetic and Genomic Counselling (SLS403)

10 credits

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. 

  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.
Number Work-based 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.

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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.

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3 1

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

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4 1

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

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5 2

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

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6 2

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

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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

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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.

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9 2

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

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10 3

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

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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.

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12 3

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

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13 3

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

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14 3

Accurately communicate risk under direct supervision.

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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.

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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.

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You must complete
1 Case-based discussion(s)
1 of the following DOPS / OCEs
Assessment Title Type
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 DOPS
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 OCE

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

  1. Explain the scope and diversity of genetic and genomic counselling practice.
  2. Discuss the professional context of the work of the genetic counsellor in the UK and internationally.
  3. Discuss and justify the changing ethos and values of genetic counselling in a historical context.
  4. Discuss 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.
  5. Discuss the concepts of probability, risk and uncertainty in the healthcare context and illustrate how different individuals perceive these differently.
  6. Explain the principles that support the communication of complex information including information about risk and uncertainty.
  7. Evaluate a range of effective approaches to explaining complex genetic concepts and helping individuals and families utilise genetic information and testing effectively.
  8. Discuss the challenges faced by individuals and families affected by genetic conditions.
  9. Critically evaluate the range of approaches used to achieve positive patient outcomes in genetic and genomic counselling practice. 
  10. Appraise the range of information resources relating to genetic conditions, tests and family support services that may be used to support genetic and genomic counselling. 
  11. Appraise the overarching psychological and social issues that can arise from genetic and genomic counselling.
  12. Appraise the value and ethos of patient-centred care and discuss how you will embed patient-centred care in your clinical practice.
  13. Develop skills that support the communication of complex information. (The trainee will have the opportunity to gain and practice these skills within a safe learning environment in the University setting)

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) and British Society of Genetic Medicine (BSGM)
  • The Genetic Counsellor 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
  • Patient safety (including safeguarding children, young people and vulnerable adults) and patient-centred care
  • 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
    • 3-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, 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, contextualization)
    • 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
  • Impact on the family of a possible genetic condition:
    • Impact of illness/disability on the family
    • Impact on the family when one (or more) family members have complex needs
    • Role of support services