Applied Genetics and Genomics in Clinical Care (SLS425)

10 credits

Aim of this module

This module will provide the trainee with a knowledge base across a breadth of commonly encountered genetic and genomic conditions. It will equip students with the skills to apply knowledge as they work in partnership with patients, their families and clinical colleagues and will help them consider the genetic and genomic counselling service from a patient perspective. 

Using case based learning they will understand the diagnosis, course and prognosis, management, inheritance and recurrence risks for the most commonly encountered genetic and genomic conditions. The importance of collaborative decision making, treating patients and their families with empathy and respect, in addition to supporting choice and autonomy will be embedded into all learning. A  comprehensive approach across life stages is undertaken. The emphasis will be on developing Genetic Counsellor professional competencies relating to clinical assessment and provision of accurate clinical, genetic and genomic information. Genomic and other investigations including predictive, carrier and prenatal testing, screening and family impact will also be included.

In the work-based module they will be expected to apply clinical knowledge within supervised genetic and genomic counselling practice across a range of clinical conditions. This includes providing risk assessment, clinical information, making appropriate referrals for clinical management and providing summary letters within a patient-centred clinical service.

  1. Plan, structure, deliver and appropriately document Genetic Counsellor consultations of a less complex nature.
  2. Organise and interpret appropriate genetic investigations in the context of risk assessment and patient clinical management.
  3. Synthesise and critically analyse the literature (including clinical guidelines and pathways) to compile information on the aetiology and clinical presentation of a range of genetic and genomic disorders.
  4. Communicate genetic information to individuals and their families referred across a range of clinical situations including prenatal, paediatric, adult (including cancer), being sensitive to patient information needs and the psychosocial and cultural context of the counselling session.
  5. Use a multidisciplinary approach, including clinical supervision and teamwork to support the diagnosis and management of genetic and genomic disease, referral of patients and appreciate the context of genetic and genomic conditions within wider healthcare management of patients.
  6. Provide information about potential research projects that patients may be eligible to join.
Number Work-based learning outcome Title Knowledge
1 1,3

Prepare for a range of clinical appointments through identifying, synthesising, organising and summarising relevant information about the genetic condition in question.

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2 1,3

Prepare for a clinical appointment where the genetic condition in question is one in which the trainee has not encountered before.

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3 1

Elicit and accurately interpret the medical, family and psychological history for three consultations and illustrate this through the drawing of a pedigree.

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4 1

Collect and maintain accurate genetic records in accordance with NHS and professional standards.

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5 1,4

Convey clinical and genetic information to patients appropriate to their individual needs.

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6 3,4

Synthesise information about a genetic condition in a format to support patient understanding, e.g. counselling aide or leaflet.

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7 1,4

Review a range of post clinical summary letters and assess, from the point of view of a service user, the clarity of the message and the tone of written communication.

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8 1,4

Prepare post clinic summary letters, including the appropriate use of interpretive comments and limits of responsibilities.

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9 1

Make appropriate and accurate genetic risk assessment.

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10 1,2

Order appropriate investigations across a breadth of conditions and review how these results have affected patient care or altered the care pathway.

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11 1,2,4

Explain options to patients including risks, benefits and limitations. This includes genetic risk assessment and the appropriate interpretation of genetic and clinical knowledge.

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12 1,3,4

Deliver, under supervision, three genetic counselling consultations for a range of less complex clinical situations (e.g. reproductive, adult, cancer) applying clinical skills appropriate to the situation and ensuring patient centred care.

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13 3

Disseminate evidence of good practice and service improvement through verbal and written media, following a critical analysis of current evidence.

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14 3,5

Act as a resource of information on genetic conditions and genomic science for other healthcare professionals and/or PPI activities (e.g. speaking at patient support group meetings).

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15 5

Establish effective working relationships to function within a multidisciplinary team and as part of the wider health and social care network.

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16 5

Address issues regarding conflicts of confidentiality through appropriate use of professional standards and guidelines.

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17 5

Recognise own professional boundaries (working within own practice capability), seeking clinical supervision and referring on when needed.

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18 5

Assist in presenting cases in clinical meetings

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19 6

Identify appropriate research projects relevant for different patient groups.

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20 6

Complete Good Clinical Practice Training Programme and apply this in practice.

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21 6

Provide information about relevant research projects to eligible individuals.

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You must complete
2 Case-based discussion(s)
2 of the following DOPS / OCEs
Assessment Title Type
Gather Evidence from multiple sources e.g. current and historical hospital community medical records, laboratory reports, health profession statements to aid in the diagnosis or risk assessment in an individual with an unkown paediatric diagnosis. DOPS
Arrange primary or secondary preventative strategies for an individual where screening or prophylatic treatment has been proven to reduce risk of disease DOPS
Describe the current options regardng a pre and post natal population genetic screening programme e.g. Down syndrome, newborn screening DOPS
Identify limitations in practice and seek appropriate advice, support and document appropriately in notes DOPS
Produce a summary letter using appropriate language to communicate the clinical and psychosocial aspects, language, recurrence risks. DOPS
Complete a risk assessment for a Mendelian condition and communicate risk information to patient OCE
Provide appropriate follow up care following genetic counselling consultation OCE
With support from a colleague, plan and deliver predictive testing in a genetic counselling consultation OCE
Deliver information and provide psychosocial support in a challenging uncertain diagnostic situation 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. Describe the clinical presentation of a range of commonly encountered genetic and genomic conditions, presenting in differing clinical situations, e.g. prenatal, paediatrics, inherited cancer and adult-onset conditions and discuss the impact of these across life stages.
  2. Explain the genetic mechanisms and inheritance patterns underpinning a range of inherited conditions (e.g. single gene variants, chromosomal abnormalities, triplet repeats, imprinting, mitochondrial disease) and also the genetic and genomic contribution to multi-factorial conditions.
  3. Access and critique resources and guidelines relevant to a specific clinical situation.
  4. Discuss the concept of differential diagnoses and describe a range of investigations, including their underpinning evidence base, required to discriminate between conditions.
  5. Discuss and interpret how genetic and genomic testing may be applied to individual clinical situations including the potential uses and limitations for supporting the family and collaborative decision-making.
  6. Describe different ways of presenting risk and methods for calculating risks from family pedigrees and empiric data.
  7. Discuss how psychosocial issues are considered during the process of genetic diagnosis and the importance of the partnership with the individual/family.

Indicative Content

Clinical context

Using a case based approach, trainees are expected to be familiar with a range of genetic and genomic situations including inheritance, risk, family impact and decisions, in addition to diagnosis and management within the context of different life stages (see below). The aim is to equip students with the skills to apply knowledge for investigation, differential diagnosis and evidence-based practice. Conditions in below illustrate a breadth of conditions as minimal exemplars.

  • 22q11 deletion
  • Achondroplasia
  • Anencephaly
  • Angelman syndrome
  • Cleft lip
  • Cystic Fibrosis
  • Duchenne Muscular Dystrophy (DMD)
  • Fragile X
  • Haemochromatosis
  • Hereditary breast and ovarian cancer, colon cancer syndromes
  • Huntington Disease
  • Hypertrophic and dilated cardiomyopathy, cardiac arrhythmias Klinefelter syndrome
  • Myotonic dystrophy
  • Neurofibromatosis Type 1 and Type 2 (NF1/2)
  • Phenylketonuria (PKU)
  • Retinitis pigmentosa (RP)

In addition; 

  • Cowden Syndrome
  • Cri du chat
  • Diabetes
  • Down syndrome
  • Hypercholesterolaemia
  • Spinal Muscular Atrophy (SMA)
  • Syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke- like episodes (MELAS)
  • Tuberous sclerosis (TS)

The module will explore the impact of genetic and genomic conditions, testing and management across the life stages, including prenatal (prenatal diagnosis, screening including national screening programmes, non-invasive prenatal diagnosis (NIPD) or testing (NIPT) and genetic single gene/array and combined screening such as biochemical and ultrasound), paediatric and adult (including adolescents and transition care).

Diagnosis, testing and management

Consider services from a patient perspective:

  • The genetic basis of disease and the mechanisms of pathogenesis
  • Clinical presentation and assessment of patients within a patient centred service
  • How to promote shared decision making while respecting culture, equality and diversity
  • Critically appraise and synthesise the literature and databases that underpin best practice guidelines (including NICE guidance)
  • Diagnostic and prognostic significance of genetic and genomic test results
  • Application of techniques for diagnosis including latest technologies (clinical exam/history, radiology, biochemistry, genomic analysis, arrays)
  • Selection of appropriate diagnostic tests (biochemical, histochemical, single gene / genomic)
  • Ordering of appropriate clinical investigations, receiving laboratory reports and delivering appropriate interpretation of results for risk assessment and decision- making
  • Timely and appropriate delivery of results
  • Clinical features of the disease including course and prognosis of disease
  • Appropriate interpretation of risk and management options, including screening and prevention options
  • The clinical scientific, ethical and legal requirements of prenatal, paediatric, presymptomatic, carrier and diagnostic testing
  • Social and psychological impact of genetic testing

 Risk analysis

  • Risk assessment and interpretation including approaches applied to local situations, including risk communication
  • Absolute
  • Relative
  • Odds ratios
  • Natural frequencies (population)
  • Life-time risk
  • Age related risks

 Multidisciplinary working

  • The role of different clinical specialties in the care of patients with genetic conditions
  • When and how to refer for clinical screening and management where appropriate
  • Multidisciplinary practice, boundaries, diagnostic pathways and multidisciplinary care
  • Role of clinical management processes including clinical supervision (AGNC definition of clinical supervision) and multidisciplinary team (MDT) meetings
  • How to evaluate personal professional practice including identifying one’s own limitations, within the context of the professional practice guidelines of the Genetic Counsellor Registration Board (GCRB)
  • 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

 Research

  • Research opportunities for different patient groups
  • The importance of research to inform clinical guidelines and evidence based practice
  • Role of Good Clinical Practice for those who are involved in recruiting individuals to research projects, together with the roles and responsibilities of each individual member of the research team, including trainees in STP
  • Ethical and research governance approval that must be in place for every research study
  • Difference between consenting for a research project and consenting for genetic or genomic testing