Module information

Module details

Adult Genomics
Module code

Aim of this module

This module aims to provide the trainee with the knowledge required to diagnose adult patients with rare inherited disorders using genomics. Trainees will develop the skills to be able to apply genomic testing for adult patients with rare inherited disorders and understand the implications of results for family members.

This module includes the following conditions as exemplars: familial hypercholesterolaemia, neurological disorders such as Huntington’s disease, spinocerebellar ataxias, Friedreich’s ataxia and Charcot Marie Tooth (CMT), and referrals for infertility.

Work-based content

Training activities

# Learning outcome Training activity Type Action
# 1 Learning outcome 1 Training activities

Select the correct genetic test(s) for a range of adult conditions, to include:

  • NGS applied to an adult disorder e.g. familial hypercholesterolaemia, and CMT
  • Triplet repeat neurological disorders e.g. Huntington’s disease, spinocerebellar ataxias, and Friedreich’s ataxia
  • Chromosome analysis for infertility or recurrent miscarriage
  • Molecular analysis for infertility e.g.  cystic fibrosis, FMR1 and POF
Type ETA Action View
# 2 Learning outcome 3,4 Training activities

Analyse and interpret the results of chromosomal analysis for patients referred for infertility or recurrent miscarriage, and select appropriate reflex test

Type DTA Action View
# 3 Learning outcome 2,4 Training activities

Analyse and interpret the results from targeted testing for patients referred for infertility, to include:

  • Cystic fibrosis deletion
  • FMR1 analysis in relation to premature ovarian failure (POF)
Type DTA Action View
# 4 Learning outcome 2,4 Training activities

Analyse and interpret the results for a range of triplet repeat expansion disorders for adult patients

Type DTA Action View
# 5 Learning outcome 2, 4 Training activities

Analyse and interpret the results of NGS for a panel of genes related to adult-onset disorders

Type ETA Action View
# 6 Learning outcome 2,4 Training activities

Analyse and interpret the results for predictive, carrier or confirmation testing

Type ETA Action View
# 7 Learning outcome 5 Training activities

Prepare a range of interpretative reports relevant to adult referrals

Type ETA Action View
# 8 Learning outcome 4,5 Training activities

Interpret and report sequence variants

Type ETA Action View
# 9 Learning outcome 1,2,3,4,5,6 Training activities

Participate in service delivery for adult services

Type ETA Action View
# 10 Learning outcome 4,5 Training activities

Participate in multidisciplinary team discussions of genetic findings in an adult setting

Type DTA Action View


Complete 2 Case-Based Discussions

Complete 2 DOPS or OCEs

Direct Observation of Practical Skills Titles

  • Analyse and interpret results for an adult genetic investigation.
  • Prepare a report for and adult genetic investigation.
  • Classify a variant.
  • Perform chromosome analysis for an adult disorder.
  • Identify if a referral is appropriate for the testing required.
  • Perform a risk calculation.

Observed Clinical Event Titles

  • Provide advice to another healthcare professional on the requirements for a sample for adult investigation.
  • Identify results from testing with another healthcare science specialty which are relevant to the results of an adult genetic investigation.
  • Provide an urgent result to another healthcare professional.

Learning outcomes

# Learning outcome

Apply appropriate testing strategies to patients referred for adult-onset disorders.


Perform molecular analysis for patients referred with adult-onset disorders.


Perform chromosomal analysis for patients referred for adult-onset disorders.


Interpret genomic variants, including copy number and structural changes and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines.


Interpret and report genomic testing relevant to adult-onset disorders, including appropriate recommendations for patient management.


Employ specialist knowledge of adult genomics to deliver a safe and high-quality adult genomic service.

Clinical experiences

Clinical experiences help you to develop insight into your practice and a greater understanding of your specialty's impact on patient care. Clinical experiences should be included in your training plan and you may be asked to help organise your experiences. Reflections and observations from your experiences may help you to advance your practice and can be used to develop evidence to demonstrate your awareness and appreciation of your specialty.


  1. Attend multidisciplinary team meetings to appreciate the role of genetics in the patient pathway.
  2. Observe the set-up of assays for adult investigation.
  3. Attend in national variant meeting.
  4. Observe adult disorder genetics clinics to appreciate the consent discussion required with the patient prior to testing, ethical issues and implications or the family for example an adult-onset neurological clinic.

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. Explain the clinical presentation and assessment of patients with adult onset genetic and genomic disorders.
  2. Critically evaluate the appropriate genomic laboratory testing strategies for adult patients according to current best practice.
  3. Critically evaluate the design, operation and performance of a range of genomic tests relevant to the investigations of these disorders.
  4. Discuss and debate the relevant clinical scientific, ethical and legal considerations in the field of adult genomics.
  5. Describe the purpose and critically evaluate how integrated working between laboratory genetics and other clinical specialisms supports patient-centred care in adult genomics, including the diagnosis and treatment strategies for patients and their families.

Indicative content

  • Clinical presentations, genetic mechanisms and testing strategies relevant to adult genomics, to include:
    • Inherited peripheral neuropathies, e.g. CMT.
    • Neurogenetic conditions associated with short tandem repeats, to include Huntington’s disease, spinocerebellar ataxias and Friedreich’s ataxia.
    • Infertility (including cystic fibrosis, chromosome disorders and fragile X testing for premature ovarian failure).
    • Familial.
  • Bioinformatics for the processing of large datasets.
  • Interpret archived results based on older technologies and discuss the implication and limitation of these results for the patient and family.
  • Variant interpretation according to current best practice guidelines.
  • Consent for testing and storage of patient material.
  • National guidelines for predictive testing.
  • The importance of counselling, e.g. in predictive testing of late onset disorders such as Huntington’s disease and the importance of distinguishing between diagnostic and predictive test requests.
  • Safeguarding vulnerable adults.
  • The importance of appropriate internal quality control and external quality assurance.
  • Awareness of the importance of turnaround time in the pathway of care.
  • Role of multidisciplinary team meetings to aid interpretation and guidelines such as improving outcomes guidance and NICE guidelines.
  • Follow-up management for the family including recurrence risks and Bayesian calculations.

Module assigned to


Specialty code Specialty title Action
Specialty code SLS4-1-22 Specialty title Genomics [2022] Action View
Specialty code SLS4-1-23 Specialty title Genomics [2023] Action View
Specialty code SLS4-1-24 Specialty title Genomics [2024] Action View