Module - Prenatal Genomics (SLS420)

STP

Aim of this module

This module will provide the trainee with knowledge and understanding of the role and application of genetic and genomic testing for prenatal testing, including screening and diagnosis and . It will also consider the potential impact of prenatal testing on the patient and their family.

 

Work-based learning outcomes


  1. Apply an appropriate testing strategy (the right sample, the right test, for the right reasons) meeting all relevant KPIs (key performance indicators, however defined).
  2. Analyse and interpret results of specific defined tests.
  3. Identify and respond appropriately to results.
  4. Compose fully interpreted clinical reports guided by current best practice guidance.
  5. Act in accordance with the high level of laboratory risk associated with prenatal testing and within limits of their responsibilities.

Work-based Competencies


Learning outcome Title Knowledge
1 1,5

Choose the correct prenatal sample pathway for the sample received.

  • The range of methods used in prenatal genetic testing; their application and limitations.
  • How to identify the patient cohort and factors which influence the choice of test.
  • Sample requirements for different tests.
  • The scientific basis of Down syndrome screening and the role of the Fetal Anomaly Screening Programme (FASP) in defining its application and assessing results.
  • The role of ultrasound scanning for fetal abnormality – specifically the scan findings associated with genetic conditions.
  • The origin, aetiology, prevalence and clinical significance of the common conditions for which prenatal diagnosis is offered.
  • The ethical issues around patient consent in both a screening and a diagnostic context.
2 1,2,3,5

Perform the analysis and interpretation of rapid aneuploidy screening results.

  • The technical pathway for rapid aneuploidy screening including its limitations, sensitivities, essential requirements for good laboratory practice and the risks.
  • How to identify potential for error, how this is mitigated and its potential effects.
  • Best practice guidelines compared with laboratory practice and any differences between the two.
  • Confined placental mosaicism (CPM), its origins and effects for both the fetus and the test.
  • Fetal mosaicism, its origins and effects for both the fetus and the test.
  • Further technical testing which may be required.
  • Reporting strategies.
  • Maternal cell contamination (MCC).
  • How to identify, quantify and qualify MCC.
  • Reporting
  • Polysomy, its origins and effects for both the fetus and the
  • The considerations required for twin and other multiple pregnancies.
3 4,5

Prepare full and accurate interpretive clinical reports for rapid aneuploidy testing.

  • How to recognise all tests have been completed to a satisfactory standard for the referral reason.
  • All information has been validated as correct.
  • Selection of correct report template for referral reason.
  • Use of correct scientific and clinical terminology.
  • Best practice guidelines compared with laboratory practice and any differences between the two.
  • Pertinent EQA schemes. The role and practice of pertinent EQA schemes.
  • How EQA schemes are incorporated into laboratory practice for the complete cycle of sample/ test receipt, analysis, reporting, submission result receipt and dissemination to staff.
  • The ISO15189 standards for lab participation in EQA schemes.
  • The requirement for follow up testing; the testing methods available, the appropriate choice of test, limitations and sample requirements.
  • Potential effect on the patient care pathway.
  • How to assign appropriate GenU.
  • How to accurately use international reporting nomenclature.
  • Key performance indicators (KPIs) associated with these tests.
  • Use of audit data to analyse test performance.
4 1,2,3,5

Perform the analysis and interpretation of Prenatal Chromosomal Microarray.

  • The technical pathway including its limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
  • How to identify and describe potential for error, how this is mitigated, its potential effects and the reporting strategy.
  • Best practice guidelines compared with laboratory practice and the differences between the two.
  • The concept of incidental findings and guidance for reporting these results.
  • Confined placental mosaicism (CPM), its origins and effects for both the fetus and the test and technical testing which may be required.
  • Maternal cell contamination (MCC).
  • How to identify, quantify and qualify MCC and further technical testing which may be required.
  • Fetal mosaicism, its origins and effects for both the fetus and the test and further technical testing which may be required.
  • Polysomy, its origins and effects for both the fetus and the test and further technical testing which may be required.
  • Validation and verification of findings.
  • Describe how findings are classified, from benign to pathogenic.
5 4,5

Prepare full and accurate interpretive clinical reports for Prenatal Chromosomal Microarray testing.

  • How to recognise all tests have been completed to a satisfactory standard for the referral reason.
  • All information has been validated as correct.
  • Use of correct scientific and clinical terminology.
  • Selection of correct report template for referral reason.
  • Best practice guidelines compared with laboratory practice and any differences between the two.
  • How to identify pertinent EQA schemes. Describe their role and practice and how these are incorporated into laboratory practice for the complete cycle of sample/test receipt, analysis, reporting, submission result receipt and dissemination to staff. Discuss the ISO standards for lab participation in EQA schemes.
  • How to identify the requirement for follow up testing, the testing methods available and the appropriate choice of test. Describe any limitations.
  • Describe sample requirements. Discuss the potential effect on the patient care pathway. Describe how test results may have clinical implications for the fetus and/or other family members.
  • How to assign appropriate GenU.
  • How to accurately use international reporting nomenclature.
  • Key performance indicators (KPIs) associated with these tests.
  • The clinical features of the commonly encountered chromosome abnormalities in prenatal samples.
  • How to follow up (proband or family) or adjunctive tests.
  • How to present the audit data for these tests – specifically performance data.

 

6 1,2,3,5

Perform the analysis and interpretation of Prenatal Diagnosis for single gene mutations.

  • The sample and clinical requirements for the prenatal diagnosis of a single gene disorder.
  • The range of technical pathways by example, including limitations and sensitivities, the essential requirement for good laboratory practice and the risks. Identify and describe potential for error, how this is mitigated and its potential effects.
  • Best practice guidelines.
  • Difference between the two. Apply good practice at all times.
7 4,5

Prepare full and accurate interpretive clinical reports for Prenatal Diagnosis of single gene disorders.

  • How to recognise all tests have been completed to a satisfactory standard for the referral reason.
  • All information has been validated as correct.
  • Selection of correct report template for referral reason.
  • Use of correct scientific and clinical terminology.
  • Key performance indicators (KPIs) associated with these tests.
  • How to assign appropriate GenU.
  • How to accurately use international reporting nomenclature.
  • How to identify appropriate follow-up (proband or family) or adjunctive tests.
8 1,2,3,5

Perform follow up genetic tests, to include directed FISH and karyotype analysis (generally regional specific assays).

  • The sample and clinical requirements for follow-up tests.
  • The range of technical pathways by example, including limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
  • Identify and describe potential for error, how this is mitigated and its potential effects.
  • Best practice guidelines compared with laboratory practice and any differences between the two.
9 1,2,3,5

Assist in the analysis and interpretation of Non-Invasive Prenatal Testing (NIPT).

  • The biological basis and the technical and scientific principles for the identification of genetic fetal pathology using Non-Invasive Prenatal Testing (NIPT).
  • How to identify the potential for error, how this is mitigated and its potential effects.
  • The concept of NIPT, describing the range of incidental findings.
  • The principles and differences of screening and diagnostic tests
  • KPIs and their reporting.
10 4,5

Prepare full and accurate interpretive clinical reports for Non- Invasive Prenatal Diagnosis (NIPD).

  • How to recognise all tests have been completed to a satisfactory standard for the referral reason.
  • All information has been validated as correct.
  • Selection of correct report template for referral reason.
  • Use of correct scientific and clinical terminology.
  • Best practice guidelines compared with laboratory practice and any differences between the two.
  • The role and practice of EQA schemes.
  • How EQA schemes are incorporated into laboratory practice for the complete cycle of sample/test receipt, analysis, reporting, submission, result receipt and dissemination to staff.
  • ISO standards for laboratory participation in EQA schemes.
  • How to identify the requirement for follow up testing, the testing methods available and the appropriate choice of test. The limitations of these tests. Sample requirements and the potential effect on the patient care pathway.
  • How to assign appropriate GenU.
  • How to accurately use international reporting nomenclature.
  • Key performance indicators (KPIs) associated with these tests.
  • How to identify appropriate follow up (proband or family) or adjunctive tests.
  • Use of audit data to analyse test performance.

Work-based assessment


Complete 2 Case-Based Discussion(s)
Complete 2 of the following DOPS and/or OCEs
Type Title
DOPS Analyse and record results for single gene mutation analysis
DOPS Analyse and record results of QF PCR data using fragment analysis software
DOPS Set up FISH slide for aneuploidy detection
DOPS Analyse FISH slide and record results
DOPS Analyse results of a prenatal array using appropriate software package and record results
DOPS Set up PCR for aneuploidy screen
DOPS Set up PCR for targeted single gene mutation analysis
DOPS Perform duty scientist checking of samples referred for aneuploidy screening
DOPS Analyse results of NIPT
DOPS Prepare a patient report for NIPT
DOPS Prepare a patient report for aneuploidy screening
DOPS Use bioinformatics tools to interpret clinical significance of a prenatal array result
OCE Participate in an MDT meeting with other healthcare professionals
OCE Take a patient history can be undertaken in virtual patient environment
OCE Discuss patient results with a healthcare professional telephone or in person