Genetics rotation – online resources for STP Reproductive Science trainees

These useful resources are for rotational training in year 1 of the STP Reproductive Science (Embryology or Andrology).

resources

Module details

Module title: SLS402 Genetics, Genomics and Molecular Science

Aim: This module will provide the trainee with an introduction to human genetics, genomics and molecular science. They will understand the organisation and delivery of a genetics laboratory service. They will perform some common methods used in genetics and genomics and gain an understanding of the interpretation of patient results in a variety of clinical settings.

Scope: The investigation, interpretation and reporting of chromosomal abnormalities and molecular disease, using the correct sampling and laboratory techniques, including the application of principles of quality control and the use of IT systems.

Learning outcomes

On successful completion of this module the trainee will:

  • Observe and reflect on the patient pathway from sample receipt to issuing of the clinical reports for a range of genetic referrals.
  • Observe and reflect on preparation of samples for genetic analysis in current use.
  • Apply the correct genetic nomenclature to genetic alteration, including International System for Chromosome Nomenclature (ISCN) and Human Genome Variation Society (HGVS) nomenclature.
  • Identify the appropriate testing strategy for a range of referral reasons.
  • Apply the principles of internal quality control and external quality assessment and draw conclusions about assay performance.
  • Assist with the interpretation and reporting of laboratory results in the context of named genetic disorders.
  • Participate in activities that involve working in partnership with other clinical specialisms in the investigation of patients referred for genetic disorders.

Resources for self-directed learning

external
text

Suggestions for self-directed learning

Module title Competence title Knowledge and skills Suggestions
SLS402

Genetics Genomics and Molecular Science

Competency 1

Apply infection control risks in accordance with departmental protocols. Curriculum Library competency details Self-directed learning; understand differences and similarities with RS.
SLS402

Genetics Genomics and Molecular Science

Competency 2

Minimise risks and hazards in compliance with health and safety policies. Curriculum Library competency details Self-directed learning; understand differences and similarities with RS.
SLS402

Genetics Genomics and Molecular Science

Competency 3

Critically reflect on referral patterns for genetic investigation following standard laboratory practices including sample receipt. Curriculum Library competency details Describe how to receive, prepare and process samples and maintenance of integrity and traceability.

Examples from RS could include:

How to investigate individuals with severe male factor infertility and the implication for fertility treatment indications for use of karyotyping in fertility investigations.

Describe indications for PGD / PGS to include sampling techniques such as cleavage stage / TE / polar body biopsy. Evaluate the pros and cons of techniques and how ISCN is used.

Describe the patient pathway for individuals with a known genetic condition and the choices that could be available.

Understand importance of genetic counselling. Explore use of genetic testing for donors including the common genetic conditions related to ethnicity.

The use of genetic testing in pregnancy.

Visit a Genetics laboratory e.g. NHS department, private provider (The Doctor’s Laboratory, Coopers Genomics)

SLS402

Genetics Genomics and Molecular Science

Competency 4

Observe and assist with the preparation of samples for genetic testing. Curriculum Library competency details Self-directed learning.

Culture techniques required for embryo biopsy cases.

Different biopsy techniques and tubing. Written evidence to explain how slide making and G- Band staining is used.

Cell culture in the genetics laboratory. Visit embryo biopsy laboratory.

Visit genetics laboratory providing analysis services for embryo biopsies.

Use online videos to demonstrate understanding in practical aspects of the technique. Describe how DNA is extracted.

Consider the importance of accuracy and the advantages of different methods.

SLS402

Genetics Genomics and Molecular Science

Competency 5

Perform a basic chromosome analysis on a minimum of three cases that demonstrate different chromosomal syndromes or anomalies. Curriculum Library competency details Self-directed learning.

Use karyotyping images to show abnormal and normal karyotypes.

Consider 3 circumstances where karyotyping is appropriate – for instance: Donor screening Recurrent miscarriage Turner Syndrome.

SLS402

Genetics Genomics and Molecular Science

Competency 6

Perform a basic dosage analysis using chromosomal microarray. Curriculum Library competency details Self-directed learning e.g. CGH for PGT for aneuploidy.

Aspects of copy number variation that may influence or be associated with infertility.

SLS402

Genetics Genomics and Molecular Science

Competency 7

Observe and assist with the range of laboratory methods and their application to generate genetic test results for patients. Curriculum Library competency details Self-directed learning; PGD and PGS: the methods for testing (FISH, PCR, CGH, SNP, NGS).

Techniques used to biopsy for PGS / PGD QA/QC for the tests, clinical application and interpretation of the information obtained from embryo biopsy.

SLS402

Genetics Genomics and Molecular Science

Competency 8

Perform a basic molecular analysis on three cases demonstrating common genetic condition Curriculum Library competency details Self-directed learning.

Select 3 conditions from HFEA list of disorders that are authorised for PGD and match to the required knowledge and understanding.

Describe what is happening at the molecular level to cause the disease state, for example what kind of mutations, at what chromosomal locations can cause genetic disorders. Apply correct nomenclature.

Describe and consider how Huntington’s is tested for if patients do not wish to find out their own status.

SLS402

Genetics Genomics and Molecular Science

Competency 9

Apply internal quality control (IQC) and external quality assessment.

(EQA) methods used in genetics.

Curriculum Library competency details Combine with considerations for the testing strategies above.

Describe the relevant NEQAS schemes and the importance of QA/QC.

Describe how the Quality Management System is integrated into genetic testing lab – compare and contrast with Reproductive Science.

Consider the implications of false negative / positive results and how these can arise.

SLS402

Genetics Genomics and Molecular Science

Competency 10

Use software for tasks related to genetic analysis. To include a general introduction to bioinformatics. Curriculum Library competency details Self-directed learning: look at these free courses, select and follow one. Write a brief reflection on the relevance to and implications for Reproductive Medicine.

Clinical Bioinformatics: Unlocking Genomics in Healthcare

Genomics in Healthcare

Whole Genome Sequencing: Decoding the Language of Life and Health

The Genomics Era: the Future of Genetics in Medicine

SLS402

Genetics Genomics and Molecular Science

Competency 11

Support the preparation of reports and the reporting process for patients being investigated for genetic disorders. Curriculum Library competency details Describe how results are reported. Demonstrate interpretation of results.

Consider affected / carrier embryos and rationale behind selecting for transfer.

Describe the patient care pathway, including genetic counselling and implications for the wider family.