Competency information
Details
Critically reflect on referral patterns for genetic investigation following standard laboratory practices including sample receipt.
Considerations
- Minimum data set required for identification of samples and the importance of ensuring that this is complete, correct and appropriate.
- Factors affecting sample integrity and appropriate corrective action.
- Procedures for handling samples which may contain category 2, 3, and 4 pathogens.
- Use of laboratory and hospital information systems to identify and record patient demographics, clinical details and relevant laboratory results.
- The importance of maintaining correct and unique labelling, including transfer of labels throughout the preparation.
- Process documentation relevant to sample preparation and its importance.
- Retention policy for diagnostic materials and records of analysis.
- Ethical guidelines for testing and storage of diagnostic materials.
- Common reasons for referral of genetic investigations.
- Factors to be considered to determine which processing pipeline is the most appropriate in order to generate a robust result for the patients.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 | Outcome Observe and reflect on the patient pathway from sample receipt to issuing of the clinical reports for a range of genetic referrals. |
| # 3 | Outcome Apply the correct genetic nomenclature to genetic alterations, including International System for Chromosome Nomenclature (ISCN) and Human Genome Variation Society (HGVS) nomenclature. |
| # 5 | Outcome Apply the principles of internal quality control and external quality assessment and draw conclusions about assay performance. |
| # 7 | Outcome Participate in activities that involve working in partnership with other clinical specialisms in the investigation of patients referred for genetic disorders. |