Competency information
Details
Analyse variants using literature and bioinformatic tools or resources to predict consequence and determine significance within patient care.
Considerations
- The aims and operation of a genetics laboratory service.
- The principal referral reasons that would indicate testing for common genetic conditions.
- Modes of inheritance.
- The clinical and scientific basis for the repertoire of genomic testing available to investigate the common range of clinical referrals.
- The reasons for pathogen samples to be sent to hospital or reference microbiology laboratories for sequencing.
- The role of bioinformatics and the bioinformatician in supporting the laboratory service in the context of clinical diagnosis, the effect of data and its analysis on patient care.
- How to search the literature for information on the consequences of variation in genetic loci of the human genome or the pathogens infecting a host.
- Correct interpretation of the genetics literature on variation.
- Location of resources relating to the consequences of variation including antimicrobial resistance databases.
- How to search variation databases for information on variants.
- Correct application of interpretation tools.
- Correct use of data from databases or interpretation tools.
- Collation of data from different sources on variation consequences to infer potential effects on patient care.
- The influence of user interfaces on results.
- The implications of the genomics investigations (including ethical, legal and social implications) on the patient and patient care.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 | Outcome Select and apply appropriate bioinformatic tools and resources from a core subset to typical diagnostic laboratory cases, contextualised to the scope and practice of a clinical genetics laboratory. |
| # 4 | Outcome Compare major bioinformatics resources or pathogen typing and identification for clinical diagnostics and how their results can be summarised and integrated with other lines of evidence to produce clinically valid reports. |
| # 5 | Outcome Interpret evidence from bioinformatic tools and resources and integrate this into the sum of genetic information for the interpretation and reporting of test results from patients. |