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
- The principal referral reasons that would indicate testing for common genetic
- Modes of
- The clinical and scientific basis for the repertoire of genomic testing available to investigate the common range of clinical
- 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
- How to search the literature for information on the consequences of variation.
- Correct interpretation of the genetics literature on
- Location of resources relating to the consequences of
- How to search variation databases for information on
- Correct application of interpretation
- Correct use of data from databases or interpretation
- Collation of data from different sources on variation consequences to infer potential effects on patient
- The influence of user interfaces on
- 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 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. |