Competency information
Details
Synthesise patient information/medical records with information gained from exome/whole genome analysis to determine diagnosis, penetrance or prognosis for three examples of common and/or rare inherited conditions [phenotype to genotype].
Considerations
- How to recognise important information on the clinical phenotype and family history.
- How to utilise this alongside published medical literature in an MDT setting to inform interpretation of variant pathogenicity.
- Current bioinformatics tools used by clinical scientists in bioinformatics in the interpretation of variants and how this is applied within genetic counselling consultations.
- In silico tools and literature for pathogenicity evaluation, as well as familiarity with the statistical programmes to support this.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 | Outcome Lead, under supervision, complex consultations involving genetic testing in complex scenarios, and consultations involving the use of genomic technologies. |
| # 2 | Outcome Contribute Genetic Counsellor expertise to multidisciplinary teams (MDT) by assimilating knowledge of patient pathways in a range of healthcare settings with genomics expertise. |