Competency information
Details
Synthesise and critically analyse literature from reputable sources to compile information on the clinical presentation and course of a range of rare and/or complex inherited diseases and established clinical phenotypes, in readiness for three consultations.
Considerations
- Literature sources for researching the natural history of rare diseases including:
- OMIM
- Orphanet
- Gene Reviews
- expert opinion
- eurogentest;
- PubMed and
- support groups such as Unique etc.
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. |