Competency information
Details
Ascertain relevant family history and psychosocial information and contribute to the use of this alongside medical information to determine appropriate genomic testing approaches within MDT settings.
Considerations
- How to ascertain family beliefs, values, dynamics and intentions.
- Appropriate genomic testing strategies applied to a range of genetic conditions (prenatal, paediatric and adult settings, including oncology).
- Ethical challenges relating to establishing a family diagnosis from genomic results.
- How these factors will influence the selection of testing strategies and further studies to support interpretation, e.g. segregation studies.
- Inheritance patterns and the impact of non-penetrance and variable phenotypes.
- Digenic and biallelic inheritance.
- The role of the genetic counsellor and other members of the MDT in communicating uncertain information, variants of uncertain significance and incidental findings.
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. |