Targeted syndrom under study

All disorders where a risk issue is identified and managed within Clinical Genetics


We are prospectively logging risk issues that are dealt with by the Clinical Genetics department over a 6 week period. Examples include errors that occur anywhere along patient journey pathway whether through mainstreaming or within the Genetics unit itself eg clinician taking inadequate consent, wrong test ordered, unnecessary duplication of test, laboratory error, mis-interpretation of results, dealing with transcribed reports, poor communication, recurrence of disorder, secondary findings box ticked with evidence of minimal consent. With mainstreaming errors in interpretation of genetic tests are increased. We have adapted our health service risk traffic light system matrix for clinical genetics to standardise assessment and identify specific areas on a patient journey that are high risk. This should help to make mainstreaming safer. Additional aims are to compare services in Ireland to elsewhere in Europe to see if the level of risk differs depending on the support within units and the existence of a national framework for genetic/genomic testing. We also wish to test out our adapted risk assessment tool to see if it is used consistently as a sign of robustness and usability. We plan to make up ~10 mock scenarios with risks included and ask a collaborating centre to score them to see if different clinicians identify the risk and assign it along the patient pathway in the same manner.

Coordinating clinicians/researchers

Sally Ann Lynch –  


Children’s Health Ireland, @ Crumlin, Dublin 12, Rep of Ireland

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: Yes, Adelaide Health Foundation funded research project SA Lynch Principal investigator Genetic Counselling and Testing in the Irish Republic: Scoping current practice, international comparisons and recommendations for national practice