Purpose
To assess participants’ ability to make an accurate, clear and concise clinical report, appropriate for the range of clinical staff involved in a patient’s care and treatment, given HFE genotype and other relevant clinical information.
Participants are requested to note the EMQN best practice guidelines for the molecular genetic diagnosis of hereditary haemochromatosis (HH), published in 2015 when making their reports.
(https://www.nature.com/articles/ejhg2015128).
Clinical Scenarios
HFE genotype will be provided, together with various pieces of clinical information, on two patients twice a year.
**Note that the Scheme 5B clinical scenarios will be distributed electronically.**
Reporting
Participants are expected to make a report on each of the patient scenarios.
Reports must be written in English and must be identical in format to that used for routine clinical reporting.
Participants are required to return their reports within 4 weeks.
Assessment
For each of the patient scenarios several interpretive criteria expected to be covered by the report, will be identified and agreed by the Expert Advisors. Full or half penalty points may be awarded for interpretive criterion not covered by the report.
| Scoring Procedure | Penalty Points |
| Each feature in agreement with an identified criterion | 0 |
| A principal agreed interpretive criterion not covered by the report | up to 3 |
| Other agreed interpretive criterion not covered by the report | ½ or 1 |
| Significant erroneous patient identifiers or other information errors in the report | ½ or 1 |
**Note: The Expert Advisors determine the ‘principal’ and ‘other’ interpretive criteria.**
Assessment Procedure
Each scenario where 50% or less of the possible penalty points is allocated – Acceptable
Each scenario where more than 50% of the possible penalty points is allocated – Unacceptable
Each scenario not reported – with valid reason – Not Assessed
Each scenario not reported / late submission – Unacceptable
Satisfactory Performance
Satisfactory performance is obtaining 4 ‘Acceptable’ classifications in a year.
**Note: Unsatisfactory Performance Notifications are NOT sent to participants of Interpretive Schemes.**
Information/Analysis Provided to Participants
- Each laboratory will receive an itemisation of interpretive points applicable to each clinical scenario indicating how their report coincided with the criteria identified.
- A summary of all participants’ scores.
- General comments from the Expert Advisors on each scenario.
Scheme 5B Results Summaries (General Comments):
Results summaries and general comments from previous years are available by contacting us below
Request Older Scheme 5B Summaries