Editorial policy

Sources

Cases are written from four public databases (Orphanet, the Human Phenotype Ontology, MONDO and GenCC), which are credited on the terms page. From them, a program builds a fact sheet for each disorder, with its findings and how often each one occurs, its genes, its inheritance and its prevalence. Most cases are also drafted from a published case report.

Case reports

From the end of the beta, each case is also drafted from the full text of a de-identified case report published in a medical journal, and open access reports are preferred. Probandle never quotes the report, and a case uses only part of what it says about the patient. A case never includes a photograph, the patient's name or initials, the hospital, a place or a date. The disorder's common findings and the genes known to cause it are taken from the fact sheet, so a case can include a finding the patient in the report did not have, or a genetic result the report does not give. Each difference from the report is written down along with what the report said. The citation of every report is recorded, and you can ask for it at privacy@probandle.com.

The use of AI

Probandle uses AI to turn the case report into six hints, and the fact sheet is then used to make sure the case is representative of the disorder. AI may not add a clinical fact that neither source contains, including a normal test result. The definition on the reveal card is Orphanet's own, quoted word for word.

Checks and review

Before a case is scheduled, a program checks that no hint uses any of the disorder's names and that none of its genes is named before the sixth hint.

Sander Lamballais, who runs Probandle, reads every case before it goes live and decides whether and when it runs. To be approved, a finished case has to pass a second, separate review, and for now he does that review too. During the beta, cases can go live without approval, and none has been approved yet. From the end of the beta, every case has to be approved before it goes live.

Probandle has no clinical reviewer yet. If you work in clinical genetics and want to review cases, email verify@probandle.com.

Corrections

If a case says something wrong, use the report link on its reveal card, which opens an email with the case number already in the subject. If the error is confirmed, the case is corrected and the correction is listed on the corrections page, with what changed and why. The corrected case is on the site by 05:00 Amsterdam time on the day after the fix.

Conflicts of interest

Sander Lamballais runs Probandle in his spare time. It is not a project of any hospital, university, professional society or company, and none of them has reviewed or endorsed its cases. Probandle has no funding and no income.