Clinical Genetics Primer exists to make the genetic basis of inherited conditions understandable without oversimplifying it into something inaccurate. That tension shapes how we write.
Sourcing
We draw primarily from institutional and clinical-genetics references: MedlinePlus Genetics, the NIH Genetic and Rare Diseases Information Center (GARD), the National Organization for Rare Disorders (NORD), Orphanet, NCBI Bookshelf and GeneReviews, and comparable national health-information bodies. We do not rely on a single country's health service as our only source for a claim, since this is meant to be a useful reference regardless of where a reader lives.
Numbers and claims
Every statistic we publish, a prevalence estimate, a percentage of cases caused by a given mechanism, an inheritance-risk figure, traces back to a specific source we checked at the time of writing. When a figure could not be verified against a current source, we describe the point qualitatively ("relatively rare," "most commonly identified in early childhood") instead of printing an invented number. We do not fabricate studies, quotes, or organizations.
Review process
Pages are drafted against the sources above and checked against our own house style before publication: no fabricated facts, no invented named authors or credentials, and a clear "educational, not diagnostic" framing on every condition page. We correct errors when they are reported; see our contact page.
What this site is not
This site does not diagnose, does not replace a conversation with a clinician or genetic counselor, and does not provide individualized medical advice. See our disclaimer for the full scope.