a unifying pathology, atypical response to conventional A genetic diagnosis should be suspected in a patient with any treatment, multiple diagnoses that are seemingly unrelated on of the following: multiple hospital visits and investigations with- personal or family history, an illness in a patient of a different out a unifying pathology, atypical response to conventional demographic than is typic. [...] treatment, multiple diagnoses that are seemingly unrelated on • Diagnosing genetic disease is now more feasible with the personal or family history, an illness in a patient of a different increased availability of publicly funded genetic tests and with demographic than is typical, or a patient lacking the expected front-line clinicians ordering targeted tests, with the support of risk factors for. [...] In all 3 related cases, the patients presented multiple times to • The growing availability of targeted management and therapies the emergency department and other care environments without has added a degree of urgency to create a sustainable framework any unifying pathology.2–4 In 2 of the cases, the patients required of genetic services that better serves patients with undiagnosed hospital admi. [...] the absence of risk factors.4 Atypical imaging or laboratory find- Uncovering the genetic cause of all 3 of the related cases ings and lack of expected pathology further supported the possi- improved management, reduced health care use and provided bility of a unifying genetic diagnosis. [...] important intellectual content, gave final approval of the version Proactive genomic sequencing would have led to a definitive to be published and agreed to be accountable for all aspects of diagnosis in all of the related cases.
- Pages
- 2
- Published in
- Canada
