진단되지 않은 유전 질환이 있는 소아 환자를 식별하기 위한 임상 결정 지원 (SIGHT)

SIGHT predictions will be generated prior to a scheduled encounter in one of the participating study clinics. Patients with a SIGHT probability above a predefined risk level (0.30 predicted risk based on validation and prior chart review by a genetic counselor, Morley et al, 2021 below) will prompt randomization to the standard care or SIGHT-guided intervention arm.

For patients randomized to the SIGHT-guided intervention arm, the clinician responsible for care in that encounter (determined in the usual course of care) will receive a message for that patient and details as to the contributing clinical features that led to the high probability.

The message will include a recommendation, but providers will have full discretion to offer genetic testing or refer to genetics providers. The management of screening will follow standard of care at VUMC.

Among patients surpassing a 0.30 probability threshold that have a scheduled visit to pediatric primary care at VUMC, 500 will be randomized to the intervention and a SIGHT-prompted provider message will be generated.

All remaining patients will be the comparator arm which will be standard of care as to avoid ethical situations of withholding potentially important care.

Number of patients diagnosed via a Chromosomal Microarray.

Duration of time to genetic testing. Time to event, measured from the initial patient visit to the time genetic testing is conducted.

Number of patients flagged by SIGHT who's CMA result returned abnormal but in the absence of diagnostic findings.

Rates of genetic testing ordered by providers after a pediatric visit.

Number of patients flagged by SIGHT who receive a diagnosis via any molecular test.