Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia

Abstract

Rapid genomic testing in critically ill children is becoming the standard of care where there is a high suspicion of an underlying genetic condition and should be provided equitably for all patients in acute care settings. The HGSA encourages an appropriately resourced multidisciplinary team approach, particularly involving genetic health professionals, wherever practicable in the delivery of rapid genomic testing services. Pre-test genetic counselling should be tailored to the family and followup appointments should be offered. Explicit informed consent for rapid genomic testing should be obtained, even in acute care settings. Rapid genomic testing should be delivered with as fast a turnaround time as possible. Laboratories should use genome, rather than exome, sequencing wherever possible. Incidental, secondary findings, and variants of uncertain significance should be reported judiciously. While we recommend the trio approach in this setting, infants or children should not be excluded from rapid genomic testing programmes if one or both biological parents are unavailable.

Fig. 1. A decision tree for ordering rapid genomic testing in the acute care setting.

The decision tree considers 1. the pre-test probability of a disorder, as well as 2. clinical and family utility. VACTERL/VATER: vertebral, anorectal, cardiac, trachea-(o)esophageal, renal, limb anomalies.