Ensuring clinical validity - modernising genetic testing services

Genomic testing using gene panels and whole-exome sequence data are becoming increasingly attractive options to support the clinical management of patients. Whole-exome sequencing to diagnose rare genetic disorders in paediatrics offers a cost-effective and efficient first screen for cases where there is no obvious clinical diagnosis, thus fundamentally shifting medical service provision paradigms. In other areas of medicine, the implementation of targeted gene panels using next generation sequencing is associated with improved diagnosis rate and faster time to diagnosis. Successful integration of genomic testing into the patient management pathway requires updating of the traditional models of test provision. Important factors to be considered include: who should qualify for what genomic test, payment for testing, the appropriate referral mechanism, and how to effectively communicate the results and limitations of genomic tests to patients and clinicians. We discuss strategies and give examples from implementing gene panels and whole-exome sequencing in clinical diagnostics to support the management of patients in South Australia. The next few years are likely to be an exciting and challenging time in genomic test provision in Australia, as these new platforms establish themselves as part of routine medical care and different stakeholders (local, international, direct-to-consumer) define their share of the clinical sequencing market.