Measuring the value of genomic testing
How do you measure the value of a genomic test? It depends who you are, of course. While providing a diagnosis might be paramount for a patient, for a clinician it might be managing the condition. And for a government department it might be cost savings.
Providing evidence of the value of genomic testing for different stakeholder groups remains a challenge to implementing genomics in healthcare. That is why an Australian Genomics project set out to reach consensus on different indicators of value for rare disease genomic testing in Australia.
The findings of the study, Determining priority indicators of utility for genomic testing in rare disease: a Delphi study, are published in the latest issue of the journal, Genetics in Medicine.
The value of diagnostic yield for genomic testing is well known. But many other factors such as family impact, geographic and cultural accessibility, informing reproductive decisions, and its use in clinical management come into play when determining utility.
The study says it is essential that evidence of the broad spectrum of utility is available for the funders of healthcare to make decisions about policy, resource allocation and service planning.
And given the acceleration of genomic testing in rare disease it is essential that the broader aspects of utility are considered and reported consistently.
“Likewise, evidence-based valuation processes such as Health Technology Assessment (HTA) agencies … have highlighted the need to work within a standardized approach so that genomic medicine is not disadvantaged by funding application tools,” the paper says.
Study participants included senior leaders from diagnostic laboratories, clinical genetic services, research and academic institutions, government health departments and consumer advocacy groups.