The benefits of genomic testing go well beyond a diagnosis, a new Australian Genomics study into people’s perception of value demonstrates.

The paper, published in Genetics in Medicine – the official journal of the American College of Medical Genetics and Genomics, reports the findings of a study into the value Australians place on genomic testing for children with complex neurological conditions of suspected genetic origin.

It is the most recent in a series of studies aiming to understand what characteristics of genomic testing matter to people with lived experience of a genetic condition (here) and how much they matter (here).

This study surveyed 820 Australians to elicit preferences and values for the following characteristics: number of children who receive a genetic diagnosis, chance of improving the process of the child’s medical care, availability of treatments, time until the child does the test, time between test and results, enabling access to other services and professional or peer support, enabling access to clinical trials, and cost of testing.

Participants showed significant preferences across these characteristics. Improving the process of medical care for the child was found to be the most important, followed by availability of treatments and number of children who receive a genetic diagnosis.

The study concluded that society on average would be willing to pay AUD$5,650 for genomic testing in children with complex neurological conditions relative to standard care.

Study lead, Dr Ilias Goranitis (Australian Genomics and The University of Melbourne), said the findings demonstrated the high value that the Australian society places on all health, non-health, and process outcomes of genomic testing.

It is important that decision makers consider all these different outcomes of genomic testing when making funding decisions.”

The paper ‘The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment’, can be accessed here.