Results presented at the annual conference of the European Society of Human Genetics has shown how whole genome sequencing (WGS) improves rare disease diagnosis in pediatric patients on a national scale. Serious illnesses that develop in the first few weeks of life can be difficult to diagnose yet often have serious implications for short- and long-term care. When used quickly, WGS can help deliver an accurate diagnosis and lead to better clinical care.
In the study, ultrarapid WGS was carried out nationwide in 290 critically ill pediatric patients with the aim of providing a diagnosis in less than five days. In an average of three days, 136 of the patients received a diagnosis thanks to the ultrarapid WGS. A further 20 diagnoses were achieved using functional assays and RNA sequencing. In a recent press release, the researchers said that they hoped the current program could be an example of how genomics can improve diagnostic outcomes.
While there are still limitations in cost, the use of genomic testing should yield savings to health care systems in the long term. There are also ethical questions around consent that need to be considered, however, in a recent press release, professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetics Services and Australian Genomics, said that the evidence supporting the diagnostic, clinical, and family benefits for genomic testing in pediatric patients is overwhelming.