Whole Genome Sequencing Reduces Healthcare Costs

Rady’s Children’s Hospital

The European Society of Human Genetics heard about the real world advantages to diagnosis and healthcare costs on Sunday.

Children who are born severely ill, or develop illness in the first few weeks of like, are often among the most difficult cases to diagnose. Whole genome sequencing can have, and already is having, a significant impact in such cases.

Pioneering this work, has been the team at Rady Children’s Institute for Genomic Medicine, in San Diego. In particular their work with Illumina and Edico (now part of Illumina), in driving down the time taken to sequence.

Dr Shareef Nahas, Senior Director of the institute, reported on his team’s study of all inpatient children under one year of age who were nominated for genetic investigation at Rady’s. The report looked at the subsequent changes in care due to diagnosis from whole genome sequencing. An independent panel also reviewed cases to determine what would have happened if the child had not undergone whole genome sequencing.

After 12 months of testing, 363 patients had been enrolled in the study and rWGS (rapid whole-genome sequencing) interpreted in 340 of them. This yielded a diagnosis in 115 cases (about 34%). Diagnosis occurred quickly, on average within 96 hours. Changes in management as a result of diagnosis were identified in 77 patients, or about 67% of those diagnosed. Such changes ranged from specific changes, for example surgical interventions, to guidance in palliative care. Among the first 42 infants diagnosed, rWGS provided over $1.3million in net cost saving over the projected standard care.

“To date, our studies have shown a considerable clinical and economic benefit of sequencing children who were identified by clinicians as being suspected of having a genetic disorder. In the course of the study, one child was spared devastating neurological damage,and one had a significantly reduced risk of death. The net cost savings totalled several hundred thousand dollars, even when we included the cost of analysing the genome of the child and both parents.” Explained Dr Nahas.

It is the economics of whole genome sequencing that are of note here, as there has been little work measuring this directly, “We are now in a situation where we have a technology that leads to improved diagnosis and improved outcomes but is also not a net burden on healthcare resources. This means that for large healthcare payers, there is not a logical cost barrier to implementing rWGS in neonates suspected to have a genetic disorder. There will need to be further data on who else can benefit from early use of this technology but implementation in the current cohort should not be delayed.”

Speaking directly about integration of rapid whole genome sequencing into European healthcare systems, Dr Nahas concluded “There is an ethical imperative to act in the best interest of neonates, but implementation will require a concerted effort across all healthcare systems, and this will need to be at government level in Europe. Consistent with many diagnostic tests in the post-natal period, rWGS has the potential to identify conditions associated with lifelong disability or shortened lifespans.”