Today, 80% of people in the United States have access to whole-exome sequencing (WES), often as a second-line test, when traditional chromosomal microarray or other targeted tests have not led to a diagnosis for a patient. As payers review recent publications outlining the evidence of WGS superiority on the clinical and economic value, it becomes evident that the most efficient testing pathway to end – or better to prevent – a diagnostic odyssey for their beneficiaries is WGS access (first line in many policies). Towards this direction payers have started to offer beneficiaries access to first line WGS in patients with suspected complex genetic disease (e.g. neurodevelopmental delays) presented in the ambulatory setting, independent of age.

Currently there are 7 commercial payers and 26 Medicaid State plans who cover WGS in ambulatory settings, covering approximately 65M lives in the US*. In other words, 1 in 4 covered lives can access WGS (Medicaid: 29% vs. Commercial: 23%).

*as of June 2023. Data on file.

In 2023, two of the largest commercial payers that cover ~40M lives collectively, offer WGS to patients that fit certain inclusion criteria. At last, WGS is becoming more accessible.

Coverage for rapid WGS in acute settings, such as the Neonatal Intensive Care Unit (NICU) and Pediatric ICU (PICU), is emerging as the clinical and economic value of the test build evidence across studies. Several children’s hospitals across the United States have participated in research studies to demonstrate how implementing rapid WGS in their NICU/PICUs improved outcomes including time to diagnosis, diagnostic yield, and subsequent changes to patient management.

California Blue Shield was the first major payer to issue a coverage policy for rapid, diagnostic WGS in NICU infants and trios in July 2019. Fast-forwarding to 2023, 50M covered lives (~1 in 5 total covered lives) can access WGS in acute settings (Medicaid: 30% vs. Commercial: 15%).

*as of June 2023. Data on file.

Project Baby Bear found that WGS can reduce healthcare expenditures by avoiding unnecessary procedures/tests and reducing the infant’s the length of stay in the NICU. The study yielded an average of $13,526 savings per infant tested, creating an economic model where the savings support the cost of running WGS. Therefore, apart from patient coverage/ DRG payment, first line WGS can be made accessible and serve critically ill infants without incurring additional economic burden. The study, amongst others, also support the use of rapid WGS, where the results can be integrated into care earlier, with measured benefits. Advances in technology and care coordination have made the future promise of rapid WGS in the NICU an achievable goal.