Fore Genomics has launched its FORESITE 360 whole genome sequencing (WGS) service, which provides a complete DNA map of newborns, infants, and children using an at-home collection kit. The company says FORESITE 360 reveals genetically linked and clinically manageable diseases a baby or child might have now or could develop later—through age 18. The testing also predicts how the patient may respond to common medications. The service is not covered by insurance, and is pricey, but Fore offers financing.
Pediatric genetics specialists have long advocated for WGS for newborns with undiagnosed conditions, but cost and ethics concerns have held the field back. Sequencing technology is now being applied, in selected settings, to both diagnose unknown conditions in newborns and to screen healthy babies. Fore’s service offers parents the opportunity to access WGS even before they know they need it. The non-invasive prenatal testing market is estimated to be worth over $5B and expected to quadruple over the next few years. It’s likely that demand for neonatal and child genetic testing will also be substantial.
One of the pioneers in using WGS in newborns is Rady Children’s Institute for Genomic Medicine in California. “Thirty-one published studies have shown that genome sequencing of newborns with severe illnesses leads to diagnosis of underpinning genetic diseases in 36%, changes in how those babies are treated in 27%, and changes in outcomes in 18%,” Rady’s president and CEO Stephen Kingsmore told Inside Precision Medicine in an earlier report.
In the U.K., meanwhile, Genomics England is in the first stages of its Newborn Genomes Programme. This project, which started recruiting this year, aims to sequence up to 200,000 healthy newborns to assess the feasibility of a larger roll out across the country’s National Health Service (NHS) in the future.
Through the FORESITE 360 service, a saliva sample is sent to Fore’s processing labs to be sequenced and screened against 300+ genetically linked and manageable diseases and 40 medication types. The parents and family physician receive a clinical report with any findings to review 1:1 with a personal genetic counselor. FORESITE 360, the company says, is more comprehensive than standard newborn screening because it uses whole genome sequencing. In addition the company will provide on-going age-relevant guidance including new insights from genomics.
Popular non-clinical DNA tests, such as those from 23andMe and Ancestry, use only a portion of the subject’s DNA. FORESITE 360 uses WGS and a parent-initiated telemedicine platform. The service is physician-ordered with clinical reporting, but can be purchased online.
Basic newborn screening varies from state to state and consists of screening for a few dozen conditions that would be best to know early in life to improve health outcomes, widely considered one of the most successful public health programs in U.S. history, newborn screening is generally free, but limited in scope.