The novel program called BeginNGS™ was described in a recent article which has a goal of testing for five hundred disorders and several thousand infants.

Rady Children’s Institute for Genomic Medicine (RCIGM), a nonprofit hospital in San Diego, California, is a 511-bed care facility for children. RCIGM is a pioneer in the use of rapid whole genome sequencing (rWGS) to diagnose and treat genetic diseases in infants with rare and life-threatening disorders. Now the group is moving on to diagnose, screen, and treat conditions before or early into the disease.

Stephen Kingsmore, the president of RCIGM, commented that their aim is to adapt the sequencing of newborns to life-threatening pediatric diseases with established and efficacious treatment.

RCIGM’s ultimate goal is the expansion of these tests to include one thousand genetic disorders while providing rWGS to approximately 3.7 million babies each year.

About rWGS

Simply defined, WGS is a lab test that provides comprehensive data about a person’s genes. The development of “rapid” WGS brought about a method that can determine an organism’s entire genome sequence in two days.

Identifying Potential Treatment

The new program will evaluate the adaptability (scalability) of precision and diagnostic medicine that can screen about 400 genetic diseases which have established treatment options.

Scalability is a health care system’s ability to adapt to the increasing demands of users. Interventions for public health should be developed with scale in mind.

The program is somewhat removed from RCIGM’s standard procedure, using rWGS to diagnose critically ill pediatric patients, as it identifies treatment for those children without symptoms (asymptomatic).

About Genome-to-Treatment (GTRx™)

GTRx is a tool that provides treatment guidelines used in the BeginNGS program to give physicians a better understanding of genetic conditions and treatment options. These options may include surgery, dietary changes, and medical devices, as well as other approved therapeutics.

About the Pilot Program

RCIGM, now in the early stages of its pilot program, is in the process of automating genetic sequencing to meet its first goal of curating a set of four hundred genetic variants for use in detecting disease.

Enrollment for optimization of BeginNGS starts after the test is validated. The genetic disease testing is to take place at rWGS centers. The Blood-spot samples will be collected at the infant’s birth.

BeginNGS is establishing a consortium of advocacy groups and upper echelons in the genomics and biotech fields.

The Goal

The principal goal is to use a proven approach to increase the power of newborn screening programs now in existence at U.S. birthing hospitals. As WGS becomes commonplace, genetic counseling for expectant parents will be crucial.