Woman in white coat and protective equipment works in lab
A researcher works in the Advanced Precision Medicine Lab at The Jackson Laboratory. Credit: Contributed photo / The Jackson Laboratory

Researchers at The Jackson Laboratory recently announced a test that they say can help patients struggling with a rare disease find answers sooner while saving money on healthcare costs.

The JAX genome test is the only clinical whole genome sequencing test offered in Connecticut, JAX representatives said. 

“It’s a comprehensive test. We are going to look at the entire genome, the whole genome, to really try to find the things that were missed by other technologies before,” Melissa Kelly, clinical laboratory director at JAX, said. 

Kelly said that the test can be accessed through a doctor’s order. Blood is drawn, the DNA is extracted, and then the sequencing of the genome is performed and analyzed. A final clinical report is issued within 6-8 weeks. 

A rapid test is available through which results will be turned around faster in critical situations. The test is being offered by the Advanced Precision Medicine Laboratory (APML) at The Jackson Laboratory for Genomic Medicine (JAX) in Farmington.

Ideally, the whole genome sequencing test would replace other panels and exome sequencing, which is also a type of genetic sequencing used to figure out what may be causing symptoms or a disease, Kelly said. 

“We know it’s comprehensive, and it’s going to have the best chance of finding the answer for the patients and, as the cost of the test comes down, it makes more and more sense to start with that as your first tier test,” she said. 

Unfortunately, at this time, whole genome sequencing is not typically covered by insurance. 

Some states, however, have funded projects to conduct whole genome sequencing on high-risk infants. 

In 2018, the state of California launched a pilot program called Project Baby Bear, which examined the benefits of rapid whole-genome sequencing. 

Through the program, 178 critically-ill babies eligible for Medi-Cal (California’s Medicaid program) were sequenced, which provided doctors and families with “vital diagnostic information that empowered them to make life-altering medical decisions resulting in shorter hospital stays, fewer invasive procedures and targeted personalized care,” according to the Rady Children’s Institute for Genomic Medicine.

Kelly said organizations like the American College of Medical Genetics and Genomics are pushing to get insurance companies to cover genome sequencing.

While a doctor’s order is needed to get the test at JAX, if someone doesn’t have a physician, they can reach out to JAX to see if they can help the patient navigate the process, Kelly said.

Whole genome sequencing is well suited to helping with congenital anomaly syndromes including children born with multiple organ issues or dysmorphic features.

“This is going to give patients answers faster and for the healthcare side, it is going to save them money,” Kelly said. “Because the sooner you can find the answers – you know you can treat it or you can’t, you can change your management, target it toward that disease versus what’s called this diagnostic odyssey where there’s test after test after test,” Kelly said.

This sort of testing can also help improve a patient’s quality of life. 

Mark Adams Ph.D. of The Jackson Laboratory
Mark Adams Ph.D. of The Jackson Laboratory Credit: Contributed photo / The Jackson Laboratory

“I’ve seen families who have had full genome sequencing done and even when the news is not good, as in the diagnosis is going to result with them passing away at a young age, the families are just so thankful to have the answers and to know how to move forward with their child,” Kelly said.

Mark Adams, Ph.D., professor and deputy director at JAX Genomic Medicine, said he hopes the test will make a positive impact.

“Being local here with CT Children’s and other hospitals, I hope will provide an opportunity to serve the people of Connecticut better than without having this test available,” he said.

For more information about the JAX Genome test, please contact CGL_CS@jax.org.