BRANFORD, Conn. (WTNH) – Connecticut mandates that newborns are screened for more than 50 disorders.
But for parents who want to know more, there’s now a screening test available for more than three times as many.
Every caring parent worries about a baby’s health.
Now those who want more insight early on can get it.
There’s a supplemental newborn screening test available, Natalis, developed by Sema4, a Stamford based health information company.
Dr. Eric Schadt is Chief Executive Officer, who said, “Ideally, we really view this as a supplement, a complement to the state mandated screening panels.”
Natalis covers 193 childhood-onset disorders.
“Every one of the diseases that we’ve selected in the Natalis panel can be treated if it’s a disease we discover for a child,” says Dr. Todd Arnold, Chief Laboratory Operations Officer.
This optional comprehensive newborn screening begins at home.
The DNA is collected with a swab of the cheek, then tested in a lab by using advanced sequencing technologies.
Dr. Arnold added, “The sequences are very accurate and each one that we have, have control samples in there, so we can evaluate the efficacy of the run.”
“Think of it as assessing risks,” said Dr. Schadt. “What these 193 disorders have in common is if you carry the mutations that we test for, you are at an exceptionally high risk of developing a disease – over 80 percent.”
It also looks into how well a child will likely respond to medication.
Dr. Schadt explained, “So, it can give clinical guidance to parents and their physicians about whether a child is going to be sensitive to a particular drug or is going to be non-responsive, should be put on an alternative drug.”
This is not for everyone and not without controversy.
Parents order the test online.
The process includes physician and genetic counseling services.
Parents may want to consult with their child’s doctor.
It there is a positive result, the baby’s primary care physician is alerted.
As in any type of testing, you should be prepared to be proactive.
Insurance does not cover the cost of $649.
For more information, log onto https://sema4genomics.com/products/natalis/.