March 9, 2018
More than nine out of ten Americans (92%) believe that parents of newborns should be able to find out about their infants’ risk factors for treatable early onset disorders—which typically manifest during the first ten years of life— based on findings of a poll of 2,000 adults nationwide by Sema4, a health information company that offers genetic testing.
The study—conducted on behalf of Sema4 by The Harris Poll—established that 88% of Americans believe that, if they were new parents and could find out just after their baby’s birth about his or her genetic risk factors, they would want to know.
The results of the poll were announced on February 28, Rare Disease Day, an international day of awareness that shines a light on such illnesses and the ways in which they affect patients’ lives.
These diseases collectively affect 30 million Americans, half of whom are children. Today, it takes most rare disease patients an average of 8 years to obtain an accurate diagnosis.
While most rare diseases still have no FDA-approved treatment, some genetic diseases have known effective treatments, especially when administered early. These can be as simple as a change in diet or vitamin therapy, as is the case in pyridoxine-dependent epilepsy, which is treatable with a form of vitamin B6. Such a life-saving and simple intervention for this rare form of epilepsy was dramatically illustrated in a recent case at Rady Children’s Hospital in San Diego.
In the United States, newborns typically are screened at the hospital for 34 health conditions on the Recommended Uniform Screening Panel (RUSP), but the conditions screened vary by state and represent only a fraction of the genetic diseases that can manifest in a child’s first decade of life. Pyridoxine-dependent epilepsy, for example, is not currently on any state panel.
“In my practice, I find that parents generally want as much information as possible related to the health of their babies, and access to genomic data now opens up a whole new era,” said Dr. Joanne Stone, Director of Maternal Fetal Medicine for the Mount Sinai Health System, and Professor of Obstetrics, Gynecology and Reproductive Science at the Icahn School of Medicine at Mount Sinai.
“When accompanied by appropriate genetic counseling,” stone added, “high-quality DNA testing can provide valuable, actionable insights and help guide decision-making as part of the parental journey, from pre-conception carrier screening to expanded screening for newborns. In general, we are finding that interest is growing among parents in taking more control of the health of their family.”
Sema4 Natalis, an at-home screening test, provides early insights into more than five times the number of genetic diseases on a standard state-mandated test, as well as the potential for adverse reactions to medications commonly prescribed during childhood.
Research contact: Nicole@Bioscribe.com