The Middletown Press (Middletown, CT)
Helping parents to know more
Genetic tests offer widening range of info on disorders
Newborns in the U.S. are usually tested for about three dozen diseases. But that number only scratches the surface of potential illnesses, says genomic-testing firm Sema4.
Aiming to fill the gaps between the scope of traditional tests and the thousands of disorders that can afflict young children, Stamford-based Sema4 launched last month an at-home test for nearly 200 conditions that manifest in childhood. The company says the Natalis product is not a luxury, but a vital tool to help parents improve the health of their children, even if they are diagnosed with a rare disease.
“Clearly, the movement is toward the testing of more diseases, with more sophisticated technology,” said Dr. Gerald Rakos, chairman of the pediatrics department of Stamford Health, the system that includes Stamford Hospital. “While this might be offered now as a supplement to standardized testing, a number of years from now, the norm will probably be genetic testing of more diseases than we’re doing now.”
Advanced testing
Newborns in the U.S. are generally screened at the hospital for 34 conditions on the Recommended Uniform Screening Panel. In Connecticut, babies are typically screened for about 60 disorders.
Natalis, which collects a DNA sample through a cheek swab, supplements the RUSP. The 193 conditions for which it screens includes all 34 on the RUSP.
The RUSP “may sound like a lot, but, in truth, it just covers a fraction of the conditions that can present in the first 10 years of a child’s life,” Dr. Joanne Stone, director of maternal fetal medicine for the Mount Sinai Health System, said last week in an interview on Facebook Live.
Last year, Sema4 was spun off from Mount Sinai into an independent company, which is now based in Stamford’s South End.
Sema4 officials said treatments are available for all conditions covered by the test — including atypical epilepsy, spinal muscular atrophy and childhood cancers. Interventions could be as straightforward as a change in diet or vitamin therapy; the latter course of action treats “pyridoxine-dependent” epilepsy.
“If we know we have a genetic predisposition (to a condition), then we can change our diet, we can change our environment,” Dr. Alan Copperman, Sema4’s chief medical officer said in the interview with Stone. “We can hopefully make a tremendous impact on our health.”
Advocates of children with rare conditions also see great promise in tests like Natalis. More than 7,000 rare diseases have been identified, 80 percent of which are caused by genetic variations, according to Global Genes and the Shire Rare Disease Index Report. Together, those diseases affect some 30 million Americans, half of whom are children.
“On average, individuals with a rare disease wait seven to 10 years to obtain an accurate diagnosis, leaving many individuals with chronic conditions still waiting for a diagnosis,” Paul Melmeyer, the National Organization for Rare Disorders’ director of federal policy, wrote in a Jan. 17 letter to the Centers for Medicare and Medicaid Services. “There are millions of patients in the U.S. who are still undiagnosed, and (next-generation sequencing) may be their only hope.”
The test would also still be useful for parents who have undergone “carrier” screenings of their risk for having a child with a genetic disorder, Copperman said.
“Cystic fibrosis is on all the expanded carrier screening panels, and that’s on the Natalis newborn test,” he said. “But most of the diseases on the newborn test are not covered in the expanded carrier screening.”
Every Natalis test also includes a “pharmacogenetic” analysis of how a baby is likely to respond to 38 medications commonly prescribed at an early age. That information can help pediatricians advise on prescription choices.
Parents of children who were not screened as newborns can use the test for youngsters up to 10 years of age, the company said.
Natalis costs $649. Since it is an optional screening, it is an out-ofpocket expense. Sema4 officials said they hope to “build the necessary evidence” for eventual insurance reimbursement.
Demand for screening
Sema4 points to broad interest in testing options such as Natalis.
In a company-commissioned survey of about 2,000 adults last month, 88 percent said that if they were new parents and could find out when their baby was born about their child’s genetic risk of getting a treatable early-onset disease, they would want to know.
“Parents these days really want to take control of the information they can get and really take control of their babies and families,” said Mount Sinai’s Stone.
Administering the Natalis test marks the beginning, rather than the end, of the treatment process for babies who test positive for a condition.
“These are very unusual diseases that nobody really knows anything about,” said Stamford Health’s Rakos.
PWN, an independent network of doctors and genetic counselors, provides counseling on Sema4’s behalf. That advice is incorporated into Natalis’ price tag.
“Genetics counseling is essential for this entire process,” Copperman said. “This shouldn’t be done in a vacuum. There are health professionals that can help guide you.”
Experts also urge parents to set realistic expectations about the impact of tests such as Natalis.
“Sometimes, people get a false sense of security,” said Dr. Katherine Kohari, assistant professor of maternal-fetal medicine in the Yale School of Medicine. “We’re not testing for every possible thing, so you can’t know everything at this stage of the game. But most of these diseases that we are testing for can be treated in some way.”