Newborn screenings paved the way for modern genetic testing

How newborn screenings set the stage for the Sanford Chip.

By: Ashley Schwab .

newborn screenings
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Newborn screenings have saved countless lives over the years by providing a means of cost-effectively testing infants for serious conditions before symptoms occur. Now, through the Sanford Chip DNA test, it is possible to cost-effectively screen adults without symptoms for serious genetic conditions as well.

The history of newborn screenings

Soon after birth, all U.S. babies complete a blood-stick spot test to screen for multiple genetic conditions. A great success, newborn screening has prevented complications, and even death, by finding conditions before complications occur.

Sanford Health medical geneticist Laura Davis-Keppen, M.D., says that over 50 years ago, the journey to screen for serious metabolic, genetic and inherited conditions before the start of symptoms began when Robert Guthrie, M.D., developed an effective screening method for phenylketonuria (PKU).

PKU is a rare inherited metabolic disorder that interferes with the breakdown of an amino acid in protein called phenylalanine. It causes toxic accumulation that damages the central nervous system and brain. If not diagnosed immediately, this results in severe intellectual disability. By screening for PKU and placing newborns with PKU on a special diet, they develop healthily.

From origin to across America

“Dr. Guthrie advocated starting newborn screenings because he had a niece with PKU. We could have prevent a serious intellectual disability from PKU for her had a screening been available,” explains Dr. Davis-Keppen.

Dr. Guthrie introduced a process for collecting a blood sample on filter paper and testing for PKU. The first disorder that doctors are routinely screening newborns for is PKU. It is because of its effective treatment and cost effective screening.

The path to consistency

“It was so successful each state chose to screen for PKU,” says Dr. Davis-Keppen. “Still, there was no uniformity in newborn screening tests between states. This took decades. Prior to developing a uniform screening panel for newborns, some states screened for very few conditions, while others screened for as many as 50.”

The American College of Medical Genetics and Genomics (ACMG) stepped in to evaluate genetic and congenital conditions where early diagnosis and treatment before symptoms was lifesaving. The development of a recommended uniform screening panel (RUSP) is being implemented in all states.

“They do not recommend testing for everything if there isn’t a treatment. There has to be a definite benefit to early diagnosis and early treatment prior to symptoms. To add a new condition to the RUSP, one must rigorously evaluate it. It must also include a way to diagnose and treat the condition,” Dr. Davis-Keppen says.

“Now, we screen over 4 million newborns each year. Newborn screenings save and improve the lives of more than 12,000 babies annually.”

A new test to screen adults

Just like newborn screenings half a century ago, advancements in genetic testing are making screening for common and rare conditions more readily available and practical for patients of all ages. The Sanford Chip DNA test is screening for inherited genetic conditions in adults. It is also screening for the best medication for an individuals genetics (pharmacogenetics).

The test is based on ACMG recommendations and looks at genetic predispositions for 59 serious genetic conditions. Each predisposition increases a patient’s risk of developing serious conditions, like hereditary cancers, heart rhythm problems and heart muscle problems.

“It is now possible to cost effectively identify the potential for serious genetic conditions early before symptoms occur. The decision, however, is in the hands of each individual patient,” Dr. Davis-Keppen concludes. “Genetic testing, like the Sanford Chip, can really make a difference.”

The Sanford Chip is a laboratory developed test that doesn’t require approval by the FDA. This test is ordered and the results managed by a Sanford Health physician.