Minnesota Department of Health adds two more disorder tests to newborn screenings

Minnesota Department of Health adds two more disorder tests to newborn screenings

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The Minnesota Department of Health tests for over 60 different disorders during a newborn screening, and now, two more disorders have been added to the list.

According to the Minnesota Department of Health, Duchenne Muscular Dystrophy is the most common form of Muscular Dystrophy, a genetic condition which gradually makes the body’s muscles weaker.”

“This is a condition where the body isn’t able to create a protein that helps protect muscle. And so, then muscle starts to break down,” said Carrie Wolf, Newborn Screening Director at the Minnesota Department of Health.

Guanidinoacetate Methyltransferase (GAMT) deficiency, is described by the Minnesota Department of Health as, “a genetic disease where the body doesn’t produce enough creatine.”

“This is needed for storing and using energy in the body. And so, if this builds up, it also can cause damage in the brain and in muscles,” said Wolf.

The added tests are aimed at detecting genetic diseases as early as possible, as muscle deterioration can be irreversible if left untreated.

“If they weren’t caught on the newborn screen, once symptoms start to emerge for these two conditions, Duchenne Muscular Dystrophy and GAMT, there’s irreversible damage. You can’t add a drug that will fix the damage that’s been done. And so, the biggest therapy for these conditions is treatment before damage happens,” said Delaney Pease, Genetic Counselor at Aspirus St. Luke’s in Duluth.

Access to treatments also gives more opportunity for less common disorders to be added to newborn screenings.

“These are conditions that are rare. They haven’t been tested routinely in newborn screening mostly across the country, but now states are starting to add these conditions because we have new treatments for them. So, we’re seeing some exciting new drugs, new therapies come out for these conditions. So, states are starting to add these types of conditions to the newborn screen,” said Pease.

Genetic disorders are not always passed down through bloodlines and can appear even when least expected.

“Just because there’s none of these conditions in your family history, doesn’t mean a baby can’t be born with it. These genetic conditions, we think 80 to 90% of babies with one of these rare conditions have no family history. You would never know that your child is at risk for this because your family history is healthy,” said Pease.

That is why it is important to screen newborns early and quickly, to ensure disorders are caught with enough time to treat before symptoms begin.

“You would never be able to predict which babies that’s going to happen to. So, this screening catches all babies because you can never predict who’s going to be affected. It can happen to any baby,” said Pease.