State by State: Where you live affects newborn screening

Match Day is finally here. For medical students seeking residency and fellowship training positions, this day is the culmination of years of studying and hard work. Match Day reveals so much about the future for students and their partners, from specialties to where they will live.

For medical students looking to start or expand their families, the prospect of moving holds even more uncertainty. This is in part because expecting medical students may receive different kinds of prenatal care and screening depending on where they match. I recently explored a small part of that variability in a research project on the current state of newborn screening in the United States.

Prior to 2005, the diseases a newborn was screened for was completely dependent on where they were born because each state screened for a different panel of diseases. In 2003, 46 states were screening for only six disorders.

This changed for the better when the federal government issued a Recommended Uniform Screening Panel (RUSP), which at the time consisted of 29 core conditions. Although not legally binding, many states incorporated screening for diseases on the RUSP. By 2011, all 50 states were screening for at least 26 core conditions.

But the RUSP continues to be updated on a regular basis as our understanding of previously lethal diseases improves and as new treatments are discovered. As of 2018, the RUSP has grown to include 34 core conditions.

States, however, have not kept pace, and there have been significant delays in adoption of these additions to the RUSP. For example, severe combined immunodeficiency and critical congenital heart disease were added to the RUSP in 2010. However, it took states an average of 3.9 and 3.3 years respectively to adopt these diseases into their newborn screening panels.

This is problematic because, as with many diseases on the RUSP, delays in detection cause significant morbidity and mortality. Why the delay in incorporating new conditions?

First, there is no legal requirement for states to implement screening for diseases placed on the RUSP. Instead, each state individually reviews and passes legislation for each new disease they want to implement on their newborn screening panels.

Second, many states undergo their own independent review of new diseases on the RUSP before implementation, which causes further delays. This is often unnecessary and redundant because the additions to the RUSP are extensively evaluated for practicality and efficacy by the  Advisory Committee on Heritable Disorders in Newborns and Children.

Additionally, some legislators are reluctant to expand newborn screening because they argue that newborn screening is not cost-effective. According to this argument, every new disease added to the screening panel carries with it additional healthcare costs. In my analysis, I found that some of the implementation costs are offset by healthcare savings related to earlier detection. If one considers the morbidity and mortality benefits of screening and the added economic benefits related to that, the cost-benefit ratios are net positive.

Fortunately, some states are taking action to remedy this costly delay. California passed a law in 2016 requiring new diseases on the RUSP to be implemented in the state within two years. Several other states such as Florida and Oregon have passed or are considering similar legislation.

As I watch my classmates buzz with excitement on Match Day, I cannot help but consider my friends and colleagues who are also choosing this time to grow their families. It’s hard to imagine the difficulty of balancing a newborn with medical school, and harder still to imagine uprooting your family to move across the country. As a new parent, there are often many worries. Whether or not your child will get adequate screening should not be one of them.

-By Tony Xu, fourth-year medical student at Baylor College of Medicine

One thought on “State by State: Where you live affects newborn screening

  • This is a great article. Thank you for your insights. I would add that there are pros and cons to the legislation in California. While the quick implementation of new disorders is the obvious plus, the excluding disorders until they are added to the RUSP is the disadvantage. l am surprised to see these states tie their own hands and say they will only do what the federal government advises (and nothing more). The advisory committee that recommends disorders for the RUSP is not perfect. What committee is? The best scenario is a state that is both quick to add disorders that have gone through the process of being added to the RUSP as well as open-minded and ready to add disorders that fit the criteria set by that state, even if that disorder is not yet on RUSP.


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