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The National Expansion of Newborn Screening Tests for Leukodystrophies

Policy Memo by Yug Yadava

Executive Summary

When a child is born at a hospital in the United States, he or she is tested for genetic, inherited, heart, and hearing disorders which are termed newborn screening tests (NBS). Although this public health initiative has had its success, not all children get tested equally due  to NBS tests being state regulated.  Leukodystrophy, a group of genetic disorders that cause damage to white matter of the central nervous system, are impacted by this disparity in screening. There are three leukodystrophies which can be tested through NBS, but are not included in every state’s program: Adrenoleukodystrophy (ALD), Krabbe disease, and Metachromatic Leukodystrophy (MLD). Although ALD is included in the national Recommended Uniform Screening Panel (RUSP), Krabbe’s disease and MLD are not. To make sure these three leukodystrophies are tested in every state, it is recommended Krabbe disease and MLD get added to RUSP as core conditions.

Children with leukodystrophies only live 10-20 years past the onset of symptoms.

If early testing from NBS can detect one of the three leukodystrophies, early intervention can add on a decade of life for a child. The policy memo in questions discusses the equality in testing for three types of leukodystrophies.

Introduction 

When a child is born in a hospital in the United States, they are tested for genetic, inherited, heart, and hearing disorders. These tests are termed newborn screening tests (NBS) and occur after the first 24 hours of birth (Cellucci, 2022). If a child tests positive, the hospital or healthcare provider contacts the parents and refers them to a specialist or for further testing to confirm the results (Garganta et al., 2021). Although this public health initiative has had its success, not all children get tested equally. Kansas tests for 30 conditions, the least out of the fifty states, while Connecticut tests for the most at 74 tests.  (Health Resources & Services Administration, 2023) (Figure 1). This is because each state is responsible for deciding which genetic diseases to test for and how to fund them, leading to variability in screening across the United States (Anderson et al., 2011) (NICHD, 2017). The result is that children experience disparity in their healthcare from birth. One disparity comes from a specific group of disorders called leukodystrophy.

Figure 1: Map of the number of genetic diseases that each state tests for as of March of 2023 from the Health Resources & Services Administration.

Leukodystrophy is a group of genetic disorders that cause damage to white matter of the central nervous system (NINDS, 2023). The disease usually affects myelin, a coating that insulates nerves and helps send signals to other parts of the body. Leukodystrophy occurs in roughly 1 in 4,700 births and is diagnosed by a series of genetic, MRI, and neuropsychological testing (Bonkowsky et al., 2021). There is currently no cure for leukodystrophies and treatments are limited. The life expectancy of a child diagnosed with leukodystrophy is, on average, 10-20 years from the start of symptoms (ArchAngel, 2023). This puts an enormous amount of stress on parents, with one study reporting 20% of parents experience high levels of stress and 11% experienced clinically significant, high levels of stress (Dermer et al., 2020).

Of the different kinds of leukodystrophies, there are three that largely impact pediatric patients. These are Adrenoleukodystrophy (ALD), Krabbe disease, and Metachromatic Leukodystrophy (MLD) (CHOP, 2016). As mentioned previously, some states test for the three leukodystrophies while others do not, therefore contributing to the disparity of healthcare between states. The main downside of living in a state that does not test for leukodystrophy is a delay in diagnosis and treatment, which has rippling effects on finances and the healthspan of a child.

Current Policy on NBS for ALD, Krabbe Disease, and MLD

There are several avenues to add new conditions on each state’s newborn screening panel. While some states require a law to pass for a condition to be added, others leave the decision to their Department of Health and Human Services (LDNBS, 2020). In addition, certain states also have NBS advisory boards, a rare disease caucus in the state legislature, and a rare disease advisory council to consult which conditions are included or excluded from their NBS program.

Although there is NBS testing done in the United States territories, the Leukodystrophy Newborn Screening Action Network only focuses on the fifty states. For ALD, only 14 states in the Union do not test for it, while the remaining 36 states do (LDNBS, 2020). For Krabbe’s disease, 11 states actively screen for it, 3 states are implementing the disease into their NBS, and 36 states do not test for it  (LDNBS, 2020). For MLD, the state of New York is doing a pilot screening program, the state of Illinois is currently trying to implement MLD into its NBS program, and the other 48 states do not test for it  (LDNBS, 2020).

There are ways to close the disparity gap so that children have an equal chance at life.

Based on the current policies, there is disparity among the states as to which leukodystrophy types are tested. This difference can have huge implications for children and their families including treatment cost, time, and the overall life expectancy of their newly diagnosed child. Newborn screening tests can be a major factor into how long a child is able to survive as early treatment can slow disease progression (CHOP, 2016). There are ways to close the disparity gap so that children have an equal chance at life.

Policy Recommendations 

State by State Advocacy 

The newborn screening program is individualized by each state. This means that fees and the services received by a state’s NBS vary drastically throughout the nation (NewSTEPs, 2023). Since there are also differences as to how each state adds on disorders to their NBS panel, a variety of state by state advocacy is needed. Certain communities—such as doctors, parents, etc—will need to come together and advocate to their local representative or state health commission about the importance of including leukodystrophies on the NBS panel and think of unique arguments to present this case. An example is citing the U.S. constitution’s declaration of the natural right to have an equal life. By doing state by state advocacy, states will retain their independence while also leading people to develop a model act—a proposed law where states can enact or make modifications to it—leading to the approval of leukodystrophy testing in several states without federal intervention (Barmakian, 2023). However, this is not a guarantee and it could take years for even a pilot program to be launched.

Adding to the National Standard 

There is a national standard that is recommended for NBS that all states follow, called the Recommended Uniform Screening Panel (RUSP). Currently, RUSP is divided into two divisions: core conditions and secondary diseases; 35 core diseases and 26 secondary diseases are included., bringing the total to 61 diseases. In terms of Leukodystrophies, only Adrenoleukodystrophy is a core condition; Krabbe’s Disease and Metachromatic Leukodystrophy are not listed in either division. (Health Resources & Services Administration, 2023). It is highly recommended that Krabbe’s Disease and MLD get added to the RUSP as core conditions. By doing so, states that have laws in place to add conditions to their NBS once a condition is added to the RUSP will test for Leukodystrophies. An example is New Jersey’s trigger law—a law that goes into effect once a significant event occurs—for Mucopolysaccharidosis type II (MPS II). The trigger law will add MPS II to their NBS since the genetic disorder was added to the RUSP in 2022. Even for states without such laws in place, these additions can serve as pressure for the state to adhere to new national guidelines and benefit the lives of children within their borders. However, it is worth noting that this may not be effective as not all states have even added the 35 core diseases to their NBS, let alone all 61 RUSP diseases.

A Federal Law 

Federal laws apply to all in the country. Through a federal law, children can get tested for all three leukodystrophies. It would greatly reduce the overall time it would take for each state to individually add the three leukodystrophies onto their NBS and keep consistency between all states. Even more so, bringing this to the national level will bring much more awareness about NBS and leukodystrophies, leading to more advocacy to add other types of leukodystrophies—for example, Alexander’s Disease—on each state’s NBS. However, if a federal law is passed, there will be questions raised as to who will be funding and administering the tests since NBS is a state level program. The cost and the bureaucracy involved will no doubt lead to problems down the road if more conditions want to be added with a federal law.

Inaction and Recommendation  

The lifetime expectancy for someone with ALD, Krabbe’s Disease, or MLD is 10-20 years from the onset of symptoms,  on average (ArchAngel, 2023). Treatments are limited, but can slow down the progression of leukodystrophies; in other words, early intervention can maximize a child’s time on Earth. State by state advocacy is currently in the works, but it takes years for certain concepts to be launched as a pilot program. A national law may bring equality for all children, but the looming debate about cost and bureaucracy might hinder future efforts for other genetic diseases or types of leukodystrophies. For the sake of children with leukodystrophies, action is required and highly contested debates will only delay change. Adding Krabbe’s Disease and MLD to the RUSP as core conditions is the best solution to get more babies tested for leukodystrophies. The addition of Krabbe’s Disease and MLD to the RUSP allows states to avoid federal government intervention while also putting pressure to adhere to guidelines. Delays in adding these to NBS may result in medical bill debt, unhealthy levels of stress for parents and worst of all, limiting a child’s life to only just a few years.

Conclusion 

Adding Krabbe’s Disease and MLD to the RUSP is the recommendation from the three policies listed. By adding the conditions to the RUSP, it will enact trigger laws in some states to add the condition to their NBS. It will also bring about pressure for states to adhere to the national guidelines and may also allow for more of the American public to be aware of the RUSP conditions so that they may advocate for leukodystrophies to be added within their respective area. The opportunity to greatly benefit the lives of American children is upon us. If early testing from NBS can detect one of the three leukodystrophies, early intervention can add ten or more years to a child’s lifetime and can lead to future advancements to find a cure for leukodystrophy.

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Written by Yug Yadava
Edited by Caitlin Goodpaster and Anastasiia Gryshyna

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References 

Anderson, R., Rothwell, E., & Botkin, J. R. (2011). Newborn screening: ethical, legal, and social implications. Annual Review Of Nursing Research, 29, 113–132. https://doi.org/10.1891/0739-6686.29.113

Barmakian, D. (2023, June 12). Research guides: Uniform laws and model acts: Home. Home – Uniform Laws and Model Acts – Research Guides at Harvard Library. https://guides.library.harvard.edu/law/unifmodelacts#:~:text=Uniform%20Laws%20are%20carefully%20drafted,or%20enact%20them%20with%20modifications.

Bonkowsky, J. L., Keller, S., & AAP Section on Neurology, Council on Genetics (2021). Leukodystrophies in Children: Diagnosis, Care, and Treatment. Pediatrics, 148(3), e2021053126. https://doi.org/10.1542/peds.2021-053126

Cellucci, M. F. (Ed.). (2022, July). Newborn screening tests (for parents) – nemours kidshealth. KidsHealth. Retrieved May 5, 2023, from https://kidshealth.org/en/parents/newborn-screening-tests.html#catdrugs

Dermer, E., Spahr, A., Tran, L. T., Mirchi, A., Pelletier, F., Guerrero, K., Ahmed, S., Brais, B., Braverman, N., Buhas, D., Chandratre, S., Chenier, S., Chrestian, N., Desmeules, M., Dilenge, M. E., Laflamme, J., Larbrisseau, A., Legault, G., Lim, K. Y., Maftei, C., … Bernard, G. (2020). Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study. Journal of child neurology, 35(13), 901–907. https://doi.org/10.1177/0883073820938645

Garganta CL, Rasmussen SA, Thompson LA. Newborn screening—what parents need to know about their infant’s first tests. JAMA Pediatrics. 2021;175(9):984. doi:10.1001/jamapediatrics.2021.1519

Health Resources & Services Administration. (2023). Newborn screening in your state. Newborn Screening in Your State | Newborn Screening. Retrieved May 5, 2023, from https://newbornscreening.hrsa.gov/your-state

NewSTEPs. (2023). State Profiles: Newsteps. APHL. Retrieved May 5, 2023, from https://www.newsteps.org/data-resources/state-profiles?q=view-state-profile

National Institute of Child Health and Human Development (NICHD). (2017). Who pays for newborn screening? Eunice Kennedy Shriver National Institute of Child Health and Human Development. Retrieved May 5, 2023, from https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/how-used/pays#:~:text=Birthing%20centers%20and%20hospitals%20sometimes,the%20fees%20for%20newborn%20screening.

ArchAngel. (2023). Archangel MLD trust: About MLD. About MLD | ArchAngel MLD Trust. https://www.archangel.org.uk/about-mld

Children’s Hospital of Philadelphia, (CHOP). (2016, June 15). Leukodystrophy. Children’s Hospital of Philadelphia. https://www.chop.edu/conditions-diseases/leukodystrophy#:~:text=Some%20leukodystrophies%20such%20as%20Krabb%C3%A9,your%20child%27s%20newborn%20screening%20results

Leukodystrophy Newborn Screening, (LDNBS). (2020). Newborn screening. Leukodystrophy Newborn Screening – Action Network. https://ldnbs.org/newborn-screening/

National Institute of Neurological Disorders and Stroke, (NINDS). (2023). Leukodystrophy. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health-information/disorders/leukodystrophy

 

Author

  • Yug Yadava

    Yug is a final year undergraduate at Rowan University getting his B.S. in Biological Sciences with a certificate in Public Policy. His main passions are neurology and pediatric health. He has conducted research on pediatric multiple sclerosis and pediatric neurosurgery techniques on hydrocephalus. He has also written policy memos and articles in regards to pediatric public health. Yug is also serving as the Co-Director of Outreach and Research at SimplyNeuroscience. Yug hopes to go into pediatric neuro-immunology and work with government officials to expands access to pediatric health in the near future.

Yug Yadava

Yug is a final year undergraduate at Rowan University getting his B.S. in Biological Sciences with a certificate in Public Policy. His main passions are neurology and pediatric health. He has conducted research on pediatric multiple sclerosis and pediatric neurosurgery techniques on hydrocephalus. He has also written policy memos and articles in regards to pediatric public health. Yug is also serving as the Co-Director of Outreach and Research at SimplyNeuroscience. Yug hopes to go into pediatric neuro-immunology and work with government officials to expands access to pediatric health in the near future.