Newborn Screening
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Contact Info
Newborn Screening Program Information:
Newborn Screening Advisory Committee (NSAC)
Disorder coming soon:
The following new conditions have been approved for addition to Minnesota's newborn screening panel:
- Guanidinoacetate Methyltransferase (GAMT) Deficiency
- Mucopolysaccharidosis Type II (MPS II)
- Duchenne Muscular Dystrophy (DMD)
Implementation is currently in progress and screening has not yet begun.
Have questions about any of the information seen here? Please contact the advisory committee coordinators at health.nsac@state.mn.us.
The Advisory Committee on Heritable and Congenital Disorders, also called the Newborn Screening Advisory Committee (NSAC), was established in 2003. The NSAC was created to provide advice and recommendations to the Minnesota Commissioner of Health concerning tests and treatments for disorders found in newborn children (authorizing legislation: Minnesota Statute 144.1255).
NSAC membership
Members of the NSAC includes, but is not limited to, the following:
- Parents and other consumers
- Primary care providers
- Clinician and researchers specializing in newborn disorders and disorders
- Genetic counselors
- Birth hospital representatives
- Newborn screening laboratory professionals
- Nutritionists
- Other experts as needed
Advisors serve for four year terms and can reapply at the end of their term.
Currently appointed advisors include:
- Rae Blaylark (Chair) – Sickle Cell Foundation of Minnesota, parent
- Katie Pfister (Vice Chair) – University of Minnesota, Neonatology
- Alex Boucher – University of Minnesota, Hematology
- Annamarie Saarinen – Newborn Foundation
- Brooke Moore – Children’s Minnesota, Pulmonology
- Christen Ebens – University of Minnesota, Immunology
- Courtney Jarboe – University of Minnesota, Bioethics and Metabolism
- Dietrich Matern – Mayo Clinic, Laboratory Medicine and Pathology
- Emelia Rogers – Gillette Children’s, Social Work
- Jennifer Arveson – Pacer Parent to Parent Program, Parent
- Kaitlyn Campbell - parent
- Kali Schreiner – Gillette Children’s, Genetic Counselor
- Kathy Stagni – Organic Acidemia Association, Executive Director, Parent
- Patricia Hall – Mayo Clinic, Laboratory Medicine and Pathology
- Queenie Tan – Mayo Clinic, Clinical Genomics
- Randal Richardson – Gillette Children’s, Neuromuscular
- Renee Temme – Children’s Minnesota, Genetic Counselor
- Robert Jacobson – Mayo Clinic, Primary Care
- Susan Berry – University of Minnesota, Genetics and Metabolism
- Teresa Rink – Children’s Minnesota, nutritionist
The following positions are vacant. Applications can be submitted anytime through the Secretary of State.
- Birth hospital representative
- Nutritionist
- Parent or other consumer
- Primary Care Provider
Applications are reviewed by a steering committee composed of MDH staff and presented to the Commissioner of Health for final appointment decisions.
Any questions about vacancies or the appointment process can be directed to health.nsac@state.mn.us.
Conditions reviewed and status
Below is a summary of the conditions that have been nominated and/or considered for addition to the Minnesota newborn screening panel since 2015.
| Condition | NSAC Initial Discussion | NSAC Vote | Commissioner Approval |
|---|---|---|---|
| Metachromatic Leukodystrophy (MLD) | 4/2024 | Declined 10/2024 | |
| Duchenne Muscular Dystrophy (DMD) | 5/2022 | Approved 10/2023 Letter to Commissioner (PDF) | Approved Commissioner Response 1/2024 (PDF) |
Guanidinoacetate methyltransferase | 10/2022 (RUSP Condition) | Approved 6/2023 Letter to Commissioner (PDF) | Approved Commissioner Response 8/2023 (PDF) |
Mucopolysaccharidosis Type II ( | 10/2022 (RUSP Condition) | Approved 6/2023 Letter to Commissioner (PDF) | Approved Commissioner Response 8/2023 (PDF) |
| Krabbe disease | 5/2022 | Approved 6/2023 Letter to Commissioner (PDF) | Approved Commissioner Response 8/2023 (PDF) |
| Congenital Cytomegalovirus (cCMV) | 10/2021 | Approved 1/2022 Letter to Commissioner 2/2022 (PDF) | Approved Commissioner Response 2/2022 (PDF) |
| Spinal muscular atrophy (SMA) | 10/2016 | Approved 10/2017 Letter to Commissioner 12/2017 (PDF) | Approved Commissioner Response 12/2017 (PDF) |
| X-linked adrenoleuko- dystrophy (X-ALD) | 10/2015 | Approved 10/2015 Letter to Commissioner 12/2015 (PDF) | Approved Commissioner Response 4/2016 (PDF) |
| Mucopolysacch- aridosis type 1 (MPS I) | 4/2015 | Approved 10/2015 Letter to Commissioner 12/2015 (PDF) | Approved Commissioner Response 4/2016(PDF) |
| Pompe disease | 4/2015 | Approved 10/2015 Letter to Commissioner 12/2015 (PDF) | Approved Commissioner Response 4/2016 (PDF) |
| Krabbe disease | 4/2015 | Declined 10/2015 Letter from Committee Chair 12/2015 (PDF) | - |
| Gaucher disease | 4/2015 | Declined 10/2015 Letter from Committee Chair 12/2015 (PDF) | - |
| Fabry disease | 4/2015 | Declined 10/2015 Letter from Committee Chair 12/2015 (PDF) | - |
| Niemann-Pick A/B | 4/2015 | Declined 10/2015 Letter from Committee Chair 12/2015 (PDF) | - |
Nominate a Condition for Newborn Screening
In 2019, we established a new process by which conditions can be nominated for addition to or removal from Minnesota's newborn screening panel.
You must be a Minnesota resident to nominate a condition as the benefits and harms of screening are to Minnesota families. If you are a Minnesota resident and would like to nominate a condition, please contact the NSAC coordinators at health.nsac@state.mn.us.
The NSAC coordinators will follow-up with you, invite you to the Public Health Laboratory for a tour, discuss the condition you wish to nominate, and describe the full nomination process. Following this meeting, coordinators will provide you with the condition nomination form and conflict of interest forms. Coordinators are available to support nominators throughout their submission process.
Condition Review Process
In 2019, we established an improved process by which conditions are reviewed for addition to Minnesota's newborn screening panel. Conditions previously added to the newborn screening panel underwent a separate review process.
What is the process for considering the addition of a condition to the Minnesota newborn screening panel?
Review the flowchart (text version available).
Part of the review process is determining if the nominated condition meets the following key criteria:
Criterion 1: There is support from an appropriate screening facility and the nominated condition is considered feasible to add (i.e., newborn screening lab for blood spot screens and hospitals for point of care screens).
Criterion 2: Clinical specialist(s) are available, ready to accept referrals, and willing to manage patients found through screening.
Criterion 3: The nominated condition can be found between 24 and 48 hours of life through screening but cannot be identified clinically in that time frame.
Criterion 4: There is a screening test available now or expected within 12 months that can be done quickly and is successful in finding affected newborns.
Criterion 5: There is safe and effective treatment and/or intervention available which provides significant improvement in the quality of life when administered early.
Criterion 6: There is an infantile onset form of this condition.
Newborn Screening at the National Level
The Minnesota Newborn Screening program is often times in alignment with the Recommended Uniform Screening Panel (RUSP) set forth by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). Getting a disorder added to the RUSP is the preferred method as it could impact all state newborn screening programs.
What is the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)?
The ACHDNC is a federal committee whose mission is to reduce the morbidity and mortality in newborn and children who have, or are at risk for, heritable disorders. The ACHDNC advises the U.S. Department of Health and Human Services (DHHS) Secretary on matters related to universal newborn screening, including tests, technologies, guidelines, and standards. The ACHDNC makes recommendations to the Secretary with regards to what conditions should be included as part of the Recommended Uniform Screening Panel.
What is the Recommended Uniform Screening Panel (RUSP)?
The RUSP is a list of conditions recommended by the ACHDNC and approved by the DHHS Secretary that every newborn in the United States should be screened for as part of their state's newborn screening program. Although states ultimately determine what disorders to include on their newborn screening panel, the RUSP provides a uniform list of disorders that are supported by the Committee and the Secretary.
How do conditions get added to the RUSP?
For a condition to be added to the RUSP, it must be nominated for consideration by submitting a nomination package. The Committee's Nomination and Prioritization Workgroup reviews the nomination package and provides the ACHDNC with a summary of the information. The ACHDNC then decides if there is enough evidence available to send it to an external Condition Review Workgroup. The Condition Review Workgroup does an evidence-based review and then presents the information to the ACHDNC. Following discussion, the ACHDNC uses a decision matrix to help them vote to either recommend or not recommend the condition. The DHHS Secretary makes the final decision on whether or not to add the recommended condition to the RUSP.
Details and information about submitting a nomination package.