Wisconsin health care providers can nominate a condition to add to the Wisconsin newborn screening panel. The panel is part of the Wisconsin Newborn Screening program.
The purpose of this page is to show providers the nomination process for Krabbe disease.
What is Krabbe disease
The Genetic and Rare Diseases Information Center (part of the National Institutes of Health) defines Krabbe disease as:
“Krabbe disease is an inherited condition that affects the nervous system. The signs and symptoms of the condition and the disease severity differ by type. Babies affected by early-onset (infantile) Krabbe disease, the most common and severe form of the condition, typically develop features in the first six months of life. Symptoms of infantile Krabbe disease may include:
- Failure to thrive.
- Slowed development.
- Unexplained fevers.
- Progressive muscle weakness, hearing loss, and vision loss.”
Nomination process for Krabbe disease
The following timeline outlines the newborn screening panel nomination process:
The first nomination for Krabbe disease:
- April 9, 2015—Wisconsin Department of Health Services (DHS) received a nomination to add Krabbe disease to the newborn screening panel (PDF).
- Aug. 11, 2015—The Wisconsin Newborn Screening Metabolic Subcommittee submitted a Review of Krabbe Nomination. (PDF)
- Nov. 16, 2015—The Wisconsin Newborn Screening Metabolic Subcommittee had its meeting where it considered the nomination. In a 7–0 vote, they forwarded this recommendation to the Newborn Screening Umbrella Committee:
“Krabbe disease is a progressive neurological disorder. By the time children are symptomatic, there is no effective therapy. For those of us who have watched the decline of children afflicted by this disorder, it is heart wrenching. For parents, the feeling of powerlessness and the suggestion that an earlier diagnosis may have improved the outcome leads to a desire to prevent other parents from suffering in this way. Consequently, it is logical to wish to identify this disorder by newborn screening and offer the hope of potential therapy.
However, as identified in the literature and evidence review attached, there remains significant problems with unacceptably high false positive rates of proposed screening methods. This problem is compounded by difficulty in distinguishing true positive cases from false positives with subsequent molecular or enzymatic testing. Furthermore, since the evidence review, there has been no further published studies demonstrating that HCST provides an improvement in quantity or quality of life over supportive care. Therefore, at this time the metabolic subcommittee cannot support the addition of Krabbe disease to the state of Wisconsin newborn screening panel.”
- Dec. 4, 2015—The Wisconsin Newborn Screening Umbrella Committee adopted the recommendation. They forwarded it to the Secretary’s Advisory Committee on Newborn Screening.
- Jan. 25, 2016—The Secretary’s Advisory Committee on Newborn Screening considered the nomination.
- Aug. 3, 2016—The Advisory Committee sent their Report on Nomination to Newborn Screening for Krabbe Disease in Wisconsin (PDF) to the DHS Secretary.
- Aug. 30, 2016—Based on the recommendation, the Secretary did not move forward with adding Krabbe disease to the newborn screening panel. View the Krabbe response letter. (PDF)
There has been a second nomination for Krabbe Disease. Krabbe disease was initially nominated and reviewed in 2015. Based on the recommendation of the SACNBS, the Department made the difficult decision that Krabbe should not be added to the Wisconsin newborn screening panel at this time.
- March 9, 2020—The Wisconsin Newborn Screening (NBS) Program received a nomination submitted on March 9, 2020, for the nomination of Krabbe Disease.
- April 17, 2020—The Metabolic Subcommittee considered the nomination during a meeting on April 17, 202, and voted that some of the criteria necessary for conditions to be added to the NBS panel of conditions in the state of Wisconsin were not met and more information was needed prior to recommending adding the condition be added to the Wisconsin Newborn Screening panel. The subcommittee forwarded their recommendation to the Umbrella Committee.
- May 1, 2020—The NBS Umbrella Committee considered the nomination during a meeting on May 1, 2020, and similarly voted that some of the criterion were not met and more information was needed in order to recommend adding the condition to the Wisconsin Newborn Screening panel. The Umbrella Committee forwarded their recommendation to the Secretary's Advisory Committee on Newborn Screening (SACNBS).
- May 15, 2020—The SACNBS considered the nomination on May 15, 2020, and forwarded a recommendation (a report) (XXXX report)
to the Secretary of the Department of Health Services. Given concerns that Krabbe disease did not clearly meet all the criteria, a motion was made to forward the recommendation to table the nomination of Krabbe. The motion to table was seconded, then unanimously approved by the committee.
If you have questions about the Krabbe Disease nomination, please contact DHSWICongenitalDisorders@dhs.wisconsin.gov.