Viewpoint: How diagnostic test delays are harming babies, families

Although state-sanctioned programs can help identify patients with genetic diseases at birth, for children born in states slow to adopt new screening tests, addressable disorders remain undiagnosed and result in unnecessary suffering for children and their families, three authors argue in a STAT op-ed.

Robert Moy, principal at Clarion Healthcare, a life sciences consultancy for pharmaceutical and biotech companies, Seamus Levine-Wilkinson, PhD, manager at Clarion Healthcare and Joseph Sterk, independent consultant and former diagnostics executive, investigated newborn screening programs, noting the lengthy process of approving and implementing a new test.

Here are seven insights from the op-ed.

1. Currently, newborn screening programs monitor for 60 rare and genetic conditions. "An abnormal test result triggers a confirmatory test, such as gene sequencing, and potentially leads to a full diagnosis within two weeks," the authors noted.

2. However, despite the significance of these programs, there is a lack of comprehensive data on program adoption since they are managed by individual states. In their roles as biopharmaceutical strategists and a former diagnostics executive, the authors help companies address rare and genetic diseases by working to understand how many patients there are for a given condition as well as how these patients are diagnosed.

3. After investigating newborn screening programs, the authors expressed concern at how testing delays harm patients, their families and healthcare providers. "Although we are largely inured to the structural inefficiencies that plague the U.S. healthcare system, we were dismayed to discover that it can take years from the time a new screening test becomes available to its adoption in all 50 states," the authors noted. "The lengthy process of approving and implementing a new test robs children, their parents, and healthcare providers of the chance to intervene early and prevent unnecessary suffering and damage."

4. The authors noted the complex and time-consuming process of developing a reliable and economically viable screening test, which has to be reviewed by various committee members and the HHS secretary before being approved to be included in the Recommended Uniform Screening Panel. For screening tests that complete this process, disease advocacy organizations, affected families, their physicians, and biopharmaceutical companies must lobby states to include the test in its newborn screening panel.

5. "Our research indicates that it typically takes 10 years or more before a new screening test reaches all U.S. newborns," the authors noted. "Diagnosis of severe combined immunodeficiency in the first weeks of life provides a critical opportunity to protect children from persistent infections and to consider potentially curative bone marrow transplant or gene therapy."

6. Additionally, families who are affected by rare diseases not included in screening panels must seek out testing on their own and often lack the resources necessary to get a diagnosis. "It is inefficient, and arguably cruel, to place responsibility for advancing screening tests on affected families and their physicians who are grappling with the hard realities of caring for children with often devastating and poorly understood diseases," the authors argue.

7. To address this issue, the authors offered three suggestions: raising awareness among families, physicians and advocacy groups of diseases that could be included in the newborn screening panel, petitioning the advisory committee quickly even if the Advisory Committee on Heritable Disorders in Newborns and Children rejects a new test and increasing funding for test development and improvement.

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