Newborn screening and the future – Where do we go from here?

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Presentation transcript:

Newborn screening and the future – Where do we go from here? Susan A. Berry, MD Professor and Director, Division of Genetics and Metabolism Department of Pediatrics University of Minnesota

Wilson and Jungner screening criteria The condition should be an important health problem. There should be a treatment for the condition. Facilities for diagnosis and treatment should be available. There should be a latent stage of the disease. There should be a test or examination for the condition. The test should be acceptable to the population. The natural history of the disease should be adequately understood. There should be an agreed policy on whom to treat. The total cost of finding a case should be economically balanced in relation to medical expenditure as a whole. Case-finding should be a continuous process, not just a "once and for all" project.

Fundamental assumptions for testing: To be a PRIMARY screening target a condition should fit these criteria: It can be identified at a phase (24 to 48 hours after birth) at which it would not ordinarily be clinically detected; A test with appropriate sensitivity and specificity is available for it; There are demonstrated benefits of early detection, timely intervention and efficacious treatment of the condition being tested.

What to do NB screen for? Easy to screen, easy to treat (current NBS) Easy to screen, effect of treatment unknown Easy to screen, treatment available, but very expensive Easy to screen, treatment may come? Easy to screen, no treatment, but counseling may change decisions? Easy to screen, not all with + result have effects?

Now: kinds of testing in NBS Metabolite testing Hormone testing Point-of-service testing DNA testing for specific pathogenic variants (panels)

What could be? Targeted gene panels Whole exome sequencing Already screened conditions Selected additional conditions Primary test or second tier? Whole exome sequencing As neonate? Later? Before??

Questions for consideration If we do this, when? Does this strategy meet the criteria for primary targets? Are those criteria what we should use for deciding? Screening is a public health measure – should genetic testing be mandated/required?