Neonatal testing for rare diseases: The power of knowing

While in concept it is straightforward to develop a neonatal testing panel for rare (and common) diseases, the greater challenges are in the dissemination of this panel and the training of medical personnel concerning what to do with the information. Neonatal testing represents a weapon for early detection of rare disease, but implementation is key. Additionally, how the results are shared with patients and what actions are taken based on those results are critical. Join this discussion to learn from experts about the pros and cons of neonatal (and prenatal) testing for rare diseases and what challenges face both the medical community treating these disorders and the patients living with them.

With:
Monica Wojcik, M.D. (Boston Children's Hospital & Harvard Medical School ; Boston, MA)
Roberto Giugliani, M.D., Ph.D. (Federal University of Rio Grande do Sul ; Porto Alegre, Brazil)
Melissa P. Wasserstein, M.D. (The Children's Hospital at Montefiore ; Bronx, NY)
James R. Bonham, Ph.D. (International Society for Neonatal Screening ; Maarssen, The Netherlands)
Sean Sanders, Ph.D. (moderator ; Science/AAAS ; Washington, DC)

This podcast is the audio recording of a webinar launched by Science magazine, with the support of Fondation Ipsen.

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