Journal of Inherited Metabolic Disease

, Volume 28, Issue 6, pp 819–824 | Cite as

The knowledge gap in expanded newborn screening: Survey results from paediatricians in Massachusetts

  • M. Gennaccaro
  • S. E. Waisbren
  • D. Marsden


Massachusetts currently offers an optional expanded newborn screening programme that tests for 20 biochemical genetic disorders in addition to the mandated newborn screening tests, including phenylketonuria (PKU) and nine other biochemical genetic disorders. We conducted a mail survey of 550 paediatricians listed in the 2000 Massachusetts Healthcare Directory to determine paediatricians' preparedness in discussing expanded newborn screening and its results with families, and to determine in what specific format physicians in Massachusetts would prefer to receive educational materials and updates. Of surveys mailed, 35% (190/550) were returned within the allotted 3 weeks: 25 paediatricians (14%) were unaware of expanded newborn screening; 78 respondents (42%) indicated feeling less than prepared talking about test results with families; 100 paediatricians (54%) indicated a lack of information about metabolic disorders; 134 (73%) preferred information sent in postal mailings, 62 (34%) preferred grand rounds, 60 (33%) preferred educational seminars, and 58 (32%) preferred websites. Other formats receiving preferences of less than 30% included e-mail (27%), phone calls (8%), video (6%), and distance learning (1%). Paediatricians are ill-prepared for expanded newborn screening for biochemical genetic disorders. To address this problem, paediatricians in Massachusetts indicated a preference for unsolicited periodic mailings including short reviews and brochures.


Screening Programme Phone Call Educational Material Newborn Screening Short Review 
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Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  1. 1.Department of GeneticsChildren's Hospital BostonBostonUSA
  2. 2.Department of PsychiatryChildren's Hospital BostonBostonUSA
  3. 3.Department of MedicineChildren's Hospital BostonBostonUSA

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