title: Providing genetic risk information to parents of newborns with sickle cell trait: role of the general practitioner in neonatal screening.
abstract: OBJECTIVE
  In 2007, the neonatal screening program in the Netherlands was expanded to include hemoglobinopathies. Newborns with sickle cell disease (SCD), as well as SCD carriers are identified. The benefit of reporting SCD carriers includes detection of more couples at risk (both parents are carriers) who can be informed about future reproductive choices, a responsibility of their general practitioner (GP). We evaluated knowledge, ideas, and actions of GPs after reporting SCD carriers and explored and analyzed potential barriers.
  
  
  METHODS
  A questionnaire study.
  
  
  RESULTS
  A total of 139 GPs responded to our questionnaire (49%). Ninety GPs (90%) stated they informed parents of the test result. In only 23 cases (23%) both parents had themselves tested for hemoglobinopathies. Eighty-one GPs (64%) stated that they did not have enough clinical experience with SCD. Almost half of the GPs indicated that they did not experience any barriers in counseling patients (n=60, 48%).
  
  
  CONCLUSIONS
  At the moment, the goal of the neonatal screening for SCD carriers has not been achieved as the majority of parents were not tested for hemoglobinopathies after disclosure of carrier status in their newborn. With GPs reporting few barriers in counseling parents and only indicating a lack of knowledge and clinical experience, more effort is required to provide better information to GPs to help facilitate their work.
authors.affiliation: Department of Clinical Epidemiology, Biostatistics and Bioinformatics, University of Amsterdam, Amsterdam, The Netherlands. f.vansenne@amc.uva.nl
authors.forename: Fleur
authors.initials: F
authors.lastname: Vansenne
authors.forename: Corianne A J M
authors.initials: CA
authors.lastname: de Borgie
authors.forename: Monica
authors.initials: M
authors.lastname: Legdeur
authors.forename: Marjo Oey
authors.initials: MO
authors.lastname: Spauwen
authors.forename: Marjolein
authors.initials: M
authors.lastname: Peters
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D058005:General Practitioners; D005817:Genetic Counseling / Q000379:methods*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015997:Neonatal Screening; D010290:Parents / Q000193:education*; D010353:Patient Education as Topic; D010819:Physician's Role; D012306:Risk; D012805:Sickle Cell Trait / Q000175:diagnosis* / Q000235:genetics; D011795:Surveys and Questionnaires