title: Newborn screening for pompe disease? a qualitative study exploring professional views.
abstract: BACKGROUND
  Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthood. Current screening tests cannot differentiate between these forms. Normally, expanding screening is discussed among experts in advisory bodies. While advisory reports usually mention the procedures and outcome of deliberations, little is known of the importance attached to different arguments and the actual weighing processes involved. In this research we aim to explore the views of a wide range of relevant professionals to gain more insight into the process of weighing pros and cons of neonatal screening for Pompe disease, as an example of the dilemmas involved in screening for broad-spectrum phenotype disorders.
  
  
  METHODS
  We conducted 24 semi-structured interviews with medical, lab, insurance and screening professionals, and executive staff of patient organisations. They were asked about their first reaction to neonatal screening for Pompe disease, after which benefits and harms and requirements for screening were explored in more detail.
  
  
  RESULTS
  Advantages included health gain by timely intervention, avoiding a diagnostic quest, having a reproductive choice and gaining more knowledge about the natural course and treatment. Being prepared was mentioned as an advantage for the later manifesting cases. Disadvantages included treatment costs and uncertainties about its effect, the timing of treatment in later manifesting cases, the psychological burden for the patient-in-waiting and the family. Also the downsides of having prior knowledge as well as having to consider a reproductive option were mentioned as disadvantages.
  
  
  CONCLUSIONS
  When weighing pros and cons, interviewees attach different importance to different arguments, based on personal and professional views. Professionals expect benefits from neonatal screening for Pompe disease, especially for early-onset cases. Some interviewees valued screening in later manifesting cases as well, while stressing the need for adequate support of pre-symptomatic patients and their families. Others considered the psychological burden and uncertainties regarding treatment as reasons not to screen.
authors.affiliation: Department of Clinical Genetics/EMGO Institute for Health and Care Research, Section Community Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT Amsterdam, The Netherlands. cg.vanel@vumc.nl.
authors.forename: Carla G
authors.initials: CG
authors.lastname: van El
authors.forename: Tessel
authors.initials: T
authors.lastname: Rigter
authors.forename: Arnold J J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
authors.forename: Stephanie S
authors.initials: SS
authors.lastname: Weinreich
authors.forename: Martina C
authors.initials: MC
authors.lastname: Cornel
mesh_terms: D001291:Attitude of Health Personnel; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000191:economics / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D007407:Interviews as Topic; D015997:Neonatal Screening / Q000009:adverse effects / Q000191:economics / Q000941:ethics / Q000379:methods; D009426:Netherlands; D036301:Qualitative Research