title: Psychosocial aspects of predictive genetic testing for acute intermittent porphyria in norwegian minors.
abstract: OBJECTIVE
  The Norwegian Porphyria Centre routinely offers genetic counselling and predictive genetic testing in families diagnosed with porphyria. The aim of this study was to investigate the subjective experiences of adolescents and young adults who were genetically tested for acute intermittent porphyria (AIP) as minors. What were the psychosocial consequences and how were these handled?
  
  
  METHODS
  Qualitative interviews of ten Norwegians aged 16-21 years were performed and analysed based on interpretive description. All participants were initially predictively tested for AIP as minors, but three had subsequently developed manifest disease.
  
  
  RESULTS
  The participants considered early diagnosis and lifestyle moderation advantageous, but finding motivation for precaution was difficult. AIP inflicted few psychosocial challenges and was a small part of the participants' identity, but risk of manifest disease was, nevertheless, a cause for concern for two participants with latent AIP. The participants were content with their present level of knowledge and they felt capable of obtaining relevant information when needed. AIP was experienced as a vague condition, and participants and their relatives attributed a variety of symptoms to the disease.
  
  
  CONCLUSIONS
  Being genetically tested as a minor was experienced as useful and entailed relatively few adverse psychosocial consequences, although there was a potential for concern. Appropriate and individually tailored genetic counselling and written consent is subsequently advised. What constitutes a suitable age for testing will differ from individual to individual, but these results suggest that parents in collaboration with their children may be suited to decide what age is appropriate.
authors: The Norwegian Porphyria Centre (NAPOS), Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, 5021, Norway, janice.andersen@helse-bergen.no.
authors: Janice
authors: J
authors: Andersen
authors: Sverre
authors: S
authors: Sandberg
authors: Maalfrid
authors: M
authors: Raaheim
authors: Eva
authors: E
authors: Gjengedal