Siv Lisbeth Tønder, Helge Boman*, Øyvind Skadberg and Sverre Sandberg
The Norwegian Porphyria Center, Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway. * Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
To protect the rights of individuals, genetic testing is regulated by law in Norway. Whereas diagnostic work-up for overt disease is exempt, carrier testing and predictive testing for possible future disease are not. Unless serious consequences may be avoided by predictive testing, the testing of children is prohibited until the legal age of consent (16 years). License to perform predictive testing is granted to regional medical genetics departments and a few other units for defined disorders. Informed consent, professional genetic counseling before and after testing, and annual reports of the activity are among the prerequisites for predictive testing. Health personnel may not contact other members of the family to offer testing (“unsolicited genetic activity”), but leave such distribution of information to patients (“cascade testing”). Third parties (e.g. employer, insurance companies) are barred from information resulting from predictive genetic testing, and may not even ask whether such tests have been performed.
Genetic testing in Norway is only performed at The National center for porphyria disorders (NAPOS). We attempt to identify the mutation specter of all porphyria disorders, opening for predictive testing on the DNA level. The physicians and genetic counselor at NAPOS also perform genetic counseling for predictive testing. We would like to present some of our experience from the counseling activity. The authors would particularly like to address some issues concerning genetic counseling for discussion in an international community of porphyria experts, to reveal similarities and differences in the way of thinking between countries. Among these issues are
· Is genetic counseling an equally useful activity for the various porphyria disorders?
· Should genetic counseling before biochemical testing of family members for porphyria be different from before DNA-testing?
· Only a few of the relatives of familial PCT patients (10%?) will ever develop symptoms. To what extent should genetic counseling and predictive DNA testing be offered to family members?
· The counseling and testing of children for possible future porphyria.