Parents'' attitude toward screening for late-onset diseases-A study of Fabry disease

Background: The development of Tandem Mass Spectrometry has just increased dramatically the number of diseases that can detected by newborn screening, but now new tests including Fabry disease are starting. Fabry disease is different from other diseases targeted by newborn screening that it is a late-onset disease. Therefore, it would be important to know the attitudes of the parents toward Fabry disease. Purposes: In this study we want to assess parents’ knowledge about Fabry screening, and their reaction to a positive screening result. Methods: A questionnaire would be filling in through mail-in survey, face to face interview, or by telephone. Each participant took 20 minutes to fill out the questionnaire completely. Questions included demographic variables, psychological consequences, knowledge of Fabry disease and late-onset predictive, and attitude towards predictive testing. Two groups’ subjects were recruited. The experiment group was the parents whose children received Fabry disease newborn screening; the control group was the parents whose children received G6PD newborn screening. A total of 76 subjects were enrolled in this study. Results: 76 questionnaires were analyzed by SPSS 12.0. Most of parents felt moderated or severe pressure when the hospital informed them to repeat the newborn screening test because the false- positive result. Parents often appeared shock and anxiety in both participant groups. 76% of parents in the experiment group had received genetic counseling. The knowledge about Fabry disease was better in the experiment group than in the control group. 88% of parents in the experiment group agreed to do the predictive test for their children if the disease has good prognosis after treatment, while 85% in the control group agreed. 57% of parents in the experiment group agreed to do the predictive testing even the detection rate was 50%, while 78% in the control group agreed. 76% in the experiment group agreed to do the genetic testing for multiple factorial diseases, while 63% in the control group agreed. 61% in the experiment group agreed to do the predictive test for untreatable disease such as Huntington disease, while 56% in the control group agreed. Conclusions: There’s a significant difference between the two groups in the knowledge of Fabry disease. Among the emotional responses, shock and anxiety were higher upon a positive screening result for Fabry disease and the Fabry disease of pressure was also high. It appeared that genetic counseling was important for the parents to understand newborn screening. Subjects who had received counseling had better knowledge in the Fabry disease than subjects who didn’t receive counseling. The needs for counseling and knowledge about Fabry disease should not be neglected in the development of the screening program.eywords: Fabry disease, False-positive, late-onset disease, Predictive test.