Paul C Helm1, Ulrike M M Bauer1,2, Hashim Abdul-Khaliq2,3, Helmut Baumgartner1,4, Hans-Heiner Kramer5, Christian Schlensak2,6, Thomas Pickardt1, Anne-Karin Kahlert5,7, Marc-Phillip Hitz5. 1. National Register for Congenital Heart Defects, DZHK (German Center for Cardiovascular Research), Berlin, Germany. 2. Competence Network for Congenital Heart Defects, DZHK (German Center for Cardiovascular Research), Berlin, Germany. 3. Department of Paediatric Cardiology, Saarland University Medical Center, Homburg, Germany. 4. Center for Adults with Congenital Heart Defects (EMAH-Center), University Hospital Muenster, Muenster, Germany. 5. Department for Congenital Heart Disease and Pediatric Cardiology, DZHK (German Centre for Cardiovascular Research), University Hospital Schleswig-Holstein - Campus Kiel, Germany. 6. Department of Thoracic and Cardiovascular Surgery, University Medical Center Tübingen, Tübingen, Germany. 7. Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Dresden, Germany.
Abstract
BACKGROUND: Congenital heart disease (CHD) affects up to 1% of live births the etiology remains relatively poorly understood. Thus, cardiac research is needed to understand the underlying pathomechanisms of the disease. About 51 000 CHD patients are registered in the German National Register for Congenital Heart Defects (NRCHD). Patients and relatives were interviewed online about their willingness to support genetic heart research in order to donate a biological sample. METHODS: Study participants were recruited via the database of the NRCHD. Seven thousand nine hundred eighty-nine patients were invited to participate in the study. Participants have been asked to rate three questions on a ten-staged Likert scale about their willingness to provide a saliva/blood sample and their motivation to ask family members to support genetic heart research. RESULTS: Overall, 2035 participants (patients/relatives) responded the online survey (25.5%). Two-thirds of the participants are willing to donate a saliva sample. Whereas the motivation to provide a blood sample is slightly lower (patients: 63.8%, relatives: 60.6%). Female relatives are more fain to provide a saliva sample as well as a blood sample compared to men (saliva sample: P < .001, blood sample: P < .01). The motivation to ask an additional family member for a biological sample was significantly higher in relatives (59.2%) compared to patients (48.4%). CONCLUSIONS: The motivation to provide biological samples is high reflecting the need for genetic research to unravel the pathomechanism of CHD. A future aim should be to offer an individual risk assessment for each patient based on the underlying genetics.
BACKGROUND:Congenital heart disease (CHD) affects up to 1% of live births the etiology remains relatively poorly understood. Thus, cardiac research is needed to understand the underlying pathomechanisms of the disease. About 51 000 CHD patients are registered in the German National Register for Congenital Heart Defects (NRCHD). Patients and relatives were interviewed online about their willingness to support genetic heart research in order to donate a biological sample. METHODS: Study participants were recruited via the database of the NRCHD. Seven thousand nine hundred eighty-nine patients were invited to participate in the study. Participants have been asked to rate three questions on a ten-staged Likert scale about their willingness to provide a saliva/blood sample and their motivation to ask family members to support genetic heart research. RESULTS: Overall, 2035 participants (patients/relatives) responded the online survey (25.5%). Two-thirds of the participants are willing to donate a saliva sample. Whereas the motivation to provide a blood sample is slightly lower (patients: 63.8%, relatives: 60.6%). Female relatives are more fain to provide a saliva sample as well as a blood sample compared to men (saliva sample: P < .001, blood sample: P < .01). The motivation to ask an additional family member for a biological sample was significantly higher in relatives (59.2%) compared to patients (48.4%). CONCLUSIONS: The motivation to provide biological samples is high reflecting the need for genetic research to unravel the pathomechanism of CHD. A future aim should be to offer an individual risk assessment for each patient based on the underlying genetics.