Patients Support Genetic Heart Research

Background: About 50,000 patients with congenital heart disease as well their relatives have been sampled in the German National Register for Congenital Heart Defects (NRCHD). A considerable number (~3,000) of them has also enlisted in its biobank efforts to make human samples (blood, saliva and tissue) available for cardiac research.

Purpose: The aim of the current study was to evaluate the attitude of CHD patients and relatives towards usage of their biological samples in genetic investigations.

Methods: Patients and their relatives were interviewed online about their motivation to submit biological samples for genetic heart research. Study participants were recruited via the database of the NRCHD (inclusion criteria: all patients with current email address). Overall, 2,041 participants (patients and/or relatives) responded within 30 days to the online survey. Participants have been asked to rate three questions about genetic heart research on a ten-stage Likert scale (1 = very unlikely, 10 = very likely): (1) How likely is it that you provide a saliva sample to support genetic heart research? (2) How likely is it that you provide a blood sample to support genetic heart research? (3) How likely is it that you ask your family to support genetic heart research with a salvia or blood sample? To subgroup their attitude towards genetic heart research, we derived three categories: 1–6 = negative attitude, 7–8 = neutral attitude, 9–10 = positive attitude.

Results: 52.9% of the participants are CHD patients (average age: 29.6 ± 13.3 years). Patients and relatives are more likely to provide saliva samples (positive attitude: patients = 67.6%, relatives = 66.9%) compared to blood samples (positive attitude: patients = 63.8%, relatives = 60.6%). Relatives of patients show a higher motivation to engage additional family members towards supporting biological sampling (positive attitude: patients = 48.4%, relatives = 59.2%). Significant mean differences were found between patients and relatives in all three questions (saliva sample: p < 0.01; blood sample: p < 0.05; ask family members: p < 0.001).

Conclusion: Overall, the motivation to submit biological samples is high. More detailed follow-up studies will be needed to address the large proportion of neutral study participants and will need to take into account patient concerns in genetic research. In general, the majority of participant's regards genetic research as a positive development.