The advances in genomic medicine have given way for a need to translate research findings into medicine and public health practice. Both genetic knowledge and attitudes toward genetic testing are associated with an increased uptake of genetic testing; therefore assessing these domains in parents prior to testing availability is ideal. Additionally, studies of informed consent comprehension for genetic research studies with biobanking components indicate deficits in understanding. These concerns extend to studies that collect and store samples from children, where parents are acting as proxies by providing consent for their minor children. The Genetic Knowledge, Attitudes, and Informed Consent (KAIC) study was undertaken to measure genetic knowledge, attitudes, and biobanking informed consent understanding among a sample 287 parents whose children were enrolled in a biobanking study aimed at examining the genetics of a type of congenital heart defect.
Knowledge about genetics was assessed with an 18-item instrument. The mean percentage of knowledge questions answered correctly was 73.7% with a range of 28.4% to 97.2%. Participant responded correctly most often to questions related to the interaction of genes and the environment and responded correctly the least often to statements related to basic genetics and heredity. For example, 97.2% of the sample correctly responded true to the statement ‘Some diseases are caused by genes, environment, and lifestyle’, while only 28.4% responded correctly to the statement ‘Humans have 20 pairs of chromosomes’. The mean score for participants classified as having high genetic knowledge was 89.9% and 62.2% for those classified as having low genetic knowledge. In multivariate analyses, educational attainment was significantly associated with high genetic knowledge (p=0.001).
Attitudes about the benefits of genetic testing were favorable with 79.5% agreeing that it was likely that test results would be used to manage their health care and 89.4% thought it was likely that test results would be used to help scientists find cures for diseases. Conversely, 33% of participant agreed that it was likely that their test results would be used to limit health insurance coverage for their health problems or prevent them from getting life insurance. Parent and proband characteristics associated with attitude items included household income, type of proband heart malformation, and proband age group. There was no association between genetic knowledge and attitudes.
Informed consent understanding of was measured with a revised version of the Quality of Informed Consent (QuIC) instrument. Part A measured factual understanding of study procedures while part B measured participants’ perceived knowledge. The total proportion of items answered correctly in part A ranged from 0.08 to 0.92 (median=0.62). The mean part A score was 0.58 for females compared with 0.62 for males with a trend toward significance (p=0.03). Parent age, gender, marital status, income, previous research experience, and time since consent for the LVOT study were associated with individual QuIC part A items. Perceived understanding as measured by part B was positively associated with part A knowledge scores (p=0.003).