Our study sought to analyze the extent to which respondents’ participation in genomic research into congenital heart disease, based on their consent to specific procedures, revealed patterns correlated with their demographic data. Two conclusions can be drawn.
First, gender had an important influence on various aspects of research participation, such as proxy consent for minors, except for the TOF group, or the recruitment of distant family members. Such gender-associated patterns of participation in research raise socio-ethical questions. On one hand, considering that women consented to participate in this genomic research into congenital heart disease in a greater proportion than men, one might argue that we ought to inverse this dynamic by thinking of new strategies to facilitate the recruitment of men. Another study on newborn screening for fragile X syndrome in which the institutional review board had determined that consent was required from both parents also found a sizeable number (158/262, or 60.3%) of fathers who were not available for consent, reflecting the complexities of parental status and family relations and their implications for obtaining consent for research involving children. However, when fathers were available for consent, their acceptance rate (71%) was slightly higher than that of the mothers (68%) [15
]. In our study, depending on the severity of the disease, fathers were more often available for consent: fathers filled out a consent form for children for whom TOF was detected and who were hospitalized. As we said, most of affected children for whom TOF was detected were hospitalized very young and due to the severity of the disease, both parents must be present at the signature of the consent
On the other hand, one might argue that women’s participation in research or in recruiting distant family relatives might be part of a “gendered responsibility”, i.e., responsibility that is socially assigned to women [16
], and that any improvement of the consent process should strive to take this into account. Although the exceptions for parents who are deceased, unknown, incompetent, or do not have legal responsibility may be easier to apply, the exception for availability is at once the most likely reason for relying on one parent only and the least well defined. For example, in our study, were fathers “unavailable” simply because they were working, or does this criterion demand a more permanent or distant separation from the child? If the parents are divorced and living apart but both can be contacted, to what extent should investigators be obligated to seek permission from both? This requirement could grow as new technologies expand the medical
conditions that can be identified during the study. If such conditions emerge as incidental findings for which there are treatments, then each parent’s consent may be required. These were the types of questions Nelson and his colleagues sought to address [15
]. Clearly there are many variations on family structure that investigators should consider when planning research requiring permission from both parents.
There are a number of gendered aspects to pediatric research. It has been reported that studies of prenatal decision-making indicate that men are more likely to be “bystanders” in this process and that women bear the major responsibility for assessing genetic
and testing risks. Studies also show that women are typically the “keepers” and key communicators of genetic information, taking on responsibility for disclosing genetic information to others and often bearing the burdens that it can impose [17
Second, our data show that the age of participants might play a role in the consent to specific procedures of genetic research on CHD, such as DNA banking, recalls for more sampling, and use of cardiac tissue for further research. The protection of minors seems to be a priority among adult respondents. DNA was collected less often for children under three years old; however, parents were informed that DNA banking was technically more difficult for participants under three because of the amount of blood required to isolate DNA. We could see that a DNA sample was more often collected and from adults, and similarly, recalls for more tissue sampling were more often accepted for adults. In contrast, the use of cardiac tissues for further research was less often accepted for adults.
Recognizing ‘sub-groups of participants’ with different participation concerns and patterns of behaviour may lead to a greater awareness and understanding of the different needs of such sub-groups regarding information, participation and consent. Participants in different sub-groups (e.g., according to gender, age, family position, disease investigated) may have different expectations towards research and different needs during the consent process, depending on the disease or on other demographic
characteristics. Further studies could shed light on the effects of these factors on research participation.
Our analysis revealed patterns between demographic characteristics, participation and consent to various aspects of genomic research into congenital heart disease. Thus, it is important to pursue ongoing efforts to improve the overall recruitment process, so that it may better serve both future research participants and the advancement of science. We are aware that this is a tremendous task. Yet, attention should be given, while improving the consent process, to heterogeneity in the sample and the possibly different needs of different sub-groups of participants.