Ethical issues in genomics research on neurodevelopmental disorders: a critical interpretive review

Abstract

Background Genomic research on neurodevelopmental disorders (NDDs), particularly involving minors, combines and amplifies existing research ethics issues for biomedical research. We performed a review of the literature on the ethical issues associated with genomic research involving children affected by NDDs as an aid to researchers to better anticipate and address ethical concerns. Results Qualitative thematic analysis of the included articles revealed themes in three main areas: research design and ethics review, inclusion of research participants, and communication of research results. Ethical issues known to be associated with genomic research in general, such as privacy risks and informed consent/assent, seem especially pressing for NDD participants because of their potentially decreased cognitive abilities, increased vulnerability, and stigma associated with mental health problems. Additionally, there are informational risks: learning genetic information about NDD may have psychological and social impact, not only for the research participant but also for family members. However, there are potential benefits associated with research participation, too: by enrolling in research, the participants may access genetic testing and thus increase their chances of receiving a (genetic) diagnosis for their neurodevelopmental symptoms, prognostic or predictive information about disease progression or the risk of concurrent future disorders. Based on the results of our review, we developed an ethics checklist for genomic research involving children affected by NDDs. Conclusions In setting up and designing genomic research efforts in NDD, researchers should partner with communities of persons with NDDs. Particular attention should be paid to preventing disproportional burdens of research participation of children with NDDs and their siblings, parents and other family members. Researchers should carefully tailor the information and informed consent procedures to avoid therapeutic and diagnostic misconception in NDD research. To better anticipate and address ethical issues in specific NDD studies, we suggest researchers to use the ethics checklist for genomic research involving children affected by NDDs presented in this paper.

Long-term morphological and functional dynamics of human stem cell-derived neuronal networks on high-density micro-electrode arrays

“…Neurodevelopmental research in humans is mostly limited to postmortem and neuroimaging techniques, hindering detailed developmental studies using electrophysiology tools ( Manzini et al, 2021 ; Mezinska et al, 2021 ). The human brain develops through proliferation and differentiation of neuronal progenitor cells, migration of immature neurons, axonal elongation and pathfinding, dendrite growth and arborization and synaptogenesis ( Raybaud et al, 2013 ; Budday et al, 2015 ; Jiang and Nardelli, 2016 ; Silbereis et al, 2016 ).…”

Appropriate Means to Vulgarize the Human Cytogenetics

“…They raise multiple ethical issues including the participation of minors in research, incidental findings, the protection of privacy and the interpretation of genetic findings in a personal or family referral. In addition, it is necessary to take into account the right to physical integrity but also the right to decide on the use of personal data [23] [26] [27]. In view of the above observations, it is necessary to emphasize that research protocols in the field of cytogenetics should be examined and approved by the local operational ethics committee.…”

Ethical and social issues in research on genetics and mental health

“…It is recommended that informed assent be obtained from children aged 12-18, so that they are involved in the decision. However, those with neuro-developmental disorders may have impaired cognitive functioning that makes them less able to provide assent (Mezinska et al, 2021). Most ethics codes state that refusal to participate should be respected, but if a child does not agree to participate, the validity of their reasons should be explored (Hiriscau et al, 2016).…”

“…These companies are then in possession of resources of interest to researchers. The transfer of data and samples across international borders also raises questions related to data security, privacy, and governance of biobank procedures (Mezinska et al, 2021). This situation calls for regulation of direct-to-consumer genetic testing.…”