We conducted a literature scoping review to examine ethical, legal, and social issues related to the use of EHRs for research purposes or issues related to genetic research. Given the breadth of literature in this area, we opted for a scoping approach. It also allowed us to synthesize information from a variety of sources, including theoretical and narrative reviews, qualitative studies, and quantitative research. We first identified our search terms; searched the relevant literature; reviewing, mapping and compiling information; and summarized the main findings [21,22]. In the informed consent form, researchers must indicate whether personally identifiable information will be used in the study. It is not clear whether a particular genetic disease, an intellectual disability, would fall within the definition of personally identifiable information in the final rule. The Code simply states that the definition of is regularly reviewed and updated as necessary. In the meantime, it appears that organizations implementing this policy will need to define what constitutes personally identifiable information. The Health Insurance Portability and Accountability Act (HIPAA) privacy rule (see 45CFR160-164), which covers EHRs, defines genetic information and considers it protected health information. Like the final rule, HIPAA has specific requirements for sharing information, including an individual`s EHR data. Therefore, research on EHRs on specific genetic diseases should be reviewed by an IRB to determine whether informed consent from participants should be obtained. Three main methods are available for transposing international legal instruments into national law: The objective of this study was to review previous research to better understand which ethical, legal and social issues require further investigation when examining the use of EHRs for research purposes for individuals with genetic disorders that may lead to developmental disabilities.

This information will be valuable in developing methods and best practices to engage this group in research, as they are considered vulnerable populations in need of special protection for research. (1) Direct incorporation of the rights recognized in the international instrument into what may be called a “Bill of Rights” in the national legal system. International instruments such as declarations, resolutions, principles, guidelines and rules are not technically legally binding. They express universally accepted principles and represent a moral and political obligation on the part of States. They can also serve as guidelines for States to enact laws and formulate policies for persons with disabilities. The more international disability standards are known, the more likely it is that national courts will comply with these standards. This enables courts to play an important role in interpreting and developing international standards by applying international standards to national disability issues. A final model of informed consent proposed is to abstain from participating in research. The withdrawal model requires a participant to actively withdraw from research. If they do not withdraw, they are deemed to passively agree to participate.

This model has been adopted by the Icelandic Biobank Project, a national attempt to merge three data sources – EHR, genealogy and genetics – into a single database for research purposes [23]. However, the withdrawal model has not been applied consistently across all lines of evidence and has been criticized by those who felt that it did not provide adequate control for research participants or meet ethical and legal requirements [32]. There does not appear to be a consistent approach to obtaining consent for biobank research [41]. Given the issues related to informed consent raised in previous studies, what are the best models of informed consent to use for people with genetic disorders with developmental disabilities? Is a general or blanket consent model appropriate for this population? Would an opt-out model be ethical? Or is the progressive consent model the only viable option? And would the type of consent model that applies to adults also apply to children with genetic disorders that result in developmental disabilities? To answer these important questions, researchers should consider the decision-making capacity of those invited to participate in the study. For example, people with fragile X syndrome, the most common inherited form of intellectual disability, may have a range of impairments, from normal or mild delays to severe mental impairments. Young children with a genetic condition, regardless of their level of functioning, must obtain permission from a parent or guardian to participate in EHR research. However, when children with fragile X syndrome or other genetic diseases leading to intellectual disability reach adulthood, their capacity to consent should be assessed to determine whether they adequately understand the study, including the risks and benefits of participation. Number of articles included on ethical, legal and social issues. EHR: electronic health record. There are also some cultural and social barriers that have contributed to discouraging persons with disabilities from fully participating. Discriminatory practices against persons with disabilities may therefore be the result of social and cultural norms institutionalized by law.

Changing perceptions and concepts of disability will lead to both value shifts and better understanding at all levels of society, as well as attention to social and cultural norms that can perpetuate false and inappropriate myths about disability. One of the dominant features of legal thought in the twentieth century was the recognition of law as a tool for social change. Although legislation is not the only means of social progress, it is one of the most powerful instruments of change, progress and development in society. Few studies have focused on consent models to access EHR data only, unrelated to biological samples. Commenting on whether it is ethical to access EHR data, self-identifiable information, without consent, Miller argues that the answer lies in balancing risks and benefits [26]. In cases where the common good outweighs personal risks to an individual, informed consent can be lifted under the auspices of a utilitarian philosophy. However, the objection to this approach is that it violates an individual`s right to privacy. EHR research conducted by pharmaceutical companies may generate support or concern for people with developmental disabilities. Pharmaceutical companies play an important role in collaborating with researchers to develop and test treatments. However, pharmaceutical companies may also be perceived negatively given the high cost of orphan drugs for some rare genetic diseases [95-98]. Similarly, people with developmental disabilities may be more or less willing to share sensitive or identifiable information with EHR researchers.

If a person has already been diagnosed with a genetic disease that causes intellectual disability, the risk of identification may be less if the person`s diagnosis is common knowledge. But for those with very rare genetic diseases, there may be an increased risk of identifiability, especially because there are so few patients with a particular disease [99]. These questions are difficult to answer because few studies have examined the preferences of people with developmental disabilities for participation in research in a broader sense [100], and none have asked specific questions about EHR research.