Genotype-based recall (RbG), genotype-based recall (GDR) and genotype-based recall (GBR) strategies are increasingly being used to conduct genomic or biobanking substudies that exclude participants as legitimate based on their specific individual genotypic information. However, existing regulatory and governance frameworks do not apply to all aspects of genotype-based research approaches. Recall strategies reveal or retain personal genotypic information of uncertain clinical benefit. Therefore, this scoping review aims to identify the specific, explicit and implicit ethical, legal and societal/social implications (ELSI) of RbG study designs. From November 2020 to February 2021, we conducted a systematic literature search of three electronic databases. We investigated the qualitative and quantitative research methods used to report ELSI aspects in RbG research. Consistent with other research findings, we identified a lack of qualitative research examining the particular challenges of ELSI with RbG. We included and analyzed the content of twenty-five publications. We found consensus that RbG raises important ethical questions, dilemmas, obstacles, concerns and societal challenges.
However, we found that the study-specific disclosure approaches and recall and communication strategies used consent models and research feedback guidelines (RRRs), which differed significantly. In addition, we identified great heterogeneity in participants` and experts` EQE perspectives of the specific RbG policies under study. Therefore, there is a need to further refine ELSI frameworks through qualitative and empirical research to draw conclusions and refine ELSI frameworks. Beskow LM, Namey EE, Miller PR, Nelson DK, Cooper A. IRB chairs perspectives on genotype-oriented research recruitment. IRB. 2012;34:1â10. After a full-text review, we included 25 studies in the synthesis (as shown in the appendix) [4,5,6,7,8,9,10, 19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36]. We found a general lack of qualitative research to examine RbG`s ELSI. There is a consensus in the literature that RbG raises important ethical and societal challenges, with ELSI discussions focusing on the issues presented in Table 1. Of the 25 publications included, we discovered nine publications using methods to collect empirical ELSI data from RbG, as shown in Table 2. We organized the tables chronologically to show the evolution of the different studies, some of which were a direct response to another.
Hindorff LA, Bonham VL, Brody LC, Ginoza MEC, Hutter CM, Manolio TA, et al. Priortizing Diversity in Human Genome Research – Nature Reviews Genetics. Nat Rev Genet. 2018;19:175â85. Another problem concerns the incentives that naturally accompany patents. In particular, encourage innovation in owning a first property and require that this information be published so that others can use it as they can. In the case of patenting human genes, the exact opposite happens – these patents prevent anyone other than the patent owner from conducting research on that gene, which does not allow for a potential gain from public innovation of the patented gene (Jamison, 2015). In this case, patents are considered disruptive to scientific progress. As far as utilitarian ethics are concerned, science must not be disturbed for the greater good of the people. This report is part of the RAND Corporation`s series of research reports. Rand reports present objective research and analysis that address the challenges facing the public and private sectors. All RAND reports undergo rigorous peer review to ensure high standards of research quality and objectivity.
The National Research Council of Canada`s Committee on Emerging Issues and Data on Environmental Contaminants held a workshop on intellectual property at national academies in June 2006. Among other things, the workshop discussed the position of the National Institutes of Health (NIH) to support immediate (or immediate) dissemination and open access to human genome sequencing data. This policy, enshrined in the Bermuda Principles, has been supported by the International Organization for the Human Genome and other organizations (HUGO 1997). They have also been applied more widely and form the basis of the National Human Genome Research Institute`s guidelines for immediate or immediate disclosure of genomic information generated by NIH-funded research or collected in NIH-supported repositories. A socially disadvantaged population may also be based on common somatic mutations. For example, workers with an acquired mutation or biomarker based on a particular occupational exposure, or residents of a particular area with toxic exposure who have demonstrated the subclinical effects of a particular exposure, may also be referred to as socially vulnerable populations. These polymorphisms may not be phenotypically obvious and often are not correlated with race, ethnicity, and other traditional social categories. Rapid advances in the science of genetics and its applications have raised new and complex ethical and political questions for individuals and society. ELSI programs that identify and address these impacts have been an integral part of the U.S. HGP since its inception. These programs have resulted in a series of studies that promote education and help inform genetic research and the development of related medical and public policy.
Toxicogenomic research often uses large biological repositories and databases in anonymous, anonymized, linked or identifiable form, as well as phenotypic data in health records. The inconsistencies between the informed consent requirement of the Common Rule and the approval requirement of the HIPAA Privacy Rule weigh down and disrupt toxicogenomic research. Authors and researchers have an ethical obligation to ensure the accuracy, publication and dissemination of research results[4] and to disclose relevant corrections, retractions and errata to publishers in order to protect the scientific integrity of published evidence. Therefore, risk communication, in particular through individualised risk forecasting of toxic substances, must include initial efforts to help the public improve their health and risk awareness. Second, employers may be reluctant to hire them or assign them to work where their genetics put them at increased risk of occupational diseases. In addition to employers` illness concerns listed above, an occupational disease could result in additional costs based on workers` compensation, compliance with the Occupational Safety and Health Act of 1970, personal injury litigation and decreased employee morale. With respect to toxicogenomics in the workplace, is it legal or ethical for employers to require or require genetic testing from employees? See Box 11-1 for a more in-depth discussion of toxicogenomic research in the workplace. Given the urgency of common ethical and legal frameworks to exploit the wealth of genomic, genotypic and phenotypic data available, understanding and mapping ELSI uncertainties is crucial for the development of RbG [8, 38]. The elsh challenges related to RbG were extensively analyzed in 2013 and raised concerns that this study design has not yet been described with concise recommendations for using the approach in a broader research spectrum [31].
But are we already at the point where we have defined and refined the study design accordingly in order to use it in a broader research spectrum? The recognition of the contextual aspects of RbG through empirical, qualitative and normative research will make it possible to refine the framework of RbG in the search for balances. While pharmacogenomics holds promise for increasing drug efficacy and reducing drug-related adverse events, there is a risk of „racialization“ of medicine. It`s easy to rely on race as a substitute for genotype, but the social cost of doing so can be high. „By carelessly equating race with genetic variation and genetic variation with genotype-based drugs, we risk developing an oversimplified view of race-specific drugs and a misleading view of the scientific importance of race“ (Rothstein 2003, pp. 330). The controversy surrounding the FDA`s approval of the drug BiDil in 2005 for self-identified African Americans shows the timeliness of the problem (Saul 2005). See Box 11-3. Mascalzoni D, Biasiotto R, Borsche M, Bruggemann N, De Grandi A, Goegele M, et al. Balancing scientific interests and participants` rights when designing a recall by genotype study.
Eur J Hum Genet. 2021;29:1146â57. doi.org/10.1038/s41431-021-00860-7. The development, exploitation and protection of intellectual property are important elements of contemporary research strategies. Many of the contentious intellectual property issues, such as publication, timing of application, ownership and licensing, arise „downstream“ after the discovery of a patentable invention.