The importance of respecting individual choices to know or not know is widely recognised, though some norms emphasise respect for personal preferences. Another troubling observation is that requirements for data quality, variant assessment, and the effective communication of results are evolving in uneven ways. There is a growing gap between researchers with the expertise, infrastructure, and resources to meet these requirements and those without, threatening international collaboration.
Best practices for the return of individual genomic results are sorely needed to inform not only the ethical return of results, but also future legislative and policy efforts. The return of individual results and incidental findings in research is fraught with ethical and practical complexity, especially where participants undergo whole genome sequencing WGS. Legal and policy uncertainty is increased by inconsistent interpretations by research ethics committees RECs [ 3 ]. Some uncertainty is inescapable, given the heterogeneity of research areas incorporating genomics.
Discrepancies between regulatory frameworks create additional complications for international research collaborations, prompting calls for harmonisation [ 4 , 5 ]. Policies are also rapidly evolving in the clinical context. While clinical policies may inspire research practices, this can also expand expertise, resource, and infrastructure requirements in unforeseen ways.
We reviewed laws and policies governing research involving genomic sequencing across 20 countries, in order to inform the content, possibilities, and limits of harmonising return of results policies internationally. Key definitions are provided in Box 1. Discrepancies between laws and policies are particularly problematic for international collaboration, as they cannot simply be reconciled by research governance e.
Conflicts of law or policy may only be harmonised by amendment. Our comparison of regulatory instruments begins with a review of A general principles; and B human rights, namely the right to know, not to know, and the right to access. We reviewed international, regional, and national laws and policies applying to research involving genomic sequencing. We began with documents identified in three previous systematic reviews [ 7 , 8 , 9 ]. We then reviewed all documents in the most recent version of the comprehensive International Compilation of Human Research Standards [ 10 ].
Additionally, we searched the the PopGen Module of the HumGen database a specialised database composed of norms applying to population biobanking [ 11 , 12 ] and the websites of the International Federation of Human Genetics Societies [ 13 ]. We included international, regional, and national norms that are current i. Disagreement between coders was resolved by a group discussion with all three authors.
Footnote 1 Norms were included if an official version, official translation, or reliable peer-reviewed summary article was available in English or French.
For policies, we included position papers, reports, guidelines, or consensus statements issued by governmental or non-governmental health organisations, bioethics committees, and professional associations. Our methodology has certain limitations. We also did not explore norms specific to paediatric or incompetent adults contexts [ 7 ]. Some norms had return of results provisions for both a general domain e. We begin by introducing general principles guiding the return of results, citing some examples from policy documents: 1.
The rights and interests of participants take precedence over the goals of research to generate new knowledge [6, art. Researchers have some level of responsibility for the welfare of participants, and are responsible for their protection and for mitigating the risks of their participation in research . Consent to research is informed, voluntary and ongoing . Participants have a right to know information relevant to their health. The wishes of participants not to know health information, however, are also to be respected [1, art.
Research policies on the return of results should be informed by participant and community engagement [8;41]. Researchers have a duty to share general results of research with the public and with participants. This latter principle relates to transparency and public accountability, and could mistakenly be interpreted to encompass individual results, as well as aggregate results .
Participants have the right to access their personal health data . High-level principles are not sufficient to guide the return of results in all research contexts. There is often legitimate disagreement over the priority or application of these principles in return of results contexts, e. Law and policy making efforts have responded by trying to articulate clearly defined rules for the return of results.
As we discuss below, this may not be a helpful development, especially from the perspective of international research collaboration. The right to know underpins policies requiring researchers to return clinically relevant information to participants discussed below. This right is often implemented by offering participants choices about return of results e. Other norms, while respecting the right not to know in principle, express practical concerns about informed choices not to know in the context of genomics.
These guidelines also suggest that researchers should override wishes not to know for life-threatening or disability-preventing findings for relatives. This right is distinct from a researcher duty to return results. Moreover, the European General Data Protection Regulation GDPR provides individuals a right to access their personal data, though nations can establish exceptions in the research context [14, arts. Similar to our discussion of general principles above, there is disagreement over how human rights apply to the return of results.
Sometimes, the return of results is conceptualised as posing a risk of economic or psychological harm, such as genetic discrimination. Numerous national laws [24;28] and policies [30;32;39;40;41] therefore recommend or require participants be informed of the return policy during the consent process before consenting. The US Common Rule does not require a particular return approach, but requires consents to explain when clinically relevant research results will be disclosed or not, and under what conditions .
Other norms extend beyond providing information, and encourage or require researchers to offer participants a choice about receiving results e. Participants may be harmed if they assume that receiving no results means nothing is wrong or, from a research study, believing they will receive personal benefit from the return of results. Such a diversity of consent policies raises challenges for research combining datasets across multiple jurisdictions. Prospective collaborations struggle to tailor consent clauses that satisfy multiple REBs.
These logistical issues become more complex as datasets continue to be combined, shared and reused over time. In particular, approaches that favour informing participants that they may receive results may be difficult to harmonise with the US approach that favours informing participants that they may not receive results. A number of laws and policies state rules concerning the return of results.
Rules requiring return of certain types of findings are most problematic for international harmonisation.
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Researchers might have to impose the same rule on their international collaborators, e. Collaborators with limited resources or uncertain of what this responsibility entails could refuse such a strict term. The most common reasons for prohibiting or recommending against return are uncertainty over the scientific validity or utility of information for participants. Uncertainty often stems from resource, infrastructure or expertise limitations in a given research context.
Prohibitions and requirements are most likely to conflict. Researchers could face a double bind if prohibitions on returning certain results are also interpreted to apply to individual access requests. On the one hand, conditions can provide a loophole for researchers or their international collaborators not to return results.
On the other hand, if conditions are interpreted as requirements of ethical research, they can effectively prohibit research or international collaboration where sufficient resources are not available. Many international and national guidelines recommend that research projects establish a plan for handling individual results, for review in advance by a REC [8 G; 10, art. Where a plan has been established in advance, the possibility or not of a return of individual results can also be explained in the consent [8, G; 28; 30, s 3.
A dimension not often considered in such plans is sample or data sharing. Furthermore, international researchers without comparable resources, infrastructure or expertise may be precluded from collaboration. Additional procedural inconsistencies could complicate international collaboration. Norms differ as to whether retrievable results should first be assessed by a physician, an REB [37;38;41;42;44;45], or an interdisciplinary expert committee e.
When results are returned, the provision of clinical care or genetic counselling may be required. A number of policies also recommend that counselling should be provided, or at least be considered in the return of results plan [2;4;8;10;11;29—31;33;36;37;42;44;45]. Dilemmas arise where researchers want to return a result through an international collaborator, but the collaborator does not provide a comparable level of support to ensure the communication is effective and ethical.
The problem with procedural requirements is they assume particular resources are in place. These assumptions may not hold where collaborations extend across sectors or jurisdictions.
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Concerned that genomic sequencing will inundate clinicians and patients with results of uncertain validity, significance and actionability, clinical norms generally recommend a gene panel approach. With the exception of translational genomics projects seeking to assess the value of using WGS in the clinic, an active search for secondary findings will not be appropriate in research contexts lacking the expertise, infrastructure and resources of clinical organisations.
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France requires physicians via an intermediary to report potentially serious genetic test results to family members if the individual refuses to do so [20, art. Carrier status may include information about autosomal recessive disease that pass on to future children and X-linked disease for women carriers. Such results may also be important for relatives [22, art.
The US Presidential Commission for the Study of Bioethical Issues of recommends that professional organisations develop guidelines for the return of incidental and secondary results that take into account the personal utility of results . Yet, the USA NASEM report warns investigators against making assumptions about what people value, and outlines strategies for incorporating participant needs, preferences, and values into decisions about the return of individual results e. Personal utility can be grouped under 3 main categories: affective, cognitive, and behavioural [ 25 ]. For instance, personal utility can be seen as the emotional state of individuals in situations when they have to cope with findings indicating health risk affective ; how individuals value the genetic information from test results disclosed to them and how they conceptualise genetics in their disease aetiology cognitive ; how individuals plan their future in view of recently disclosed genetic results, particularly with the subject of reproduction and, how they handle communications with family members on the subject of shared genetic traits behavioural.
Affected persons, as opposed to health professionals, tend to see utility beyond improved healthcare outcomes, including life and family planning, relief and justification, self-knowledge and self-determination [ 26 ]. On one hand, expansion of the meaning of utility may be welcome from a beneficence point of view. On the other hand, this expansion complicates interpretation and assessment of results, perhaps at significant expense for researchers.
We also see that this expansion is uneven across jurisdictions. This generates discrepancies across jurisdictions that may take international collaborations significant time and effort to clarify.
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A major concern for sequencing and return of individual results in the research context is data quality. There is significant debate about how to handle the questionable analytic validity of genomic sequencing and clinical validity of research findings. This is an area experiencing rapid international divergence. Particularly problematic for international collaboration are prohibitions on the return of results not generated in clinically accredited laboratories the US position .
The USA NASEM report, while highlighting the importance of quality, recommends a more flexible approach including certification for or case-by-case quality assessment of research laboratories [41, Recommendation 3]. Strict quality requirements preclude return of results and increase the costs of research but constitute an ethical imperative that is often forgotten, especially considering the overlap between research and clinic.
Some forms of potential misuse of genomic data are now prohibited by law.