'CTRL': an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research.

The complexities of the informed consent process for participating in research in genomic medicine are well-documented. Inspired by the potential for Dynamic Consent to increase participant choice and autonomy in decision-making, as well as the opportunities for ongoing participant engagement it affords, we wanted to trial Dynamic Consent and to do so developed our own web-based application (web app) called CTRL (control). This paper documents the design and development of CTRL, for use in the Australian Genomics study: a health services research project building evidence to inform the integration of genomic medicine into mainstream healthcare. Australian Genomics brought together a multi-disciplinary team to develop CTRL. The design and development process considered user experience; security and privacy; the application of international standards in data sharing; IT, operational and ethical issues. The CTRL tool is now being offered to participants in the study, who can use CTRL to keep personal and contact details up to date; make consent choices (including indicate preferences for return of results and future research use of biological samples, genomic and health data); follow their progress through the study; complete surveys, contact the researchers and access study news and information. While there are remaining challenges to implementing Dynamic Consent in genomic research, this study demonstrates the feasibility of building such a tool, and its ongoing use will provide evidence about the value of Dynamic Consent in large-scale genomic research programs.

Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands.

Research in genetics relies heavily on voluntary contributions of personal data. We aimed to acquire insights into the differences between participants and refusers of participation in a Dutch population-based biobank. Accordingly, we assessed the demographic and prosocial intrapersonal characteristics of respondents who participated (n = 2615) or refused to participate (n = 404) in the Lifelines biobank and databank. Our results indicated that health-related values critically influence participation decisions. The participation threshold for Lifelines was determined by an absence of health-related values and of trust in government. Therefore, considering these factors in communication and recruitment strategies could enhance participation in biomedical research. No indications were found of a stronger general prosociality of participants or their trust in researchers beyond the context of biobanking. This emphasizes the contextual understanding of the decision of participation in biobanking. Our findings may contribute to improving recruitment strategies by incorporating relevant values and/or highlighting prosocial benefits. Moreover, they foreground the need to address trust issues in collaborations between data repositories and commercial companies. Future research should explore how prosocial intrapersonal characteristics drive participation and withdrawal decisions and relate to contextual attributes.

Reflections on dynamic consent in biomedical research: the story so far.

Dynamic consent (DC) was originally developed in response to challenges to the informed consent process presented by participants agreeing to 'future research' in biobanking. In the past 12 years, it has been trialled in a number of different projects, and examined as a new approach for consent and to support patient engagement over time. There have been significant societal shifts during this time, namely in our reliance on digital tools and the use of social media, as well as a greater appreciation of the integral role of patients in biomedical research. This paper reflects on the development of DC to understand its importance in an age where digital health is becoming the norm and patients require greater oversight and control of how their data may be used in a range of settings. As well as looking back, it looks forwards to consider how DC could be further utilised to enhance the patient experience and address some of the inequalities caused by the digital divide in society.

Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany.

Making routine clinical-care-data available for medical research requires adequate consent to legitimize use and exchange. While, public interest in supporting medical research is increasing, individuals often find it difficult to actively enable researchers to access their data. In addition to broad consent, the idea of (consent-free) data donation has been brought into play as another way to legitimize secondary research use of medial data. However, flanking the implementation of broad consent policies or data donation, the attitude of patients, and the general public toward different aspects of these approaches needs to be assessed. We conducted two empirical studies to this end among Dutch patients (n = 7430) and representative German citizens (n = 1006). Wide acceptance of broad consent was observed among Dutch patients (92.3%), corroborating previous findings among German patients (93.0%). Moreover, 28.8% of the Dutch patients generally approved secondary data-use for non-academic research, 42.3% would make their decision dependent upon the type of institution in question. In the German survey addressing the general population, 78.8% approved data donation without explicit consent as an alternative model of legitimization, the majority of those who approved (96.7%) would allow donated data to be used by universities and public research institutions. This willingness to support contrasted sharply with the fact that only 16.6% would allow access to the data by industry. Our findings thus not only add empirical evidence to the debate about broad consent and data donation, but also suggest that widespread public discussion and education about the role of industry in medical research is necessary in that context.

Willingness to donate genomic and other medical data: results from Germany.

This paper reports findings from Germany-based participants in the "Your DNA, Your Say" study, a collaborative effort among researchers in more than 20 countries across the world to explore public attitudes, values and opinions towards willingness to donate genomic and other personal data for use by others. Based on a representative sample of German residents (n = 1506) who completed the German-language version of the survey, we found that views of genetic exceptionalism were less prevalent in the German-language arm of the study than in the English-language arm (43% versus 52%). Also, people's willingness to make their data available for research was lower in the German than in the English-language samples of the study (56% versus 67%). In the German sample, those who were more familiar with genetics, and those holding views of genetic exceptionalism were more likely to be willing to donate data than others. We explain these findings with reference to the important role that the "right of informational self-determination" plays in German public discourse. Rather than being a particularly strict interpretation of privacy in the sense of a right to be left alone, the German understanding of informational self-determination bestows on each citizen the responsibility to carefully consider how their personal data should be used to protect important rights and to serve the public good.

Stakeholders' perspectives on the post-mortem use of genetic and health-related data for research: a systematic review.

The majority of biobank policies and consent forms do not address post-mortem use of data for medical research, thus causing uncertainty after research participants' death. This systematic review identifies studies examining stakeholders' perspectives on this issue. We conducted a search in MEDLINE, CINAHL, EMBASE and Web of Science. Findings were categorised in two themes: (1) views on the use of data for medical research after participants' death, and (2) perspectives regarding the post-mortem return of individual genetic research results. An important subtheme was the appropriate authority and degree of control over posthumous use of data. The sixteen included studies all focused on genetic data and used quantitative and qualitative methods to survey perspectives of research participants, family members, researchers and Institutional Review Board members. Acceptability of post-mortem use of data for medical research was high among research participants and their relatives. Most stakeholders thought participants should be informed about post-mortem research uses during initial consent. Between lay persons and professionals, disagreement exists about whether relatives should receive actionable genetic findings, and whether the deceased's previous preferences can be overridden. We conclude that regulations and ethical guidance should leave room for post-mortem use of personal data for research, provided that informed consent procedures are transparent on this issue, including the return of individual research findings to relatives. Future research is needed to explore underlying causes for differences in views, as well as ethical and legal issues on the appropriate level of control by deceased research participants (while alive) and their relatives.

Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data.

Public acceptance is critical for sharing of genomic data at scale. This paper examines how acceptance of data sharing pertains to the perceived similarities and differences between DNA and other forms of personal data. It explores the perceptions of representative publics from the USA, Canada, the UK and Australia (n = 8967) towards the donation of DNA and health data. Fifty-two percent of this public held 'exceptionalist' views about genetics (i.e., believed DNA is different or 'special' compared to other types of medical information). This group was more likely to be familiar with or have had personal experience with genomics and to perceive DNA information as having personal as well as clinical and scientific value. Those with personal experience with genetics and genetic exceptionalist views were nearly six times more likely to be willing to donate their anonymous DNA and medical information for research than other respondents. Perceived harms from re-identification did not appear to dissuade publics from being willing to participate in research. The interplay between exceptionalist views about genetics and the personal, scientific and clinical value attributed to data would be a valuable focus for future research.

Personal Genetic Information about HIV: Research Participants' Views of Ethical, Social, and Behavioral Implications.

BACKGROUND: Personal genetic information (PGI) about HIV is produced in research and entering the clinic and direct-to-consumer market, but little consideration has been given to ethical and social issues, public perspectives, and potential behavioral implications. OBJECTIVES: This research queried the views of research participants at risk for or infected with HIV, exploring their perspectives on HIV-related PGI and its ethical, social, and behavioral implications. METHODS: We used focus groups to collect rich information about participants' perspectives on the ethical, social, and behavioral implications of PGI about HIV and host genetic research. We evaluated their reactions to three different types of genetic variants: those that made them more susceptible to HIV, more protected from or resistant to HIV, or more likely to transmit HIV to others. RESULTS: Overall, participants wanted PGI about HIV. Their reasons included a mix of personal or family health benefit and benefit to others, which varied in emphasis depending on variant type. While susceptibility variant information was seen primarily in terms of personal or family health benefit, for transmissibility and protective variant information, benefit to others emerged as a major reason for wanting PGI about HIV. Participants thought transmissibility variant information would help them prevent others from becoming infected, and protective variant information would allow them to volunteer for targeted research to help treat, cure, or prevent HIV. Possible harms were raised regarding the tendencies among some individuals to increase risky behavior with modulations in perceived risk. Potential behavioral implications were seen as significant, though complex, reflecting multifaceted risk perceptions. CONCLUSIONS: Our study adds to the evidence that participants in genetic research, across disease type, have a strong desire for PGI. For participants in research on the genetics of HIV, and potentially other infectious diseases, their desire for PGI is grounded in a perceived duty not to infect others, where they feel a moral responsibility regarding research participation and behavior change. Wider dissemination of HIV-related PGI may well increase research participation, but could have mixed effects on risk behavior. More research is needed on the implications of different variant types of PGI beyond susceptibility factors, especially protective variants or resistance factors.

What Is the Psychosocial Impact of Providing Genetic and Genomic Health Information to Individuals? An Overview of Systematic Reviews.

Optimistic predictions that genetic and genomic testing will provide health benefits have been tempered by the concern that individuals who receive their results may experience negative psychosocial outcomes. This potential ethical and clinical concern has prompted extensive conversations between policy-makers, health researchers, ethicists, and the general public. Fortunately, the psychosocial consequences of such testing are subject to empirical investigation, and over the past quarter century, research that clarifies some of the types, likelihood, and severity of potential harms from learning the results of the testing has accumulated. I aim to provide an overview of the findings of this research by looking at selected systematic reviews. This will convey the gist of the literature's quality and coverage, reveal gaps in existing knowledge, and highlight promising areas for future scholarship.

Reasonable expectations of privacy in non-disclosure of familial genetic risk: What is it reasonable to expect?

Where there is conflict between a patient's interests in non-disclosure of their genetic information to relatives and the relative's interest in knowing the information because it indicates their genetic risk, clinicians have customarily been able to protect themselves against legal action by maintaining confidence even if, professionally, they did not consider this to be the right thing to do. In ABC v St Georges Healthcare NHS Trust ([2017] EWCA Civ 336) the healthcare team recorded their concern about the wisdom of the patient's decision to withhold genetic risk information from his relative, but chose to respect what they considered to be an unwise choice. Even though professional guidance considers that clinicians have the discretion to breach confidence where they believe this to be justified, (Royal College of Physicians, Royal College of Pathologists and the British Society of Human Genetics, 2006; GMC, 2017) clinicians find it difficult to exercise this discretion in line with their convictions against the backdrop of the legal prioritisation of the duty to maintain confidence. Thus, the professional discretion is not being freely exercised because of doubts about the legal protection available in the event of disclosure. The reliance on consent as the legal basis for setting aside the duty of confidence often vetoes sharing information with relatives. This paper argues that an objective approach based on privacy, rather than a subjective consent-based approach, would give greater freedom to clinicians to exercise the discretion which their professional guidance affords.

Attitudes of publics who are unwilling to donate DNA data for research.

With the use of genetic technology, researchers have the potential to inform medical diagnoses and treatment in actionable ways. Accurate variant interpretation is a necessary condition for the utility of genetic technology to unfold. This relies on the ability to access large genomic datasets so that comparisons can be made between variants of interest. This can only be successful if DNA and medical data are donated by large numbers of people to 'research', including clinical, non-profit and for-profit research initiatives, in order to be accessed by scientists and clinicians worldwide. The objective of the 'Your DNA, Your Say' global survey is to explore public attitudes, values and opinions towards willingness to donate and concerns regarding the donation of one's personal data for use by others. Using a representative sample of 8967 English-speaking publics from the UK, the USA, Canada and Australia, we explore the characteristics of people who are unwilling (n = 1426) to donate their DNA and medical information, together with an exploration of their reasons. Understanding this perspective is important for making sense of the interaction between science and society. It also helps to focus engagement initiatives on the issues of concern to some publics.

A systematic literature review of individuals' perspectives on privacy and genetic information in the United States.

Concerns about genetic privacy affect individuals' willingness to accept genetic testing in clinical care and to participate in genomics research. To learn what is already known about these views, we conducted a systematic review, which ultimately analyzed 53 studies involving the perspectives of 47,974 participants on real or hypothetical privacy issues related to human genetic data. Bibliographic databases included MEDLINE, Web of Knowledge, and Sociological Abstracts. Three investigators independently screened studies against predetermined criteria and assessed risk of bias. The picture of genetic privacy that emerges from this systematic literature review is complex and riddled with gaps. When asked specifically "are you worried about genetic privacy," the general public, patients, and professionals frequently said yes. In many cases, however, that question was posed poorly or only in the most general terms. While many participants expressed concern that genomic and medical information would be revealed to others, respondents frequently seemed to conflate privacy, confidentiality, control, and security. People varied widely in how much control they wanted over the use of data. They were more concerned about use by employers, insurers, and the government than they were about researchers and commercial entities. In addition, people are often willing to give up some privacy to obtain other goods. Importantly, little attention was paid to understanding the factors-sociocultural, relational, and media-that influence people's opinions and decisions. Future investigations should explore in greater depth which concerns about genetic privacy are most salient to people and the social forces and contexts that influence those perceptions. It is also critical to identify the social practices that will make the collection and use of these data more trustworthy for participants as well as to identify the circumstances that lead people to set aside worries and decide to participate in research.

Genetic Privacy, Disease Prevention, and the Principle of Rescue.

Suppose that you have deeply personal information that you do not want to share. Further suppose that this information could help others, perhaps even saving their lives. Should you reveal the information or keep it secret? With the increasing prevalence of genetic testing, more and more people are finding themselves in this situation. Although a patient's genetic results are potentially relevant to all her biological family members, her first-degree relatives-parents, children, and full siblings-are most likely to be affected. This is especially true for genetic mutations-like those in the BRCA1 and BRCA2 genes-that are associated with a dramatically increased risk of disease. Fortunately, people are usually willing to share results with their at-risk relatives. Occasionally, however, a patient refuses to disclose her findings to anyone outside her clinical team. Ethicists have written little on patients' moral duties to their at-risk relatives. Moreover, the few accounts that have been advanced are problematic. Some unnecessarily expose patients' genetic information to relatives who are unlikely to benefit from it, and others fail to ensure that patients' most vulnerable relatives are informed of their genetic risks. Patients' duty to warn can be defended in a way that avoids these problems. I argue that the duty to share one's genetic results is grounded in the principle of rescue-the idea that one ought to prevent, reduce, or mitigate the risk of harm to another person when the expected harm is serious and the cost or risk to oneself is sufficiently moderate. When these two criteria are satisfied, a patient will most likely have a duty to warn.

Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.

BACKGROUND: Gamete and embryo donors undergo genetic screening procedures in order to maximise the health of donor-conceived offspring. In the era of genomic medicine, expanded genetic screening may be offered to donors for the purpose of avoiding transmission of harmful genetic mutations. The objective of this study was to explore the attitudes of donors and recipients toward the expanded genetic screening of donors. METHODS: Qualitative interview study with thematic analysis, undertaken in a tertiary fertility centre. Semi-structured in-depth qualitative interviews were conducted with eleven recipients and nine donors from three different cohorts (sperm, egg and embryo donors/recipients). RESULTS: Donors and recipients acknowledged the importance of genetic information and were comfortable with the existing level of genetic screening of donors. Recipients recognised some potential benefits of expanded genetic screening of donors; however both recipients and donors were apprehensive about extended genomic technologies, with concerns about how this information would be used and the ethics of genetic selectivity. CONCLUSION: Participants in donor programs support some level of genetic screening of donors, but are wary of expanding genetic screening beyond current levels.

Paternity testing under the cloak of recreational genetics.

Direct-to-consumer (DTC) internet companies are selling widely advertised and highly popular genetic ancestry tests to the broad public. These tests are often classified as falling within the scope of so-called 'recreational genetics', but little is known about the impact of using these services. In this study, a particular focus is whether minors (and under what conditions) should be able to participate in the use of these DTC tests. Current ancestry tests are easily able to reveal whether participants are related and can, therefore, also reveal misattributed paternity, with implications for the minors and adults involved in the testing. We analysed the publicly available privacy policies and terms of services of 43 DTC genetic ancestry companies to assess whether minors are able to participate in testing DTC genetic ancestry, and also whether and how companies ethically account for the potential of paternity inference. Our results indicated that the majority of DTC genetic ancestry testing companies do not specifically address whether minors are able to participate in testing. Furthermore, the majority of the policies and terms of services fail to mention the vulnerability of minors and family members in receiving unexpected information, in particular, in relation to (misattributed) paternity. Therefore, recreational genetics carries both the risk of unintentionally revealing misidentified paternity, and also the risk that fathers will deliberately use these services to test their children's paternity without revealing their intentions to the mother or any other third party.

The right to know one's genetic origins and cross-border medically assisted reproduction.

The use of donor sperm or egg for reproduction raises the issue of the right of donor-conceived individuals to know their genetic origins. This paper argues in favor of acknowledging such a right and explores the challenges that cross-border medically assisted reproduction would raise in relation to it. It first explores possible justifications for such a right by discerning its possible conceptual and empirical groundings. It describes some key ethical and policy implications of the removal of donor anonymity. It then argues that novel technologies such as mitochondrial replacement and gene editing raise new concerns in this area and may expand the scope of such a right. Finally, it argues that while many barriers to accessing information about genetic origins already exist at national levels, cross-border medically assisted reproduction may exacerbate a reality in which many individuals conceived through third-party participation are deprived of information that may be crucial to their future well-being for medical or psycho-social reasons.

Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research.

Secondary or incidental results can be identified in genomic research that increasingly uses whole exome/genome sequencing. Understanding research participants' preferences for secondary results and what influences these decisions is important for patient education, counseling, and consent, and for the development of policies regarding return of secondary results. Two hundred nineteen research participants enrolled in genomic studies were surveyed regarding hypothetical preferences for specific types of secondary results, and these preferences were correlated with demographic information and psychosocial data. The majority of research participants (73%) indicated a preference to learn about all results offered, with no clear pattern regarding which results were not desired by the remaining participants. Participants who reported greater interest in genetic privacy were less likely to indicate a preference to learn all results, as were individuals who self-identified as Jewish. Although most research participants preferred to receive all secondary results offered, a significant subset preferred to exclude some results, suggesting that an all-or-none policy would not be ideal for all participants. The correlations between preferences to receive secondary results, religious identification, and privacy concerns demonstrate the need for culturally sensitive counseling and educational materials accessible to all education levels to allow participants to make the best choices for themselves.

Attitudes towards Personal Genomics and Sharing of Genetic Data among Older Swiss Adults: A Qualitative Study.

OBJECTIVE: To assess the willingness of older Swiss adults to share genetic data for research purposes and to investigate factors that might impact their willingness to share data. METHODS: Semi-structured interviews were conducted among 40 participants (19 male and 21 female) aged between 67 and 92 years, between December 2013 and April 2014 attending the Seniorenuniversität Zürich, Switzerland. All interviews were audio-recorded, transcribed verbatim, and anonymized. For the analysis of the interviews, an initial coding scheme was developed, refined over time, and applied afterwards to all interviews. RESULTS: The majority of participants were in favor of placing genetic data to research's disposal. Participant's motivations to share data were mainly driven by altruistic reasons and by contributing to the greater good. Furthermore, several factors which might impact the willingness to share data such as sharing data with private companies, generational differences, differences between sharing genetic data or health data, and sharing due to financial incentives were highlighted. Last, some participants indicated concerns regarding data sharing such as misuse of data, the fear of becoming a transparent citizen, and data safety. However, 20% of the participants express confidence in data protection. Even participants who were skeptical in the beginning of the interviews admitted the benefits of data sharing. DISCUSSION: Overall, this study suggests older citizens are willing to share their data for research purposes. However, most of them will only contribute if their data is appropriately protected and if they trust the research institution to use the shared data responsibly. More transparency and detailed information regarding the data usage are urgently needed. There is a great need to increase the engagement of older adults in research since they present a large segment of our society - one which is often underexamined in research. CONCLUSION: Increased focus on general public engagement, especially of older adults, in scientific research activities known as "citizen science" is needed to further strengthen the uptake of personalized medicine.

Regulating biobanking with children's tissue: a legal analysis and the experts' view.

Many current paediatric studies concern relationships between genes and environment and discuss aetiology, treatment and prevention of Mendelian and multifactorial diseases. Many of these studies depend on collection and long-term storage of data and biological material from affected children in biobanks. Stored material is a source of personal information of the donor and his family and could be used in an undesirable context, potentially leading to discrimination and interfering with a child's right to an open future. Here, we address the normative framework regarding biobanking with residual tissue of children, protecting the privacy interests of young biobank donors (0-12 years). We analyse relevant legal documents concerning storage and use of children's material for research purposes. We explore the views of 17 Dutch experts involved in paediatric biobank research and focus on informed consent for donation of leftover tissue as well as disclosure of individual research findings resulting from biobank research. The results of this analysis show that experts have no clear consensus about the appropriate rules for storage of and research with children's material in biobanks. Development of a framework that provides a fair balance between fundamental paediatric research and privacy protection is necessary.

Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.

Many factors predict the intention to disclose genetic information to relatives. The article examines the impact of patients' socio-demographic factors on their intention to disclose genetic testing results to their relatives. Data were collected in eight genetic clinics in Israel. Patients were requested to fill in a questionnaire after counseling. A convenience sample of 564 participants who visited these clinics was collected for a response rate of 85 %. Of them, 282 participants came for susceptibility testing for hereditary cancers (cancer group), and 282 for genetic screening tests (prenatal group). In the cancer group, being secular and having more years of education correlated positively with the intention to disclose test results to relatives. In the prenatal group, being married and female correlated positively with the intention to disclose. In the cancer group, being religious and with less years of education correlated positively with the view that the clinician should deliver the results to the family. In the prenatal group, being male and unmarried correlated positively with this belief. In both groups, being of young age correlated with the perception that genetic information is private. Varied sociodemographic factors affect the intention to inform family members. Thus, knowing the social background of patients will shed light on people's attitudes to genetic information and will help clinicians provide effective counseling in discussions with patients about the implications of test results for relatives.