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The integration of genetic information (GI) into the electronic health record (EHR) seems inevitable as the mainstreaming of genomics continues. Such newly provided accessibility to GI could be beneficial for improving health care, as well as for supporting clinical decision-making and health management. Notwithstanding these promising benefits, the automatic integration of GI into the EHR, allowing unrestricted access to one's GI through patient portals, carries various knowledge-related risks for patients. This article is focused on the potential case of inadvertently revealing misattributed parentage through such practice. The article aims to identify key clinical and ethical implications of such revelation for adult patients. Clinical implications include, for example, altering the physician-patient interaction and the need to enhance physician's genetic literacy to improve genetic-information-specific communication skills. Ethical implications yield arguments supporting disclosure of MP, such as autonomy, individuals' right to know medical information pertaining to them, and the right to know one's genetic origins. Arguments opposing disclosure of MP centre on the right not to know GI and concerns for post-disclosure family relationships. Following the clinical and ethical analyses of these respective implications, we consider how such integration of GI into the EHR ought to be carried out, ethically. We therefore suggest a solution, featuring an autonomy-based approach, built around EHR users' right not to know. Our solution of nuanced consent options (including a 'genetic ignorance option') is designed to enable patients' informed exposure to GI through the EHR, allowing them some control over their self- and familial narrative., (© 2024 The Author(s). Bioethics published by John Wiley & Sons Ltd.)

Background: Investigative genetic genealogy (IGG) is a technique that involves uploading genotypes developed from perpetrator DNA left at a crime scene, or DNA from unidentified remains, to public genetic genealogy databases to identify genetic relatives and, through the creation of a family tree, the individual who was the source of the DNA. As policymakers demonstrate interest in regulating IGG, it is important to understand public perspectives on IGG to determine whether proposed policies are aligned with public attitudes., Methods: We conducted eight focus groups with members of the public ( N  = 72), sampled from four geographically diverse US regions, to explore general attitudes and perspectives regarding aspects of IGG practices, applications, and policies. Five major topics were explored in each focus group: when IGG should be used; who should perform IGG; how to approach consent for genetic database users; what systems of oversight should govern IGG practitioners; and whether to notify database users if their data are involved in law enforcement (LE) matching., Results: Participants were supportive of IGG in most scenarios, especially for cold and violent cases. The favorable attitudes toward IGG were, however, tempered by distrust of law enforcement among some participants. All participants agreed that databases must inform users if IGG is allowed, but they did not agree on how individual database users should be allowed to opt out or whether to notify them if their data are involved in specific investigations. All participants agreed that IGG should be subject to some prescriptive guidelines, regulations, or accountability mechanisms., Conclusions: These findings suggest broad public support for IGG, and interest in developing systems of accountability for its practice. Our study provides useful insight for policy makers, genomic database stewards, law enforcement, and other stakeholders in IGG's practice, and suggests multiple directions for future research.

Debates surrounding genetic privacy have taken on different forms over the past 30 years. Taking genetic privacy to mean an interest that individuals, families, or even communities have with respect to genetic information, we examine the metaphors used in these debates to chronicle the development of genetic privacy. In 1990-2000, we examine claims for ownership and of 'humanity' spurred by the launch of the Human Genome Project and related endeavors. In 2000-2010, we analyze the interface of law and ethics with research infrastructures such as biobanks, for which notions of citizenship and 'public goods' were central. In 2010-2020, we detail the relational turn of genetic privacy in response of large international research consortia and big data. Although each decade had its leading conceptions of genetic privacy, the subject is neither strictly chronological nor static. We conclude with reflections on the nature of genetic privacy and the necessity to bring together the unique and private genetic self with the human other., (© The Author(s) 2021. Published by Oxford University Press.)

Genetic risk information is relevant to individual patients and also their blood relatives. Health practitioners (HPs) routinely advise patients of the importance of sharing genetic information with family members, especially for clinically actionable conditions where prevention is possible. However, some patients refuse to share genetic results with at-risk relatives, and HPs must choose whether to use or disclose genetic information without consent. This requires an understanding of their legal and ethical obligations, which research shows many HPs do not have. A recent UK case held that HPs have a duty to a patient's relatives where there is a proximate relationship, to conduct a balancing exercise of the benefit of disclosure of the genetic risk information to the relative against the interest of the patient in maintaining confidentiality. In Australia, there is currently no legal duty to disclose genetic information to a patient's at-risk relatives, but there are laws and guidelines governing unconsented use/disclosure of genetic information. These laws are inconsistent across different Australian states and health contexts, requiring greater harmonisation. Here we provide an up-to-date and clinically accessible resource summarising the laws applying to HPs across Australia, and outline five Australian case studies which have arisen in clinical genetics services, regarding the disclosure of genetic results to relatives without consent. The issues addressed here are relevant to any Australian HP with access to genetic information, as well as HPs and policy-makers in other jurisdictions considering these issues., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)

The legal duty to protect patient confidentiality is common knowledge amongst healthcare professionals. However, what may not be widely known, is that this duty is not always absolute. In the United Kingdom, both the General Medical Council governing the practice of all doctors, as well as many other professional codes of practice recognise that, under certain circumstances, it may be appropriate to break confidentiality. This arises when there is a wider duty to protect the health of others, and when the risk of non-disclosure outweighs the potential harm from breaking confidentiality. We discuss this situation specifically in relation to genomic medicine where relatives in a family may have differing views on the sharing of familial genetic information. Overruling a patient's wishes is predicated on balancing the duty of care towards the patient versus protecting their relative from serious harm. We discuss the practice implications of a pivotal legal case that concluded recently in the High Court of Justice in England and Wales, ABC v St Georges Healthcare NHS Trust & Ors. Professional guidance is already clear that genetic healthcare professionals must undertake a balancing exercise to weigh up contradictory duties of care. However, the judge has provided a new legal weighting to these professional duties: 'The scope of the duty extends not only to conducting the necessary balancing exercise but also to acting in accordance with its outcome' [1: 189]. In the context of genomic medicine, this has important consequences for clinical practice.

Communicating results from genomic sequencing to family members can play an essential role allowing access to surveillance, prevention, treatment or prophylactic measures. Yet, many patients struggle with communication of these results and it is unclear to what extent this is discussed during the consent process. We conducted an online systematic search and used content analysis to explore how consent forms for genomic sequencing address communication of genetic information to family members. Our search yielded 68 consent forms from 11 countries. Although 57 forms alluded to the familial nature of results, forms varied in their discussion of the potential familial implications of results. Only 11 addressed communication of genetic information with family members, with differences in who would be responsible for this process. Several forms offered patients options regarding communication, even in countries where national guidelines and legislation allow for the disclosure of results in the absence of patient consent. These findings are concerning because they show how forms may potentially mislead patients and health care professionals about whether communication is permissible in cases where the patient does not consent. We suggest that providers and health care professionals reconsider how consent forms address communicating genetic information to family members.

Addressing Indigenous rights and interests in genetic resources has become increasingly challenging in an open science environment that promotes unrestricted access to genomic data. Although Indigenous experiences with genetic research have been shaped by a series of negative interactions, there is increasing recognition that equitable benefits can only be realized through greater participation of Indigenous communities. Issues of trust, accountability and equity underpin Indigenous critiques of genetic research and the sharing of genomic data. This Perspectives article highlights identified issues for Indigenous communities around the sharing of genomic data and suggests principles and actions that genomic researchers can adopt to recognize community rights and interests in data.

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.

The rapidly evolving popularity of direct-to-consumer genetic genealogy companies has made it possible to retrieve genomic information for unintended reasons by third parties, including the emerging use for law enforcement purposes. The question remains whether users of direct-to-consumer genetic genealogy companies and genealogical databases are aware that their genetic and/or genealogical data could be used as means to solving forensic cases. Our review of 22 companies' and databases' policies showed that only four companies have provided additional information on how law enforcement agencies should request permission to use their services for law enforcement purposes. Moreover, two databases have adopted a different approach by providing a special service for law enforcement. Although all companies and databases included in the study provide at least some provisions about police access, there is an ongoing debate over the ethics of these practices, and how to balance users' privacy with law enforcement requests.

Background: When a genetic mutation is identified in a family member (proband), internationally, it is usually the proband's or another responsible family member's role to disclose the information to at-risk relatives. However, both active and passive non-disclosure in families occurs: choosing not to communicate the information or failing to communicate the information despite intention to do so, respectively. The ethical obligations to prevent harm to at-risk relatives and promote the duty of care by genetic health professionals (GHPs) is in conflict with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband (duty of confidentiality). In New South Wales (NSW), Australia, amendments to Privacy legislation permits such disclosure to living genetic relatives with the process defined under guidelines although there is no legal duty to warn. This study assessed NSW GHP's awareness and experience of the legislation and guidelines., Methods: An online survey collected demographics; theoretical knowledge; clinical scenarios to assess application knowledge; attitudes; confidence; experience with active non-disclosure. A link to correct answers was provided after completion. Knowledge scores above the median for non-parametric data or above the mean for parametric data were classified as 'good' or 'poor'. Chi square tests assessed associations between confidence and knowledge scores., Results: While many of the 37 participants reported reading the guidelines, there was limited awareness of their scope and clinical application; that there is no legal duty to warn; and that the threat does not need to be imminent to warrant disclosure. No association between confidence and 'good' theoretical or applied clinical knowledge was identified. Uncertainty of their professional responsibility was identified and in the several case examples of active non-disclosure that were reported this uncertainty reflected the need for further understanding of the guidelines in regard to the processes required before disclosure was initiated., Conclusions: There is a need for further education and training about the guidelines associated with the legislation that would be relevant to support disclosure. The findings may inform future strategies to support introduction of policy changes in other jurisdictions where similar regulatory regimes are introduced.

Clinical genome and exome sequencing is currently used in only a small fraction of patients, yet large scale genomic initiatives are becoming more embedded in clinical services. This paper examines the ethical principles that should guide regulatory processes regarding consent and data sharing in this context. We argue that a genomic dataset administered by the health system carries substantial societal benefits, and that the collective nature of this initiative means that at least those patients who benefit from genome sequencing have an ethical obligation to share their health information. This obligation is grounded in considerations of fairness. Furthermore, we argue that the use of genomic data for the advancement of medical knowledge should be permitted without explicit consent and that international and other bodies should be granted access to these data, provided certain conditions are satisfied.

Background: As Next Generation Sequencing technologies are increasingly implemented in biomedical research and (translational) care, the number of study participants and patients who ask for release of their genomic raw data is set to increase. This raises the question whether research participants and patients have a legal and moral right to receive their genomic raw data and, if so, how this right should be implemented into practice., Methods: In a first step we clarify some central concepts such as "raw data"; in a second step we sketch the international legal framework. The third step provides an extensive ethical analysis which comprehends two parts: an evaluation of whether there is a prima facie moral right to receive one's raw data, and a contextualization and discussion of the right in light of potentially conflicting interests and rights of the data subject herself and third parties; in a last fourth step we emphasize the main practical consequences of the ethical analyses and propose recommendations for the release of raw data., Results: In several legislations like the new European General Data Protection Regulation, patients do in principle have the right to receive their raw data. However, the procedural implementation of this right and whether it involves genetic counselling is at the discretion of the Member States. Even more questions remain with respect to the research context. The ethical analysis suggests that patients and research subjects have a moral right to receive their genomic raw data and addresses aspects which are also of relevance for the legal discussion such as the costs of release of raw data and its impact on academic freedom., Conclusion: Taking into account the specific nature and implications of genomic raw data and the contexts of research and health care, several concerns and potentially conflicting interests of the data subjects themselves and involved researchers, physicians, biomedical institutions and relatives arise. Instead of using them to argue in favor of restrictions of the data subjects' legal and moral right to genomic raw data, the concerns should be addressed through provision of information and other measures. To this end, we propose relevant recommendations.

Introduction: Psychiatric genetic research has seen progress in identifying genetic risk variants associated with major mental disorders. Testing with preventive purposes is likely to be offered to high-risk individuals in the near future. It is important that genetic testing and counseling align with the interests of the patients, and these interests are likely to vary among countries and cultures. Aim: The present study aimed to compare the attitudes toward psychiatric genetic research and genetic testing in Denmark and Cuba. Materials and Methods: A survey, culturally adapted for each country, was administered to a pool of students, patients with depression, and the closest relatives of these patients. A total of 491 stakeholders from Denmark and 720 from Cuba were included in the study. Results: Significant differences between the two populations were found for general knowledge about psychiatric genetic research, whom to offer genetic testing, and to whom to entrust with psychiatric genetic information. Cuban stakeholders were more likely to feel uncomfortable about psychiatric genetic research than the Danish stakeholders. This difference might be driven by the characteristics of the health systems, sociocultural factors, and lower genetic literacy in the Cuban population. Conclusion: This study is the first to compare attitudes toward psychiatric genetic testing between a Latin American country and a Nordic country. The results reported could be valuable when designing general guidelines for psychiatric genetic testing in the future.

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., (Copyright © 2018 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

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., (Copyright © 2018. Published by Elsevier Masson SAS.)

Fear of genetic discrimination has led individuals worldwide to avoid medically recommended genetic testing and participation in genomics research, causing potential health effects as research and clinical care are stymied. In response, many countries have adopted policies that regulate how insurers, such as life, disability, or critical illness insurers, can underwrite using genetic test results. This article presents a comparison of policies in the United Kingdom, Canada, and Australia, through analysis of interviews with 59 key stakeholders representing insurance, government, advocacy, academia, and genetics. While the ultimate policy of each country is different, the policy motivations and issues raised share commonalities across the countries, particularly around themes of fairness, usefulness of genetic information, and the determination of actuarial fairness.

Protections against genetic discrimination advance genetics research and the clinical use of genetics, as well as ensure the ethical use of genetic data. Ten years after the passage of the Genetic Information Nondiscrimination Act (GINA), the American Society of Human Genetics remains a staunch advocate for GINA's strong implementation and for other laws that enhance protections for the public., (Copyright © 2018. Published by Elsevier Inc.)

Background: Genomic analysis may reveal both primary and secondary findings with direct relevance to the health of probands' biological relatives. Researchers question their obligations to return findings not only to participants but also to family members. Given the social value of privacy protection, should researchers offer a proband's results to family members, including after the proband's death?, Methods: Preferences were elicited using interviews and a survey. Respondents included probands from two pancreatic cancer research resources, plus biological and nonbiological family members. Hypothetical scenarios based on actual research findings from the two cancer research resources were presented; participants were asked return of results preferences and justifications. Interview transcripts were coded and analyzed; survey data were analyzed descriptively., Results: Fifty-one individuals (17 probands, 21 biological relatives, 13 spouses/partners) were interviewed. Subsequently, a mailed survey was returned by 464 probands, 1,040 biological family members, and 399 spouses/partners. This analysis highlights the interviews, augmented by survey findings. Probands and family members attribute great predictive power and lifesaving potential to genomic information. A majority hold that a proband's genomic results relevant to family members' health ought to be offered. While informants endorse each individual's choice whether to learn results, most express a strong moral responsibility to know and to share, particularly with the younger generation. Most have few concerns about sharing genetic information within the family; rather, their concerns focus on the health consequences of not sharing., Conclusions: Although additional studies in diverse populations are needed, policies governing return of genomic results should consider how families understand genomic data, how they value confidentiality within the family, and whether they endorse an ethics of sharing. A focus on respect for individual privacy-without attention to how the broad social and cultural context shapes preferences within families-cannot be the sole foundation of policy.

As genomic science has evolved, so have policy and practice debates about how to describe and evaluate the ways in which genomic information is treated for individuals, institutions, and society. The term genetic exceptionalism, describing the concept that genetic information is special or unique, and specifically different from other kinds of medical information, has been utilized widely, but often counterproductively in these debates. We offer genomic contextualism as a new term to frame the characteristics of genomic science in the debates. Using stasis theory to draw out the important connection between definitional issues and resulting policies, we argue that the framework of genomic contextualism is better suited to evaluating genomics and its policy-relevant features to arrive at more productive discussion and resolve policy debates.

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., (© 2019 S. Karger AG, Basel.)

Molecular pathology is becoming an increasingly important discipline in oncology as molecular tumor characteristics will increasingly determine targeted clinical cancer care. In recent years, many technological advances have taken place that contributed to the development of molecular pathology. However, attention to ethical aspects has been lagging behind as illustrated by the lack of publications or professional guidelines. Existing guidelines or publications on ethical aspects of DNA sequencing are mostly aimed at germline or tumor sequencing in clinical genetics or biomedical research settings. As a result, large differences have been demonstrated in the process of tumor sequencing analysis between laboratories. In this perspective we discuss the ethical issues to consider in molecular pathology by following the process of tumor DNA sequencing analysis from the preanalytical to postanalytical phase. For the successful and responsible use of DNA sequencing in clinical cancer care, several moral requirements must be met, for example, those related to the interpretation and returning of genetic results, informed consent, and the retrospective as well as future use of genetic data for biomedical research. Many ethical issues are new to pathology or more stringent than in current practice because DNA sequencing could yield sensitive and potentially relevant data, such as clinically significant unsolicited findings. The context of molecular pathology is unique and complex, but many issues are similar to those applicable to clinical genetics. As such, existing scholarship in this discipline may be translated to molecular pathology with some adaptations and could serve as a basis for guideline development. For responsible use and further development of clinical cancer care, we recommend that pathologists take responsibility for the adequate use of molecular analyses and be fully aware and capable of dealing with the diverse, complex, and challenging aspects of tumor DNA sequencing, including its ethical issues. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd., (Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.)

Background: Genetic information is unique among all laboratory data because it not only informs the current health of the specific person tested but may also be predictive of the future health of the individual and, to varying degrees, all biological relatives., Content: As DNA sequencing has become ubiquitous with decreasing cost, large repositories of genomic data have emerged from the domains of research, healthcare, law enforcement, international security, and recreational consumer interest (i.e., genealogy). Broadly shared genomic data are believed to be a key element for future discoveries in human disease. For example, the National Cancer Institute's Genomic Data Commons is designed to promote cancer research discoveries by providing free access to the genome data sets of 12000 cancer patients. However, in parallel with the promise of curing diseases, genomic data also have the potential for harm. Genomic data that are deidentified by standard healthcare practices (e.g., removal of name, date of birth) can be reidentified by methods that combine genomic software with publicly available demographic databases (e.g., phone book). Recent law enforcement cases (i.e., Bear Brook Murders, Golden State Killer) in the US have demonstrated the power of combining DNA profiles with genealogy databases., Summary: We examine the current environment of genomic privacy and confidentiality in the US and describe current and future risks to genomic privacy. Reidentification and inference of genetic information of biological relatives will become more important as larger databases of clinical, criminal, and recreational genomic information are developed over the next decade., (© 2018 American Association for Clinical Chemistry.)

On April 24, 2018, a suspect in California's notorious Golden State Killer cases was arrested after decades of eluding the police. Using a novel forensic approach, investigators identified the suspect by first identifying his relatives using a free, online genetic database populated by individuals researching their family trees. In the wake of the case, media outlets reported privacy concerns with police access to personal genetic data generated by or shared with genealogy services. Recent data from 1,587 survey respondents, however, provide preliminary reason to question whether such concerns have been overstated. Still, limitations on police access to genetic genealogy databases in particular may be desirable for reasons other than current public demand for them., Competing Interests: The authors have declared that no competing interests exist.

This study reports on 13 semistructured in-depth interviews to qualitatively explore the experiences of individuals who publicly shared their direct-to-consumer genetic testing results on the platform openSNP. In particular, we focused on interviewees' understanding of privacy. Participants reported that the likelihood and the magnitude of privacy harms depend on gender, ethnicity, sexual orientation, the stigma associated with certain clinical conditions, the existence of adequate legislation, and the nature of national health care systems. Some participants expressed the view that those who enjoy higher socioeconomic status or are better protected by their country's legislation have a responsibility to share their genetic data. Our study shows that people who share their genetic data publicly online-far from being insensitive to privacy risks-have a complex understanding of the social, relational, and contextual nature of genetic privacy.

There are clear benefits from genomics and health data sharing in research and in therapy for individuals across societies. At the same time, citizens have different expectations and fears about that data sharing. International legislation in relation with research ethics and practice and, particularly, data protection create a particular environment that, as is seen in the articles in part two of this special issue, are crying out for harmonisation both at a procedural but at fundamental conceptual levels. The law of data sharing is pulling in different directions. This paper poses the question, 'harmonisation, an impossible dream?' and the answer is a qualified 'no'. The paper reflects on what can be seen in the papers in part two of the special issue. It then identifies three major areas of conceptual uncertainty in the new EU General Data Protection Regulation (not because it has superiority over other jurisdictions, but because it is a recent revision of data protection law that leaves universal conceptual questions unclear). Thereafter, the potential for Artificial Intelligence to meet some of the shortcomings is discussed. The paper ends with a consideration of the conditions under which data sharing harmonisation might be achieved: an understanding of a human rights approach and citizen sensitivities in considering the 'public interest'; social liberalism as a basis of solidarity; and the profession of 'researcher'.

Regulatory compliance in the direct-to-consumer genetic testing market is highly sophisticated as there are numerous federal, state, and ethical barriers to entry. In 2010, amid an underregulated market, 23andMe sought to do what few companies in the medical industry had attempted before-disregard the guidance and requests of the US Food and Drug Administration. This regulatory strategy effectively destined the company's Personal Genome Service for failure; however, the company changed course and has been granted several regulatory clearances. This exemplifies the importance of a healthy relationship with regulatory agencies, although challenges remain. The DTC industry continues to have a perplexing regulatory framework at both the federal and state level. There are also ethical concerns with the monetization of deidentified genetic health information, as genetic data have an inherent level of identifiability and are not fully protected by the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule in these scenarios. Although some DTC tests are now cleared in the United States, the concern that a learned intermediary is needed for interpretation of results remains. The regulatory oversight of this market will need to continue to develop to ensure the protection of consumer health and privacy.

In clinical practice and in research, there is an ongoing debate on how to return incidental and secondary findings of genetic tests to patients and research participants. Previous investigations have found that most of the people most of the time are in favor of full disclosure of results. Yet, the option to reject disclosure, based on the so-called right not to know, can be valuable especially for some vulnerable subgroups of recipients. In the present study we investigated variations in informational preferences in the context of genetic testing in a large and diverse German sample. This survey examined health care professionals, patients, participants of genetic counseling sessions and members of the general population (N = 518). Survey participants were assessed regarding their openness to learning about findings under various hypothetical scenarios, as well as their attitudes about the doctor-patient-relationship in a disclosure situation and about informational transfer to third parties. While the majority of participants wanted to learn about their findings, the extent of support of disclosure varied with features of the hypothetical diagnostic scenarios (e.g., controllability of disease; abstract vs. concrete scenario description) and demographic characteristics of the subjects. For example, subjects with higher levels of education were more selective with regards to the kind of information they want to receive than those with lower levels of education. We discuss implications of these findings for the debate about the right not to know and for the clinical practice of informed consent procedures., Competing Interests: The authors have declared that no competing interests exist.

Whole genome sequencing (WGS) is increasingly being used in clinical practice. As a result, various healthcare professionals now encounter ethical dilemmas that were formerly confined within the genetics clinic. In addition to autonomy and well-being of both patients and their family members, which need to be balanced carefully, a societal perspective is also vital to ensure the ethically sound introduction of whole genome sequencing into daily practice. Important choices to be made are: who is eligible for whole genome sequencing; how can informed consent be sensibly obtained, when dealing with such vast quantities of genomic information; which type of information should be offered to patients; should professionals actively search for pathogenic mutations. The rise of WGS has an impact on the moral responsibilities incumbent on healthcare professionals and necessitates a comprehensive societal debate on the advent of personalized medicine.

Competing Interests: Competing interests: Yvonne Bombard reports grants from the Canadian Institutes of Health Research, which supported the conduct of the studies reported herein. Yvonne Bombard and Bev Heim-Myers served as expert witnesses to provide both oral and written testimony for the Parliament of Canada’s Standing Senate Committee on Human Rights on Bill S-201. Bev Heim-Myers is chair of the Canadian Coalition for Genetic Fairness, which has a membership of more than 18 not-for-profit charitable organizations.

Forensic scientists around the world are adopting new technology platforms capable of efficiently analysing a larger proportion of the human genome. Undertaking this analysis could provide significant operational benefits, particularly in giving investigators more information about the donor of genetic material, a particularly useful investigative lead. Such information could include predicting externally visible characteristics such as eye and hair colour, as well as biogeographical ancestry. This article looks at the adoption of this new technology from a privacy perspective, using this to inform and critique the application of a Privacy Impact Assessment to this emerging technology. Noting the benefits and limitations, the article develops a number of themes that would influence a model Privacy Impact Assessment as a contextual framework for forensic laboratories and law enforcement agencies considering implementing forensic DNA phenotyping for operational use., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Accurate clinical interpretation of children's whole-genome and whole-exome sequences relies on comparing the patient's linked genomic and phenotypic data with variant reference databases of both healthy and affected patients. The robustness of such comparisons, in turn, is made possible by sharing pediatric genomic and associated clinical data. Despite this, sparse ethical-legal policy attention has been paid to making such sharing routine in practice. The interdisciplinary Paediatric Task Team of the Global Alliance for Genomics and Health considered in detail the current ethical, legal, and social implications of sharing genomic and associated clinical data involving children. An initial set of points to consider was presented at a meeting of the Paediatric Task Team at the 4th Plenary of the Global Alliance for Genomics and Health. The Key Implications for Data Sharing (KIDS) framework for pediatric genomics was developed based on feedback from this group and was supplemented by findings from a critical appraisal of the data-sharing literature. The final points to consider that comprise the KIDS framework are categorized into the following 4 primary themes: children's involvement, parental consent, balancing benefits and risks, and data protection and release requirements.

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., (© 2018 The Hastings Center.)