Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research.

Various forms of private investment are considered necessary for the sustainability of biobanks, yet pose significant challenges to public trust. To manage this tension, it is vital to identify the concerns of relevant stakeholders to ensure effective and acceptable policy and practice. This research examines the aspects of commercialisation that are of most concern to the Australian public (n = 800) and patients who had donated their tissue to two large disease specific (cancer) public biobanks (n = 564). Overall, we found a commercialisation effect (higher support for public relative to private) in relation to funding, research location and access to stored biospecimens. The effect was strongest for research locations and access compared to funding. A latent class analysis revealed the pattern of concern differed, with the majority (34.1%) opposing all aspects of commercialisation, a minority supporting all (15.7%), one quarter (26.8%) opposing some (sharing and selling tissue) but not others (research locations and funding), and a group who were unsure about most aspects but opposed selling tissue (23.5%). Patient donors were found to be more accepting of and unsure about most aspects of commercialisation. Members of the (general) public who were motivated to participate in biobanking were more likely to oppose some aspects while supporting others, while those who indicated they would not donate to a biobank were more likely to oppose all aspects of commercialisation. The results suggest that approaches to policy, engagement and awareness raising need to be tailored for different publics and patient groups to increase participation.

Prohibiting Genetic Discrimination to Promote Science, Health, and 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.

Genetics and Justice: Must One Theory Fit All Contexts?

Appeals to social justice that argue medicine and healthcare should have certain priorities and not others are common. It is an obvious question to ask: What does social justice demand of the new genetic technologies? However, it is important to note that there are many theories and sub-theories of justice. There are utilitarian theories, libertarian theories, and egalitarian theories. There are so-called luck egalitarians, equality-as-fairness thinkers, and capability theorists, with each having his or her own distinctive approach to the distribution of medical goods and technologies, and to healthcare priorities. This article argues that the discussion surrounding this question is potentially hampered by an implicit assumption that if one theory of justice is applicable in one context, then it must also be applicable in others. Instead, it is proposed that one adopt the stance, influenced by Michael Waltzer, that different theories with their opposing principles may be applicable to different questions regarding justice and genetics. The specific view advanced is that to answer questions about what justice requires regarding the therapeutic and enhancement use of genetic techniques, a method of reflective equilibrium can show how intuitions, in context, may support different theories of justice. When particular pre-theoretic ethical judgments are balanced against the theories that might explain or justify them, and are in accord with what seems emotionally acceptable, then it can be seen how different general theories may be applicable in the different contexts in which questions of justice and genetics arise.

Patenting Foundational Technologies: Lessons From CRISPR and Other Core Biotechnologies.

In 2012, a new and promising gene manipulation technique, CRISPR-Cas9, was announced that seems likely to be a foundational technique in health care and agriculture. However, patents have been granted. As with other technological developments, there are concerns of social justice regarding inequalities in access. Given the technologies' "foundational" nature and societal impact, it is vital for such concerns to be translated into workable recommendations for policymakers and legislators. Colin Farrelly has proposed a moral justification for the use of patents to speed up the arrival of technology by encouraging innovation and investment. While sympathetic to his argument, this article highlights a number of problems. By examining the role of patents in CRISPR and in two previous foundational technologies, we make some recommendations for realistic and workable guidelines for patenting and licensing.

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.

STUDY QUESTION: How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? SUMMARY ANSWER: The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. WHAT IS KNOWN ALREADY: In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and ART and published an extended background paper, recommendations and two Editorials. STUDY DESIGN, SIZE, DURATION: An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project. PARTICIPANTS/MATERIALS, SETTING, METHODS: In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics and ART. MAIN RESULTS AND THE ROLE OF CHANCE: As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs to substantiate that the technique is both effective and efficient. Whole genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. LIMITATIONS, REASONS FOR CAUTION: The legal landscape regarding assisted reproduction is evolving, but still remains very heterogeneous and often contradictory. The lack of legal harmonization and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe, and beyond. WIDER IMPLICATIONS OF THE FINDINGS: This continually evolving field requires communication between the clinical genetics and IVF teams and patients to ensure that they are fully informed and can make well-considered choices. STUDY FUNDING/COMPETING INTERESTS: Funding was received from ESHRE, ESHG and EuroGentest2 European Union Coordination Action project (FP7 - HEALTH-F4-2010-26146) to support attendance at this meeting.

Genetic discrimination: international perspectives.

Genetic discrimination (GD) is a complex, multifaceted ethical, psychosocial, and legal phenomenon. It is defined as the differential treatment of asymptomatic individuals or their relatives on the basis of their real or assumed genetic characteristics. This article presents an overview of GD within the contemporary international context. It describes the concept of GD and its contextual features, reviews research evidence regarding people's experiences of GD and the impact of GD within a range of domains, and provides an overview of legal and policy responses to GD that have emerged globally. We argue that GD is a significant and internationally established phenomenon that requires multilevel responses to ensure social justice and equitable outcomes for all citizens. Future research should monitor GD and its impacts within the community as well as institutions and should evaluate the effectiveness of legislative, policy, community education, and systemic responses.

Engaging children in genomics research: decoding the meaning of assent in research.

This article considers how to approach assent from children for genomics research. We examine the "protection" rationale for assent, which emerged in the context of a historical debate regarding whether it was ever acceptable to subject children to risks of research for the benefit of others. We also consider the "development" rationale for assent, which has been articulated for pediatric clinical practice, as an alternative approach for addressing this issue. We consider these rationales in light of the more recent literature on pediatric assent in the research context, and suggest that "engagement" is a more useful construct. This construct emphasizes that children have development capacities that should be respected and includes a limited role for assent to allow children to protect themselves. Engaging children does not require disclosure of all of the benefits and risks of genomics research that might be conveyed to an adult and may permit a degree of parental control over decisions. Using a construct that emphasizes respect can also justify asking children, as they approach adulthood, about their willingness to participate in ongoing genomics research, and yet also permit research to continue if some cannot be reached to obtain consent.

Charting ELSI's future course: lessons from the recent past.

PURPOSE: We sought to examine the ethical, legal, and social implications (ELSI) literature research and scholarship types, topics, and contributing community fields of training as a first step to charting the broader ELSI community's future priorities and goals. METHODS: We categorized 642 articles and book chapters meeting inclusion criteria for content in both human genetics or genomics and ethics or ELSI during a 5-year period (2003-2008) according to research and scholarship types, topics, and the area of advanced training of the first-listed author. Research and scholarship type categories were developed and characterized through in-depth review of 95 randomly sampled publications from the larger group. RESULTS: There is a single dominant approach to ELSI, which focuses on ethical and other social issues "downstream" of advances in genomics, the contributors to which predominately have advanced training in medicine or science fields other than social science. A comparatively low percentage of publications primarily offer policy recommendations, and these are much more likely to be written by those with advanced training in law than is the case for the literature as a whole. Social science studies predominately employ qualitative methods and vary significantly with respect to the extent and types of recommendations offered. Two further types of ELSI research and scholarship offer alternative models for so-called "normative" work in this field. CONCLUSION: Considering topics, training, and types of ELSI research and scholarship from the most recent past allows for a baseline perspective that is sorely needed in charting this field's future course.

A grand challenge: providing benefits of clinical genetics to those in need.

Genetic research, techniques, and knowledge have rapidly expanded in the last two decades with the completion of the Human Genome Project and other major advances in discovery research and diagnostic technologies. Although these developments have obvious potential, they also raise significant challenges related to programs for the actual delivery of useful genetic testing and services. This challenge is particularly acute in rural and remote areas, where lack of access to genetic services is pervasive resulting in significant inequities in access and availability of services. Huntington disease, the classic example of an adult-onset hereditary disorder, is used to illustrate this concern and highlight the imperative of exploring novel mechanisms to improve access to effective genetic services. The components of an effective and practical solution strategy are outlined, including the development of innovative delivery systems such as telemedicine, web-based education tools, and cost-reduction mechanisms. A proactive approach is essential to ensure the potential benefits, and availability of clinical genetics is realized by those in need rather than just those in reach.

The establishment of an ethical guideline for genetic testing through citizen consensus via the Internet in Taiwan.

BACKGROUND: With the rapid advance of genetics, the application of genetic testing has become increasingly popular. Test results have had a tremendous impact on individuals who receive the test and his or her family. The ethical, legal, and social implications (ELSI) of genetic testing cannot be overlooked. The Internet is a potential tool for public engagement. OBJECTIVES: This study aimed at establishing ethical guidelines for genetic testing in Taiwan through a participatory citizen consensus approach via the Internet. METHODS: The research method used was a citizen consensus conference modified by an Internet application and the Delphi technique. The citizen consensus conference is one of the public participation mechanisms. The draft ethical guidelines for genetic testing were written by an expert panel of 10. The Delphi technique was applied to a citizen panel recruited via the Internet until a consensus was reached. Our research population was restricted to people who had Internet access. RESULTS: Included in the citizen panel were 100 individuals. A total of 3 individuals dropped out of the process. The citizen panel was exposed to the issues through Internet learning and sharing. In all, 3 rounds of anonymous questionnaires were administered before a consensus was reached in terms of importance and feasibility. The result was ethical guidelines composed of 4 categories and 25 items. The 4 categories encompassed decision making (6 items), management of tissue samples (5 items), release of results (8 items), and information flow (6 items). On a scale of 1 to 10, the average (SD) importance score for the decision-making category was 9.41 (SD 0.58); for the management of tissue samples category, the average score was 9.62 (SD 0.49); for the release of results category, the average score was 9.34 (SD= 0.59); and for the information flow category, the average score was 9.6 (SD = 0.43). Exploratory analyses indicated that participants with higher education tended to attribute more importance to these guidelines. CONCLUSIONS: The resulting recommended ethical guidelines had 4 categories and 25 items. We hope through the implementation of these guidelines that mutual trust can be established between health care profession and the general public with respect to genetic tests.

Report on the 6th African Society of Human Genetics (AfSHG) Meeting, March 12-15, 2009, Yaounde, Cameroon.

The African Society of Human Genetics (AfSHG), founded in 2003 with its inaugural meeting in Accra, Ghana,1 has the stated missions of (1) disseminating information about human genetics research in Africa, (2) establishing a mentorship network providing educational resources, including the development of appropriate technology transfer, (3) providing advocacy for human genetic research in Africa, and (4) encouraging collaborative research. Despite its young age, the AfSHG has developed a strong cadre of active researchers, both within and outside of Africa, with more than 400 members (from 16 countries across Africa as well as 8 other countries), and has held six successful meetings, five in Africa and one in the United States.

Nursing advocacy in a postgenomic age.

The Human Genome Project will change how health is defined and how disease is prevented, diagnosed, and treated. As the largest group of health care providers in contact with patients, nurses need to be competent in the science of genetics. Beyond this, nurses need to understand the complexities that arise in genomic health care. Ethical, legal, and social issues are integral to the delivery of genomic health care, and nurses must have an astute understanding of such complexities. What it means to know, to reason, and to act in this postgenomic age is explored.