This month we have a mixture of articles from public health genomics, to the law on access to personal genome data, as well as governance structures for biobanks. As always, the presentation of an article is neither and implicit or explicit reflection of our views on quality nor is it an endorsement of a particular view.
Stuart
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Buechner B. German Ethics Council on genetic diagnostics: trend setting? Eur J Hum Genet. 2013 Oct 30. doi: 10.1038/ejhg.2013.239. [Epub ahead of print]
On 30 April 2013, the German Ethics Council (‘Council’) published its opinion on ‘The future of genetic diagnostics-from research to clinical application’ (‘the Opinion’). The Council was asked by the German government to discuss the future of genetic diagnostic methods in relation to the current applicable laws and regulations as well as the ethical stand points. The Council’s 23 recommendations show that the existing regulations in Germany, and indirectly on a European level, lack in protecting consumers sufficiently. Consumer protection built the major focus of the Council’s opinion. However, the opinion misses a critical overall analysis of genetic testing and, for example, the potential misuse of genetic test results by insures or the risk of disclosure toward employers. The Council missed an opportunity to discuss which barriers are necessary from a legal and ethical perspective but which still do not prohibit genetic testing and research. doi:10.1038/ejhg.2013.239
Patel HN, Ursan ID, Zueger PM, Cavallari LH, Pickard AS. Stakeholder Views on Pharmacogenomic Testing. Pharmacotherapy. 2013 Oct 24. doi: 10.1002/phar.1364. [Epub ahead of print]
Pharmacogenomics has an important role in the evolution of personalized medicine, and its widespread uptake may ultimately depend on the interests and perspectives of key players in health care. Our aim was to summarize studies on stakeholder perspectives and attitudes toward pharmacogenomic testing. Thus, we conducted a review of original research studies that reported stakeholder views on pharmacogenomic testing using a structured approach in PubMed, International Pharmaceutical Abstracts, Cumulative Index to Nursing and Allied Health Literature, and EMBASE. A standardized data abstraction form was developed that included stakeholder group of interest-patients, general public, providers, and payers. Stakeholder views regarding barriers to pharmacogenetic implementation were organized into the following themes: ancillary information-related, clinical, economic, educational, ethical or legal, medical mistrust, and practicality. Of 34 studies that met our inclusion criteria, 37 perspectives were reported (15 on providers, 9 on the general public, 9 on patients, and 4 on payers). The most common topics that arose in studies of providers related to clinical usefulness of genetic data (n=11) and educational needs (n=11). Among the general public, the most common concerns were medical mistrust (n=5), insufficient education (n=5), and practicality (n=5). The most prevalent issues from the patient perspective were ethical or legal (n=6) and economic (n=5) issues. Among payers, leading issues were practicality (n=4) and clinical usefulness (n=3). There was overlap in the topics and concerns across stakeholder perspectives, including lack of knowledge about pharmacogenomic testing. Views on issues related to privacy, cost, and test result dissemination varied by stakeholder perspective. Limited research had been conducted in underrepresented groups. Efforts to address the issues raised by stakeholders may facilitate the implementation of pharmacogenomic testing into clinical practice.
Bartholomaeus A, Parrott W, Bondy G, Walker K; ILSI International Food Biotechnology Committee Task Force on the Use of Mammalian Toxicology Studies in the Safety Assessment of GM Foods *. The use of whole food animal studies in the safety assessment of genetically modified crops: Limitations and recommendations. Crit Rev Toxicol. 2013 Nov;43 Suppl 2:1-24. doi: 10.3109/10408444.2013.842955.
Abstract There is disagreement internationally across major regulatory jurisdictions on the relevance and utility of whole food (WF) toxicity studies on GM crops, with no harmonization of data or regulatory requirements. The scientific value, and therefore animal ethics, of WF studies on GM crops is a matter addressable from the wealth of data available on commercialized GM crops and WF studies on irradiated foods. We reviewed available GM crop WF studies and considered the extent to which they add to the information from agronomic and compositional analyses. No WF toxicity study was identified that convincingly demonstrated toxicological concern or that called into question the adequacy, sufficiency, and reliability of safety assessments based on crop molecular characterization, transgene source, agronomic characteristics, and/or compositional analysis of the GM crop and its near-isogenic line. Predictions of safety based on crop genetics and compositional analyses have provided complete concordance with the results of well-conducted animal testing. However, this concordance is primarily due to the improbability of de novo generation of toxic substances in crop plants using genetic engineering practices and due to the weakness of WF toxicity studies in general. Thus, based on the comparative robustness and reliability of compositional and agronomic considerations and on the absence of any scientific basis for a significant potential for de novo generation of toxicologically significant compositional alterations as a sole result of transgene insertion, the conclusion of this review is that WF animal toxicity studies are unnecessary and scientifically unjustifiable.
Rizzolo P, Silvestri V, Tommasi S, Pinto R, Danza K, Falchetti M, Gulino M, Frati P, Ottini L. Male breast cancer: genetics, epigenetics, and ethical aspects. Ann Oncol. 2013 Nov;24 Suppl 8:viii75-viii82. doi: 10.1093/annonc/mdt316
BACKGROUND AND STUDY DESIGN: Male breast cancer (MBC) is a rare disease compared with female BC and our current understanding regarding breast carcinogenesis in men has been largely extrapolated from the female counterpart. We focus on differences between the ethical issues related to male and female BC patients. A systematic literature search by using PubMed (http://www.ncbi.nlm.nih.gov/pubmed/), was carried out to provide a synopsis of the current research in the field of MBC genetics, epigenetics and ethics. Original articles and reviews published up to September 2012 were selected by using the following search key words to query the PubMed website: ‘male breast cancer’, ‘male breast cancer and genetic susceptibility’, ‘male breast cancer and epigenetics’, ‘male breast cancer and methylation’, ‘male breast cancer and miRNA’, ‘male breast cancer and ethics’. RESULTS AND CONCLUSIONS: As in women, three classes of breast cancer genetic susceptibility (high, moderate, and low penetrance) are recognized in men. However, genes involved and their impact do not exactly overlap in female and male BC. Epigenetic alterations are currently scarcely investigated in MBC, however, the different methylation and miRNA expression profiles identified to date in female and male BCs suggest a potential role for epigenetic alterations as diagnostic biomarkers. Overall, much still needs to be learned about MBC and, because of its rarity, the main effort is to develop large consortia for moving forward in understanding MBC and improving the management of MBC patients on a perspective of gender medicine.
Bonanni B, Lazzeroni M. Acceptability of chemoprevention trials in high-risk subjects. Ann Oncol. 2013 Nov;24 Suppl 8:viii42-viii46. doi: 10.1093/annonc/mdt328.
The development and current widespread acceptance of clinical trials is one of the major conceptual advances in research medicine introduced during the second half of the 20th century. Despite general agreement on the scientific merits of randomization, many patients and physicians are however reluctant to participate in randomized, controlled trials. If we focus on chemoprevention in healthy subjects, it is even more essential to evaluate the ethics, logistics, patient’s and doctor’s acceptability, acute and late toxic effect, patient accrual and compliance of treatment. Furthermore, the decision-making process about participating in a cancer chemoprevention trial is often poorly understood. Adherence to a cancer prevention trial requires in fact a strong sense of awareness and an ability to carefully assess risks and benefits. We review the main aspects in the chemo-preventive approach to patients at high risk for breast and ovarian cancer, focusing on different pharmacological risk reduction strategies, ongoing phase III chemoprevention studies in carriers of BRCA1/2 germline mutation, the psychological and clinical factors implicated in decision making about a trial, and the possible impact of the trial design on the overall acceptability and adherence.
Kaye J, Kanellopoulou N, Hawkins N, Gowans H, Curren L, Melham K. CAN I ACCESS MY PERSONAL GENOME? THE CURRENT LEGAL POSITION IN THE UK. Med Law Rev. 2013 Oct 17. [Epub ahead of print]
This paper discusses the nature of genomic information, and the moral arguments in support of an individual’s right to access it. It analyses the legal avenues an individual might take to access their sequence information. The authors describe the policy implications in this area and conclude that, for now, the law appears to strike an appropriate balance, but new policy will need to be developed to address this issue.
McKee M, Schlehofer D, Thew D. Ethical Issues in Conducting Research With Deaf Populations. Am J Public Health. 2013 Oct 17. [Epub ahead of print]
Deaf American Sign Language (ASL) users represent a small population at risk for marginalization from research and surveillance activities resulting from cultural, language, and ethical challenges. The Deaf community’s view of deafness as a cultural identity, rather than a disability, contradicts the medical community’s perception of deafness as a disease or deficiency in need of correction or elimination. These differences continue to have significant cultural and social implications within the Deaf community, resulting in mistrust of research opportunities. Two particularly contentious ethical topics for the Deaf community are the absence of community representation in genetic research and the lack of accessible informed consents and research materials. This article outlines a series of innovative strategies and solutions to these issues, including the importance of community representation and collaboration with researchers studying deaf populations. doi:10.2105/AJPH.2013.301343).
Joly Y, Burton H, Knoppers BM, Feze IN, Dent T, Pashayan N, Chowdhury S, Foulkes W, Hall A, Hamet P, Kirwan N, Macdonald A, Simard J, Van Hoyweghen I. Life insurance: genomic stratification and risk classification. Eur J Hum Genet. 2013 Oct 16. doi: 10.1038/ejhg.2013.228. [Epub ahead of print]
With the development and increasing accessibility of new genomic tools such as next-generation sequencing, genome-wide association studies, and genomic stratification models, the debate on genetic discrimination in the context of life insurance became even more complex, requiring a review of current practices and the exploration of new scenarios. In this perspective, a multidisciplinary group of international experts representing different interests revisited the genetics and life insurance debate during a 2-day symposium ‘Life insurance: breast cancer research and genetic risk prediction seminar’ held in Quebec City, Canada on 24 and 25 September 2012. Having reviewed the current legal, social, and ethical issues on the use of genomic information in the context of life insurance, the Expert Group identified four main questions: (1) Have recent developments in genomics and related sciences changed the contours of the genetics and life insurance debate? (2) Are genomic results obtained in a research context relevant for life insurance underwriting? (3) Should predictive risk assessment and risk stratification models based on genomic data also be used for life insurance underwriting? (4) What positive actions could stakeholders in the debate take to alleviate concerns over the use of genomic information by life insurance underwriters? This paper presents a summary of the discussions and the specific action items recommended by the Expert Group. doi:10.1038/ejhg.2013.228.
Pashayan N, Hall A, Chowdhury S, Dent T, Pharoah PD, Burton H. Public health genomics and personalized prevention: lessons from the COGS project. J Intern Med. 2013 Nov;274(5):451-6. doi: 10.1111/joim.12094.
Using the principles of public health genomics, we examined the opportunities and challenges of implementing personalized prevention programmes for cancer at the population level. Our model-based estimates indicate that polygenic risk stratification can potentially improve the effectiveness and cost-effectiveness of screening programmes. However, compared with ‘one-size-fits-all’ screening programmes, personalized screening adds further layers of complexity to the organization of screening services and raises ethical, legal and social challenges. Before polygenic inheritance is translated into population screening strategy, evidence from empirical research and engagement with and education of the public and the health professionals are needed.
Marsh V, Kombe F, Fitzpatrick R, Williams TN, Parker M, Molyneux S. Consulting communities on feedback of genetic findings in international health research: sharing sickle cell disease and carrier information in coastal Kenya. BMC Med Ethics. 2013 Oct 14;14(1):41. [Epub ahead of print]
BACKGROUND: International health research in malaria-endemic settings may include screening for sickle cell disease, given the relationship between this important genetic condition and resistance to malaria, generating questions about whether and how findings should be disclosed. The literature on disclosing genetic findings in the context of research highlights the role of community consultation in understanding and balancing ethically important issues from participants’ perspectives, including social forms of benefit and harm, and the influence of access to care. To inform research practice locally, and contribute to policy more widely, this study aimed to explore the views of local residents in Kilifi County in coastal Kenya on how researchers should manage study-generated information on sickle cell disease and carrier status. METHODS: Between June 2010 and July 2011, we consulted 62 purposively selected Kilifi residents on how researchers should manage study-generated sickle cell disease findings. Methods drew on a series of deliberative informed small group discussions. Data were analysed thematically, using charts, to describe participants’ perceptions of the importance of disclosing findings, including reasoning, difference and underlying values. Themes were derived from the underlying research questions and from issues emerging from discussions. Data interpretation drew on relevant areas of social science and bioethics literature. RESULTS: Perceived health and social benefits generated strong support for disclosing findings on sickle cell disease, but the balance of social benefits and harms was less clear for sickle cell trait. Many forms of health and social benefits and harms of information-sharing were identified, with important underlying values related to family interests and the importance of openness. The influence of micro and macro level contextual features and prioritization of values led to marked diversity of opinion. CONCLUSIONS: The approach demonstrates a high ethical importance in many malaria endemic low-to-middle income country settings of disclosing sickle cell disease findings generated during research, alongside provision of effective care and locally-informed counselling. Since these services are central to the benefits of disclosure, health researchers whose studies include screening for sickle cell disease should actively promote the development of health policy and services for this condition in situations of unmet need, including through the prior development of collaborative partnerships with government health managers and providers. Community consultation can importantly enrich ethical debate on research practice where in-depth exploration of informed views and the potential for difference are taken into account.
Bawa, A. S.; Anilakumar, K. R. Genetically modified foods: safety, risks and public concerns-a review. JOURNAL OF FOOD SCIENCE AND TECHNOLOGY-MYSORE Volume: 50 Issue: 6 Pages: 1035-1046 DOI: 10.1007/s13197-012-0899-1
Genetic modification is a special set of gene technology that alters the genetic machinery of such living organisms as animals, plants or microorganisms. Combining genes from different organisms is known as recombinant DNA technology and the resulting organism is said to be ‘Genetically modified (GM)’, ‘Genetically engineered’ or ‘Transgenic’. The principal transgenic crops grown commercially in field are herbicide and insecticide resistant soybeans, corn, cotton and canola. Other crops grown commercially and/or field-tested are sweet potato resistant to a virus that could destroy most of the African harvest, rice with increased iron and vitamins that may alleviate chronic malnutrition in Asian countries and a variety of plants that are able to survive weather extremes. There are bananas that produce human vaccines against infectious diseases such as hepatitis B, fish that mature more quickly, fruit and nut trees that yield years earlier and plants that produce new plastics with unique properties. Technologies for genetically modifying foods offer dramatic promise for meeting some areas of greatest challenge for the 21st century. Like all new technologies, they also pose some risks, both known and unknown. Controversies and public concern surrounding GM foods and crops commonly focus on human and environmental safety, labelling and consumer choice, intellectual property rights, ethics, food security, poverty reduction and environmental conservation. With this new technology on gene manipulation what are the risks of “tampering with Mother Nature”?, what effects will this have on the environment?, what are the health concerns that consumers should be aware of? and is recombinant technology really beneficial? This review will also address some major concerns about the safety, environmental and ecological risks and health hazards involved with GM foods and recombinant technology.
Prainsack, B; Buyx, A. A SOLIDARITY-BASED APPROACH TO THE GOVERNANCE OF RESEARCH BIOBANKS. MEDICAL LAW REVIEW Volume: 21 Issue: 1 Special Issue: SI Pages: 71-91 DOI: 10.1093/medlaw/fws040
Abstract: New opportunities for large-scale data linkage and data-mining have rendered biobanks one of the core resources of medical research in the twenty-first century. At the same time, research biobanking has been seen to pose particular ethical and legal challenges pertaining to, for example, data protection, and the minimisation of other risks for participants. These measures have in turn led to heavy administrative, logistical, and financial costs and attracted criticism for unduly impeding disease research. Based on a newly formulated approach to solidarity, we propose an approach to governance that recognises peoples willingness to participate in a public research biobank, and poses stronger emphasis on harm mitigation. We argue that such a model avoids some of the pitfalls of previous approaches. It also allows moving beyond overly restrictive and burdensome, exclusively autonomy-based governance towards governance that is reflective of peoples willingness to accept costs to assist others.
Chen, HD. Governing International Biobank Collaboration: A Case Study of China Kadoorie Biobank. SCIENCE TECHNOLOGY AND SOCIETY Volume: 18 Issue: 3 Special Issue: SI Pages: 321-338 DOI: 10.1177/0971721813498497
Population-based biobanks collect donors’ biological samples and associated data, following them over time to study gene-environment interactions as causes of human diseases. International biobank collaboration is envisioned as necessary for a better understanding of causes of morbidity and mortality. However, determining how to govern international biobank collaboration remains challenging due to nations’ heterogeneous ethical and legal frameworks. This article explores how China Kadoorie Biobank (CKB), a China-UK collaborative project, coped with ethical issues, such as informed consent, benefit sharing and community engagement. The CKB case study provides insights into ethical issues and governance challenges for international biobank collaboration. The transformation of biobank research from a localised endeavour to networked, internationalised projects in the context of post-genomic medical research has created a highly challenging constellation for biobank governance. The governance of global collaboration, such as between China and the UK, will depend on developing joint governance protocols based on mutual recognition and respect.