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Article round-up: May 2011

6 May 2011

de Vries, J; Bull, SJ; Doumbo, O; Ibrahim, M; Mercereau-Puijalon, O; Kwiatkowski, D; Parker, M. Ethical issues in human genomics research in developing countries. BMC MEDICAL ETHICS 12: Art. No. 5 MAR 18 2011

Background: Genome-wide association studies (GWAS) provide a powerful means of identifying genetic variants that play a role in common diseases. Such studies present important ethical challenges. An increasing number of GWAS is taking place in lower income countries and there is a pressing need to identify the particular ethical challenges arising in such contexts. In this paper, we draw upon the experiences of the MalariaGEN Consortium to identify specific ethical issues raised by such research in Africa, Asia and Oceania. Discussion: We explore ethical issues in three key areas: protecting the interests of research participants, regulation of international collaborative genomics research and protecting the interests of scientists in low income countries. With regard to participants, important challenges are raised about community consultation and consent. Genomics research raises ethical and governance issues about sample export and ownership, about the use of archived samples and about the complexity of reviewing such large international projects. In the context of protecting the interests of researchers in low income countries, we discuss aspects of data sharing and capacity building that need to be considered for sustainable and mutually beneficial collaborations. Summary: Many ethical issues are raised when genomics research is conducted on populations that are characterised by lower average income and literacy levels, such as the populations included in MalariaGEN. It is important that such issues are appropriately addressed in such research. Our experience suggests that the ethical issues in genomics research can best be identified, analysed and addressed where ethics is embedded in the design and implementation of such research projects.

Li, C. Personalized medicine – the promised land: are we there yet? CLINICAL GENETICS 79 (5): 403-412 MAY 2011

The delivery of personalized genomic medicine (refer <link rid=”t1″>Table 1 for a comparison of genomic vs genetic medicine and box 1 for glossary) hinges on obtaining personal genomic data through genome-wide association studies (GWAS) or whole-genome sequencing. After the completion of the human genome project (see box 2 for human genome projects and its derivative projects) in 2003, there appeared to be a period of euphoric optimism that as soon as the cost of sequencing the whole human genome could be brought down to an affordable range, the promise of personalized medicine would become a reality. However, inasmuch as the miraculous technological advancements are making whole-genome data acquisition an inexpensive reality, we are also starting to appreciate that making sense of the enormous amount of genomic data is a far bigger hurdle. Issues, both scientific and ethico -legal, will have to be addressed as genomic data are been pushed for clinical and direct-to-consumer utilization.

Navon, D. Genomic designation: How genetics can delineate new, phenotypically diffuse medical categories. SOCIAL STUDIES OF SCIENCE 41 (2): 203-226 APR 2011

This paper reports and discusses ‘ genomic designation’ as a way of classifying people. In genomic designation the object of biomedical analysis – and the concomitant medical category that is subject to scientific, clinical, and social action – is delineated on a genomic basis, while the phenotype is decentralized and tabulated post factum. Unlike prominent sociological concepts such as biosociality or geneticization , where genetic proclivities for or explanations of phenotypic categories affect social processes, genomic designation treats characteristics of the genome as the essential referent of new categories of illness. I outline the relevant sociological literature and the shift to what Nikolas Rose has called the ‘molecular gaze’ before explicating the concept of genomic designation and its half-century history. I use 22q13 Deletion/Phelan-McDermid syndrome as an example of genomic designation: investigations into the deletion of genetic material at site q13 on the 22nd chromosome preceded and made practicable the delineation of a syndrome more than a decade later, even though the associated phenotype is not distinct enough for diagnosis. Finally, I discuss the implications of this turn to ‘rigidly designate’ kinds of people according to observations made at the level of the genome and outline directions for future research.

Gollust, SE; Lantz, PM; Ubel, PA. Images of Illness: How Causal Claims and Racial Associations Influence Public Preferences toward Diabetes Research Spending. JOURNAL OF HEALTH POLITICS POLICY AND LAW 35 (6): 921-959 DEC 2010

Despite the salience of health disparities in media and policy discourse, little previous research has investigated if imagery associating an illness with a certain racial group influences public perceptions. This study evaluated the influence of the media’s presentation of the causes of type 2 diabetes and its implicit racial associations on attitudes toward people with diabetes and preferences toward research spending. Survey participants who viewed an article on genetic causation or social determinants of diabetes were more likely to support increased government spending on research than those viewing an article with no causal language, while participants viewing an article on behavioral choices were more likely to attribute negative stereotypes to people with diabetes. Participants who viewed a photo of a black woman accompanying the article were less likely to endorse negative stereotypes than those viewing a photo of a white woman, but those who viewed a photo of a glucose-testing device expressed the lowest negative stereotypes. The effect of social determinants language was significantly different for blacks and whites, lowering stereotypes only among blacks. Emphasizing the behavioral causes of diabetes, as is common in media coverage, may perpetuate negative stereotypes. While drawing attention to the social determinants that shape these behaviors could mitigate stereotypes, this strategy is unlikely to influence the public uniformly.

Douglas, C; Goulding, R; Farris, L; Atkinson-Grosjean, J. Socio-Cultural Characteristics of Usability of Bioinformatics Databases and Tools. INTERDISCIPLINARY SCIENCE REVIEWS 36 (1): 55-71 MAR 2011

With the increasing importance of the usability of bioinformatics systems and databases, this paper examines the socio-cultural characteristics that may affect the usability of such tools. We understand socio-cultural characteristics to be the norms, values, and beliefs that mediate the interactions between the structures and institutions of science (i.e. disciplines, universities, funding organizations), and its practitioners. These factors are not necessarily distinct from the technical features of a database, but do nevertheless affect the context in which one chooses to use a particular set of tools. We have developed three socio-cultural characteristics of bioinformatics database usability: accessibility, utility, and portability. By ‘accessibility’, we mean the social and cultural attributes that make resources open and available for use, such as intellectual property arrangements or institutional reputation and prestige. ‘Utility’ in this context means the perceived usefulness of a database, which can be determined by non-technical matters such as trust and taste. ‘Portability’ refers to the social aspects of criteria such as maintenance funding, and input and storing standards that allow a database to move through space and time. In this article, we call for a social science research programme on these – and other – socio-cultural characteristics to usability. We invite researchers in human-computer interaction, bioinformatics, usability engineering and other areas to extend their work to examine the social contexts in which these systems are used, and the sociocultural factors that mediate their use. Such a research programme would increase the multidisciplinary nature of these emergent fields, and help address the complexities of work in the post- genomic era.

Arribas-Ayllon, M; Featherstone, K; Atkinson, P. The practical ethics of genetic responsibility: Non-disclosure and the autonomy of affect. SOCIAL THEORY & HEALTH 9 (1): 3-23 FEB 2011

Some have argued that advances in molecular genetics will lead to the geneticisation of identity and the subsequent reduction of the human subject to their genetic complement. In this article, we advance the more cautious argument that far from reducing subjectivity to genetics , genetic knowledge is incorporated and resisted in complex ways. We draw our analysis from a sample of individuals who have attended a clinical genetic service in South Wales. In-depth qualitative interviews (n = 61) were conducted with family members to explore the ways in which genetic risk foregrounds patterns of relatedness and responsibility. A surprisingly high incidence of non-disclosure of risk was reported in our study. Families provided complex explanations of guilt, blame, character and surveillance to justify deferring or delaying disclosure of risk. We explain these findings in terms of conditions immanent to the materiality of everyday experience. Our account of ‘practical ethics ‘ combines discursive and pre-discursive explanations to explore the role of inheritance, kinship and affect in the modulation of genetic responsibility.

Anderson, C; Stackhouse, R; Shaw, A; Iredale, R. The National DNA Database on trial: engaging young people in South Wales with genetics . PUBLIC UNDERSTANDING OF SCIENCE 20 (2): 146-162 MAR 2011

While there has been research conducted on public views about ethical and social aspects of the National DNA Database (NDNAD), there is little which focuses on views of young people, in particular those whose details are held on the NDNAD. We describe an engagement activity developed in South Wales to engage young offenders with ethical and social issues surrounding the NDNAD – a Mock Trial – and how we facilitated the presentation of their views to policy makers. We discuss the successes and challenges we encountered with engaging young offenders, decisions that the young people reached about possible future policies for the NDNAD at the Mock Trial, and their contribution to the decision-making process.

Hens, K; Nys, H; Cassiman, JJ; Dierickx, K. The Storage and Use of Biological Tissue Samples from Minors for Research: A Focus Group Study. PUBLIC HEALTH GENOMICS 14 (2): 68-76 2011

Genetic research on pediatric stored tissue samples raises specific ethical questions that differ from those raised when adults are the donors. To investigate opinions on this matter, we conducted 10 focus group discussions. Five focus groups were conducted with adult participants and 5 had teenage participants between 15 and 19 years old. The discussions were analyzed with NVIVO 8 (qualitative research software). We found the following recurrent categories: the requirement that research should not pose any burden on children and that it should benefit other children, the trust people had in the role of parents, the need for information and the growth towards autonomy. Both the adults and teenagers we interviewed thought that the inclusion of tissue samples from minors in research had ethical implications. A major concern was that nontherapeutic research would pose no extra burden on children, which would assume the use of nonintrusive methods of gathering samples and the use of samples that were gathered in a diagnostic context. Participants, however, also understood the necessity of such research. The overall impression was that parents would be the best persons to make decisions on behalf of a small child and that the same parents would engage their children in the decision-making when they grew older. People thought that there was a duty to recontact minors when they reached the age of competence but on a best-effort basis.

Alford, SH; McBride, CM; Reid, RJ; Larson, EB; Baxevanis, AD; Brody, LC. Participation in Genetic Testing Research Varies by Social Group. PUBLIC HEALTH GENOMICS 14 (2): 85-93 2011

Background: Advances in technology have made individual access to personal genetic information foreseeable in the near future. Policy makers and the media forecast that the ready availability of personal genetic profiles would benefit both the individual and the health care system by improving outcomes and decreasing cost. However, there is a significant gap between having access to genetic data and either wanting or understanding the information it provides. Objective: Our primary aim was to evaluate, using a population-based sample of healthy adults, whether gender, race and education status influences interest and participation in a multiplex genetic susceptibility test. Methods: Healthy, insured individuals, 25-40 years of age, were approached via a large, integrated health system in which primary and specialty care is available. Study participants were offered personalized genetic risk information on 8 common chronic health conditions. Social groups historic:ally known not to participate in genetic research (men, African Americans and those from lower education neighborhoods) were oversampled. We describe the recruitment outcomes and testing decisions of these social groups. Results: We found that even among those with access to health care, African Americans were less likely to participate in the multiplex genetic susceptibility test, while those from higher education neighborhoods were more likely to participate. Conclusions: Our results suggest that large social groups will likely be underrepresented in research in personalized genomics even when robust population-based recruitment strategies are employed. 

Wilmut, I; Wongtawan, T; Quigley, M; Sullivan, G. Biomedical and social contributions to sustainability. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY A-MATHEMATICAL PHYSICAL AND ENGINEERING SCIENCES 369 (1942): 1730-1747 MAY 13 2011

Over the past two or three centuries, biomedical advances have provided methods to prevent and treat infectious diseases. These changes have greatly reduced human suffering and enhanced sustainability by allowing people to live longer and healthier lives. The challenge for the coming centuries will be to ensure that these longer, healthier lives are also more productive lives. We must build on the gains of the past by translating new discoveries in regenerative medicine into therapies for degenerative and genetic diseases. Stem cells may be used to identify drugs that prevent the development of symptoms or to replace cells that have either died or lost their physiological function. In the case of genetic diseases, it may be possible to correct the genetic error. While most conditions that might be treated in these ways are common to all communities, some are more prevalent in specific races. Provision of these and other benefits depends not only on attainment of the research objectives, but also upon our ability to make treatment opportunities available throughout both developed and developing communities. The long history of researching and treating infectious diseases shows that it may take many decades to reap the full benefit of the new biological understanding.

Wiesemann, C. Is there a right not to know one’s sex? The ethics of ‘gender verification’ in women’s sports competition. JOURNAL OF MEDICAL ETHICS 37 (4): 216-220 APR 2011

The paper discusses the current medical practice of ‘gender verification’ in sports from an ethical point of view. It takes the recent public discussion about 800 m runner Caster Semenya as a starting point. At the World Championships in Athletics 2009 in Berlin, Germany, Semenya was challenged by competitors as being a so called ‘sex impostor’. A medical examination to verify her sex ensued. The author analyses whether athletes like Semenya could claim a right not to know that is generally acknowledged in human genetics and enforced by international and national genetic privacy laws. The relevance of this right for genetic diagnosis in sports is discussed. To this end, the interests of the athlete concerned and of third parties are balanced according to the expected benefits and harms. Harm is documented in a number of cases and includes unjustified disqualification, severe sex and gender identity crisis, demeaning reactions, social isolation, depression and suicide. Benefits are dubious as most cases of intersex are considered irrelevant for sports competition. It has to be concluded that the benefits to be gained from ‘gender verification’ in sports via genetic testing do not outweigh the grave individual disadvantages. The current practice of athletic associations to largely ignore the right of competitors not to know does not comply with prevailing ethical provisions on the protection of sensitive personal data. Therefore, genetic ‘gender verification’ in sports should be abolished.

Richer, J; Ghebremichael, MS; Chudley, AE; Robinson, WM; Wilfond, BS; Solomon, MZ. Research use of leftover newborn bloodspots: Attitudes of Canadian geneticists regarding storage and informed consent requirements. GENETICS IN MEDICINE 13 (4): 305-313 APR 2011

Purpose: Leftover newborn spots can provide a powerful research tool as a population-wide DNA bank. Some provinces/states store them for more than 20 years; however, parents are usually not informed of the retention of leftover newborn spots. To examine the opinions of Canadian geneticists regarding permission for leftover newborn spots storage for research purposes and the associated risks, a web-based survey was distributed to all members of the Canadian College of Medical Geneticists with a valid e-mail address (n = 209) and completed by 78 respondents (37%). Results: The majority of respondents (73%) favored opt-out notification for retention of samples that would be held for longer than 2 years. For research on multifactorial conditions using leftover newborn spots originally banked without parental permission, geneticists favored different types of permission depending on the level of identifiable information attached to samples. Thirty-eight percent were concerned that information pamphlets that state that leftover newborn spots will be stored and may be “a source of DNA for research” would lead to a decreased participation in newborn screening. Twenty-eight percent believed that group stigma or family anxiety was likely to result from using nonidentified leftover newborn spots to study multifactorial conditions. Conclusion: The concerns of this knowledgeable cohort supports the critical importance of public engagement about both the potential risks and societal benefits associated with the use of leftover newborn spots in research as policy for leftover newborn spots is developed.

Hock, KT; Christensen, KD; Yashar, BM; Roberts, JS; Gollust, SE; Uhlmann, WR. Direct-to-consumer genetic testing: An assessment of genetic counselors’ knowledge and beliefs. GENETICS IN MEDICINE 13 (4): 325-332 APR 2011

Purpose: Direct-to-consumer genetic testing is a new means of obtaining genetic testing outside of a traditional clinical setting. This study assesses genetic counselors’ experience, knowledge, and beliefs regarding direct-to-consumer genetic testing for tests that would currently be offered in genetics clinics. Methods: Members of the National Society of Genetic Counselors completed a web-administered survey in February 2008. Results: Response rate was 36%; the final data analysis included 312 respondents. Eighty-three percent of respondents had two or fewer inquiries about direct-to-consumer genetic testing, and 14% had received requests for test interpretation or discussion. Respondents believed that genetic counselors have a professional obligation to be knowledgeable about direct-to-consumer genetic testing (55%) and interpret results (48%). Fifty-one percent of respondents thought genetic testing should be limited to a clinical setting; 56% agreed direct-to-consumer genetic testing is acceptable if genetic counseling is provided. More than 70% of respondents would definitely or possibly consider direct-to-consumer testing for patients who (1) have concerns about genetic discrimination, (2) want anonymous testing, or (3) have geographic constraints. Conclusions: Results indicate that genetic counselors have limited patient experiences with direct-to-consumer genetic testing and are cautiously considering if and under what circumstances this approach should be used. 

Chubak, B; Heald, B; Sharp, RR. Informed consent to microsatellite instability and immunohistochemistry screening for Lynch syndrome. GENETICS IN MEDICINE 13 (4): 356-360 APR 2011

Objective: Routine microsatellite instability and immunohistochemistry screening of colorectal cancers can assist in identifying a significant proportion of cancers attributable to Lynch syndrome. This article considers whether it is necessary to obtain patient informed consent for microsatellite instability and immunohistochemistry screening. Results: Although microsatellite instability screening examines genetic features of a tumor, it lacks several important characteristics that typically mandate formal informed consent to genetic testing. Microsatellite instability screening describes discrete tissue samples and does not provide information about the rest of the patient’s body or germline. In contrast, immunohistochemistry screening is a proteomic test that may reveal information about the patient’s germline. As such, immunohistochemistry screening can be viewed as similar to other forms of genetic testing, in which explicit patient consent is regarded as an ethical prerequisite. Conclusion: There is no ethical requirement to obtain explicit informed consent for microsatellite instability screening of colorectal tumor samples for Lynch syndrome. There is support for obtaining patient consent to immunohistochemistry testing, given its similarities with other genetic analyses for which informed consent is typically deemed necessary. Regardless of which screening test is used, it is important to prepare patients and their families for the possibility of a positive screening test.

One Comment leave one →
  1. 6 May 2011 17:35

    Thanks Stuart, this is a great resource

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