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Article round-up: January 2011

14 January 2011

A brief hiatus caused by Christmas and a *successful* viva but new year, new start. So to start the new year a bumper article round-up. Comments welcome as always.

Stuart

Benedetti, F; Carlino, E; Pollo, A. How Placebos Change the Patient’s Brain. NEUROPSYCHOPHARMACOLOGY 36 (1): 339-354 JAN 2011

Although placebos have long been considered a nuisance in clinical research, today they represent an active and productive field of research and, because of the involvement of many mechanisms, the study of the placebo effect can actually be viewed as a melting pot of concepts and ideas for neuroscience. Indeed, there exists not a single but many placebo effects, with different mechanisms and in different systems, medical conditions, and therapeutic interventions. For example, brain mechanisms of expectation, anxiety, and reward are all involved, as well as a variety of learning phenomena, such as Pavlovian conditioning, cognitive, and social learning. There is also some experimental evidence of different genetic variants in placebo responsiveness. The most productive models to better understand the neurobiology of the placebo effect are pain and Parkinson’s disease. In these medical conditions, the neural networks that are involved have been identified: that is, the opioidergic-cholecystokinergic-dopaminergic modulatory network in pain and part of the basal ganglia circuitry in Parkinson’s disease. Important clinical implications emerge from these recent advances in placebo research. First, as the placebo effect is basically a psychosocial context effect, these data indicate that different social stimuli, such as words and rituals of the therapeutic act, may change the chemistry and circuitry of the patient’s brain. Second, the mechanisms that are activated by placebos are the same as those activated by drugs, which suggests a cognitive/affective interference with drug action. Third, if prefrontal functioning is impaired, placebo responses are reduced or totally lacking, as occurs in dementia of the Alzheimer’s type.

Azzone, GF. The second evolution: after the genes the cultural birth. RENDICONTI LINCEI-SCIENZE FISICHE E NATURALI 21 (4): 283-299 DEC 2010

The development and evolution of the human mind-brain system occur through various mechanisms. The first is that of the prolongations of axons and dendrites. The second is that of the signals received from the environment. Following the gradual increase of the number of synaptic connections, the third is that of the auto-organization and the selection of the neural networks. According to Fodor, the mind-brain system can be divided into two types of faculties, indicated as vertical and horizontal, respectively. The neural networks of the vertical faculties are (1) genetically programmed, (2) largely predictable and (3) non-chaotic. The neural network of the horizontal faculties, on the other hand, is (1) not genetically determined and non-predictable, (2) developed by means of auto-organization processes and (3) obeying to the principles of the determinist chaos. The genes operate largely by means of imprinting mechanisms, which may lead to extensive acquisition of new knowledge and changes in behaviour. The cultural learning begins to emerge after the first year of life. Imitating, manipulating and speaking are three activities, well used by the human beings, which are essential for the development of the human behaviour. The learning of the language begins after the second year of life and proceeds at least up to the age of ten. The effect of imprinting is particularly striking for the learning of language. The capacities to move hands, fingers, tongue, mouth and larynges, are all localized in the Broca area: the genes are then necessary not only for the use of language, but also for the movement of mouth, hands and fingers, all damaged by lesions of the Broca area. Dawkins has emphasized the role of some specific natural entities, indicated as memes, which act as units of cultural-neural communication and are responsible for the transmission and diffusion of their informational content: everything learned by means of copying or imitating, may be then considered as product of the memes. The generation and transmission of information, by DNA and neural networks, have very different properties. The genetic birth, due to DNA, occurs mostly within the first year of life, whereas the cultural birth, due to the activities of the neural networks, lasts during the whole life and reflects the personal history of each individual. I suggest that everything attributed to the memes must be considered to be due to the neural networks, possessing the replicators’ properties of heredity, variation and selection. These networks are, then, the structures responsible for the transmission of information. Religion principles and scientific knowledge stem from two different conceptions of the world structure of nature. Many religions defend a static and determinist interpretation (1) realized once forever and (2) not subject to evolutionary changes. The scientific knowledge defends a dynamic and non-predictable interpretation of the world structure, in that it is opened to continuous modifications and evolutions. The scientific explanation of the natural world is based on (1) the atomistic conception and (2) the second principle of thermodynamics. The atomistic conception is based on the view that (1) all material entities, whether living or non-living, are made of smaller components, denoted as atoms and (2) the knowledge of these components is essential to explain the macroscopic properties. The second principle of thermodynamic explains the effects of the production and the consumption of energy. In most organized, natural, structures-whether genetic o physical or social-the efficiency of the system may be increased with the increase of complexity. Also the human societies may improve their efficiencies by shifting continuously toward increased, more specialized and complex specialization.

Doolin, B; Motion, J. Christian lay understandings of preimplantation genetic diagnosis. PUBLIC UNDERSTANDING OF SCIENCE 19 (6): 669-685 NOV 2010

Focus groups were used to analyse Christian lay public understanding of preimplantation genetic diagnosis (PGD), a relatively new biomedical practice. The paper explores how this often controversial genetic technology was contextualised and interpreted through the intersection of religious values and beliefs, secular and cultural knowledges, and lived experience and emotion. For the lay people in our study, PGD often created moral dilemmas that could not necessarily be resolved through Christian beliefs and teaching, but which required the expression of empathy and compassion. The findings emphasise the heterogeneity in individuals’ interpretations of scientific issues and reinforce the need to consider public understanding of science and technology in terms of public concerns and meaning.

Schuppli, CA; Weary, DM. Attitudes towards the use of genetically modified animals in research. PUBLIC UNDERSTANDING OF SCIENCE 19 (6): 686-697 NOV 2010

Here we provide the first experimental evidence that public concerns about the use of animals in research are accentuated when genetically modified (GM) animals are used. Using an online survey, we probed participant views on two uses of pigs as research animals (to reduce agricultural pollution or to improve organ transplant success in humans) with and without GM. We surveyed 327 animal technicians, researchers, advocates, university students and others. In both scenarios and across demographics, support dropped off when the research required the use of GM pigs or GM corn. For example, 66% of participants supported using pigs to reduce phosphorus pollution, but this declined to 49% when the pigs were fed GM corn and to 20% when the research required the creation of a new GM line of pigs. Those involved in animal research were more consistently supportive compared to those who were not or those who were vegetarians.

Winikoff, R; Lee, C. Hemophilia Carrier Status and Counseling the Symptomatic and Asymptomatic Adolescent. JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY 23 (6): S43-S47 Suppl. 1 2010

Carriers of hemophilia have a 50% chance of Ovine birth to a hemophilic son. Approximately 35% may have a lower than normal factor VIII or IX and therefore can be diagnosed without genetic testing. These individuals may present with menorrhagia, menometrorrhagia and dysmenorrhoea. The treatment of menorrhagia is similar to girls without bleeding disorders – tranexamic acid, the oral contraceptive pill and, where acceptable, the levonorgestrel-releasing intrauterine device. genetic diagnosis is possible for potential carriers – 50% families with severe hemophilia carry the intron 22 inversion and databases are available which list most of the causative mutations for hemophilia A and B. Ideally the mutation in the index in a family is known. The testing of adolescents for a recessively inherited condition raises ethical issues and guidance may vary within different countries and cultures.

Paine, AL; Veach, PM; MacFarlane, IM; Thomas, B; Ahrens, M; LeRoy, BS. “What Would You Do if You Were Me?” Effects of Counselor Self-Disclosure Versus Non-disclosure in a Hypothetical genetic Counseling Session. JOURNAL OF GENETIC COUNSELING 19 (6): 570-584 DEC 2010

Two prior studies suggest genetic counselors self-disclose primarily because patients ask them to do so (Peters et al., 2004; Thomas et al., 2006). However, scant research has investigated effects of counselor disclosure on genetic counseling processes and outcomes. In this study, 151 students (98 undergraduates, 53 graduates) completed one of three surveys describing a hypothetical genetic counseling session in which a patient at risk for FAP was considering whether to pursue testing or surveillance procedures. Dialogue was identical in all surveys, except for a final response to the question: “What would you do if you were me?” The counselor either revealed what she would do (Personal Disclosure), what other patients have done (Professional Disclosure), or deflected the question (No Disclosure). Imagining themselves as the patient, participants wrote a response to the counselor and indicated their perceptions of her. Participants rated the non-disclosing counselor significantly lower in social attractiveness than either disclosing counselor, and less satisfying than the professional disclosing counselor. Analysis of written responses yielded four themes: Made Decision, Sought Information, Expressed Thoughts/Feelings, and No Decision. Practice implications and research recommendations are provided.

Powell, KP; Hasegawa, L; McWalter, K. Expanding Roles: A Survey of Public Health genetic Counselors.JOURNAL OF GENETIC COUNSELING 19 (6): 593-605 DEC 2010

According to the 2008 National society of genetic Counselors (NSGC) Professional Status Survey (PSS), 31 genetic counselor respondents reported spending at least 50% of their time in the area of public health. The NSGC Public Health Special Interest Group (PHSIG) had 49 dues-paying members in 2009. The purpose of this study was to identify the work settings and public health activities in which genetic counselors participate. A novel online survey was disseminated over the NSGC PHSIG Listserv. Forty-one percent (n = 13) of public health genetic counselor respondents worked in a university medical system, while 53% (n = 17) were grant-funded and held a non-clinical appointment. The most common public health activities included educating healthcare professionals (82%) and community members (61%), research (55%), grant writing (55%) and grant administration (36%). Most respondents (82%) reported learning certain public health skills outside of their genetic counseling training programs. Differences in work settings were found, with a significantly greater percentage of public health genetic counselors working in government agencies. genetic counselors have opportunities to become involved in public health activities as the scope of public health genetics grows. Furthermore, genetic counseling competencies are compatible with the Institute of Medicine’s “10 Essential Public Health Services.” The NSGC and genetic counseling training programs are encouraged to offer more public health learning opportunities for genetic counselors and genetic counseling students interested in this specialty area.

Menezes, MA; Hodgson, JM; Sahhar, MA; Aitken, M; Metcalfe, SA. “It’s Challenging on a Personal Level”aEuro”Exploring the ‘Lived Experience’ of Australian and Canadian Prenatal genetic Counselors. JOURNAL OF GENETIC COUNSELING 19 (6): 640-652 DEC 2010

Prenatal genetic counselors work with clients who are at risk of having a child with a fetal anomaly, or who have been diagnosed with a fetal anomaly. This can raise challenging ethical, moral and legal issues for both clients and counselors. Few studies have explored whether this type of work impacts on genetic counselors themselves. Interviews were conducted with 15 prenatal genetic counselors, five from Toronto, Canada and ten from Melbourne, Australia. A qualitative approach was used to allow for an in-depth exploration of the experiences of genetic counselors working in the prenatal setting. While participants reported that working in a prenatal setting affected them in several ways, this paper focuses on one particular unanticipated finding-that of the impact experienced by counselors from both countries while working when pregnant.

Piazza, J; Bering, JM. The Coevolution of Secrecy and Stigmatization. HUMAN NATURE-AN INTERDISCIPLINARY BIOSOCIAL PERSPECTIVE 21 (3): 290-308 OCT 2010

We propose a coevolutionary model of secrecy and stigmatization. According to this model, secrecy functions to conceal potential fitness costs detected in oneself or one’s genetic kin. In three studies, we found that the content of participants’ distressing secrets overlapped significantly with three domains of social information that were important for inclusive fitness and served as cues for discriminating between rewarding and unrewarding interaction partners: health, mating, and social-exchange behavior. These findings support the notion that secrecy functions primarily as a defense against stigmatization by suppressing information about oneself or one’s kin that evolutionarily has been devalued in mating and social exchange.

Borry, P. Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes European society of Human genetics. EUROPEAN JOURNAL OF HUMAN GENETICS 18 (12): 1271-1273 DEC 2010

Many private companies offer direct-to-consumer (DTC) genetic testing services. Some tests may detect severe and highly penetrant monogenic disorders, while other tests are for genetic variants found associated with increased susceptibility for common and complex diseases in large-scale population studies. Through its Public and Professional Policy committee followed by member and expert consultation, the European society of Human genetics has developed the following policy on advertising and provision of predictive genetic tests by such DTC companies: (1) clinical utility of a genetic test shall be an essential criterion for deciding to offer this test to a person or a group of persons; (2) laboratories providing genetic tests should comply with accepted quality standards, including those regarding laboratory personnel qualifications; (3) information about the purpose and appropriateness of testing should be given before the test is done; (4) genetic counselling appropriate to the type of test and disease should be offered; and for some tests psychosocial evaluation and follow-up should be available; (5) privacy and confidentiality of sensitive genetic information should be secured and the data safely guarded; (6) special measures should be taken to avoid inappropriate testing of minors and other legally incapacitated persons; (7) all claims regarding genetic tests should be transparent; advertisement should be unbiased and marketing of genetic tests should be fair; (8) in biomedical research, health care and marketing, respect should be given to relevant ethical principles, as well as international treaties and recommendations regarding genetic testing; and (9) nationally approved guidelines considering all the above-mentioned aspects should be made and followed. European Journal of Human genetics (2010) 18, 1271-1273; doi: 10.1038/ejhg.2010.129; published online 25 August 2010

Hashiloni-Dolev, Y; Hirsh-Yechzkel, G; Boyko, V; Wainstock, T; Schiff, E; Lerner-Geva, L. Attitudes toward sex selection: a survey among potential users in Israel. PRENATAL DIAGNOSIS 30 (11): 1019-1025 NOV 2010

Objective Since 1995, Israel allows social sex selection (SxS) under certain circumstances However data regarding the attitudes of potential users are limited Methods The study population composed of a stratified sample of Israeli married men and women at the reproductive age (women aged 17-45 men aged 17-65) who had 1-2, 3, or 4+ children of the same sex We conducted telephonic interviews with 687 Israeli residents using a structured questionnaire that included the following items demographic characteristics, opinions regarding SxS personal interest in expanding the family, and interest in choosing the sex of a future child Results Among the group of respondents who wanted to have more children (true potential users of the technology) 42 6% wished to select the sex of a future child Strong desire for family balancing was found In a multivariable logistic regression model being an ultra-orthodox was associated with a lower desire to choose (OR = 0 02 95% CI 0 01-0 06) while having more same-sex children was associated with a greater desire to choose (OR = 3 12 95% CI 1 54-6 32) Conclusions It can be estimated that if SxS were to be freely permitted in Israel, less than half of those for whom SxS is truly relevant would want to use the technology Copyright (C) 2010 John Wiley & Sons Ltd

Veenstra, DL; Roth, JA; Garrison, LP; Ramsey, SD; Burke, W. A formal risk-benefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice.GENETICS IN MEDICINE 12 (11): 686-693 NOV 2010

Purpose: Evaluation of genomic tests is often challenging because of the lack of direct evidence of clinical benefit compared with usual care and unclear evidence requirements. To address these issues, this study presents a risk-benefit framework for assessing the health-related utility of genomic tests. Methods: We incorporated approaches from a variety of established fields including decision science, outcomes research, and health technology assessment to develop the framework. Additionally, we considered genomic test stakeholder perspectives and case studies. Results: We developed a three-tiered framework: first, we use decision-analytic modeling techniques to synthesize data, project incidence of clinical events, and assess uncertainty. Second, we defined the health-related utility of genomic tests as improvement in health outcomes as measured by clinical event rates, life expectancy, and quality-adjusted life-years. Finally, we displayed results using a risk-benefit policy matrix to facilitate the interpretation and implementation of findings from these analyses. Conclusion: A formal risk-benefit framework may accelerate the utilization and practice-based evidence development of genomic tests that pose low risk and offer plausible clinical benefit, while discouraging premature use of tests that provide little benefit or pose significant health risks compared with usual care. Genet Med 2010:12(11):686-693.

Bonaccorsi, G; Levi, M; Bassetti, A; Sabatini, C; Comodo, N; Lorini, C. Risk perception about GMOs and food choices among adolescents attending secondary schools: a Tuscan case. ITALIAN JOURNAL OF FOOD SCIENCE 22 (3): 264-273 2010

Young consumers’ (students attending secondary schools) risk perception of biotechnologies, in general, and of GMOs, in particular, were investigated in Valdinievole (Italy), using a questionnaire adapted from Eurobarometer 64.3. The relationship between the social status and cultural capital of the students’ families and their food choices were explored. A total of 502 questionnaires were completed. The adolescents’ knowledge seemed rather confused and the answers were related more to the type of school attended rather than the cultural capital and/or social class of the family. In order to make informed decisions, educational training is needed. The schools should serve as a channel through which students gain information.

Gannett, L. Questions asked and unasked: how by worrying less about the ‘really real’ philosophers of science might better contribute to debates about genetics and race. SYNTHESE 177 (3): 363-385 DEC 2010

Increased attention paid to inter-group genetic variability following completion of the Human Genome Project has provoked debate about race as a category of classification in biomedicine and as a biological phenomenon at the level of the genome. Philosophers of science favor a metaphysical approach relying on natural kind theorizing, the underlying assumptions of which structure the questions asked. Limitations arise the more metaphysically invested and less attuned to scientific practice these questions are. Other questions-arguably, those that matter most socially and politically-remain unasked, not merely overlooked but systematically ignored and even foreclosed. Race fails as a postulated natural kind because it fails to meet expectations that as a category of classification it furnish an authoritative taxonomy that by depicting fundamental divisions in nature is conducive to fulfilling far-ranging explanatory aims. Racial, ethnic, and other group designations may nonetheless be projectible insofar as they support inductive inferences in biomedicine, but this does not render them any less social. Indeed, the statistical, contingent, accidental, localized, and interest-relative bases of such inferences serve to undercut the dichotomizing of race as either biological reality or social construct and favor the adoption of a pragmatic approach.

Andermann, A; Blancquaert, I; Beauchamp, S; Costea, I. Guiding Policy Decisions for genetic Screening: Developing a Systematic and Transparent Approach. PUBLIC HEALTH GENOMICS 14 (1): 9-16 2011

With the ever-widening gap between what is technologically possible and services available, jurisdictions around the world are faced with complex decisions regarding the introduction and expansion of genetic screening programs. A series of literature reviews and consultations with stakeholders and experts led to the development of a decision support guide for genetic screening policy-making. This involved establishing a preliminary list of core criteria synthesized from the growing literature on genetic screening, which was then transformed through a series of consultations into a more elaborate decision guide. Although certain perennial challenges in genetic screening policy-making remain, the decision support guide aims to promote a fair and evidence-informed process that makes explicit the ethical dilemmas often inherent to such policy decisions.

Heeney, C; Hawkins, N; de Vries, J; Boddington, P; Kaye, J. Assessing the Privacy Risks of Data Sharing in Genomics. PUBLIC HEALTH GENOMICS 14 (1): 17-25 2011

The protection of identity of participants in medical research has traditionally been guaranteed by the maintenance of the confidentiality of health information through mechanisms such as only releasing data in an aggregated form or after identifying variables have been removed. This protection of privacy is regarded as a fundamental principle of research ethics , through which the support of research participants and the public is maintained. Whilst this traditional model was adopted for genetics and genomics research, and was generally considered broadly fit for purpose, we argue that this approach is increasingly untenable in genomics. Privacy risk assessments need to have regard to the whole data environment, not merely the quality of the dataset to be released in isolation. As sources of data proliferate, issues of privacy protection are increasingly problematic in relation to the release of genomic data. However, we conclude that, by paying careful attention to potential pitfalls, scientific funders and researchers can take an important part in attempts to safeguard the public and ensure the continuation of potentially important scientific research. Copyright (C) 2010 S. Karger AG, Basel

Hall, AE; Burton, H. Legal and ethical implications of inherited cardiac disease in clinical practice within the UK. JOURNAL OF MEDICAL ETHICS 36 (12): 762-766 DEC 2010

Increasing genetic knowledge over the last decade has enabled hundreds of genetic variants associated with inherited cardiac conditions to be identified, many of which cause increased risk of sudden cardiac death. While individually these conditions are rare, taken together they impose a significant burden. The severity of these conditions-the possibility that they might cause sudden unheralded death of a teenager or young adult-juxtaposed with uncertainty about the pathology linked with many of the genetic variants is significant in terms of professional practice because, increasingly, clinicians have been encouraged to cascade out genetic testing from the proband or consultand to other family members who may be at risk of developing the same condition. This process often involves sharing human tissue samples, DNA or personal information. This paper reviews the legal and regulatory frameworks which may apply when tissue and DNA samples are collected, used and retained, both for the purpose of diagnosis and for benefiting other family members, when a suspected or definitive diagnosis of an inherited cardiovascular condition is made. Sometimes the interests of family members may conflict, and it may be difficult for practitioners to reconcile the interests of one family member with another, particularly if the balance of benefits and harms from testing is unclear. The paper then examines some of the ethical tensions which may arise in practice and concludes that all involved should be conversant with the legal and ethical frameworks that apply.

Tozzo, P; Pegoraro, R; Caenazzo, L. Biobanks for non-clinical purposes and the new law on forensic biobanks: does the Italian context protect the rights of minors? JOURNAL OF MEDICAL ETHICS 36 (12): 775-778 DEC 2010

Biobanks are an important resource for medical research. genetic research on biological material from minors can yield valuable information that can improve our understanding of genetic-environmental interactions and the genesis and development of early onset genetic disorders. The major ethical concerns relating to biobanks concern consent, privacy, confidentiality, commercialisation, and the right to know or not to know. However, research on paediatric data raises specific governance and ethical questions with regard to consent and privacy. We have considered the Italian normative context focusing on what is mentioned in each document on the ethical and legal requirements that guarantee the rights of minors. We found out that there is no systematic reflection on the ethical and policy issues arising from the participation of minors in biobank research. Moreover, we have focused on the same aspects for the new Italian Law on the National Forensic Biobank.

Burke, W; Burton, H; Hall, AE; Karmali, M; Khoury, MJ; Knoppers, B; Meslin, EM; Stanley, F; Wright, CF; Zimmern, RL. Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and “personalized” medicine? GENETICS IN MEDICINE 12 (12): 785-791 DEC 2010

The decade following the completion of the Human Genome Project has been marked by divergent claims about the utility of genomics for improving population health. On the one hand, genomics is viewed as the harbinger of a brave new world in which novel treatments rectify known causes of disease. On the other hand, genomics may have little practical relevance to the principal causes or remedies of diseases which are predominantly social or environmental in origin, particularly in low-and middle-income countries. Those supportive of a role for public health genomics argue that increasing knowledge of genomics and molecular pathology could unlock effective diagnostic techniques and treatments, and better target public health interventions. To resolve some of these tensions, an international multidisciplinary meeting was held in May 2010 in Ickworth, United Kingdom, with the aim of setting an agenda for the development of public health in an era of genome-based and “personalized” medicine. A number of key themes emerged, suggesting a need to reconfigure both the focus for existing genomic research and the stage at which funding is targeted, so that priority is given to areas of greatest potential health impact and that translation from basic science to implementation is given greater emphasis. To support these developments, there should be an immediate, sustained and systematic effort to provide an evidence base. These deliberations formed the basis for six key recommendations, which could guide the practice of public health in an era of genomics and personalized medicine.

Hadley, DW; Ashida, S; Jenkins, JF; Martin, JC; Calzone, KA; Kuhn, NR; McBride, CM; Kirsch, IR; Koehly, LM. Generation after generation: Exploring the psychological impact of providing genetic services through a cascading approach. GENETICS IN MEDICINE 12 (12): 808-815 DEC 2010

Purpose: The provision of genetic services often occurs in a cascading fashion within families experiencing inherited diseases. This study examines whether previous family experiences with genetic services influences levels of psychological well-being of family members receiving services later. Methods: Two hundred ninety-seven persons from 38 families with Lynch syndrome completed questionnaires before receiving genetic services. Baseline levels of test-related distress, depressive symptoms, and cancer worries were assessed in relationship to the (1) amount of time elapsed since services were provided to the index case and (2) generation of the family member relative to the index case. Results: Family members in the same generation as the index case experienced significant increases in test-related distress (P = 0.003) and cancer worry (P = 0.001) with increasing time between receipt of genetic test results by the index case and provision of services to family members. Change in the number of depressive symptoms was not significant (P = 0.17). Conclusion: The provision of genetic services through a cascading approach significantly increases distress and worry among family members within the same generation as the index case who receive services at increasingly distant time intervals. Additional research is needed to explore social influences after the introduction of genetic services. Genet Med 2010:12(12):808-815.

Lewis, C; Skirton, H; Jones, R. Living Without a Diagnosis: The Parental Experience. GENETIC TESTING AND MOLECULAR BIOMARKERS 14 (6): 807-815 DEC 2010

Aim: The aim of this study was to explore the parental experiences of raising a child without a diagnosis. Method: Qualitative semistructured interviews were conducted with 14 parents recruited through a large Regional genetics Centre in the United Kingdom. The interview guide was designed to examine issues such as when and why parents started searching for a diagnosis, whether they were still searching, and what psychosocial issues had arisen as a result of not having a diagnosis. Data were analyzed using the Grounded Theory method. Results: The parental experience can be viewed as a journey, which comprises of two distinct components: the inner, emotional experience, and the outer, sociological experience. Issues that comprise the emotional journey include the realization that there is a problem, the experience of testing, reasons for wanting a diagnosis, the emotional impact, and active coping mechanisms. social issues include the experience with professionals, the various support networks accessed by parents, and issues such as education and housing. The issue of frustration was one that occurred throughout the journey. Conclusion: Although some of the experiences cited by parents are common to families raising a child with a diagnosed condition, lack of diagnosis adds a layer of complexity.

Heaney, C; Tindall, G; Lucas, J; Haga, SB. Researcher Practices on Returning genetic Research Results. GENETIC TESTING AND MOLECULAR BIOMARKERS 14 (6): 821-827 DEC 2010

Background/Aims: As genetic and genomic research proliferates, debate has ensued about returning results to participants. In addition to consideration of the benefits and harms to participants, researchers must also consider the logistical and financial feasibility of returning research results. However, little data exist of actual researcher practices. Methods: We conducted an online survey of 446 corresponding authors of genetic/ genomic studies conducted in the United States and published in 2006-2007 to assess the frequency with which they considered, offered to, or actually returned research results, what factors influenced these decisions, and the method of communicating results. Results: The response rate was 24% (105/446). Fifty-four percent of respondents considered the issue of returning research results to participants, 28% offered to return individual research results, and 24% actually returned individual research results. Of those who considered the issue of returning research results during the study planning phase, the most common factors considered were whether research results were deemed clinically useful (18%) and respect for participants (13%). Researchers who had a medical degree and conducted studies on children were significantly more likely to offer to return or actually return individual results compared to those with a Ph.D. only. Conclusions: We speculate that issues associated with clinical validity and respect for participants dominated concerns of time and expense given the prominent and continuing ethical debates surrounding genetics and genomics research. The substantial number of researchers who did not consider returning research results suggests that researchers and institutional review boards need to devote more attention to a topic about which research participants are interested.

Fabsitz, RR; McGuire, A; Sharp, RR; Puggal, M; Beskow, LM; Biesecker, LG; Bookman, E; Burke, W; Burchard, EG; Church, G; Clayton, EW; Eckfeldt, JH; Fernandez, CV; Fisher, R; Fullerton, SM; Gabriel, S; Gachupin, F; James, C; Jarvik, GP; Kittles, R; Leib, JR; O’Donnell, C; O’Rourke, PP; Rodriguez, LL; Schully, SD; Shuldiner, AR; Sze, RKF; Thakuria, JV; Wolf, SM; Burke, GL. Ethical and Practical Guidelines for Reporting genetic Research Results to Study Participants Updated Guidelines From a National Heart, Lung, and Blood Institute Working Group. CIRCULATION-CARDIOVASCULAR GENETICS 3 (6): 574-580 DEC 2010

In January 2009, the National Heart, Lung, and Blood Institute convened a 28-member multidisciplinary Working Group to update the recommendations of a 2004 National Heart, Lung, and Blood Institute Working Group focused on Guidelines to the Return of genetic Research Results. Changes in the genetic and societal landscape over the intervening 5 years raise multiple questions and challenges. The group noted the complex issues arising from the fact that technological and bioinformatic progress has made it possible to obtain considerable information on individuals that would not have been possible a decade ago. Although unable to reach consensus on a number of issues, the working group produced 5 recommendations. The working group offers 2 recommendations addressing the criteria necessary to determine when genetic results should and may be returned to study participants, respectively. In addition, it suggests that a time limit be established to limit the duration of obligation of investigators to return genetic research results. The group recommends the creation of a central body, or bodies, to provide guidance on when genetic research results are associated with sufficient risk and have established clinical utility to justify their return to study participants. The final recommendation urges investigators to engage the broader community when dealing with identifiable communities to advise them on the return of aggregate and individual research results. Creation of an entity charged to provide guidance to institutional review boards, investigators, research institutions, and research sponsors would provide rigorous review of available data, promote standardization of study policies regarding return of genetic research results, and enable investigators and study participants to clarify and share expectations for the handling of this increasingly valuable information with appropriate respect for the rights and needs of participants. (Circ Cardiovasc Genet. 2010;3:574-580.)

Sharp, RR; Landy, DC. The Financing of Clinical genetics Research by Disease Advocacy Organizations: A Review of Funding Disclosures in Biomedical Journals. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 152A (12): 3051-3056 DEC 2010

Anecdotal reports suggest that disease-advocacy groups (DAOs) participate in multiple aspects of clinical research. No systemic analysis of the extent of DAO involvement in clinical genetics research has been conducted to date. We conducted a systematic review of journal articles published in 2004 and 2005 reporting clinical research on 50 genetic diseases to assess the extent to which DAOs financed the studies reported, assisted in subject recruitment, or participated in other aspects of research. Of 513 articles, 350 (68%) included a statement regarding research support. Of these articles, 114 (33%) acknowledged DAO funding. The proportion of articles reporting financial support from a DAO varied greatly by disease. Articles reporting financial support from a DAO often identified at least one additional source of support (73%). Of the articles examined, 19 (4%) acknowledged DAO assistance with subject recruitment and 11 (2%) included an author affiliated with a DAO. DAOs provide financial support for numerous clinical research studies in genetics, often in partnership with government agencies and for-profit corporations. DAOs also participate in other aspects of clinical research, including subject recruitment. Future studies should seek to characterize these research partnerships more fully. (C) 2010 Wiley-Liss, Inc.

Arar, N; Seo, J; Lee, S; Abboud, HE; Copeland, LA; Noel, P; Parchman, M. Preferences regarding genetic Research Results: Comparing Veterans and Nonveterans Responses. PUBLIC HEALTH GENOMICS 13 (7-8): 431-439 2010

Objective: Communicating genetic research results to participants presents ethical challenges. Our objectives were to examine participants’ preferences in receiving future genetic research results and to compare preferences reported by veteran and nonveterans participants. Methods: Secondary analysis was performed on data collected in 2000-2004 from 1,575 consent forms signed by Mexican-American participants enrolled in 2 genetic family studies (GFS) in San Antonio: The Family Investigation of Nephropathy and Diabetes (FIND) and the Extended FIND (EFIND). The consent forms for these studies contained multiple-choice questions to examine participants’ preferences about receiving their (1) clinical lab results and (2) future genetic research results. The FIND and EFIND databases had information on subjects’ demographic characteristics and some selected clinical variables. We identified veterans using the Veterans Health Administration’s (VHA’s) centralized data repository. We compared veterans’ and nonveterans’ preferences using Student’s t test for continuous variables and chi(2) test for discrete variables. A logistic regression analyzed subjects’ preference for receiving their research results, controlling for other socio-demographic and clinical variables. Results: The sample included 275 (18%) veterans and 1,247 (82%) nonveterans. Our results indicated a strong desire among the majority of participants 1,445 (95%) in getting their clinical lab research results. Likewise, 93% expressed interest in being informed about their future genetic results. There was no significant difference in veterans’ and nonveterans’ preference to disclosure of the research results (chi(2) test; p > 0.05). Regression analysis showed no significant relationship (p = 0.449) between the outcome (receiving research results) and veterans’ responses after controlling for demographics and educational levels. Conclusion: Participants believed they would prefer receiving their genetic research results. Veterans are similar to nonveterans in their preferences. Offering genetic research results to participants should be based on well defined and structured plans to enhance interpretation of genetic data.

Boddington, P. Relative Responsibilities: Is There an Obligation to Discuss Genomics Research Participation with Family Members? PUBLIC HEALTH GENOMICS 13 (7-8): 504-513 2010

One of the many ethical challenges presented by research in genomics is that, although informed consent to research has traditionally been a matter for the individual participant, genomics research carries potential implications for genetic relatives. There are specific issues that arise when research is focused around populations or around family groups; this paper deals with the place of relatives of participants in genomics research more generally. Recently, in response to this challenge, recommendations have attempted to tread a middle ground by retaining traditional models of informed consent whilst suggesting that potential research recruits should be encouraged to discuss participation with their families. It is argued here that this may produce an unfair account of the responsibilities of research participants, that it may ignore the very many difficulties of communication within families about genetics and health, and that it may create unrealistic hurdles to the ethical conduct of research. Research conducted in the context of clinical genetics and on health communication more widely is drawn upon to illustrate these points. A clear recommendation is made that providing materials that may assist research participants to communicate with family members may be beneficial and may raise ethical standards, but that it may be unwise to burden participants with the suggestion that they owe specific obligations to genetic relatives to discuss research participation with them. Copyright (C) 2010 S. Karger AG, asel

Javaher, P; Nyoungui, E; Kaariainen, H; Kristoffersson, U; Nippert, I; Sequeiros, J; Schmidtke, J. Genetic Screening in Europe. PUBLIC HEALTH GENOMICS 13 (7-8): 524-537 2010

genetic screening has been defined as any kind of test performed systematically for the early detection or exclusion of a genetic disease, genetic predisposition or resistance to a disease, or to determine whether a person carries a gene variant that may produce disease in his or her offspring. In comparison to ‘genetic testing’, the term ‘genetic screening’ should be reserved for the explicit and systematic application of a diagnostic genetic test across a whole population of asymptomatic people (population screening) or a subset of a population such as pregnant women (prenatal/antenatal screening) or newborn infants (neonatal screening). This survey intends to present the current (2006-2008) status of genetic screening and the organization of genetic screening programmes in selected European countries as a background for future attempts to harmonize standards and procedures of genetic screening, an explicit aim of the European Network of Excellence, EuroGentest (www.eurogentest.org). Our report builds on the first comprehensive assessment of genetic screening programmes in Germany by the European society of Human genetics, starting with a workshop of experts in 1999, the production of background documentation in 2000, and a final report in 2003. Copyright (C) 2010 S. Karger AG, Basel

Kinchy, AJ. Anti-genetic engineering activism and scientized politics in the case of “contaminated” Mexican maize. AGRICULTURE AND HUMAN VALUES 27 (4): 505-517 DEC 2010

The struggle over genetically-engineered (GE) maize in Mexico reveals a deep conflict over the criteria used in the governance of agri-food systems. Policy debate on the topic of GE maize has become “scientized,” granting experts a high level of political authority, and narrowing the regulatory domain to matters that can be adjudicated on the basis of scientific information or “managed” by environmental experts. While scientization would seem to narrow opportunities for public participation, this study finds that Mexican activists acting “in defense of maize” engage science in multiple ways, using and producing scientific knowledge as well as treating scientific discussions as a stage for launching complex social critiques. Drawing from research in science and technology studies, this article assesses the impacts and pitfalls of three tactics used by maize activists that respond to the scientization of biotechnology politics: (1) using scientific information as a resource; (2) participating in scientific research; and (3) reframing policy problems as broadly social, rather than as solely scientific or technical. The obstacles that maize activists have faced in carrying out each of these efforts indicate that despite diverse and sophisticated engagements between social movements and the scientific field, scientization remains a significant institutional barrier to democratizing agricultural governance.

 


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One Comment leave one →
  1. Ingrid permalink
    15 January 2011 12:39

    Hi,
    Great to see these –saves me the hunting! I’ve just noticed on a few of the abstracts that they don’t really go into their results or conclusions –it almost seems as if they are now using the abstracts as a advertisement of the paper rather than a traditional abstract. The paper that caught my eye is “Winikoff, R; Lee, C. Hemophilia Carrier Status and Counselling the Symptomatic and Asymptomatic Adolescent.” The article doesn’t seem to mention the revised BSHG guidelines which might be of interest to some here…http://www.clingensoc.org/Docs/GTOC%20BSHG%202010.pdf

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