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Article round-up: August 2010

3 September 2010

Ok, so summer is here and the last thing you’re thinking about is bioethics (unless you are fervently scribbling and trying to get your thesis/dissertation submitted), but September will soon be here. So why not hit the ground running with this months article round-up (comments and suggestions welcome as always).

Stuart

Yang, LH; Wonpat-Borja, AJ; Opler, MG; Corcoran, CM. Potential stigma associated with inclusion of the psychosis risk syndrome in the DSM-V: An empirical question. SCHIZOPHRENIA RESEARCH 120 (1-3): 42-48 JUL 2010

While the “clinical high-risk state” for psychosis has demonstrated good reliability and fair predictive validity for psychotic disorders, over 50% of identified subjects do not progress to psychosis. Despite the benefits that early detection and treatment might offer, debate concerning the official inclusion of a “psychosis risk syndrome” in the upcoming DSM-V frequently involves concerns about the impact of stigma on patients, families and institutions. We add to this debate by providing an analysis of the theoretical and empirical stigma literature to evaluate the potential effects of stigma associated with the psychosis risk syndrome. Theorists’ conceptualizations of how stigma exerts its negative effects emphasize internalization of pejorative societal stereotypes (‘self-stigma’), negative emotional reactions, harmful behavioral coping strategies, and structural discrimination as key mechanisms. Studies assessing the comparative effects of symptomatic behavior when compared with a psychiatric diagnosis label in predicting rejecting social attitudes indicate that treating symptomatic behaviors is likely to diminish overall stigma. However, any publically held ‘preexisting conceptions’ about what a psychosis risk syndrome means are still likely to exert negative effects. Additionally, particular features of this syndrome that it occurs during adolescence when identity formation may be in flux may also shape manifestations of stigma. Utilizing other well-established ‘at-risk’ conditions (e.g., genetic susceptibility) to model potential discrimination for this syndrome, we suggest that future discrimination is likely to occur in insurance and family domains. We conclude by proposing stigma measurement strategies, including recommending that field trials prior to DSM-V adopt systematic measures to assess any stigma that this psychosis risk syndrome might confer via future community use.

Lindahl, MG. Of Pigs and Men: Understanding Students’ Reasoning About the Use of Pigs as Donors for Xenotransplantation. SCIENCE & EDUCATION 19 (9): 867-894 SEP 2010

Two important roles of education are to provide students with knowledge for their democratic participation in society and to provide knowledge for a future profession. In science education, students encounter values that may be in conflict with their worldview. Such conflicts may, for example, lead to constructive reflections as well as rejection of scientific knowledge and technology. Students’ ways of reasoning are important starting points for discussing problematic issues and may be crucial for constructive dialogues in the classroom. This study investigates students’ reasoning about conflicting values concerning the human-animal relationship exemplified by the use of genetically modified pigs as organ donors for xenotransplantation. Students’ reasoning is analyzed using Giddens’ concepts of disembedded and embedded practices in parallel with moral philosophical theories in a framework based on human-animal relationships. Thirteen students were interviewed and their stances categorized. Kantian deontological and classical utilitarian ethics were found within the patronage and the partnership models. These students appreciated expert knowledge but those using the partnership model could not accept xenotransplantation if pigs were to be killed. Students using care ethics did not appreciate expert knowledge since it threatened naturalness. The results suggest that stances against the use of scientific knowledge are more problematic than knowledge per se, and that conflicting stances have similarities that present opportunities for understanding and development of students’ argumentation skills for future participation in societal discourse on utilizing expert knowledge. Furthermore it is argued that science education could benefit from a higher awareness of the presence of different morals.

Cole, SW. Elevating the perspective on human stress genomics. PSYCHONEUROENDOCRINOLOGY 35 (7): 955-962 AUG 2010

Functional genomics strategies have been slow to penetrate research on human stress and coping, but recent conceptual advances have yielded a raft of new findings relating social and psychological conditions to broad alterations in human gene expression. This article reviews the field of human stress genomics, analyzes some of the conceptual and technical issues that initially hampered its progress, and outlines an abstractionist approach to genomic data analysis that has revealed a surprisingly consistent pattern of human transcriptional responses to diverse types of socio-environmental adversity. This field is now poised for another round of significant advances as research begins to incorporate the effects of DNA polymorphism, target a broader array of healthy and diseased tissues, and identify general teleologic and regulatory themes by pooling results over a growing body of studies analyzing the human transcriptional response to stress.

Bowen, DJ; Powers, D. Effects of a Mail and Telephone Intervention on Breast Health Behaviors. HEALTH EDUCATION & BEHAVIOR 37 (4): 479-489 AUG 2010

This study evaluated a mail and telephone intervention to improve breast health behaviors while maintaining quality of life. Women recruited from the general public were randomized to a stepped-intensity intervention consisting of mailings, telephone calls, and counseling (if requested or appropriate given a woman’s genetic risk for breast cancer) or to a delayed treatment control group. Outcomes (mammography screening and quality of life) were measured at baseline in a telephone survey and again at a 12-month follow-up period. Women in the intervention group significantly increased screening mammography uptake by 12% and quality of life by 5.3 scale points compared to control participants. Changes in knowledge of breast cancer, genetic testing, and cancer worry all significantly predicted intervention changes. This successful intervention can help women make better breast health choices without causing increased worry.

Wallach, W. Robot minds and human ethics : the need for a comprehensive model of moral decision making. ETHICS AND INFORMATION TECHNOLOGY 12 (3): 243-250 Sp. Iss. SI SEP 2010

Building artificial moral agents (AMAs) underscores the fragmentary character of presently available models of human ethical behavior. It is a distinctly different enterprise from either the attempt by moral philosophers to illuminate the “ought” of ethics or the research by cognitive scientists directed at revealing the mechanisms that influence moral psychology, and yet it draws on both. Philosophers and cognitive scientists have tended to stress the importance of particular cognitive mechanisms, e.g., reasoning, moral sentiments, heuristics, intuitions, or a moral grammar, in the making of moral decisions. However, assembling a system from the bottom-up which is capable of accommodating moral considerations draws attention to the importance of a much wider array of mechanisms in honing moral intelligence. Moral machines need not emulate human cognitive faculties in order to function satisfactorily in responding to morally significant situations. But working through methods for building AMAs will have a profound effect in deepening an appreciation for the many mechanisms that contribute to a moral acumen, and the manner in which these mechanisms work together. Building AMAs highlights the need for a comprehensive model of how humans arrive at satisfactory moral judgments.

Yeh, MT; Coccaro, EF; Jacobson, KC. Multivariate Behavior Genetic Analyses of Aggressive Behavior Subtypes. BEHAVIOR GENETICS 40 (5): 603-617 SEP 2010

This study examined the genetic and environmental architecture underlying aggressive behavior measured by the Life History of Aggression Questionnaire (LHA; Coccaro et al. 1997a). Following preliminary phenotypic factor analysis procedures, multivariate behavioral genetics models were fit to responses from 2,925 adult twins from the PennTwins cohort on five LHA items assessing lifetime frequency of temper tantrums, indirect aggression, verbal aggression, fighting, and physical assault. The best-fitting model was a 2-factor common pathway model, indicating that these five aggressive behaviors are underpinned by two distinct etiological factors with different genetic and nonshared environmental influences. Although there was evidence of significant sex differences, the structure of the two factors appeared to be quite similar in males and females, where General Aggression and Physical Aggression factors emerged. Heritability of these factors ranged from .37 to .57, and nonshared environmental effects ranged from .43 to .63. The results of this study highlight the heterogeneous nature of the aggression construct and the need to consider differences in genetic and environmental influences on individual aggressive behaviors in a multivariate context.

Packman, W; Crosbie, TW; Behnken, M; Eudy, K; Packman, S. Living With Gaucher Disease: Emotional Health, Psychosocial Needs and Concerns of Individuals With Gaucher Disease. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 152A (8): 2002-2010 AUG 2010

Gaucher disease (GD) is the most common hereditary lysosomal storage disorder. Of the three variants of GD, type 1 accounts for 90% of cases. Patients with GD suffer from multiple medical symptoms and conditions. Clinical features of type 1 GD include hepatosplenomegaly; hematologic complications such as anemia and thrombocytopenia; and skeletal disease leading to avascular necrosis, osteopenia, and osteosclerosis. GD has unique features as a chronic illness: the disorder often presents with mild symptoms, and is frequently diagnosed in later childhood or adulthood. The treatment, enzyme replacement therapy (ERT), is efficacious. However, that same effective treatment is intrusive, expensive, and requires that patients restructure their work and personal schedules. Since the age of presentation can be anywhere between infancy and the eighth decade, the diagnostic process can be prolonged and stressful. The success of ERT notwithstanding, GD patients show distinct psychological complications [Packman et al. (2006); I Inherit Metab Dis 29:99-105]. In the present study, we describe the concerns, needs, challenges and positive effects of GD from the patients’ perspective using in depth interviews of 28 individual affected by GD. Five core themes emerge: (1) difficulty coping with the diagnosis; (2) impact of pain on work, career, and recreational activities; (3) insurance concerns; (4) psychological distress (e.g., mood changes and anxiety); and (5) positive effects-strengthened family and social relationships and positive outlook. Our results highlight and expand awareness of the psychological and social needs of GD patients. This study calls for a collaborative, multidisciplinary effort in treating these patients and their families.

Stromsvik, N; Raheim, M; Oyen, N; Engebretsen, LF; Gjengedal, E. Stigmatization and Male Identity: Norwegian Males’ Experience after Identification as BRCA1/2 Mutation Carriers. JOURNAL OF GENETIC COUNSELING 19 (4): 360-370 AUG 2010

In families with hereditary breast and ovarian cancer, there is limited knowledge about the reactions of BRCA1/2 mutation positive males. In the present qualitative study, fifteen BRCA1/2 mutation positive men in Norway participated in two successive, in-depth interviews. Seven female partners participated in the second interview. The men reported strong emotional reactions to their positive test results, and they expressed a desire to keep the genetic information private. They considered discussing their test results or health related information with other males as difficult, and they perceived females as their sources of social and emotional support. Interestingly, the second interview revealed important information not communicated during the first interview. The findings of this study contribute to the discussion of whether men who test positive for a BRCA1/2 mutation should receive tailored genetic counseling sessions. Health care providers should be aware of psychological vulnerability in these men, likely stemming from fewer emotional supports in their social networks.

Mackoff, RL; Iverson, EF; Kiekel, P; Dorey, F; Upperman, JS; Metzenberg, AB. Attitudes of Genetic Counselors Towards Genetic Susceptibility Testing in Children. JOURNAL OF GENETIC COUNSELING 19 (4): 402-416 AUG 2010

Genetic susceptibility research and testing is leading to an era of personalized medicine. Genetic counselors act as liaisons between the medical genetics community and the public. Understanding the opinions of genetic counselors will be important in developing testing guidelines. Attitudes towards genetic susceptibility testing in children were assessed for 216 NSGC members. Genetic counselors were likely to support testing if the results would determine: disease progression or prognosis, likelihood of survival after a specific treatment, or risk for an adverse drug reaction. Genetic counselors were unlikely to support testing to determine susceptibility to later disease development or in the absence of available intervention. There was a strong positive correlation between attitudes associated with desire to test their own child, if at risk and their support for genetic testing in any child at risk. Respondents strongly favored parent/guardian and child’s rights over doctor or insurance rights. They indicated assent should be obtained prior to testing, when appropriate, and that a copy of results should be kept in a permanent medical record. Respondents expressed concerns about insurance discrimination, testing in the absence of medical necessity, and taking away a child’s autonomy.

Decorte, R. Genetic identification in the 21st century-Current status and future developments. FORENSIC SCIENCE INTERNATIONAL 201 (1-3): 160-164 SEP 10 2010

In 2010, it is the 25th anniversary of the first paper describing the genetic identification of human individuals by DNA fingerprint analysis. Since then DNA analysis has become a major tool to relate biological evidence to the persons involved in a crime or to determine the biological relationship among individuals. The currently used methodology is the result of major technological changes that were partly driven by criticism on previous methodologies, and partly driven by demand especially due to mass disasters such as the ‘9/11 attack’ on the World Trade Center in New York. This review will give an overview of the current methodology in genetic identification and new developments that will have a future impact on forensic identification.

Tauser, RG; Ioan, BG; Zugun-Eloae, F. BIOETHICAL DIMENSION OF THE PHARMACOGENETIC RESEARCH. REVISTA ROMANA DE BIOETICA 8 (2): 146-152 APR-JUN 2010

Pharmacogenetics aims to elucidate the interindividual variability in clinical response to a particular therapeutic regime based on patient ‘s genetic profile, thus improving clinical-decision making process and facilitating the personalized medicine. Pharmacogenetics opens the era of more effective and safer drugs administered as individualized therapies, but, at the same time, it also raises new ethical challenges regarding confidentiality and privacy, the informed consent, the availability of drugs to the patients identified as non-responders, the anti-discriminatory legislation, as well as laws for intellectual properties and exploitation of pharmacogenetics data.

Kannai, R. ‘Maybe it would be better if you spoke to my mother?’- Genetic counseling and personal experience. PATIENT EDUCATION AND COUNSELING 80 (2): 260-261 AUG 2010

This is the narratives of a family physician and a teacher of Medical Ethics , who herself suffers from Gaucher’s disease. She was asked by a colleague to give an advice to a couple trying to decide whether to terminate a pregnancy of a fetus “like her”. The ethical , emotional and communicational challenges of the conversation are described in this essay.

Miller, FA; Hayeems, RZ; Bytautas, JP. What is a meaningful result? Disclosing the results of genomic research in autism to research participants. EUROPEAN JOURNAL OF HUMAN GENETICS 18 (8): 867-871 AUG 2010

Developments in genomics research have been accompanied by a controversial ethical injunction: that researchers disclose individually relevant research results to research participants. With the explosion of genomic research on complex psychiatric conditions such as autism, researchers must increasingly contend with whether – and which results – to report. We conducted a qualitative study with researchers and participants involved in autism genomics research, including 4 focus groups and 23 interviews with parents of autistic children, and 23 interviews with researchers. Respondents considered genomic research results ‘reportable’ when results were perceived to explain cause, and answer the question ‘why;’ that is, respondents set a standard for reporting individually relevant genetic research results to individual participants that is specific to autism, reflecting the metaphysical value that genetic information is seen to offer in this context. In addition to this standard of meaning, respondents required that results be deemed ‘true.’ Here, respondents referenced standards of validity that were context nonspecific. Yet in practice, what qualified as ‘true’ depended on evidentiary standards within specific research disciplines as well as fundamental, and contested, theories about how autism is ‘ genetic .’ For research ethics , these finding suggest that uniform and context-free obligations regarding result disclosure cannot readily be specified. For researchers, they suggest that result disclosure to individuals should be justified not only by perceived meaning but also by clarity regarding appropriate evidentiary standards, and attention to the status of epistemological debates regarding the nature and cause of disorders.

Felt, U; Fochler, M; Winkler, P. Coming to Terms with Biomedical Technologies in Different Technopolitical Cultures: A Comparative Analysis of Focus Groups on Organ Transplantation and Genetic Testing in Austria, France, and the Netherlands. SCIENCE TECHNOLOGY & HUMAN VALUES 35 (4): 525-553 JUL 2010

In this comparative analysis of twelve focus groups conducted in Austria, France, and the Netherlands, we investigate how lay people come to terms with two biomedical technologies. Using the term “technopolitical culture,” we aim to show that the ways in which technosciences are interwoven with a specific society frame how citizens build their individual and collective positions toward them. We investigate how the focus group participants conceptualized organ transplantation (OT) and genetic testing (GT), their perceptions of individual agency in relation to the two technologies and to more collective forms of acting and governing, and also their understanding of the two technologies’ relationship to broader societal value systems. Against the background of the sustained political effort to build common European values, we suggest that more fine-grained attention toward the culturally embedded differences in coming to terms with biomedical technologies is needed.

Knight, T; Barnett, J. Perceived efficacy and attitudes towards genetic science and science governance. PUBLIC UNDERSTANDING OF SCIENCE 19 (4): 386-402 JUL 2010

Arguments for public involvement in science and technology are often based on ideas of developing a more capable public and the assumed effects this may have for science. However, such a relationship is yet to be sufficiently explored and recent work indicates that a more involved public may have counterintuitive effects. Using nationally representative survey data for the UK and Northern Ireland, the effects of the public’s own beliefs about involvement are explored. Developing the concept of “belief in public efficacy,” findings suggest those who believe that the public might be able to affect the course of decision making have less approving attitudes towards future applications of genetic science; however, an individual’s political efficacy does not significantly influence these attitudes. Furthermore, political efficacy and belief in public efficacy have some distinct and opposing relationships with the principles of governance people prefer. Overall, findings provide support for suggestions that it is simplistic to consider increasing public involvement as a way of increasing the approval of risky new technologies.

Prainsack, B; Hashiloni-Dolev, Y; Kasher, A; Prainsack, J. Attitudes of social science students in Israel and Austria towards the Belated Twins scenario-an exploratory study. PUBLIC UNDERSTANDING OF SCIENCE 19 (4): 435-451 JUL 2010

This article discusses results of a questionnaire survey of 156 university students in Israel and Austria examining reactions towards the Belated Twins scenario, which entails the artificial twinning of embryos of which one is immediately carried to term while the other one is born later. The scenario resembles a case of human reproductive cloning in terms of result (the creation of genetically identical individuals in a time-delayed manner) but it involves gamete fusion like “natural” reproduction. By means of qualitative text analysis we discuss the core themes mobilized both in support and opposition to the scenario. While Israeli and Austrian respondents held similar general attitudes (about half were in favour of legalizing Belated Twins, while about a third opposed it), they drew partly on different arguments to arrive at their conclusions. In both groups, uncertainty stemming from “novel” elements in the scenario was regularly interpreted as negatively exacerbating existing issues.

Godard, B; Ozdemir, V; Fortin, M; Egalite, N. Ethnocultural community leaders’ views and perceptions on biobanks and population specific genomic research: a qualitative research study.PUBLIC UNDERSTANDING OF SCIENCE 19 (4): 469-485 JUL 2010

Substantial investments were made in population based biobanks over the past decade. Ethnocultural community members are both sponsors and beneficiaries of biobanks. In addition, the success of biobank projects depends on community support and participation. Yet there are few empirical data on views, perceptions and interests of ethnocultural communities on biobanks. This silent gap in genomics, ethics and policy literatures has to be addressed. We conducted a qualitative research study with in-depth interviews of ethnocultural community leaders (e. g., members of the Canadian Parliament, school commissioners) on their perspectives concerning population specific genomics research and biobanks. An equal partnership model where public is not only informed, but also involved in decision-making processes was perceived as an essential democratic requisite. These empirical data on ethnocultural community leaders’ views, interests and perceptions identify several key socio-cultural and ethical factors that can be decisive for effective and sustainable community involvement in biobanks.

Picchioni, MM; Walshe, M; Toulopoulou, T; McDonald, C; Taylor, M; Waters-Metenier, S; Bramon, E; Regojo, A; Murray, RM; Rijsdijk, F. Genetic modelling of childhood social development and personality in twins and siblings with schizophrenia. PSYCHOLOGICAL MEDICINE 40 (8): 1305-1316 AUG 2010

Background. Abnormalities in early social development and personality are present in patients with schizophrenia and their unaffected relatives. This study aimed to establish the degree to which these childhood and adolescent developmental abnormalities are genetically determined.

Method. We used a combined twin and family study design (n = 531) to assess childhood and adolescent social adjustment and schizotypal personality traits in 98 twin pairs (n = 196) varying in their zygosity and concordance for schizophrenia and 156 sibling clusters (n = 335) varying in their concordance for schizophrenia.

Results. Schizophrenia was significantly associated with childhood and adolescent deficits in social adjustment and personality, with additive genetic effects being the main source of these phenotypic correlations.

Conclusions. Abnormalities of social adjustment and personality are present in children and adolescents who later develop schizophrenia, reflecting the influence of common genetic risk.

Ladd, M. Maps of beauty and disease: thoughts on genetics , confidentiality, and biological family. JOURNAL OF MEDICAL ETHICS 36 (8): 479-482 AUG 2010

The author explores the ethics of decision-making and confidentiality in donor insemination through the narrative of her experience having two children with a sperm donor who was later discovered to carry a gene for a serious heart disease, hypertrophic cardiomyopathy. Contrasting individualist and communitarian ethical models, she questions understandings of confidentiality that hamper the construction of a medical family tree, especially when prognosis and treatment depend on the larger familial profile of the disease. She also emphasises that for the patient family the discovery of biological family through the lens of transmitted illness leads to a shift in family identity that goes beyond the purely medical.

de Mouzon, J; Goossens, V; Bhattacharya, S; Castilla, JA; Ferraretti, AP; Korsak, V; Kupka, M; Nygren, KG; Andersen, AN. Assisted reproductive technology in Europe, 2006: results generated from European registers by ESHRE. HUMAN REPRODUCTION 25 (8): 1851-1862 AUG 2010

In this 10th European IVF-monitoring (EIM) report, the results of assisted reproductive techniques from treatments initiated in Europe during 2006 are presented. Data were mainly collected from existing national registers. From 32 countries, 998 clinics reported 458 759 treatment cycles including: IVF (117 318), ICSI (232 844), frozen embryo replacement (FER, 86 059), egg donation (ED, 12 685), preimplantation genetic diagnosis/screening (6561), in vitro maturation (247) and frozen oocytes replacements (3498). Overall this represents a 9.7% increase in activity since 2005, which is partly due to an increase in registers (seven more countries with complete coverage). European data on intrauterine insemination using husband/partner’s (IUI-H) and donor (IUI-D) semen were reported from 22 countries. A total of 134 261 IUI-H and 24 339 IUI-D cycles were included. In 20 countries, where all clinics reported to the IVF register, a total of 359 110 assisted reproductive technology (ART) cycles were performed in a population of 422.5 million, corresponding to 850 cycles per million inhabitants. For IVF, the clinical pregnancy rates per aspiration and per transfer were 29.0 and 32.4%, respectively. For ICSI, the corresponding rates were 29.9 and 33.0%. After IUI-H the delivery rate was 9.2% in women below 40. After IVF and ICSI the distribution of transfer of one, two, three and four or more embryos was 22.1, 57.3, 19.0 and 1.6%, respectively. Compared with 2005, fewer embryos were replaced per transfer, but significant national differences in practice were apparent. The proportion of singleton, twin and triplet deliveries after IVF and ICSI combined was 79.2, 19.9 and 0.9%, respectively. This gives a total multiple delivery rates of 20.8% compared with 21.8% in 2005 and 22.7% in 2004. IUI-H in women below 40 years of age resulted in 10.6 % twin and 0.6% triplet pregnancies.

Compared with previous years, the reported number of ART cycles in Europe has increased, pregnancy rates have increased marginally, even though fewer embryos were transferred and the multiple delivery rates have declined.

Hens, K; Snoeck, J; Nys, H; Cassiman, JJ; Dierickx, K. An exploratory survey of professionals on the use of stored tissue samples from minors for genetic research. GENETICS AND MOLECULAR RESEARCH 9 (2): 973-980 2010

The ethical aspects of the use of stored tissue samples collected from minors are of topical interest. However, the views of professionals working in the field of genetics have not been investigated in depth anywhere. We conducted a survey among 194 such professionals in Belgium. This list was composed of the members of the High Council for Anthropogenetics, supplemented with all professionals working in the field of genetics that we found on the websites of the eight Belgian centers of human genetics and of the associated university registries. We achieved a response rate of 35.5%. The vast majority (92%) think that research on stored tissue samples is useful. Most respondents stated that parental consent is valid (82.5%), and 76.5% thought that children should also be given the right to assent when they are able to comprehend the implications of the storage of biological samples and of genetic research. Slightly more than half put the age at which young people can understand storage or research rather high: 16-18 years (51 and 53.1%, respectively). Although there is some consensus in the literature that donors should be allowed to give broad consent for future research on their biological samples, only 47.6% in our survey thought that parents should be allowed to consent to any future research on their children’s samples. The aim of our study was to give some basis for future ethical reflections and policies on the subject of stored tissue samples from minors for genetic research. We concluded that a large majority of Belgian researchers and clinicians in the field of genetic research think research on stored tissue samples from minors is useful. They also think that parental consent for such research is valid, but that children should be allowed to assent as they grow older.

Hens, K; Dierickx, K. HUMAN TISSUE SAMPLES FOR RESEARCH. A FOCUS GROUP STUDY IN ADULTS AND TEENAGERS IN FLANDERS. GENETIC COUNSELING 21 (2): 157-168 2010

Human tissue samples for research. A focus group study in adults and teenagers in Flanders: Attitudes towards research on human stored tissue samples may be dependent on the cultural context. To-day, no data exist on the attitudes and values of the Flemish population towards such research. To query these attitudes, we conducted ten focus groups, composed of adults and of minors on the verge of legal competence. Amongst the focus group participants, we found a trust in the advancement of science, and a willingness to contribute tissue to research. The importance attributed to informed consent depended on the type of tissue donated and the effort needed to contribute. Participants did not see high risk associated with research on stored tissue, but thought there was a need for confidentiality protections. The coding of samples was deemed an appropriate protection. With regard to the return of research results, people expected to receive information that could be relevant to them, but the meaning of what is relevant was different between individuals.

Sandoval, B. Perspectives on FDA’s Regulation of Nanotechnology: Emerging Challenges and Potential Solutions. COMPREHENSIVE REVIEWS IN FOOD SCIENCE AND FOOD SAFETY 8 (4): 375-393 OCT 2009

While public attention has been focused on Escherichia coli outbreaks, genetic engineering, and mad cow disease, nanotechnology has quietly taken its place at the forefront of scientific innovation and is poised to revolutionize numerous industries and fields of study. Although nanotechnology has been on the radar of researchers and developers for decades, it is only in the past few years that real-world applications have become a pervasive reality. Some of the most promising applications are in the areas of consumer products regulated by the U. S. Food and Drug Administration (FDA), including new and over-the-counter drugs, medical devices, cosmetics, and food and food packaging. Despite the incredible social and economic potential of nanotechnology, FDA faces numerous hurdles in the regulation of these products. This article explores the current state of our scientific understanding of nanotechnology, human and environmental health and safety concerns, the strengths and weaknesses of FDA’s existing regulatory authority, and current efforts to address these and other issues relating to the development, understanding, and promotion of nanotechnology. In addition, the article proposes various regulatory and policy considerations FDA should take into account in addressing nano-based concerns.

Erez, A; Plunkett, K; Sutton, VR; McGuire, AL. The Right to Ignore Genetic Status of Late Onset Genetic Disease in the Genomic Era; Prenatal Testing for Huntington Disease as a Paradigm. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 152A (7): 1774-1780 JUL 2010

During the last decade, the field of human genome research has gone through a phase of rapid discovery that has provided scientists and physicians with a wide variety of research tools that are applicable to important medical issues. We describe a true case of familial Huntington disease (HD) in which we modified personal details to protect patient’s privacy, where the proband at risk preferred not to know his disease status but wanted to know the status in his unborn child. Once we found the father to be negative, the case raised an important ethical question regarding the management of this as well as future pregnancies. This article discusses the arguments for and against the right not to know of one’s carrier status, as well as professional obligations in the context of withholding unwanted information that may have direct implications not only for the patient himself but also for other family members. HD has served as a model for many other adult onset genetic diseases in terms of carrier testing guidelines. Hence, we feel it is time to revisit the issue of prenatal testing for HD and consider updating the current recommendations regarding the patient’s right to ” genetic ignorance”, or the right not to know genetic information.

Madsen, M; Andersen, AMN; Christensen, K; Andersen, PK; Osler, M. Does Educational Status Impact Adult Mortality in Denmark? A Twin Approach. AMERICAN JOURNAL OF EPIDEMIOLOGY 172 (2): 225-234 JUL 15 2010

To disentangle an independent effect of educational status on mortality risk from direct and indirect selection mechanisms, the authors used a discordant twin pair design, which allowed them to isolate the effect of education by means of adjustment for genetic and environmental confounding per design. The study is based on data from the Danish Twin Registry and Statistics Denmark. Using Cox regression, they estimated hazard ratios for mortality according to the highest attained education among 5,260 monozygotic and 11,088 dizygotic same-sex twin pairs born during 1921-1950 and followed during 1980-2008. Both standard cohort and intrapair analyses were conducted separately for zygosity, gender, and birth cohort. Educational differences in mortality were demonstrated in the standard cohort analyses but attenuated in the intrapair analyses in all subgroups but men born during 1921-1935, and no effect modification by zygosity was observed. Hence, the results are most compatible with an effect of early family environment in explaining the educational inequality in mortality. However, large educational differences were still reflected in mortality risk differences within twin pairs, thus supporting some degree of independent effect of education. In addition, the effect of education may be more pronounced in older cohorts of Danish men.

European Society of Human Genetics. Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes.  Eur J Hum Genet. 2010 Aug 25

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.

Clayton EW, Smith M, Fullerton SM, Burke W, McCarty CA, Koenig BA, McGuire AL, Beskow LM, Dressler L, Lemke AA, Ramos EM, Rodriguez LL; for the Consent and Community Consultation Working Group of the eMERGE Consortium. Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium. Genet Med. 2010 Aug 20.

Williams JK, Erwin C, Juhl A, Mills J, Brossman B, Paulsen JS.Personal Factors Associated with Reported Benefits of Huntington Disease Family History or Genetic Testing. Genet Test Mol Biomarkers. 2010 Aug 19

Aims: A family history of Huntington disease (HD) or receiving results of HD predictive genetic testing can influence individual well-being, family relationships, and social interactions in positive and negative ways. The aim of this study was to examine benefits reported by people with an HD family history or those who have undergone predictive HD testing, as well as the personal variables associated with perceived benefits. Methods: Seventy-four of 433 people completing the International Response of a Sample Population to HD risk (I-RESPOND-HD) survey reported benefits. Knowledge and understanding was perceived as the most common benefit from participants in both groups. The next most frequent perceived benefits from a family history were connecting with others and achieving life meaning and insights. The next most common perceived benefits from genetic testing were life planning and social support. The least common perceived benefit for both groups was renewed hope and optimism. Older age and spirituality were significantly associated with benefits in both groups. Conclusions: Perceptions of benefit may not be as likely until later years in people with prodromal HD. A developed sense of spirituality is identified as a personal resource associated with the perception of benefit from genetic testing for HD. Associations among spirituality, perceived benefits, and other indicators of personal and family well-being may be useful in genetic counseling and health care of people with prodromal HD.

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