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Article Round-up: March 2011

8 April 2011

Welcome to the March article round-up. As always comments are welcome.



Chervenak, FA; McCullough, LB. Ethical issues in perinatal genetics. SEMINARS IN FETAL & NEONATAL MEDICINE 16 (2): 70-73 APR 2011

Ethics is an essential dimension of perinatal genetics . This article introduces perinatologists to the ethical principles of beneficence and respect for autonomy and uses these ethical principles to articulate the ethical concept of the fetus as a patient. Together these constitute an ethical framework that we apply to risk assessment, in response to which women may be divided into four groups: prenatal genetic counseling, and the responsible management of pregnancies complicated by genetic anomalies of the fetus. (C) 2010 Elsevier Ltd. All rights reserved.

McCullough, LB. Arboriculture in Clinical Ethics : Using Philosophical Critical Appraisal to Clear Away Underbrush in Ethical Analysis and Argument. JOURNAL OF MEDICINE AND PHILOSOPHY 36 (1): 1-5 FEB 2011

This paper introduces the 2011 number of the Journal on Clinical Ethics . Philosophical critical appraisal is essential for the success of philosophical analysis and argument in clinical ethics . To clear away conceptual underbrush, papers in this Clinical Ethics number of the Journal address genetic engineering, conscience-based objections to forms of health care, placebos, and preventing exploitation of patients to be recruited to become research subjects.

Hens, K; Nys, H; Cassiman, JJ; Dierickx, K. The return of individual research findings in paediatric genetic research. JOURNAL OF MEDICAL ETHICS 37 (3): 179-183 MAR 2011

The combination of the issue of return of individual genetic results/incidental findings and paediatric biobanks is not much discussed in ethical literature. The traditional arguments pro and con return of such findings focus on principles such as respect for persons, autonomy and solidarity. Two dimensions have been distilled from the discussion on return of individual results in a genetic research context: the respect for a participant’s autonomy and the duty of the researcher. Concepts such as autonomy and solidarity do not fit easily in the discussion when paediatric biobanks are concerned. Although parents may be allowed to enrol children in minimal risk genetic research on stored tissue samples, they should not be given the option to opt out of receiving important health information. Also, children have a right to an open future: parents do not have the right to access any genetic data that a biobank holds on their children. In this respect, the guidelines on genetic testing of minors are applicable. With regard to the duty of the researcher the question of whether researchers have a more stringent duty to return important health information when their research subjects are children is more difficult to answer. A researcher’s primary duty is to perform useful research, a policy to return individual results must not hamper this task. The fact that vulnerable children are concerned, is an additional factor that should be considered when a policy of returning results is laid down for a specific collection or research project.

Hundt, GL; Bryanston, C; Lowe, P; Cross, S; Sandall, J; Spencer, K. Inside ‘Inside View’: reflections on stimulating debate and engagement through a multimedia live theatre production on the dilemmas and issues of pre-natal screening policy and practice. HEALTH EXPECTATIONS 14 (1): 1-9 MAR 2011

Background The role of applied theatre in engaging both lay and professional publics with debate on health policy and practice is an emergent field. This paper discusses the development, production performance and discussion of ‘Inside View’.1 Objectives The objectives were to produce applied theatre from research findings of a completed study on genetic prenatal screening, exploring the dilemmas for women and health professionals of prenatal genetic screening, and to engage audiences in debate and reflection on the dilemmas of prenatal genetic screening. Methods ‘Inside View’ was developed from a multidisciplinary research study through identification of emergent themes from qualitative interviews, and development of these by the writer, theatre producer and media technologist with input from the researchers. Findings Inside View was performed in London and the Midlands to varied audiences with a panel discussion and evaluation post performance. The audiences were engaged in debate that was relevant to them professionally and personally. Knowledge translation through applied theatre is an effective tool for engaging the public but the impact subsequently is unclear. There are ethical issues of unexpected disclosure during discussion post performance and the process of transforming research findings into applied theatre requires time and trust within the multidisciplinary team as well as adequate resourcing.

Kenen, R; Ardern-Jones, A; Lynch, E; Eeles, R. Ownership of Uncertainty: Healthcare Professionals Counseling and Treating Women from Hereditary Breast and Ovarian Cancer Families Who Receive an Inconclusive BRCA1/2 Genetic Test Result. GENETIC TESTING AND MOLECULAR BIOMARKERS 15 (4): 243-250 APR 2011

Aim: The aim of this study was to understand more fully how healthcare professionals deal with the uncertainty intrinsic in counseling and treating women from hereditary breast/ovarian cancer families who receive inconclusive BRCA1/2 genetic test results ( genetic tests that do not find a mutation to account for the family history). Methods: We conducted a small, qualitative, exploratory study using open-ended semistructured interviews of 12 geneticists , genetic counselor/nurses, oncologists, gynecologists, and breast surgeons at a major UK cancer center. We asked questions about how these professionals dealt with the large amount of uncertainty raised by an inconclusive result, how they communicated the uncertainty involved, their feelings about presenting medical management options based on information fraught with uncertainty, the role of the media, differences in perspectives by specialty, and personal feelings about the uncertainty. Results: Based on themes generated by the data, we proposed the concept “ownership of uncertainty” (sole, shared, diffused, normalized, transferred) to explain how the professionals in this study dealt with this high degree of uncertainty. A shared ownership of uncertainty was the dominant model during the presentation of information given by the professionals as part of their consultation with their patients. However, the final decision for management was left primarily to the woman seeking advice, even though several of the professionals reported feeling uneasy about this. Conclusion: The concept “ownership of uncertainty” helps advance the understanding of how the healthcare professionals deal with the uncertainty intrinsic to an inconclusive BRCA1/2 genetic test result within the current social context.

van El, CG; Cornel, MC. Genetic testing and common disorders in a public health framework Recommendations of the European Society of Human Genetics. EUROPEAN JOURNAL OF HUMAN GENETICS 18: S1-S5 Suppl. 1 APR 2011

In recent years, the attention of the genomics and genetics research community has shifted toward understanding the basis of common disorders. The spectacular growth of genome-wide association studies has shed new light on the variants influencing risk factors. Understanding pathogenesis and etiology, and finding new ways to prevent and treat those diseases are major challenges. In the era of genomics, a promise of personalized prevention and drug treatment is presented, which many people meet with enthusiasm but which others call into question. The Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG), EuroGentest and the Institute for Prospective Technological Studies (IPTS) convened to discuss the relevance and possibilities of genetic testing for common disorders. Currently (in 2010), the genetics research community is skeptical about the possibilities of genetic susceptibility testing and screening contributing significantly to the improvement of the quality of health care. Meanwhile, some applications of very limited clinical utility have become available directly to consumers. Recently, the PPPC published critical recommendations on policy concerning DTC genetic testing (EJHG, 25 August 2010). When considering the potential of new genomic developments for a public health perspective, this Background Document takes the spectrum ranging from monogenic disorders on the one hand to common complex disorders on the other hand into account. It is argued that associations between genetic variants and disease risks of clinical relevance have been established, for instance for hereditary breast and ovarian cancer, colon cancer, diabetes mellitus (MODY subtypes), thrombosis, cardiovascular disorders, celiac disease and Alzheimer’s disease. Although these examples relate to the monogenic subforms of common disease, they can nevertheless be used to reflect on the possibilities and relevant obstacles in using the new genetics in public health. The deliberations, reflected in the final Background Document, have led to the below recommendations from the PPPC concerning the pitfalls and possibilities of genetic testing in common disorders. A draft of both the Background Document and Recommendations has been distributed and posted on the web during the summer of 2009 to elicit further comments. The PPPC and the Board of the ESHG approved the final version. This final text is considered to reflect the views of the European human genetics scientific and professional community.

Krementsov, N. From ‘Beastly Philosophy’ to Medical Genetics : Eugenics in Russia and the Soviet Union. ANNALS OF SCIENCE 68 (1): 61-92 2011

This essay offers an overview of the three distinct periods in the development of Russian eugenics: Imperial (1900-1917), Bolshevik (1917-1929), and Stalinist (1930-1939). Began during the Imperial era as a particular discourse on the issues of human heredity, diversity, and evolution, in the early years of the Bolshevik rule eugenics was quickly institutionalized as a scientific discipline-complete with societies, research establishments, and periodicals-that aspired an extensive grassroots following, generated lively public debates, and exerted considerable influence on a range of medical, public health, and social policies. In the late 1920s, in the wake of Joseph Stalin’s ‘Great Break’, eugenics came under intense critique as a ‘bourgeois’ science and its proponents quickly reconstituted their enterprise as ‘medical genetics ‘. Yet, after a brief period of rapid growth during the early 1930s, medical genetics was dismantled as a ‘fascist science’ towards the end of the decade. Based on published and original research, this essay examines the factors that account for such an unusual-as compared to the development of eugenics in other locales during the same period-historical trajectory of Russian eugenics.

Peters, KF; Petrill, SA. Development of a Scale to Assess the Background, Needs, and Expectations of Genetic Counseling Clients. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 155A (4): 673-683 APR 2011

Genetic professionals seek to tailor their counseling to meet the background, needs, and expectations (BNE) of their clients. We present the development of a new instrument, the BNE Scale, designed to assess BNE in genetic counseling clients. The initial items for the scale were created based on a review of the literature and clinical experience. The draft scale was piloted tested with 10 subjects, using cognitive interviewing techniques. Based on those results, a revised 82-item-scale was created and posted online. It was completed by 608 adult subjects who have experience with Down syndrome, Marfan syndrome, or neurofibromatosis. Responses were analyzed in aggregate based on clinically relevant item groupings. Exploratory factor analysis was used to refine the item groupings, and these groups were evaluated for reliability and cross-correlations. As a result, 61 items across 16 subscales were retained for the final BNE Scale. Further, the subscales were segregated thematically into four groups: (1) Beliefs which includes the Consequences, Unsureness, Feelings, and Treatment subscales, (2) Social Support which includes the Spousal (or Partner) Support, Family Support, Friend Support, Healthcare Provider Support, Faith/God Support, and Support Group Interest subscales, (3) Needs which includes the Need for Information, Need for Context, and Need for Provider Input subscales, and (4) Expectations which includes the Education, Counseling, and Desired Feelings subscales. These data provide initial support for the BNE Scale as a psychometrically acceptable means to assess the clients’ background, needs and expectations of genetic counseling.


The paper discusses, from a bioethical perspective, various positive and negative consequences that the spectacular developments in medical sciences and biotechnologies have on the future evolution of society and humankind. Among the positive consequences specially emphasized by the transhumanism representatives are: a better understanding of disease mechanisms, more effective treatments with increased economic and social benefits, more precise therapies, less side effects, a more efficient use of resources in health care, improved health condition and increased quality of life. The negative effects, critically analysed by bio-conservatives include the danger of new forms of genetic discrimination, the underestimation of social and environmental factors in interpreting diseases and health condition, changed attitudes towards parenthood, increased social inequities, increased dependence due to population ageing, etc. Bioethics attempts to combine biotechnological knowledge with human values and thus design a set of principles and norms according to which the new scientific discoveries would be used to the benefit of mankind and society and not to their prejudice. Bioethics also emphasizes that research must not attempt to reshape the common human being, that human diversity, equality and dignity must be respected and that we need to avoid manipulations aimed at creating human groups with special qualities, which would result in the alienation of the others.


Hereditary predisposition to breast and ovarian cancer is mainly attributable to tumor suppressor genes BRCA1 and BRCA2. Together, these two genes account for up to 80% of cancer cases in hereditary breast and ovarian cancer (HBOC) families. Molecular diagnosis is nowadays standard practice in western world and allows medical oncogenetic follow-up for BRCA mutation carriers and for their families. Close surveillance of patients includes early and more frequent mammography and pelvic examinations for the early detection of ovarian cancer, while preventive measures are mostly limited to prophylactic surgery, most notably the annexectomy in post-reproductive women to reduce the risk of both ovarian and breast cancer. Informing patients about the possibility or necessity of molecular tests, as well as communicating test results to patients, are medical practices linked to many ethical aspects, including informed consent and confidentiality. Informing the relatives about cancer predisposition results and implications belongs to the patient; still, in some cases, the patient refuses to know the result or to inform other family members. The ethical implications of informing or not the relatives, especially when they are children or adolescent daughters, are discussed in this article through four concrete cases. Genetic counseling copes with the complex intra-family communication dynamics, because the genetic information affects parents, children and sometimes the entire extended family.

Feret, H; Conway, L; Austin, JC. Genetic counselors’ attitudes towards individuals with schizophrenia: Desire for social distance and endorsement of stereotypes. PATIENT EDUCATION AND COUNSELING 82 (1): 69-73 JAN 2011

Objective: Psychiatric disorders are profoundly stigmatized conditions. Many groups of healthcare professionals harbor negative attitudes towards affected individuals, which may interfere with the healthcare relationship, but genetic counselors’ attitudes towards individuals with psychiatric disorders have not been investigated. Thus, we conducted an exploratory study to assess genetic counselors’ desire for social distance from individuals with schizophrenia, and the degree to which stereotypes about people with schizophrenia were endorsed. Methods: Members of the National Society of Genetic Counselors were invited to complete an online survey, which included scales measuring: desire for social distance from individuals with schizophrenia, and endorsement of positive and negative stereotypes about these individuals. Results: In total, 142 surveys were completed. Genetic counselors expressed greater desire for social distance from an individual with schizophrenia in more intimate proposed relationship scenarios, and felt negative stereotypes about affected individuals were more typifying than positive stereotypes. Experience with psychiatric disorders did not significantly affect desired social distance or stereotypical attitudes. Conclusions: Genetic counselors express some negative attitudes towards individuals with schizophrenia, which may impede the counselor/client relationship. Future research in this area is suggested. Practice implications: Efforts should be made to promote positive attitudes, which would improve the ability of genetic counselors to provide optimal service for individuals with schizophrenia and their families.


This paper traces the early (1910s to 1920s) development of Swedish eugenics through a study of the social network that promoted it. The eugenics network consisted mainly of academics from a variety of disciplines, but with medicine and biology dominating; connections with German scientists who would later shape Nazi biopolitics were strong. The paper shows how the network used political lobbying (for example, using contacts with academically accomplished MPs) and various media strategies to gain scientific and political support for their cause, where a major goal was the creation of a eugenics institute (which opened in 1922). It also outlines the eugenic vision of the institute’s first director, Herman Lundborg. In effect the network, and in particular Lundborg, promoted the view that politics should be guided by eugenics and by a genetically superior elite. The selling of eugenics in Sweden is an example of the co-production of science and social order.


This paper demonstrates that accounting for the moral harm of selecting for deafness is not as simple or obvious as the widespread negative response from the hearing community would suggest. The central questions addressed by the paper are whether our moral disquiet with regard to selecting for deafness can be adequately defended, and if so, what this might entail. The paper considers several different strategies for accounting for the supposed moral harm of selecting for deafness and concludes that the deaf case cannot be treated in isolation. Accounting for the moral harm of selecting for deafness necessarily entails moral implications for other cases of procreation and procreative decision-making, including unassisted coital reproduction. The lesson to be learned from the deaf case is that we need norms that govern not just the use of reproductive technology, but procreation and procreative decision-making in all of its various forms.


Biobanks for long-term research pose challenges to the legal and ethical validity of consent to participate. Different models of consent have been proposed to answer some of these challenges. This paper contributes to this discussion by considering the meaning and value of consent to participants in biobanks. Empirical data from a qualitative study is used to provide a participant view of the consent process and to demonstrate that, despite limited understanding of the research, consent provides the research participants with some level of control and a form of self determination that they value. Participation is framed as a moral act of a responsible citizen providing reinforcement of self identity. Consent symbolizes the trust invested in researchers and research institutions to use the biobank for the public good. The paper argues that consent continues to play an important role in biobank participation and that a participant view should inform proposals to modify consent processes.

Haddow, G; Cunningham-Burley, S; Murray, L. Can the governance of a population genetic data bank effect recruitment? Evidence from the public consultation of Generation Scotland. PUBLIC UNDERSTANDING OF SCIENCE 20 (1): 117-129 JAN 2011

Our objective was to identify an acceptable governance model for population genetic data banks through measuring the importance of different ethical and social concerns and their relationship to reported likelihood to participate. We conducted a face-to-face interview survey of 1,001 members of the general adult Scottish population who were 16 and over, and included a discrete choice experiment. The results showed a quarter of respondents said that they were certain or very likely to take part in genetic database research. However, reported willingness to participate seemed to be unaffected by further information or governance options. We conclude participation is driven by personal and mundane, everyday factors rather than concerns about governance. However, this should not be seen as a reason to relax the transparent and robust governance frameworks currently under development.

Weiss, SF. After the Fall Political Whitewashing, Professional Posturing, and Personal Refashioning in the Postwar Career of Otmar Freiherr von Verschuer. ISIS 101 (4): 722-758 DEC 2010

Despite the numerous books and articles preoccupied with the formidable legitimizing role and unethical medical transgressions of the German human geneticist Otmar von Verschuer (1896-1969) during the Third Reich, scholars have neglected to focus on his career trajectory during the postwar period, especially in the years after he received the first chair of genetics on German soil in 1951. While an examination of von Verschuer’s trials, tribulations, and ultimate triumph in post-1945 West Germany is fascinating in its own right, it also raises broader historical issues. First, it lays bare the professional posturing of German biomedical scientists as they attempted to retake control over their once tainted fields of research when Cold War realities opened a window of opportunity for them. Second, it reveals the fine line between adherence to professional ethics and disciplinary solidarity when scientists were faced with a potential outside threat to their profession. Finally, such an analysis demonstrates the macromechanics of professional refashioning on the part of the publicly tainted scientists as they forged a new symbiosis between their field and the politics of a new era in the interest of pursuing research.

Houwink, EJF; van Luijk, SJ; Henneman, L; van der Vleuten, C; Dinant, GJ; Cornel, MC. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives. BMC FAMILY PRACTICE 12: Art. No. 5 FEB 17 2011

Background: Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training) and master (midwifery training) programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care) and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals. Methods: Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified. Results: Four themes emerged regarding the educational needs and the role of genetics in primary care: (1) genetics knowledge, (2) family history, (3) ethical dilemmas and psychosocial effects in relation to genetics and (4) insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies. Conclusion: The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers’ competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for general practitioners and midwives.

Hoeyer, K. The Ethics of Research Biobanking: A Critical Review of the Literature. BIOTECHNOLOGY AND GENETIC ENGINEERING REVIEWS, VOL 25 25: 429-452 2008

Human tissue has been stored and used for research on a regular basis for more than 80 years. During the 1990s, collections of human tissue suddenly became framed as ethical problems in a process reflecting developments in genetic research intertwined with developments in patient rights and steps towards increased commercialization of research. This review describes the process of framing tissue storage as an ethical problem and the solutions proposed in the process. It gives an overview of the academic debate and relates this debate to empirical studies of donor attitudes and interests. It points to the clear discrepancy between the concerns of donors, legislators and ethicists . The academic debate and legislatory action tend to focus on informed consent, and most of the concerns that donors have remain unattended to.

Panofsky, A. Generating sociability to drive science: Patient advocacy organizations and genetics research. SOCIAL STUDIES OF SCIENCE 41 (1): 31-57 FEB 2011

This paper examines how patient advocacy organizations (PAOs) representing those with rare genetic disorders drive research to their concerns. The rarity of the diseases produces a basic condition of marginalization: small numbers of widely distributed disease sufferers. The lack of promise of an eventual market makes it difficult to attract the economic and biological resources necessary for sustained research. My analysis relies mainly on 21 interviews with leaders from nine PAOs and scientists involved with them, and seeks to understand how PAOs try to attract and influence scientific research. Using a comparative framework, I find that the five main mechanisms emphasized in the literature – economic resources, social movement-style mobilization, moving early, lay expertise, and organizational controls – cannot fully explain the differences in strategies and relationships among members of my PAO sample. I propose instead to show how ‘sociability’ – forging close relationships with scientists and orchestrating relationships among them – enables PAOs to drive research to their concerns. I show how the strategic manipulation of sociability can give PAOs substantial influence over the research process. However, the forms of sociability that yield the greatest effects are difficult to achieve, and most forms of relationship-building offer PAOs much less influence on research.

Topsakal, UU. Opinions on genetic engineering studies of primary school students in Turkey. SCIENTIFIC RESEARCH AND ESSAYS 6 (2): 229-235 JAN 18 2011

In this research, what primary school 8(th) class students think about the genetic studies and what were their views and attitudes concerning these studies were examined. An information-oriented descriptive survey method was adopted as the research method. The research has been carried out in 12 primary schools which were chosen in 7 provinces of Turkey, from different regions. Schools and provinces were randomly selected for this research. In total, 860 8(th) class students, 418 girls and 442 boys, participated in our research. The data obtained were evaluated using the SPSS 14 package program. In order to examine the students’ opinions in depth, semi-structured interviews were also conducted with 5 female students and 5 male students. The data collected for the research were obtained during the school year 2008 to 2009. As a result of the research, the viewpoints of the primary school 8(th) class students for the genetic studies were revealed. 59% of the students who participated in the survey said that genetic studies are necessary if used for the right purposes. Also, they stated that genetic studies should further focus on microorganisms.

Rimoin, DL. The American College of Medical Genetics , the first 20 years. GENETICS IN MEDICINE 13 (3): 179-187 MAR 2011

The American College of Medical Genetics (ACMG) celebrates its 20th anniversary this month, having been founded in March of 1991. The ACMG has firmly established itself as a major medical association representing the needs of the many patients with genetic disorders and the expanding number of genetic clinical and laboratory professionals that strive to diagnose, treat and prevent these disorders. Over the last two decades they have had major accomplishments related to their original mission: They have become members of the American Medical Association House of Delegates and the American Board of Medical Specialists, pushed through laboratory Current Procedural Terminology codes, developed a manual for billing and reimbursement, have been active in a number of national arenas including Health and Human Services, Food and Drug Administration, Center for Disease Control, National Institutes of Health and with other professional organizations (College of American Pathologists, American College of Obstetricians and Gynecologists, American Society of Clinical Oncology). They have secured grant funding, developed major educational programs (Board courses, MOC modules, CD-ROMS), a well respected medical journal, a successful and well attended annual meeting, major relationships with industry, and have been leaders in the legal arena, challenging patents for genetic testing, etc. In the future, the tools and knowledge of medical genetics will permeate all of medicine and the ACMG should embrace, encourage and assist all of those varying medical specialists, counselors, nurses and scientists who are involved in providing genetic services. Genet Med 2011: 13(3): 179-187.

Sharp, RR. Downsizing genomic medicine: Approaching the ethical complexity of whole-genome sequencing by starting small. GENETICS IN MEDICINE 13 (3): 191-194 MAR 2011

As we look to a time when whole-genome sequencing is integrated into patient care, it is possible to anticipate a number of ethical challenges that will need to be addressed. The most intractable of these concern informed consent and the responsible management of very large amounts of genetic information. Given the range of possible findings, it remains unclear to what extent it will be possible to obtain meaningful patient consent to genomic testing. Equally unclear is how clinicians will disseminate the enormous volume of genetic information produced by whole-genome sequencing. Toward developing practical strategies for managing these ethical challenges, we propose a research agenda that approaches multiplexed forms of clinical genetic testing as natural laboratories in which to develop best practices for managing the ethical complexities of genomic medicine.


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