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Article round-up: September 2010

4 November 2010

Dhondt, JL. Expanded newborn screening:  social  and  ethical  issues. JOURNAL OF INHERITED METABOLIC DISEASE 33: S211-S217 Suppl. 2 OCT 2010

Newborn screening and  genetic  testing have expanded rapidly in the last decade with the advent of multiplex (e.g., tandem mass spectrometry) and/or DNA technologies. However, screening panels include a large number of disorders, which may not meet all of the traditional screening criteria, established in late 1960s, and used for years to justify screening programs. After a period of expansion driven by technological advances, many reports have reconsidered the justification of expanded programs. Many factors have contributed to test-panel discrepancies between countries. The test-panel review methodology, the way health benefits are weighed against harms, and the socioeconomic-political environment all play a role. Expansion of screening also requires reconsideration of the infrastructure (ideally, in the context of national plans for rare diseases) to support testing, counselling, education, treatment, and follow-up. Consequently, economic aspects cannot be ignored and can be a limitation for expansion. New  ethical  questions have emerged: risks of discrimination or stigmatization, respect of the autonomy of persons to make decisions, parental anxiety resulting from a false positive test (especially when reporting to parents screening results for untreatable conditions identified as by-products of screening), etc. For disorders where there is not yet confirmation of benefit, it may be prudent to recommend pilot screening and to have a mechanism that can be used to adapt or even to stop a program.

Wicks, S; Hjern, A; Dalman, C  Social  Risk or  Genetic  Liability for Psychosis? A Study of Children Born in Sweden and Reared by Adoptive Parents. AMERICAN JOURNAL OF PSYCHIATRY 167 (10): 1240-1246 OCT 2010

Objective: Recent studies suggest a role for  social  factors during childhood in the later development of schizophrenia. Since  social  conditions in childhood are closely related to parental psychiatric illness, there is a need to disentangle how genes and  social  environmental factors interact.
Method: A total of 13,163 children born in Sweden between 1955 and 1984 and reared in Swedish adoptive families were linked to the National Patient Register until 2006 regarding admissions for nonaffective psychoses, including schizophrenia. Hazard ratios for nonaffective psychoses were estimated in relation to three indicators of socioeconomic position in childhood (household data of the rearing family obtained via linkage to the National Censuses of 1960-1985) and in relation to indicator of  genetic  liability (biological parental inpatient care for psychosis). In addition, the total Swedish-born population was investigated.
Results: Increased risks for nonaffective psychosis were found among adoptees without biological parental history of psychosis) reared in families with disadvantaged socioeconomic position, which consisted of adoptive parental unemployment (hazard ratio = 2.0), single-parent household (hazard ratio = 1.2), and living in apartments (hazard ratio = 1.3). The risk was also increased among persons with  genetic  liability for psychosis alone (hazard ratio = 4.7). Among those exposed to both  genetic  liability and a disadvantaged socioeconomic situation in childhood, the risk was considerably higher (hazard ratio = 15.0, 10.3, and 5.7 for parental unemployment, single-parent household, and apartment living, respectively). Analyses in the larger population supported these results.
Conclusions: The results indicate that children reared in families with a disadvantaged socioeconomic position have an increased risk for psychosis. There was also some support for an interaction effect, suggesting that  social  disadvantage increases this risk more in children with  genetic  liability for psychosis.

Bogner, A; Menz, W. How Politics Deals with Expert Dissent: The Case of  Ethics  Councils. SCIENCE TECHNOLOGY & HUMAN VALUES 35 (6): 888-914 NOV 2010

Over recent years, science and technology have been reassessed increasingly in  ethical  terms. Particularly for life science governance,  ethics  has become the dominant discourse. In the course of this '' ethical  turn'' national  ethics  councils were set up throughout Europe and in the United States to advice politics in  ethically  controversial issues such as stem cell research and  genetic  testing.  Ethics  experts have become subject to traditional warnings against expertocracy: they are suspected to unduly influence political decision-making. However, any reliable  ethics  expertise has to reflect societal disagreements in moral issues. Therefore, expert dissent is a normal feature of legitimate  ethics  expertise. Based on theoretical considerations we argue that in principle, expert dissent does not cause problems for political legitimacy; rather, it enhances the salience of politics: obviously decisions on  ethical  issues cannot be taken on the basis of expert knowledge alone. We therefore conclude that expert dissent, not consent, supports politics. Focussing on Germany and Austria, we show how politics deal with expert dissent in practice. While in Germany politics acknowledge dissent and use it to foster a fundamental political debate, Austrian politics attribute authoritative power to  ethics  expertise and try to construct an overall consensus. This illustrates how the drawing of boundaries between politic and expertise differs.

Hawkins, AK. Biobanks: Importance, Implications and Opportunities for  Genetic  Counselors. JOURNAL OF GENETIC COUNSELING 19 (5): 423-429 OCT 2010

Biobanks are collections of human biological tissue specimens and related health data. Biobank research hopes to provide novel insights into the  genetic  component of disease, ultimately leading to a more personalized approach to healthcare. However, biobanks have sparked debate due to the ethical , legal, and  social  implications surrounding utilization of population samples and data. These controversies include issues of consent, privacy and confidentiality, return of results and data-sharing. This paper provides an overview of the different types and scope of biobanks and an examination of the most pertinent  ethical , legal and  social  considerations surrounding such research, as well as how some of these concerns are being addressed. The paper finishes with a discussion of the relevance of biobanks to the  genetic  counseling field and concludes that  genetic counselors are in a position to make a unique, educated and practical contribution to the ongoing dialogue and direction of biobank research.

Zilliacus, EM; Meiser, B; Lobb, EA; Kirk, J; Warwick, L; Tucker, K. Women's Experience of Telehealth Cancer  Genetic  Counseling. JOURNAL OF GENETIC COUNSELING 19 (5): 463-472 OCT 2010

Telegenetics offers an alternative model of delivering  genetic  counseling to rural and outreach areas; however there is a dearth of qualitative research into the patient's experience. Twelve women who had received telemedicine  genetic  counseling for hereditary breast and/or ovarian cancer (HBOC) within the previous 12 months participated in a semi-structured telephone interview. The interview explored women's experience with telegenetics, satisfaction, perceived advantages and disadvantages and quality of the interaction with their  genetic  professionals. Overall women were highly satisfied with telegenetics. Telegenetics offered them convenience and reduced travel and associated costs. The majority of women described feeling a high degree of  social  presence, or rapport, with the off-site  genetic  clinician. One woman with a recent cancer diagnosis, reported that telemedicine was unable to meet her needs for psychosocial support. This finding highlights the need to be mindful of the psychosocial support needs of women with a recent diagnosis being seen via telegenetics. Patients attending for HBOC  genetic  counseling are generally highly satisfied with the technology and the interaction. Care should be taken, however, with patients with more complex psychosocial needs.

Turney, L. The failure of DNA forensic testing: a case study of the 2009 Australian bushfire disaster. NEW GENETICS AND SOCIETY 29 (3): 225-240 2010

Within science and technology studies there is a vast literature on the manner in which public inquiries and official investigations manage the political fallout and the failures of socio-technical systems in the wake of a disaster. This paper uses a case study example of public and media inquiry into the 2009 bushfires in Victoria, Australia to demonstrate how the sole reliance on biological, physical and  genetic  factors in victim identification unnecessarily delayed the reconciliation process and exacerbated the personal and  social  distress to families. In particular it analyses how, despite the lack of success in identifying bushfire victims using ogold standardo forensic technologies, including DNA testing, there was relatively little critique of the forensic process. Where dissatisfaction threatened to overflow as a result of brief media coverage of the unnecessary delays in returning the dead to their families, it was quickly contained. Many victims were ultimately identified through geo-location and e-witness accounts, but these were not sought nor considered valid until scientific methods failed. Earlier recognition of the value of these accounts and knowledge of the limitations of forensic technologies in a catastrophic fire disaster would have expedited the reconciliation process, allowing the bodies of victims to be returned to their families in a timely manner.

Richards, M. Reading the runes of my genome: a personal exploration of retail  genetics .NEW GENETICS AND SOCIETY 29 (3): 291-310 2010

Since 2007, retail  genetic  companies have offered personal genome scans: DNA testing based on single nucleotide polymorphisms (SNPs) which are interpreted to provide  genetic  risks of some common diseases and trait information. There is much discussion of the validity, benefits and risks of this testing, and its  ethics  and regulation, but little information about the experiences of those who have purchased this testing. This paper offers an autobiographical ethnography, describing the author's use of genome scans purchased from deCODEme and 23andMe. The  genetic  disease risks provided were generally very modest and there were significant variations in the risks from the two companies. Risks were skeptically interpreted through a frame of knowledge of family disease histories. It is suggested that this personal medicine is likely to disappoint and it does not live up to its claims. Rather than being empowering personalized medicine, these scans are a  geneticized  medicine of the  genomic  person.

Hawkins, AK; O'Doherty, K. Biobank governance: a lesson in trust.NEW GENETICS AND SOCIETY 29 (3): 311-327 2010

Biobanks are controversial due to their  ethical , legal, and  social  implications. Recent discussion has highlighted a central role for governance in helping to address these controversies. We argue that sustainable governance of biobanks needs to be informed by public discourse. We present an analysis of a deliberative public engagement to explore the public values, concerns, and interests underlying recommendations pertaining to biobank governance. In particular, we identify five themes underlying expressed goals and concerns of participants regarding the development, operation and application of biobank research. Ultimately, we argue that, for the deliberants, governance represented a way to achieve trust in biobanks through accountability, transparency and control. As discussion of biobank governance moves the conceptual to the specific, policy makers and researchers should acknowledge the importance of the public viewpoint in maintaining trust; this acknowledgement is of importance to the ultimate success and longevity of biobanks.

Hens, K; Dierickx, K. The use of stored tissue samples from minors for  genetic  research: interviews with professionals. NEW GENETICS AND SOCIETY 29 (3): 329-342 2010

Stored tissue sample collections from minors are useful for  genetic  research. The  ethics  of the use of stored tissue samples for  genetic  research continues be a much debated topic of discussion. The use of pediatric samples poses specific  ethical  questions. Although a substantial corpus of empirical literature exists on the use of samples from adults, not much is known about the opinion of professionals on the use of samples from children. We conducted ten interviews with professionals in the field. Their primary concerns were the fact that consent procedures should not be too bureaucratic, the need for proper research design and privacy protections, the fact that research should not burden children and guidance from  ethics  committees.

Oquendo, MA; Canino, G; Lehner, T; Licinio, J.  Genetic  repositories for the study of major psychiatric conditions: what do we know about ethnic minorities'  genetic  vulnerability?MOLECULAR PSYCHIATRY 15 (10): 970-975 OCT 2010

In spite of considerable efforts, no genes of major effect have been found across an entire diagnostic category in psychiatry. Possible reasons for this may include difficulties in defining the phenotype, the complex relationship between genotype and gene expression and population stratification. This last problem has often been managed by restricting  genetic  sampling to only one ethnic group. An unintended consequence of using this strategy is that the major repositories of  genetic  material for the study of psychiatric conditions in the United States suffer from a paucity of  genetic  samples from non-Caucasian groups. Thus, these groups are being relatively understudied in terms of the  genetic  antecedents to psychiatric disease. The authors provide solutions including the need to augment the representation of African-American, Latino and Asian-Americans among research participants; a more nuanced approach to identify ancestry; and the development of analytic and  genetic  strategies to handle the issue of ethnic heterogeneity in samples. 


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