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Article round up: June 2010

9 July 2010

So after a hiatus, caused by writing up a PhD, the article round-up returns. In a change from our scheduled programming the selected reviews will be on extended leave until the PhD is submitted. Feel free to submit your own though. And so, onto this months selection. Comments welcome as always. Stuart

Resta, RG; Veach, PM; Charles, S; Vogel, K; Blase, T; Palmer, CGS. Publishing a Master’s Thesis: A Guide for Novice Authors. JOURNAL OF GENETIC COUNSELING 19 (3): 217-227 JUN 2010

Publication of original research, clinical experiences, and critical reviews of literature are vital to the growth of the genetic counseling field, delivery of genetic counseling services, and professional development of genetic counselors. Busy clinical schedules, lack of time and funding, and training that emphasizes clinical skills over research skills may make it difficult for new genetic counselors to turn their thesis projects into publications. This paper summarizes and elaborates upon a presentation aimed at de-mystifying the publishing process given at the 2008 National Society of Genetic Counselors Annual Education Conference. Specific topics include familiarizing prospective authors, particularly genetic counseling students, with the basics of the publication process and related ethical considerations. Former students’ experiences with publishing master’s theses also are described in hopes of encouraging new genetic counselors to submit for publ cation papers based on their thesis projects.

Park, J; Willmott, M; Vetuz, G; Toye, C; Kirley, A; Hawi, Z; Brookes, KJ; Gill, M; Kent, L. Evidence that genetic variation in the oxytocin receptor (OXTR) gene influences social cognition in ADHD. PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY 34 (4): 697-702 MAY 30 2010

Some children with ADHD also have social and communication difficulties similar to those seen in children with autistic spectrum disorders and this may be due to shared genetic liability. As the oxytocin receptor (OXTR) gene has been implicated in social cognition and autistic spectrum disorders, this study investigated whether OXTR polymorphisms previously implicated in autism were associated with ADHD and whether they influenced OXTR mRNA expression in 27 normal human amygdala brain samples. The family-based association sample consisted of 450 DSM-IV diagnosed ADHD probands and their parents. Although there was no association with the ADHD phenotype, an association with social cognitive impairments in a subset of the ADHD probands (N = 112) was found for SNP rs53576 (F = 5.24, p = 0.007) with post-hoc tests demonstrating that the AA genotype was associated with better social ability compared to the AG genotype. Additionally, significant association was also found for rs13316193 (F = 3.09, p = 0.05) with post-hoc tests demonstrating that the CC genotype was significantly associated with poorer social ability than the TT genotype. No significant association between genotype and OXTR mRNA expression was found. This study supports previous evidence that the OXTR gene is implicated in social cognition.

Sparrow, R. Better than Men? Sex and the Therapy/Enhancement Distinction. KENNEDY INSTITUTE OF ETHICS JOURNAL 20 (2): 115-144 Sp. Iss. SI JUN 2010.

The normative significance of the distinction between therapy and enhancement has come under sustained philosophical attack in recent discussions of the ethics of shaping future persons by means of advanced genetic technologies. Giving up the idea that whether a condition is normal or not should play a crucial role in assessing the ethics of genetic interventions has unrecognized and strongly counterintuitive implications when it comes to selecting what sort of children should be brought into the world. According to standard philosophical accounts of the factors one should take into account when making such decisions, women are “better than men.” Given the biological differences between the sexes, then, if the only concern is the capacities of an embryo rather than its capacities relative to some normatively significant baseline, there is compelling reason to choose only female embryos. In order to avoid this radical and counterintuitive conclusion, one must embrace the idea that both sexes are normal. The strength of the prima facie reasons to select or reject embryos depends on their sex, which is to say that it depends on the normal capacities of their sex. The therapy/enhancement distinction therefore plays a crucial role in determining the ethics of interventions into the genetics of future generations.

Ferrara, S; Bajanowski, T; Cecchi, R; Snenghi, R; Case, C; Viel, GBio-medicolegal guidelines and protocols: survey and future perspectives in Europe. INTERNATIONAL JOURNAL OF LEGAL MEDICINE 124 (4): 345-350 JUL 2010.

The preservation of uniqueness and the enhancement of the value of evidence in legal medicine is based on the implementation and development of a “quality management system,” which includes a continuous education of specialists, the introduction and application of guidelines and protocols, as well as mechanisms of internal quality control. This ongoing process shows differences with regard to various fields of knowledge such as forensic genetics, toxicology, forensic pathology or forensic psychiatry, especially if different European countries are compared. To get an overview on the development of legal medicine in different European countries, a questionnaire was developed and sent to representatives of 42 European countries to verify the existence of bio-medicolegal guidelines and protocols. A National Society of Legal Medicine is established in 27 out of 32 countries (84%) which could be included in the final analyses. In 25 countries (78%), a specialisation is necessary as a prerequisite of inclusion in a national register, and 30 of the countries (94%) have guidelines in at least one field of legal medicine. The most common guidelines concern forensic pathology (in the fields of professional qualification and sudden death), forensic toxicology (driving under the influence of drugs and substance testing) and forensic genetics (paternity testing and personal identification). The findings of this study show that comparison is possible and can be a basis for further consensus in the European medicolegal community. The process of harmonisation of the medicolegal autopsy rules in Europe initiated in 1990 was a first step on this way. Further consensus is necessary and might be gained by developing European guidelines for each field within the subdisciplines, based on a standard European Guideline Format.

Sims, CA; Callum, P; Ray, M; Iger, J; Falk, RE. Genetic testing of sperm donors: survey of current practices. FERTILITY AND STERILITY 94 (1): 126-129 JUN 2010.

Objective: To determine which genetic tests are being performed on sperm donor applicants in the United States. Design: An electronic survey was distributed to 26 sperm banks to evaluate their genetic testing practices. Setting: Sperm banks in the United States. Patient(s): Not applicable. Intervention(s): None. Survey of current practices. Main Outcome Measure(s): Survey of current practices. Result(s): Cystic fibrosis (CF) carrier screening, chromosome analyses, and hemoglobin evaluations are performed on the majority of sperm donor applicants. Tay-Sachs disease carrier screening is performed on most donors with Jewish heritage but there is significant variation in screening for other disorders that occur with increased frequency in this population. Individual sperm banks use different laboratory tests for evaluation of the same conditions, with each test having different carrier detection rates and interpretations. Conclusion(s): The genetic testing performed on sperm donors varies significantly at sperm banks across the United States. Therefore, recipients should be clearly informed about the specific evaluations performed on their donor of interest. Thus it is important that sperm banks employ genetic professionals to evaluate the donors’ and recipients’ medical histories and perform a genetic risk assessment. This will allow clients to make informed decisions about use of semen specimens from an anonymous sperm donor.

Sims, CA; Callum, P; Ray, M; Iger, J; Falk, RE. Low uptake of prenatal diagnosis after established carrier status of a balanced structural chromosome abnormality in couples with recurrent miscarriage. FERTILITY AND STERILITY 94 (1): 296-U1305 JUN 2010.

Objective: To evaluate to what extent couples carrying a balanced structural chromosome abnormality follow up the advice to opt for invasive prenatal diagnosis (PND) in subsequent pregnancies. Design: Index-control study. Setting: Six centers for Clinical Genetics in The Netherlands. Patient(s): Couples referred for chromosome analysis after recurrent miscarriage between 1992 and 2001 and with at least one pregnancy after disclosure; 239 carrier couples and 389 noncarrier couples. Intervention(s): Questionnaire, medical record checking. Main Outcome Measure(s): Uptake of invasive PND. Result(s): Only 53 of 239 (22%) carrier couples underwent a PND procedure (CVS or amniocentesis) in all subsequent pregnancies. A relatively high number, 105 (44%) carrier couples, refrained from PND in all subsequent pregnancies. More carrier couples with maternal age >= 36 years (20/33 = 61%) refrained from PND, compared with carrier couples with maternal age <36 years (85/206 = 41%). In women >= 36 years, an equal proportion of carrier and noncarrier couples refrained from PND (61% vs. 54%). Conclusion(s): The advice to opt for invasive PND in carrier couples is poorly followed, especially in carrier couples with maternal age >= 36 years. The motivations of carrier couples to opt for or refrain from invasive PND procedures should be the topic for further research to optimize clinical care and informative decision making.

Tasse, AM; Budin-Ljosne, I; Knoppers, BM; Harris, JR. Retrospective access to data: the ENGAGE consent experience. EUROPEAN JOURNAL OF HUMAN GENETICS 18 (7): 741-745 JUL 2010.

The rapid emergence of large-scale genetic databases raises issues at the nexus of medical law and ethics, as well as the need, at both national and international levels, for an appropriate and effective framework for their governance. This is even more so for retrospective access to data for secondary uses, wherein the original consent did not foresee such use. The first part of this paper provides a brief historical overview of the ethical and legal frameworks governing consent issues in biobanking generally, before turning to the secondary use of retrospective data in epidemiological biobanks. Such use raises particularly complex issues when (1) the original consent provided is restricted; (2) the minor research subject reaches legal age; (3) the research subject dies; or (4) samples and data were obtained during medical care. Our analysis demonstrates the inconclusive, and even contradictory, nature of guidelines and confirms the current lack of compatible regulations. The second part of this paper uses the European Network for Genetic and Genomic Epidemiology (ENGAGE Consortium) as a case study to illustrate the challenges of research using previously collected data sets in Europe. Our study of 52 ENGAGE consent forms and information documents shows that a broad range of mechanisms were developed to enable secondary use of the data that are part of the ENGAGE Consortium.

Bombard, Y; Miller, FA; Hayeems, RZ; Avard, D; Knoppers, BM. Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening. EUROPEAN JOURNAL OF HUMAN GENETICS 18 (7): 751-760 JUL 2010.

The expansion of newborn screening (NBS) has been accompanied by debate about what benefits should be achieved and the role of parental discretion in their pursuit. The opportunity to inform parents of reproductive risks is among the most valued additional benefits gained through NBS, and assumes prominence where the primary goal of identifying a treatable condition is not assured. We reviewed 53 unique guidelines addressing prenatal, preconception and newborn screening to examine: (1) how generating reproductive risk information is construed as a benefit of screening; and (2) what conditions support the realization of this benefit. Most preconception and prenatal guidelines – where generating reproductive risk information is described as a primary benefit – required that individuals be given a ‘cascade of choices’, ensuring that each step in the decision-making process was well informed, from deciding to pursue information about reproductive risks to deciding how to manage them. With the exception of three guidelines, NBS policy infrequently attended to the potential for reproductive benefits; further, most guidelines that acknowledged such benefits construed voluntarism narrowly, without attention to the choices attendant on receiving reproductive risk information. This review suggests that prenatal and preconception guidance identifies a coherent framework to support the pursuit of reproductive benefits through population screening programmes. Interestingly, attention to reproductive benefits is increasing among NBS guidance, yet reflection on how such benefits ought to be pursued remains limited. Traditional norms for NBS may require reconsideration where the remit of screening exceeds the primary goal of clinical benefits for infants.

Sparrow, R; Cram, D. Saviour embryos? Preimplantation genetic diagnosis as a therapeutic technology. REPRODUCTIVE BIOMEDICINE ONLINE 20 (5): 667-674 MAY 2010

The creation of ‘saviour siblings’ is one of the most controversial uses of preimplantation genetic diagnosis (PGD). This paper outlines and invites ethical discussion of an extension of this technology, namely, the creation of ‘saviour embryos’ to serve as a source of stem cells to be used in potentially life-saving therapy for an existing child. A number of analogies between this hypothetical use of PGD and existing uses of IVF are offered and, in addition, between saviour embryos and proposed therapeutic applications of stem cell technology. The ethical significance of a number of disanalogies between these cases are explored and investigated. While the creation of saviour embryos would involve a significant shift in the rationale for IVF and PGD, it is suggested here that the urgent need of an existing individual should be prioritised over any obligations that might exist in relation to the creation or destruction of human embryos.

Valdez, R; Yoon, PW; Qureshi, N; Green, RF; Khoury, MJ. Family History in Public Health Practice: A Genomic Tool for Disease Prevention and Health Promotion. ANNUAL REVIEW OF PUBLIC HEALTH, VOL 31 31: 69-87 2010.

Family history is a risk factor for many chronic diseases, including cancer, cardiovascular disease, and diabetes. Professional guidelines usually include family history to assess health risk, initiate interventions, and motivate behavioral changes. The advantages of family history over other genomic tools include a lower cost, greater acceptability, and a reflection of shared genetic and environmental factors. However, the utility of family history in public health has been poorly explored. To establish family history as a public health tool, it needs to be evaluated within the ACCE framework (analytical validity; clinical validity; clinical utility; and ethical, legal, and social issues). Currently, private and I public organizations are developing tools to collect standardized family histories of many diseases. Their goal is to create family history tools that have decision support capabilities and are compatible with electronic health records. These advances will help realize the potential of family history as a public health tool.

McBride, CM; Koehly, LM; Sanderson, SC; Kaphingst, KA. The Behavioral Response to Personalized Genetic Information: Will Genetic Risk Profiles Motivate Individuals and Families to Choose More Healthful Behaviors? ANNUAL REVIEW OF PUBLIC HEALTH, VOL

This report describes the use of information emerging from genetic discovery to motivate risk-reducing health behaviors. Most research to date has evaluated the effects of information related to rare genetic variants on screening behaviors, in which genetic risk feedback has been associated consistently with improved screening adherence. The limited research with common genetic variants suggests that genetic information, when based on single-gene variants with low-risk probabilities, has little impact on behavior. The effect on behavioral outcomes of more realistic testing scenarios in which genetic risk is based on numerous genetic variants is largely unexplored. Little attention has been directed to matching genetic information to the literacy levels of target audiences. Another promising area for research is consideration of using genetic information to identify risk shared within kinship networks and to expand the influence of behavior change beyond the individual.

Morris, LA. Life insurance and genetic tests: Risks for insurers and society. HEALTH RISK & SOCIETY 12 (3): 251-270 2010.

The uncertainties surrounding the rapid advances being made in genetic testing and its subsequent use in the life insurance underwriting process has caused much consternation and apprehension throughout society and the insurance industry in recent years. The diagnostic and predictive power of genetic testing has introduced a new variable for insurers to select and classify applicants for life insurance. However, such use by insurers present many complex social, ethical and regulatory questions. This paper explores life insurers’ use of genetic test results and the consequences for insurers should they be denied access to this actuarially relevant material. In addition, the risks posed for society from insurers’ use of this information is analysed from the results of a survey and case study conducted in the Republic of Ireland in 2007. Given that the future use of genetic test results by life insurance companies depends heavily on public acceptance, it is important to understand reactions of the public, in relation to their risk perception and acceptance of this particular commercial use of genetic testing. To conclude, the paper briefly explores general international reaction to the risks posed by the use of genetic test results in underwriting life insurance applicants.

Patrick-Miller, L; Bradbury, AR; Terry, MB. Controversies in Communication of Genetic Screening Results for Cancer: A Report from the American Society of Preventive Oncology’s Screening Special Interest Group (ASPO’s 33rd Annual Meeting, March 8 to 10, 2009, Tampa, Florida). CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION 19 (2): 624-627 FEB 2010

Strange, H. Non-medical sex selection: ethical issues. BRITISH MEDICAL BULLETIN 94 (1): 7-20 JUN 2010

This paper aims to provide a concise review of the ethical issues that are commonly raised in the UK debate on non-medical sex selection. Background information on sex selection technologies is provided, as is a description of the relevant UK legislation. Arguments for and against non-medical sex selection will be explained and compared and conclusions will be drawn. It is finally suggested that the international debate on non-medical sex selection ought to be regarded as an important area of related interest. Data were obtained from a search of existing ethics and policy literature focusing on sex selection. There are very few areas of universal agreement in the debate. There is much disagreement between critics over what harms are likely to be caused by sex selection and whether such harms are morally significant. The issue of whether governments can legitimately place limitations upon individual reproductive autonomy, and if so, to what degree, remains controversial.

Aigner, B; Renner, S; Kessler, B; Klymiuk, N; Kurome, M; Wunsch, A; Wolf, E. Transgenic pigs as models for translational biomedical research. JOURNAL OF MOLECULAR MEDICINE-JMM 88 (7): 653-664 JUL 2010

The translation of novel discoveries from basic research to clinical application is a long, often inefficient, and thus costly process. Accordingly, the process of drug development requires optimization both for economic and for ethical reasons, in order to provide patients with appropriate treatments in a reasonable time frame. Consequently, “Translational Medicine” became a top priority in national and international roadmaps of human health research. Appropriate animal models for the evaluation of efficacy and safety of new drugs or therapeutic concepts are critical for the success of translational research. In this context rodent models are most widely used. At present, transgenic pigs are increasingly being established as large animal models for selected human diseases. The first pig whole genome sequence and many other genomic resources will be available in the near future. Importantly, efficient and precise techniques for the genetic modification of pigs have been established, facilitating the generation of tailored disease models. This article provides an overview of the current techniques for genetic modification of pigs and the transgenic pig models established for neurodegenerative diseases, cardiovascular diseases, cystic fibrosis, and diabetes mellitus.

Kang, H; Veach, PM; LeRoy, BS. Concerns of South Korean Patients and Family Members Affected with Genetic Conditions: A Content Analysis of Internet Website Messages. JOURNAL OF GENETIC COUNSELING 19 (3): 280-295 JUN 2010

The genetic counseling profession is expanding globally, and many countries, such as South Korea, are in the early stages of developing programs to prepare healthcare professionals specifically trained as genetic counselors. However, little research has investigated the concerns of South Korean patients and family members that have genetic conditions. The present study assessed their concerns by accessing and analyzing messages posted to websites devoted to genetic conditions. Eighteen websites were accessed-1 website concerns general genetic conditions, and 17 concern specific conditions. A sample of 700 messages was translated into English and analyzed using grounded theory analysis. Three major themes and 30 categories were extracted. The themes are: 1) Medical Concerns (e.g., clinical symptoms, diagnosis, prognosis, recurrence risk, prevention, inheritance); 2) Psychosocial Concerns (e.g., emotions, social stigma, social support); and 3) Management Concerns (e.g., therapy and alternative treatments, education, financial support, nutrition, medical facilities, folk remedies). The findings provide insight into the types of information and genetic counseling services that might benefit South Korean individuals and family members.

Royal, CD; Novembre, J; Fullerton, SM; Goldstein, DB; Long, JC; Bamshad, MJ; Clark, AG. Inferring Genetic Ancestry: Opportunities, Challenges, and Implications. AMERICAN JOURNAL OF HUMAN GENETICS 86 (5): 661-673 MAY 14 2010

Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of “ancestry” is subject to misunderstanding in both the general and scientific communities. What do we mean by ancestry? How exactly is ancestry measured? How far back can such ancestry be defined and by which genetic tools? How do we validate inferences about ancestry in genetic research? What are the data that demonstrate our ability to do this correctly? What can we say and what can we not say from our research findings and the test results that we generate? This white paper from the American Society of Human Genetics (ASHG) Ancestry and Ancestry Testing Task Force builds upon the 2008 ASHG Ancestry Testing Summary Statement in providing a more in-depth analysis of key scientific and non-scientific aspects of genetic ancestry inference in academia and industry. It culminates with recommendations for advancing the current debate and facilitating the development of scientifically based, ethically sound, and socially attentive guidelines concerning the use of these continually evolving technologies.

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One Comment leave one →
  1. Ingrid permalink
    9 July 2010 11:04

    Sparrow seems to have totally missed the point. Men and Women aren’t ‘normal’ but typical social roles and the biological labels of males and females are similarly typical morphologies but should under no circumstance be considered ‘normal’ as this degrades other forms to ‘abnormal’ (for further details see Anne Fausto-Sterling’s work). Are women really considered better than men? The male dominated profession of philosophers may view this as true but there are still huge gender inequalities in terms of employment, pay and political input. I’d suggest that Sparrow is trying to shoehorn sex selection into the ‘therapy or enhancement’ framework with little regard for the vast academic literature or empirical evidence of actual practice which is out there…but maybe he does make the point that in the case where IVF is offered due to the male partner being infertility sex selection for a XX embryo could be considered a form of genetic therapy as it minimizes the risk of that person inheriting sperm related infertility (not all of DNA related to sperm is on the Y but a fair bit…).

    have fun with the phd Stuart!

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