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Center NewsEric Juengst and Anders Nordgren have published an article in the latest issue of New Genetics and Society, titled "Can genomics tell me who I am? Essentialistic rhetoric in direct-to-consumer DNA testing." "We investigate online direct-to-consumer DNA testing consumer genomics companies through the lens of identity. We find that many of them appeal to a kind of "genetic essentialism". We suggest that this appeal is key to understanding why consumers are attracted to their services. There seem to be three very different currents within contemporary culture at work: the pre-modern search for a naturalistic understanding of identity, the modern enthusiasm for science, and the post-modern emphasis on radical individual self-determination. The support for our hypothesis comes from the companies' websites and the online testimonials of satisfied customers. We discuss the risk of distortion of the subjective experience of identity due to unreliable or uninformative test results, inadequate or misleading explanation, and the fact that the science is still too weak to yield meaningful results."
OpportunitiesCall For AbstractsSecond International Conference of the Tiss.EU project Annual Poster Presentation at PRIM&R’s 2009 Advancing Ethical Research Conference National Coalition for Health Professional Education in Genetics (NCHPEG) makes a call for abstracts for its Annual meeting, Genetics Education for Health Professional: What Are the Key Messages? How Do We Deliver Them? to be held September 23 – 24, 2009 in Bethesda, Maryland. Deadline: June 30, 2009.
Conferences & Meetings
First Annual Consumer Genetics Show Summer Institute in Public Health Genetics: Translating Genomics into Policy and Practice June 22-26, 2009 Seattle, Washington 3th Genetics & Ethics in the 21st Century Conference:Genomics and Personalized Medicine: Facts, Fiction, Future? History of Genetics Conference Biobanking 2009 ASBH Annual Meeting The New Sentinels of Progress: Investigating Emerging Approaches to Governing Technology ResourcesCenters for Excellence in ELSI Research (CEER) Bibliographic database of audiovisuals, books, and articles, many of which are indexed using the Bioethics Thesaurus for Genetics.
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Genetics in the News
Technology Review: TR10: $100 Genome "BioNanomatrix is pursuing what many believe to be the key to personalized medicine: sequencing technology so fast and cheap that an entire human genome can be read in eight hours for $100 or less. With the aid of such a powerful tool, medical treatment could be tailored to a patient's distinct genetic profile. ..."
Genetic testing, DNA, privacy | Salon "Today's simple genetic tests can reveal your private nature. Just don't expect it to stay secret. ..."
deCODE Receives California Clinical Laboratory License " With this license, California residents can now benefit from deCODE products for understanding risk and, working with their physicians, empowering the prevention of common diseases. ..."
Special investigation: How my genome was hacked - life - 25 March 2009 - New Scientist "By taking a glass from which you have drunk, a "genome hacker" could obtain a comprehensive scan of your genome, revealing DNA variants that help determine your susceptibility to a wide range of diseases, from a common form of blindness to Alzheimer's disease. ..."
Time to sequence the 'red and the dead' : Nature News "Schuster suggests that researchers should plan for sequencing "the red and the dead: a suite of carefully chosen endangered and extinct species."..."
A synthetic-biology reality check : Nature News The company started out with a two-pronged strategy: to provide synthetic genes and reagents to order, and to partner with other firms to develop synthetic-biology applications. But having two different balls in play did not work well. ..."
Genome Canada cancels stem-cell project funding : Nature News "The organization decided not to continue its support after an interim review of the project's science, management and budget recommended substantial changes...."
Middle-class pupils have better genes | Education | The Guardian ."Some children are born "not very bright" and education ministers will never be able to change that..."
You Can't Handle the Truth: Do genetic tests need more federal regulation? - Reason Magazine "As one goes through the mass of information—allelic variations linked to various studies of their effects in the peer-reviewed literature—it becomes clear that most of the current genotype information provides little guidance about future health. But does such direct-to-consumer (DTC) genotyping need to be regulated—or banned? ..."
Data 'mishandling' stalls Down's syndrome test : Nature News "Research data supporting a non-invasive prenatal screen for Down's syndrome were "mishandled" and cannot be relied on, according to the biotechnology company that has been developing the test..."
New journal: Philosophy & Theory in Biology (P&TB) "It aims to bring together philosophers of science and theoretically inclined biologists in order to interact across disciplinary boundaries. ..."
In Attics and Closets, 'Biohackers' Discover Their Inner Frankenstein - WSJ.com Using Mail-Order DNA and Iguana Heaters, Hobbyists Brew New Life Forms; Is It Risky? .."
ACLU: Human Gene Patents Infringe Speech | Threat Level | Wired.com "The American Civil Liberties Union is suing the Patent and Trademark Office and a research company awarded exclusive rights to human genes known to detect early signs of breast or ovarian cancer. The group claims the patents violate speech by restricting research..." [Related: ACMG Joins Lawsuit Challenging Patents On Breast Cancer Genes "The American College of Medical Genetics (ACMG) has joined the Association for Molecular Pathology, the College of American Pathologists, and the American Society for Clinical Pathology in a lawsuit filed today charging that patents on the human genes associated with breast and ovarian cancer interfere with diagnostic testing, stifle research and limit women's options regarding their health care. ..." Lawsuit targets validity of human-gene patents : Nature News "In a case that could determine the fate of gene patents, a group of cancer patients, clinicians, researchers and activists have sued the US Patent and Trademark Office and the owners of patents on two genes associated with cancer. ..."]
Oversight of Advanced Diagnostic Tests "Kathleen Sebelius, the Secretary of Health and Human Services, was recently sent an open letter requesting greater oversight of genetic tests ..."
Discovery of DNA variations promises bespoke treatment for disease - Times Online "The first phase of the international 1,000 Genomes Project has identified about 11 million new places where the human genome varies, doubling the tally known to science. Researchers have now begun to sift these variants for links to disease. ..."
Decoding the Use of Gene Patents — The American, A Magazine of Ideas "In good news, the U.S. Patent and Trademark Office has resisted researchers' overreaching in their patenting of genes, and researchers’ work is seldom compromised by patents. ..."
Pathway Genomics - Your Personal DNA Test: Identify Disease Risks, Ancestry, Carrier Status, Drug Response and Traits "The newest entrant in the field of personal genomics has officially gone live. ..."
NEWBORN GENETIC SCREENING: The New Eugenics? "State genetic registries, State warehousing of newborn DNA, and the published concerns of professionals underscore the pressing need for informed parent consent requirements for all facets of newborn genetic screening...."
Knome Introduces Personal Genomics’ First Comprehensive Gene Sequencing Service "Priced at $24,500 for individuals, and $19,500 per person for couples and families, the new service allows consumers to obtain the sequence of their genes and a customized analysis of the results. ..."
Europe calls for earlier genetic tests on children - science-in-society - 31 May 2009 - New Scientist "Now the European Society of Human Genetics is recommending immediate testing of children at increased risk of treatable conditions that appear in childhood, such as Duchenne muscular dystrophy and retinitis pigmentosa. Even if treatment is not an option, testing can be worthwhile as it may forewarn or reassure the family, but the child's interests must come first ..."
For adolescent crime victims, genetic factors play lead role "Genes trump environment as the primary reason that some adolescents are more likely than others to be victimized by crime ..."
New Survey Suggests Modern Humans Originated in Southwest Africa - NYTimes.com "A new genetic survey of people in Africa suggests that the borderland where Angola and Namibia meet seems to be the origin of modern humans...." [Related: Largest-ever study on African genetics revealing origins, migration]
100 reasons to change the way we think about genetics "Article reviews evidence for epigenetic inheritance in wide range of species .."Genetic testing for breast or ovarian cancer risk may be greatly underutilized " Few at-risk women report discussing BRCA1/2 screening with clinician .."
World's largest DNA scan for autism uncovers new gene variant for disorder "A variant is a gene that has undergone subtle changes from the normal DNA yet is shared by a significant portion of the population. ..."
Secret DNA tests outlawed in Germany - science-in-society - 27 May 2009 - New Scientist "The new law allows paternity disputes to be settled using DNA evidence only if all parties consent. ..."
Wrongly accused people could have DNA on database for 12 years - Times Online The DNA profiles of people released without charge or found not guilty by a court could be stored for up to 12 years on a national police database. ..."
OHRP Request for Comment"The Office for Human Research Protections (OHRP) requests public comment about "whether OHRP should pursue a notice of proposed rulemaking (NPRM) to enable OHRP to hold institutional review boards (IRB) and the institutions or organizations operating the IRBs directly accountable for meeting certain regulatory requirements of the Department of Health and Human Services (HHS) regulations for the protection of human subjects." ..."
Genetics in the Literature
(2009). "Genetics: Long-lasting without fasting." Nature 459(7245): 302-302.
"The Centre for Applied Genomics of the Hospital for Sick Children and the University of Toronto hosted the 10th Human Genome Variation (HGV) Meeting in Toronto, Canada, in October 2008, welcoming about 240 registrants from 34 countries. Single nucleotide polymorphisms (SNPs) as well as the larger copy number variants (CNVs) are recognized by ever-improving array and next-generation sequencing technologies, and the data are being incorporated into studies that are increasingly genome-wide as well as global in scope. A greater challenge is to convert data to information, through databases, and to use the information for greater understanding of human variation. In the wake of publications of the first individual genome sequences, an inaugural public forum provided the opportunity to debate whether we are ready for personalized medicine through direct-to-consumer testing. c. ..."
"In the present paper we extend our previous research into parental accounts of childhood genetic testing and explore the ethical accounts of professionals in research interviews. Interviews were conducted with professional practitioners involved in the genetic diagnosis and management of children and their families. While acknowledging ambivalence, our analysis suggests that professional judgement is not a simple matter of implementing ethical principles but rather of managing the practical conditions and consequences of interactions with parents and children. We conclude that more attention is needed to understand the way professional practitioners formulate judgements about ethical practice. ..."
"The impetus for this review is the intriguing realisation that eugenics, viewed as dystopian and authoritarian in most of the 20th century, is in the process of being reinterpreted today 2013 in the context of reproductive genetics 2013 as utopian and liberal. This review offers an analytical framework for mapping the growing literature on this subject in order to provide a summary for both teaching and research in medical sociology. Recent works are subsumed and explored in three areas: historical criticism of the 'old eugenics'; the continuation of this stream in the form of criticism of reprogenetics as a new, 'backdoor' eugenic regime of bio-governmentality 2013 an area which also includes the application of Foucauldian and feminist perspectives; and the recent enthusiasm regarding 'liberal eugenics,' claiming that reprogenetic decisions should be left to individual consumers thus enhancing their options in the health market. The review concludes by discussing and illustrating potential research directions in this field, with a focus on the social and ethical aspects of 'community genetics' and its emerging networks of individuals genetically at risk. ..."
Collier, R. (2009). "Prenatal DNA test raises both hopes and worries." CMAJ 180(7): 705-706.
"Here we describe and assess our use of theatre as a method of public engagement in the development of health policy on preimplantation genetic diagnosis, a controversial method for selecting the genetic characteristics of embryos created through in vitro fertilization. We suggest continued dialogue about the possible uses of theatre in health policy development and conclude that greater clarity is needed with regard to citizens'' (as well as specific stakeholders, policy makers'' and sponsors'') desired outcomes if there is to be a suitably nuanced and reflexive basis for assessing the effectiveness of various strategies for public engagement."
"Here, we investigated the questions raised during the evaluation of biobanks by biomedical Research Ethics Committees (RECs), particularly in the context of genetic research. We sent a questionnaire to all RECs in France to survey their concerns and the ethical criteria used when evaluating research involving the storage of biological samples. Most of the RECs think that they should be consulted to evaluate the constitution of biobanks. The proportion of RECs of this opinion depended on whether the biobank is being constituted in the absence of an associated research project (initially created for clinical purposes or for undefined research) (14/28), whether the biobank is being constituted for research use (21/28) or whether an existing research biobank is being re-used (19/28). Views diverged concerning the way ethics principles are applied, showing that REC evaluations of biobanks might be formalised at each of the following steps: constitution, use and re-use. In this paper, we suggest concrete elements that could be integrated into the application of the new French law concerning the protection of the human beings participating in research as well as into international recommendations. ..."
"This secondary analysis study investigated how BRCA testing impacts family dynamics and relationships. For the secondary analysis, thematic analysis was conducted and revealed three main themes characterizing the effect of BRCA testing on family relationships: 1. That the first in the family to have testing or seek genetic counseling takes on a special family role that can be difficult for them; 2. That discussions in the family often change; and 3. That individuals may feel more or less connected to certain family members. These changes seemed to relate to family cancer history, relationships, coping strategies, communication patterns, and mutation status. Genetic counselors might find it useful to explore these issues in order to prepare clients before BRCA testing and to support them through shifts in family dynamics after disclosure of results. ..."
Dove, A. (2009). "Regulators confront blind spots in research oversight." Nat Med 15(5): 469-469.
Dove, A. (2009). "Coast IRB hits treacherous waters." Nat Med 15(5): 470-470.
Etchegary, H., M. Cappelli, et al. (2009). "Attitude and Knowledge about Genetics and Genetic Testing." Public Health Genomics 19: 19.
"Postal survey administered to 560 women who had been offered prenatal screening in Ontario measured knowledge about, and attitudes toward, genetic testing and the uses of genetic information. Results: Respondents strongly supported the use of genetic information to improve disease diagnosis and to help understand disease causes; however, people also held a more critical attitude towards certain aspects of testing and genetic information. Relatively high levels of knowledge about genetics were also observed in this sample, although there were deficits in specific areas (e.g., transmission patterns). Conclusions: Despite overall positive attitudes towards genetics, participants held more critical attitudes towards certain aspects of testing and the uses of genetic information. It would be unwise for genetics policy-makers and stakeholders to assume that a better-informed public would automatically be more supportive of all genetics research and new genetic discoveries. ..."
"In this paper we used a new methodology derived from different bioinformatic models based on data from genetics, demography and paleoanthropology. The conclusions of this study are consistent with existing paleoanthropological research and show that Neanderthals can be divided into at least three groups: one in western Europe, a second in the Southern area and a third in western Asia. Moreover, it seems from our results that the size of the Neanderthal population was not constant and that some migration occurred among the demes. ..."
"Although knowledge of interindividual and interethnic variation in gene expression is required to set ethnicity-specific reference intervals and to select reference genes and preferred markers from a list of candidate genes, few studies have attempted to characterize such biological variation on a genomewide scale. Methods: The genomewide expression profiles of 11 355 transcripts expressed among 210 multiethnic individuals of the HapMap project were obtained and analyzed; 4 replicates were included for each sample. The total biological CV in gene expression (CVb) was partitioned into interindividual (CVg), inter-ethnic group (CVe), and residual components by random-effects mixed models. Results: CVg was the major component of CVb, and the differences among transcripts were large (up to 38%). Distinct groups of genes were characterized by CV values and expression levels. Of the genes with lowest biological variation (CVb < 1.5%), 35 genes were highly expressed, whereas 32 had intermediate or low expression. Although CVg was almost always greater than CVe, we identified 10 genes in which ethnic variation predominated (range, 8%-18%). On the other hand, 17 annotated genes were highly variable with CVg values ranging between 15% and 38%. Conclusions: Genomewide analysis of gene expression variation demonstrated biological differences among transcripts. Transcripts with the least biological variation are better candidates for reference genes, whereas those with low interindividual variation may be good disease markers. The presence of interethnic variation suggests that ethnicity-specific reference intervals may be necessary. ..."
"If we knew that the naturally-occurring (but theoretical) MoralKinder (MK+) haplotype would predispose individuals to a higher level of morality than average, is it permissible or obligatory to select for the MK+ haplotype? I.e., is it moral to select for morality? This paper explores the various potential issues that could arise from genetic moral enhancement. ..."
"The development of robust and clinically valuable pharmacogenomic tests has been anticipated to be one of the first tangible results of the Human Genome Project. Despite both obvious and unanticipated obstacles, a number of tests have now become available in various practice settings. Lessons can be learned from examination of these tests, the evidence that has catalyzed their use, their value to prescribers, and their merit as tools for personalizing therapeutics. ..."
"Study procedures of existing large-scale biobanks are usually restricted. Considering that the objective of an association study is to establish genotype-phenotype correlations, it is doubtful how easily this could be achieved in the absence of accurate and reliable phenotype description. The use of non-specific or poorly defined phenotypes may partly explain the limited progress so far in glaucoma complex genetics. This report examines the European Glaucoma Society GlaucoGENE project, which is the only large multicentre glaucoma-specific biobank. Unlike previous biorepositories, this initiative focuses on detailed and standardised phenotyping and is expected to become a major resource for future studies on glaucoma. ..."
Geelhoed, E. A., K. Harrison, et al. (2009). "Parental perspective of the benefits of genetic testing in children with congenital deafness." Public Health Genomics. 12(4): 245-50. Epub 2009 Feb 20.
"The aim of the study was to assess the perceived value of genetic testing for congenital deafness in families attending a clinical genetic outpatients department at a children's hospital. The major testing objective was to provide information regarding deafness etiology, although families were advised that changes in treatment as a result of the test were unlikely. Genetic testing for deafness is highly valued by affected families despite the current limited overall expectation of definitive genetic diagnosis or changes in treatment. Parents considered the major benefits to be a better understanding of congenital deafness and the potential for assignment of causality. ..."
Ghosh, D. (2009). "Future perspectives of nutrigenomics foods: benefits vs. risks." Indian J Biochem Biophys. 46(1): 31-6.
"Nutrigenomics, defined as the application of high-throughput genomics tools in nutrition research is now past its incubation phase. The poorly understood associations of diet and disease prevention in particular will likely be the single most important catalyst to its accelerated and continued growth. Whether the goal of matching foods to individual genotypes to improve the health of those individuals can be attained, and personalised nutrigenomic foods enter the world's food markets, depends on numerous hurdles being overcome: some scientific in nature, some' technical and others related to consumer, market or ethical issues. Public adoption of new technologies is an important determinant for their success. Many of the drivers behind the trend in personalisation of food are now known, particularly ethical, legal, and social issues (ELSI) are the major drivers. Future development in the field of nutrigenomics undoubtedly will place its seemingly huge potential in better perspective. From the scientific responsibility point of view, one hopes that the new perspectives to be gained and progress to be made in this field will be so managed as to take the public at large on board, if we are to avoid another nutrition education disaster of the genetically modified organism type and dimension. ..."
"This paper analyzes how ethno-racial standpoints influence the ways that genealogists negotiate and narrate biological and/or social interpretations of family and social history. A constructivist methodological approach grounds the analysis of three family genealogists who all have African and European lineages, but differ in their current ethno-racial identities. These case studies serve as exemplars of how individuals negotiate the racial formation processes of past and present. I suggest that there is reflexive and political potential in bio-based genealogy to transform our current racial “common sense.†The practice of genealogy reveals tacit social and biological assumptions that can serve as points of leverage for progressive social change, and yet vary by standpoint. In the context of the iconic gene we must be vigilant about the threat of genetic essentialism, yet the threat is mitigated by the simultaneous democratization of our knowledge and control over origin stories. ) ..."
"Several clinical guidelines recommend that genetic testing in children be limited to tests with immediate clinical benefit. However, use of genome risk profiling will not likely meet this requirement, as the benefits are anticipated to be years away. Children who are at higher risk, though, will benefit the most from early initiation of treatment or interventions. The shift in benefit from immediate to long-term benefit warrants a reevaluation of the current practices of testing in children. In this commentary, the authors advocate the use of genomic risk profiling to identify children at increased risk who would benefit from early intervention, but recognize that its integration in clinical practice for this population will require a more nuanced approach to delivery and follow-up. In particular, the importance of counseling, context, consent, communication, and follow-up in the delivery of genomic risk testing to children and adolescents is highlighted. ..."
"Through a study of the development of nutrigenomic science and its positioning for use in preventative medicine, I examine the configuration of contemporary “post-genomic†science. I argue that nutrigenomics is not radically new; rather it reinvigorates pre-existing scientific strategies studying gene function and directs them to old scientific puzzles of the complexity of living systems. Nutrigenomics does differ from previous genetic science, for it deals in uncertainty rather than risk and so sees genetic information as a resource the “genetic entrepreneur†can use to create a new, optimally healthy, future, rather than revealing a probable future for which the individual can prepare. However, in this nutrigenomics both reflects and reproduces wider biopolitical notions of health as a state of optimal wellness that individuals will seek, so maximizing their “vital capitalâ€. The issues raised by nutrigenomics are less those of a gene science, and more those of wider bioscience and biomedicine. ..."
"Pharmacogenetic tests allow medications to be tailored to individual patients to improve efficacy and reduce drug toxicity. In 2005, the International Society of Pharmacogenomics (ISP) made recommendations for undergraduate medical teaching in pharmacogenetics. We aimed to establish the quantity and scope of this in British medical schools. An electronic survey was sent to all British medical schools. Nineteen out of 34 (56%) medical schools responded. Sixteen of the 19 (84%) respondents provided pharmacogenetics teaching, usually 1–2 h in total. Only four (21%) medical schools offered the four or more hours of teaching recommended by the ISP. However, 10 of 16 (63%) schools felt the amount of pharmacogenetic teaching offered was sufficient. The quantity of undergraduate teaching of pharmacogenetics is low. However, a majority of UK medical schools teach it, covering a broad scope of elements. It is encouraging that future clinicians are being provided with the knowledge to deliver pharmacogenetics into clinical practice. ..."
Hofmann, B. (2009). "Broadening consent--and diluting ethics?" J Med Ethics. 35(2): 125-9.
"Biobank research is potentially fruitful. It is argued that broad consent is acceptable for future research on biological material because a) the benefit is high, b) it pays respect to people's autonomy, c) it is consistent with current practices and d) because the risk is low. Furthermore, broad consent should be allowed if information is handled safely, people can withdraw and expanded research should be approved by an ethics review board. However, these arguments are flawed and the criteria for broad consent are either too restrictive to allow any research or fail to address important challenges with biobank research. Broad consent for biobank research can hide substantial ethical challenges and threaten trust in research. This does not mean that biobank research should be abandoned or that people cannot authorise future research on donated biological material. ..."
Hoop, J. G., L. W. Roberts, et al. (2009). "Genetic testing of stored biological samples: views of 570 U.S. workers." Genet Test Mol Biomarkers. 13(3): 331-7.
"AIMS: Storing tissue samples for future genetic testing raises practical and ethical issues regarding informed consent and confidentiality. Employed adults' views on this are uniquely valuable but have been little studied. METHODS: This study surveyed 570 employees at a U.S. defense laboratory and an academic medical center regarding their willingness to have tissue stored for future genetic testing, interest in receiving results of future testing and being contacted for consent for future testing, and acceptability of various tissue-storage options. RESULTS: Respondents were somewhat interested in providing samples and significantly less interested in providing traceable samples than untraceable samples. Workers with concerns about having a genetic illness were more interested in providing tissue for future testing. Most participants expressed strong desire to be asked before future genotyping and to receive those test results. Respondents preferred that tissue samples be stored with their doctor, local medical facility, or local research university rather than with their employer, a government agency, or an insurance company. CONCLUSIONS: Employed adults valued future genetic testing as being important to their well-being and strongly preferred reconsenting for future use of stored tissue. These data provide a baseline to measure potential changes in workers' attitudes since the passage of the U.S. Genetic Information Nondiscrimination Act in 2008. ..."
Hutchinson, J. F. and R. Sharp (2009). "Karma, reincarnation, and medicine: Hindu perspectives on biomedical research." Genomic Med 29: 29.
" The goal of the current study is to understand reasons for participating, or not, in genetic research such as the HapMap project and other genetic/medical research from the perspective of the Indian American community in Houston, Texas. In this article, we report on a topic central to this discussion among Indian Americans: karma and reincarnation. Both concepts are important beliefs when considering the body and what should happen to it. Karma and reincarnation are also important considerations in participation in medical and genetic research because, according to karma, what is done to the body can affect future existences and the health of future descendants. Such views of genetic and medical research are culturally mediated. Spiritual beliefs about the body, tissue, and fluids and what happens to them when separated from the body can influence ideas about the utility and acceptability of genetic research and thereby affect the recruitment process. Within this community it is understood that genetic and environmental factors contribute to complex diseases such as diabetes, hypertension, and cancer; and acknowledgment of the significance of environmental stressors in the production of disease. A commitment to service, i.e. "betterment of humanity," karmic beliefs, and targeting environmental stressors could be prominent avenues for public health campaigns in this population. This study suggests that minority status does not automatically indicate unwillingness to participate in genetic or medical research. Indian Americans were not skeptical about the potential benefits of biomedical research in comparison to other ethnic minority communities in the United States. ..."
Isalan, M. and M. Morrison (2009). "This title is false." Nature 458(7241): 969-969.ht."
" This review describes new developments in the study of transgenerational epigenetic inheritance, a component of epigenetics. We start by examining the basic concepts of the field and the mechanisms that underlie epigenetic inheritance. We present a comprehensive review of transgenerational cellular epigenetic inheritance among different taxa in the form of a table, and discuss the data contained therein. The analysis of these data shows that epigenetic inheritance is ubiquitous and suggests lines of research that go beyond present approaches to the subject. We conclude by exploring some of the consequences of epigenetic inheritance for the study of evolution, while also pointing to the importance of recognizing and understanding epigenetic inheritance for practical and theoretical issues in biology. ..."
"Work in the field "omics" (toxicogenomics, proteomics, and metabolomics) has exploded. It is hoped that [`]omics' could be a tool for evaluation of general toxicology, reproductive toxicology, the carcinogenicity potential of pharmaceuticals and several other types of toxicity, eventually replacing the use of animals. Although much progress has been made in the standardization of procedures, challenges remain for evaluation of pharmaceuticals for regulatory purposes, because of off-target toxicologic effects, as well as issues of interpretation and the large number of biologic variables that can affect results. Such variables include species/strain, genetic variations, diet, age, dose, duration, and weight of animals. These variables also confound database compilations of expression profiles. The most promising use in the near future would be to clarify pathways for the various types of toxicity and carcinogenicity and get biomarkers for these pathways, to help assess relevance of nonclinical findings to humans. ..."
"The first part of this review provides an overview and update on neuromuscular gene therapy, including viral delivery principles and historical progress. The second part discusses risk/benefit perception of gene therapy and factors affecting the decision making for patients interested in participating in a trial. Future challenges for gene therapy are targeted high-efficiency delivery, and additional research on developing patient-centered decision support interventions. ..."
Krajewska, A. (2009). "Conceptual quandaries about genetic data--a comparative perspective." Eur J Health Law. 16(1): 7-26.
"Recently, several regulatory initiatives have been taken by the Council of Europe, OECD and national legislators to regulate different aspects of human genetics. However, the latest research findings and the emergence of systems biology call this approach into question as they constitute a substantial change in natural science and philosophy. This article argues that law should take this paradigm shift into consideration and that it is not possible to perceive genetic data as exceptional and suitable for special protection. Instead, norms should be designed around notions such as 'biological' and 'predictive' data. ..."
"Much of the current genetic research into aggressive and violent behavior focuses on young people and might appear to offer the hope of targeted prediction and intervention. In the UK data are collected on children from various agencies and collated to produce “at risk of offending†identities used to justify intervention. Information from behavioral genetic tests could conceivably be included. Regulatory frameworks for collecting, storing and using information from DNA samples differ between the health service and the police particularly in the need for consent and the treatment of children. This paper draws on discussions with professionals involved with “problem†young people to consider their views on the utility of genetic research for tackling violent/aggressive behavior and the impact an identification of genetic susceptibility might have on their clients. ..."
Li-Wan-Po, A., P. Farndon, et al. (2009). "When Is a Genetic Test Suitable for Prime Time? Predicting the Risk of Prostate Cancer as a Case-Example." Public Health Genomics 13: 13.
" Unfortunately, because reported associations are usually weak or moderate, tests based on them are generally not accurate enough for use in routine clinical practice, and therefore, ensuring the appropriate use of genetic tests is important. In a recent report, a combination of 5 SNPs was claimed to improve the predictive value of the test for prostate cancer, compared with the individual SNPs. This led the authors to suggest that a 5-SNP-test could be used to predict the risk of prostate cancer. We evaluate the characteristics of the proposed test, comment on it, and summarize the views of others on its potential clinical utility. We hope that this may serve as a case-example for the evaluation of the many new genetic tests being suggested for adoption. ..."
Maldrup, C. (2009). "Beyond personalized medicine." Personalized Medicine 6(3): 231-233.
"This article focuses on the governance and ethical conduct of research within the domain of social work and social care. Globally, research in this domain appears less well regulated than those in the domains of health care. Within the United Kingdom, the Westminster government is implementing a Research GovernanceFramework for Social Care in England (RGF Social Care). This article locates this development in a broader global context and uses as an example a regionally based implementation to explore some potential issues that arise from the governance and ethical framework in social work and social care. The proposed system is located with English local authorities. Various models are emerging: single department; corporate; dual or multi-council collaborations; cross-sector collaborations. Whatever the merits of the organizational form adopted, the influence of different cultures upon the form of governance and ethical regulation adopted is significant. \..."
McNamee, M. J., A. Muller, et al. (2009). "Genetic testing and sports medicine ethics." Sports Med. 39(5): 339-44.
"Sports medicine ethics is neither a well established branch of sports medicine nor of medical ethics. It is therefore important to raise to more general awareness some of the significant ethical implications of sports medicine practices. The field of genetics in sports is likewise in its infancy and raises significant ethical concerns. It is not yet clear how genetics will alter our understanding of human potential and performance in sports. While a number of professional medical bodies accept genetic interventions of a therapeutic nature, we argue that the use of genetic technologies to predict sports potential may well breach both the European bioethics convention and North American anti-discrimination legislation, which are designed to support important ethical ideals and the ongoing commitment of the physician to the welfare of their patient. We highlight further ethical problems associated with confidentiality and consent that may arise in genetic testing as opposed to more conventional methods of testing in sports medicine. We conclude that genetic testing in sport that is not strictly limited to the protection of the athlete against harm, should be viewed in a very sceptical light by sports medicine professionals. ..."
"This paper analyses how talk between researchers and their volunteer human subjects works to construct a safe and supportive environment in a laboratory setting where women volunteers participate in the development of a new imaging technology with potential for diagnosing breast cancer. Drawing on discourse analysis perspectives, we explore the work talk has to do in order to facilitate the instrumental, ethical and social dimensions of the interaction between researchers, volunteers and technology. An important cross-cutting theme is the use of various discursive strategies by both researchers and volunteers to manage perceptions of risk and construct a safe research environment, which will foster the active cooperation from volunteers necessary to achieve successful research outcomes. We draw attention to the interactive and two-way character of the technology talk observed in our research setting and how it co-produces researchers, volunteer subjects and the technology and supports the working social relationship between them that is vital to success. ..."
Nathan, D. G. and S. H. Orkin (2009). "Musings on genome medicine: cancer genetics and the promise of effective treatment." Genome Med. 1(5): 49.
" Cancer is the most common acquired genetic disease. Great progress has been made in documenting the genetic abnormalities that cause the disease, and in the future each tumor will be subjected to genetic analysis and the appropriate combination of drugs selected. Although there are serious technological and cost hurdles to surmount and resistance and continued mutation will be a constant problem, the way is clear to rational therapy. ..."
Patch, C., J. Sequeiros, et al. (2009). "Direct to consumer genetic tests." Eur J Hum Genet.
"We analyzed the current status (as of the end of August 2008) of human mitochondrial genomes deposited in GenBank, amounting to 5140 complete or coding-region sequences, in order to present an overall picture of the diversity present in the mitochondrial DNA of the global human population. To perform this task, we developed mtDNA-GeneSyn, a computer tool that identifies and exhaustedly classifies the diversity present in large genetic data sets. The diversity observed in the 5140 human mitochondrial genomes was compared with all possible transitions and transversions from the standard human mitochondrial reference genome. This comparison showed that tRNA and rRNA secondary structures have a large effect in limiting the diversity of the human mitochondrial sequences, whereas for the protein-coding genes there is a bias toward less variation at the second codon positions. The analysis of the observed amino acid variations showed a tolerance of variations that convert between the amino acids V, I, A, M, and T. This defines a group of amino acids with similar chemical properties that can interconvert by a single transition. ..."
Phillips, E. and S. Mallal (2009). "Successful translation of pharmacogenetics into the clinic: the abacavir example." Mol Diagn Ther. 13(1): 1-9.
"The abacavir 'example' can be applied to other drugs to facilitate the development and operationalization of genetic tests that may be useful to predict and prevent otherwise unpredictable drug reactions. ..."
"In a large retrospective cohort of breast cancer patients, BRCA1 and BRCA2 germline mutations were analysed in DNA isolated from residual paraffin-embedded tissue samples. Because it was not feasible to ask individual for informed consent, a data and DNA coding protocol, based on the Dutch [`]Code of Conduct', was developed. The corner stone of the protocol is that a trusted third party, in our case a notary, keeps the coding keys of clinical data and DNA. Because (re)linkage of the combined coded clinical and genotyping data (BRCA1/2) is only possible through the notary's keys, these can be considered to be comparable to anonymised data at the level of the researcher. Issues around retrospective genotyping of allegedly high-risk mutations and the coding procedure itself are discussed. Our protocol is an appropriate solution to safeguard the privacy of patients when using residual tissue or DNA of patients. Importantly, the coding procedure also allows re-linkage of new genotyping data or extended patient follow-up data to the valuable coded dataset. ..."
"This paper examines a number of social, ethical and cultural issues related to the application of biotechnology. The focus of the paper relies on two different cases of governing biotechnology in Portugal, referring to donation of biological material: the act of donation of eggs and sperm; and volunteers for donation of DNA material for the forensic national DNA database. We analyze the discourses on donation of biological material framing them in rhetorical devices of gift, altruism, informed consent and social responsibility. This comes blended with still unclear and emergent regulation and policies of access, retention, preservation and governing of biological material and of donors' identification. The risks are mitigated by narratives of science and technology as social progress and providers of public good and health benefits, as well as by underlining the individual responsibility in this domain and by reinforcing the rhetoric of gene quality, based on socio-cultural and bio-genetic criteria. ..."
"Africa is the source of all modern humans, but characterization of genetic variation and of relationships among populations across the continent has been enigmatic. We studied 121 African populations, 4 African American populations, and 60 non-African populations for patterns of variation at 1327 nuclear microsatellite and insertion/deletion markers. We identified 14 ancestral population clusters in Africa that correlate with self-described ethnicity and shared cultural and/or linguistic properties. We observe high levels of mixed ancestry in most populations, reflecting historic migration events across the continent. Our data also provide evidence for shared ancestry among geographically diverse hunter-gatherer populations (Khoesan-speakers and Pygmies). The ancestry of African Americans is predominantly from Niger-Kordofanian (~71%), European (~13%), and other African (~8%) populations, although admixture levels varied considerably among individuals. This study helps tease apart the complex evolutionary history of Africans and African Americans, aiding both anthropological and genetic epidemiologic studies. ..."
"Our study aimed to investigate the attitudes of members of the public recruited through general practices to the donation and storage of blood left over from routine clinical tests in general practice. Methods: A questionnaire was mailed to 2600 individuals randomly selected from two general practice patient lists in Dundee, Scotland. Using a 7-point Likert scale, respondents rated their attitudes toward DNA biobanks in general, and procurement of blood samples specifically. Results: Overall, 841 (34%) of 2471 delivered questionnaires were returned. Compared with patients on the practice lists, respondents were older and more likely to be women. A majority of respondents (61%) were unequivocally positive about storing blood left over from routine tests. Despite general support for this collection method, when asked about open-ended consent, respondents expressed concern about future uses. Respondents' increasing age and level of deprivation had significant adverse effects on attitudes towards making leftover routine biological samples available for research (P = 0.013 and P = 0.034, respectively). The study had three main limitations: there was a low response rate (34%) such that respondents were not entirely respresentative of the survey population; some respondents had difficulty with the questionnaire; and the study was somewhat underpowered for some comparisons. Conclusion: Despite its limitations, this first survey of a general practice population suggests that the majority would be willing to consider giving open-ended consent for the use of blood left over from routine clinical tests in general practice to be stored and used later for medical research. ..."
Wells, A. et al. (2009). "Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents." Genetics in Medicine 11(3): 163-168.
"Purpose: To assess the effectiveness of an educational module as a tool for improving the knowledge of pediatric residents about newborn screening and its expansion in Texas., Methods: The study population consisted of 63 pediatric residents from the University of Texas at Houston, Baylor College of Medicine in Houston, and the University of Texas Medical Branch in Galveston. Residents were invited to participate in the study during daily scheduled didactic lectures in their respective residency programs. Questionnaires were distributed to the residents both before and after the presentation of an educational module about newborn screening in Texas to assess whether knowledge was gained from the presentation., Results: Analysis of questionnaires from the full group of participants showed a substantial increase in knowledge about newborn screening in Texas after the presentation of the educational module. This included a 45.4% increase in knowledge about pre-expansion newborn screening conditions and a 308.4% increase in knowledge about expanded newborn screening conditions (P <= 0.001)., Conclusions: Our results suggest that an educational module about newborn screening like the one we created for this study would be an effective tool for improving the knowledge of pediatric residents on a larger scale., ..."
"This paper discusses how genetics is influencing ethical frameworks with particular focus on the effectiveness and appropriateness of individual and communal models. It suggests that genetics supports a relational understanding of the person and therefore that genetic ethics requires ethical models which respect both individuals and groups. First, the inadequacy of individualistic frameworks – at conceptual, ethical and practical levels – is outlined. Second, the “communal turn†in genetic ethics in both clinical and population ethics is considered. Third, it is claimed that this communal turn is applicable to genetic ethics in general and to illustrate this two further examples are explored: those of UK Biobank and personalized medicine. The paper concludes that ethical frameworks in genetic ethics must accommodate both group and individual concerns. ..."
Wilson, J. M. (2009). "A History Lesson for Stem Cells." Science 324(5928): 727-728.
"Almost a decade has passed since the untimely death of Jesse Gelsinger. The reflections of Dr. Wilson and efforts made on a national scale to address various ethical issues in biomedical research provide an opportunity to consider what progress has been made in efforts to build and restore the public's trust in biomedical research. The restoration of public trust is especially critical in the aftermath of tragic events like Mr. Gelsinger's death and the authors note the need for greater emphasis on building public trust than has occurred to date in the broader biomedical research community. ..."
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