Center NewsRichard Settersten Jr. Jennifer Fishman, Marcie Lambrix, Michael Flatt, and Robert Binstock have published a commentary in the latest issue of the American Journal of Bioethics, titled "The Salience of Language in Probing Public Attitudes about Life Extension." OpportunitiesBrocher Foundation: Call for proposals for visiting researchers in 2011 Topics include: Ethical, Legal & Social Issues recent medical research and new medical technologies, Biobanks, Clinical Trials and Research on Human Subjects, Genetic testing and screening, Nanotechnology, Stem Cells
Call For Abstracts
Conferences & MeetingsInternational Conference on Frontiers in Biological Science "International Conference on Frontiers in Biological Science ..." WCB 2010 "Welcome to the website for the 10th World Congress of Bioethics, Singapore, 28 – 31 July 2010! ..."
The Future of Genomic Medicine III Second Annual Consumer Genetics Conference American Society of Human Genetics (ASHG) 60th Annual Meeting ELSI Congress 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
There may be a 'party' in your genes "Genetics play a pivotal role in shaping how individual's identify with political parties , according to an article in a recent issue of Political Research Quarterly. ..."
Broad Consensus on Gene Synthesis Guidelines » FAS Strategic Security Blog "Participants at a January 11th forum on Minimizing the Risks of Synthetic DNA, held at the AAAS, appeared to be in general agreement on the principles behind proposed US guidelines to safeguard the rapidly advancing technology of gene synthesis. ..."
The Value of Genetic and Genomic Technologies Workshop - Institute of Medicine "A public workshop will be held to examine the perceived value of genetic and genomic technologies, both present and future, in clinical practice from different stakeholder perspectives. This workshop will build on the concepts of clinical utility, personal utility, public utility, and economic value, and explore these different types of value ..."
Population-Based Biobanks and Genetics Research in Connecticut
Genetic research: The fight against disease gets personal - Telegraph "Advances in genetic research mean that cures for killer diseases could soon be tailored to individual patients. ..."
The Human Genome and Patient Privacy: A Proposal to Expand Protections for Patients and Family Members - Published by Student Pulse "Important steps have been taken in the past two years to address the growing concerns over privacy and genetic information. However, more needs to be done in order to protect the rights of patients and their family members. In the following pages, I will assess what is and is not protected under existing laws, and call upon Congress to take further action to ensure that individuals are shielded from unwanted knowledge, abuse, and exploitation caused by release of their genetic information. ..."
Personalized prescription - The Boston Globe "CVS, Medco at vanguard of effort to match patients, drugs by genetic tests ..."
BIONET_Info_Paper2_Biobanking.pdf (application/pdf Object) ..."
deCODE Genetics Rises From the Ashes : ScienceInsider "deCODE genetics, the Icelandic genomics company that declared bankruptcy in November, has made a comeback. Today it reappeared as "the New deCODE," a renamed version of the previous deCODE's core business built on mining the DNA of Iceland's population for disease-causing genes. deCODE's founder, neuroscientist Kari Stefansson, is staying on as co-leader. ..."
Cashing in on your genes - Times Online"Will personal DNA testing soon be big business and will our genetic data be safe? ..."
Genomic and Personalized Medicine Conference in USA http://www.news-medical.net/news/20100113/Genomic-and-Personalized-Medicine-Conference-in-USA.aspx "Elsevier announced today the Genomic and Personalized Medicine Conference in Arlington, VA, USA from May 16-18, 2010, which is, supported by The Lancet and organized in association with the book 'Genomic and Personalized Medicine' (http://www.elsevier.com/wps/find/bookdescription.cws_home/716375/description#description) by Huntington Willard and Geoffrey Ginsburg. The conference will serve the needs of a wide group of stakeholders - practicing physicians, physician-scientists, industry leaders, policy makers, and other health care professionals and trainees at all levels. The conference will embrace one of the most promising avenues for advances in diagnosis, prevention, and treatment of human disease. ..."
Times Online - Eureka Zone - WBLG: The human genome ten years on: time to take stock "The issues raised by the selling of the human genome, though, are only some of those with which society needs to grapple now, before sequencing becomes widespread. ..."
Web DNA Tests Raise Self-Absorption to a New Level - BusinessWeek "In which the writer compares the sometimes scary, sometimes entertaining services of Navigenics, 23andMe and deCODEme ..."
Society for Social Studies of Science"Tokyo 2010! The 35th 4S Annual Meeting will be held jointly with Japanese Society for Science and Technology Studies August 25 – 29, 2010, Komaba I Campus, University of Tokyo Call for Papers: "STS in Global Contexts" Deadline for Submissions of Paper Abstracts and Session Proposals is February 15, 2010 ..."
Why do people 'play the longshot' and buy insurance? It's in our genes "They found that subjects with a high-activity variation of the MAOA gene are characterized by a preference for the longshot lottery and also less insurance purchasing than subjects with the low-activity genetic version. This is the first result to link attitude towards longshot risks to a specific gene. It complements other, recent findings on the neurobiological basis of economic risk taking. ..."
deCODE Scientists Make Big Discovery Amid Bankruptcy - Bankruptcy Beat - WSJ " Amid deCODE genetics Inc.’s bankruptcy, its scientists have discovered that a variant in our genetic code can either be helpful or harmful - depending upon which parent we inherit it from. ..."
BIONET_Final_Report.pdf (application/pdf Object)h "This is the final report of the BIONET project, an inter-disciplinary China-Europe collaboration on the ethical governance of biological and biomedical research consisting of 20 partners from Europe and China. ..."
Genetic tests give consumers hints about disease risk; critics have misgivings - washingtonpost.com "Last fall, Sgt. Timothy Gall, an Army medic stationed at Fort Belvoir, sought clues to the multiple sclerosis and heart disease that ran in his family by looking into his DNA. All it took was some spit and about a thousand bucks. He didn't go to a doctor. Instead, Gall, 30, joined the growing number of consumers ordering scans of their DNA directly from private companies. ..."
PHG Foundation | Regulatory guidance for clinical research and human tissue "The UK Human Tissue Authority (HTA) has recently released new information about consent and the use of DNA via its website. ..."
BioNews - First synthetic biology code of conduct launched "There is a risk that advances in synthetic biology and low-cost DNA sequencing and synthesis could lead to the misuse of genetic technologies for bioterrorism purposes, where sequences of DNA could be ordered from a commercial gene synthesis provider and genetically engineered into a biological warfare agent. ..."
Human Genome Is Part Bornavirus | Wired Science | Wired.com"People may not be quite the humans they think they are. Or so suggests new research showing that the human genome is part bornavirus. ..."
PHG Foundation | Inaccurate media portrayal of PGD for 'minor' genetic disorders "UK media coverage of plans to expand the list of conditions for which pre-natal genetic diagnosis (PGD) is permissible in the UK implies that some of the disorders are not serious. ..."
Governing_Biobank_Intro.pdf (application/pdf Object) "As biobanks flourish across the globe in response to the demands of research and commerce, they do so largely ahead of adequate regulatory frameworks, transcending national borders, pushing the boundaries between public and private enterprise models, pioneering new forms of governance, and embracing the need for public engagement (if not the democratic principles behind it). It is essential that those of us engaged in the ELSI of biobanks keep abreast of these global developments. ..."
Guidelines approved under Section 95AA of the Privacy Act 1988 (Cth) "The Australian National Health and Medical Research Council (NHMRC) and Office of the Privacy Commissioner last month released new guidance for health practitioners on disclosure of genetic information to patients’ relatives. ..."
A New Way to Look for the Genetic Roots of Common Disease - NYTimes.com "The genetic variants found so far account in most cases for a small fraction of the genetic risk of the major killers. So where is the missing heritability and why has it not showed up? A Duke geneticist now suggests that the standard method of gene hunting had a theoretical flaw and should proceed on a different basis. ..."
Myriad Genetics says gene patents beneficial to research - Salt Lake Tribune "Myriad Genetics Inc. has told a federal court that 30 years of experience has shown the U.S. practice of patenting of human genes to private companies has been richly beneficial for research, and it has improved patient access to medical information. ..."
Genes and patents - latimes.com"At stake in a court case is whether any human gene or test based on it can be covered by a patent. ..."
Lawsuit rekindles gene-patent debate : Nature News "Criticism of exclusive licences puts university policies in the spotlight. ..."
The Horse | New Test for Chestnut Coat Color Genes in Horses Available "Chestnut is not considered an acceptable coat color in some breeds of horses. A fast, cost-effective, and reliable method for the routine genotyping of alleles has been developed by Researchers from the Department of Genetics, Physical Anthropology and Animal Physiology at the University of the Basque Country in Bilbao, Spain. ..."
BioNews - deCODE is back "Participants at a January 11th forum on Minimizing the Risks of Synthetic DNA, held at the AAAS, appeared to be in general agreement on the principles behind proposed US guidelines to safeguard the rapidly advancing technology of gene synthesis. ..."
Genetic Tests to Make a Designer Baby – Genes Tests and Babies Genetic Makeup - Popular Mechanics "Increasingly sophisticated genetic tests make it possible for parents to choose their baby’s traits. Here are three ways babies are born to specifications. ..."
wbur.org » News » Is There A Biological Basis For Race?"The 2010 census form has a box to check for race, but what do the categories mean? Some scientists say there’s no biological basis for dividing people into races. Others say race can be an important marker for disease. Ira Flatow and guests look at the science of race. ..."
BioNews - US company offers parents home testing for inheritable genetic diseases "A company in the US is offering potential parents the chance to test whether their future offspring might develop serious health problems by selling them home genetic test kits. ..."
BioNews - Gene patent lawsuit starts next week "A landmark US lawsuit is due to begin this week in New York which will question the right of private companies to hold patents on disease-related genes and their exclusive license rights to be the sole provider of genetic tests for those diseases. ..."
Novel personalized medicine trial launched for metastatic colorectal cancer "Imagine if treatments for disease could be based not on a patient's diagnosis but instead on the characteristics of their tissue. By identifying and decoding the cryptic messages hidden deep inside the human proteome, scientists and physicians who study personalized medicine are seeking more effective treatments and disease management for patients. ..."
Some Social Skills May Be Genetic | Wired Science | Wired.com"Social butterflies who shine at parties may get their edge from special genes that make them experts at recognizing faces. Scientists have found the strongest evidence to date that genes govern how well we keep track of who’s who. ..."
Genetic Study Led by University of Pennsylvania and Cornell Clarifies African and African-American Ancestry: University of Pennsylvania "People who identify as African-American may be as little as 1 percent West African or as much as 99 percent, just one finding of a large-scale, genome-wide study of African and African-American ancestry released today. ..."
Firm Brings Gene Tests to Masses
Genetics in the Literature
"In the framework of the German EU Council Presidency, the Federal Ministry of Health and the Federal Institute for Drugs and Medical Devices, an expert conference on Pharmaceutical Innovation – Possibilities and Limits of Personalised Medicine was held in Bonn, on June 11–12, 2007. It was financially supported by the European Commission. The conference aimed to intensify a sustainable networking among the participants and develop robust concepts for the future design of pharmaceutical research and production within the EU. To this end, various stakeholders from the fields of pharmaceutical research, production and licensing were brought together. This publication summarises the main results of the conference. It may reflect the personal views of the individual contributors and is not necessarily the perspective of the Federal Ministry of Health or of the Federal Institute for Drugs and Medical Devices. ..."
(2009). "Unbottling the genes." Nat Biotech 27(12): 1059-1059.
"The ability to plug and play synthetic genes into minimized genomes promises to transform biological engineering. ..."
"The emergence of synthetic biology, and off-shoots such as DIYbio, make the need for a rigorous, sustained and mature approach for assessing, and preparing for, the broad range of associated dangers and risks all the more pressing. ..."
"<sec> <title>Background</title> <p>The understanding of host genetic variation in disease resistance increasingly requires the use of field data to obtain sufficient numbers of phenotypes. We introduce concepts necessary for a genetic interpretation of field disease data, for diseases caused by microparasites such as bacteria or viruses. Our focus is on variance component estimation and we introduce epidemiological concepts to quantitative genetics.</p> </sec><sec> <title>Methodology/Principal Findings</title> <p>We have derived simple deterministic formulae to predict the impacts of incomplete exposure to infection, or imperfect diagnostic test sensitivity and specificity on heritabilities for disease resistance. We show that these factors all reduce the estimable heritabilities. The impacts of incomplete exposure depend on disease prevalence but are relatively linear with the exposure probability. For prevalences less than 0.5, imperfect diagnostic test sensitivity results in a small underestimation of heritability, whereas imperfect specificity leads to a much greater underestimation, with the impact increasing as prevalence declines. These impacts are reversed for prevalences greater than 0.5. Incomplete data recording in which infected or diseased individuals are not observed, e.g. data recording for too short a period, has impacts analogous to imperfect sensitivity.</p> </sec><sec> <title>Conclusions/Significance</title> <p>These results help to explain the often low disease resistance heritabilities observed under field conditions. They also demonstrate that incomplete exposure to infection, or suboptimal diagnoses, are not fatal flaws for demonstrating host genetic differences in resistance, they merely reduce the power of datasets. Lastly, they provide a tool for inferring the true extent of genetic variation in disease resistance given knowledge of the disease biology.</p> </sec> ..."
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Carlson, R. (2009). "The changing economics of DNA synthesis." Nat Biotech 27(12): 1091-1094.
"How are the economics of synthetic biology likely to develop in the coming years? ..."
Chan, S. (2009). "Should we enhance animals?" Journal of Medical Ethics 35(11): 678-683.h
"Much bioethical discussion has been devoted to the subject of human enhancement through various technological means such as genetic modification. Although many of the same technologies could be, indeed in many cases already have been, applied to non-human animals, there has been very little consideration of the concept of “animal enhancementâ€, at least not in those specific terms. This paper addresses the notion of animal enhancement and the ethical issues surrounding it. A definition of animal enhancement is proposed that provides a framework within which to consider these issues; and it is argued that if human enhancement can be considered to be a moral obligation, so too can animal enhancement. ..."
Condit, C. M. "Public understandings of genetics and health." Clinical Genetics 77(1): 1-9.
"Condit CM. Public understandings of genetics and health. This review of adult public understandings of genetics related to health indicates that the public's understandings overlap with those of professionals in some areas, but not others. Specifically, the majority of the world's people who have been studied understand genetics through the lens of heredity, not in terms of the structural and functional nature of genes. Public understandings of hereditary processes are influenced by models of social relationships and by experiential familiarity with particular conditions as much as by academic research results. Most people hold a fairly strong belief that many health conditions are substantially influenced by both genes and other factors. However, they do not have a stable understanding of the nature of gene2013environment interactions. People in cultures where science is not a prominent cultural mode are even less likely to hold the belief structures of professional geneticists. In some areas2013notably with regard to racialization of genetic medicine and characterizations of genetic variations as 'mutations'2013at least some members of the public strongly reject some geneticists' constructions. Public understanding of details pertinent to genetic testing generally appears to be weak. ..."
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Danielle, E. D., B. M. Leanne Youngs, et al. "The disclosure of genetic information: A human research ethics perspective." Journal of Bioethical Inquiry.
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"Economic evaluation provides health care decision makers with a powerful tool for resource allocation decisions because it offers a framework for comparing the costs and benefits of competing interventions or options. This paper reviews how economic analyses have been applied to the field of pharmacogenomics, both by the pharmaceutical industry to inform investment decisions and by payers to make coverage decisions. There is much anticipation that pharmacogenomic testing is likely to be cost-effective because it uses genomic information to improve drug effectiveness and reduce toxicity both in the drug development process and at the bedside. However, the demonstration of economic benefits first requires that pharmacogenomic testing show evidence of clinical effectiveness. This will only be achieved by greater participation of pharmacogenomics experts in comparative effectiveness research and additional emphasis on including costs in the determination of the relative value of pharmacogenomic testing to the health care system. ..."
"This article reports from a study exploring the social processes, meanings and institutions that frame and produce ethical problems' and clinical dilemmas for practitioners, scientists and others working in the specialty of preimplantation genetic diagnosis (PGD). A major topic in the data was that, in contrast to IVF, the aim of PGD is to transfer to the woman's womb only those embryos likely to be unaffected by serious genetic disorders; that is, to produce healthy babies'. Staff described the complex processes through which embryos in each treatment cycle must meet a double imperative: they must be judged viable by embryologists and unaffected' by geneticists. In this article, we focus on some of the ethical, social and occupational issues for staff ensuing from PGD's double imperative. ..."
Fackler, J. L. and A. L. McGuire (2009). "Paving the Way to Personalized Genomic Medicine: Steps to Successful Implementation." Curr Pharmacogenomics Person Med 7(2): 125-132.
"Over the last decade there has been vast interest in and focus on the implementation of personalized genomic medicine. Although there is general agreement that personalized genomic medicine involves utilizing genome technology to assess individual risk and ensure the delivery of the "right treatment, for the right patient, at the right time," different categories of stakeholders focus on different aspects of personalized genomic medicine and operationalize it in diverse ways. In order to move toward a clearer, more holistic understanding of the concept, this article begins by identifying and defining three major elements of personalized genomic medicine commonly discussed by stakeholders: molecular medicine, pharmacogenomics, and health information technology. The integration of these three elements has the potential to improve health and reduce health care costs, but it also raises many challenges. This article endeavors to address these challenges by identifying five strategic areas that will require significant investment for the successful integration of personalized genomics into clinical care: (1) health technology assessment; (2) health outcomes research; (3) education (of both health professionals and the public); (4) communication among stakeholders; and (5) the development of best practices and guidelines. While different countries and global regions display marked heterogeneity in funding of health care in the form of public, private, or blended payor systems, previous analyses of personalized genomic medicine and attendant technological innovations have been performed without due attention to this complexity. Hence, this article focuses on personalized genomic medicine in the United States as a model case study wherein a significant portion of health care payors represent private, nongovernment resources. Lessons learned from the present analysis of personalized genomic medicine could usefully inform health care systems in other global regions where payment for personalized genomic medicine will be enabled through private or hybrid public-private funding systems. ..."
"Geraedts JPM, De Wert GMWR. Preimplantation genetic diagnosis. Pre-implantation genetic diagnosis (PGD) is generally defined as the testing of pre-implantation stage embryos or oocytes for genetic defects. It has been developed for couples whose potential offspring are at risk of severe Mendelian disorders, structural chromosome abnormalities or mitochondrial disorders. Pre-implantation embryo diagnosis requires in vitro fertilization, embryo biopsy and either using fluorescent in situ hybridization or polymerase chain reaction at the single cell level. Therefore, it is a complex procedure which requires much experience. Aneuploidy screening to improve medically assisted reproduction (in vitro fertilization/intracytoplasmic sperm injection) is a variant type of PGD. The past, present and future of this development are strongly related to the natural occurrence of chromosomal mosaicism in the pre-implantation embryo. PGD should be included in each reproductive health care programme. It is recognized as an important alternative to pre-natal diagnosis. However, diagnosis from a single cell remains a technically challenging procedure, and the risk of misdiagnosis cannot be eliminated. An ethical discussion of the question of whether PGD is acceptable at all2013the 'desirability question'2013is a rearguard action. Discussion must primarily focus on the conditions of exercising due caution in and the dynamics of PGD. ..."
"The last decade has witnessed a steady embrace of genomic and personalized medicine by senior government officials, industry leadership, health care providers, and the public. Genomic medicine, which is the use of information from genomes and their derivatives (RNA, proteins, and metabolites) to guide medical decision making--is a key component of personalized medicine, which is a rapidly advancing field of health care that is informed by each person's unique clinical, genetic, genomic, and environmental information. As medicine begins to embrace genomic tools that enable more precise prediction and treatment disease, which include "whole genome" interrogation of sequence variation, transcription, proteins, and metabolites, the fundamentals of genomic and personalized medicine will require the development, standardization, and integration of several important tools into health systems and clinical workflows. These tools include health risk assessment, family health history, and clinical decision support for complex risk and predictive information. Together with genomic information, these tools will enable a paradigm shift to a comprehensive approach that will identify individual risks and guide clinical management and decision making, all of which form the basis for a more informed and effective approach to patient care. DNA-based risk assessment for common complex disease, molecular signatures for cancer diagnosis and prognosis, and genome-guided therapy and dose selection are just among the few important examples for which genome information has already enabled personalized health care along the continuum from health to disease. In addition, information from individual genomes, which is a fast-moving area of technological development, is spawning a social and information revolution among consumers that will undoubtedly affect health care decision making. Although these and other scientific findings are making their way from the genome to the clinic, the full application of genomic and personalized medicine in health care will require dramatic changes in regulatory and reimbursement policies as well as legislative protections for privacy for system-wide adoption. Thus, there are challenges from both a scientific and a policy perspective to personalized health care; however, they will be confronted and solved with the certainty that the science behind genomic medicine is sound and the practice of medicine that it informs is evidence based. ..."
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"Qualitative interview study. Fifty-nine patients with a family history of cancer who attend a regional cancer genetics clinic in the UK were interviewed about their current and previous research experiences. Interviewees gave a range of explanations for research participation. These were categorised as (a) social—research participation benefits the wider society by progressing science and improving treatment for everyone; (b) familial—research participation may improve healthcare and benefit current or future generations of the participant’s family; and (c) personal—research participation provides therapeutic or non-therapeutic benefits for oneself. We discuss the distinction drawn between motives for research participation focused upon self (personal) and others (familial/social), and observe that personal, social and familial motives can be seen as interdependent. For example, research participation that is undertaken to benefit others, particularly relatives, may also offer a number of personal benefits for self, such as enabling participants to feel that they have discharged their social or familial obligations. We argue for the need to move away from simple, static, individualised notions of research participation to a more complex, dynamic and inherently social account. ..."
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"The May 2009 Human Variome Project (HVP) Forum ldquoTowards Establishing Standardsrdquo was a round table discussion attended by delegates from groups representing international efforts aimed at standardizing several aspects of the HVP: mutation nomenclature, description and annotation, clinical ontology, means to better characterize unclassified variants (UVs), and methods to capture mutations from diagnostic laboratories for broader distribution to the medical genetics research community. Methods for researchers to receive credit for their effort at mutation detection were also discussed. © 2009 Wiley-Liss, Inc. ..."
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"Aim: For certain drugs, pharmacogenetic tests can reduce adverse drug reactions and improve treatment efficacy. However, the adoption of pharmacogenetics into clinical practice has been relatively slow. One potential barrier is the capacity of laboratories to meet the demands of a clinical pharmacogenetic service. We aimed to establish the range, capacity to deliver, and demand for germline pharmacogenetic testing in the United Kingdom and Ireland, through an e-survey of 34 molecular genetics and 28 histocompatibility and immunogenetics (H&I) laboratories. Results: Thirty-five percent of molecular genetics laboratories and 54% of H&I laboratories responded to the survey. The majority of H&I laboratories (93%) offered pharmacogenetic testing, whereas only one molecular genetics laboratory provided a pharmacogenetic service. HLA-B*5701 was most commonly tested to identify those at risk of abacavir hypersensitivity among patients with HIV. A number of barriers to testing were identified, including lack of clinician knowledge and a lack of scientific evidence. All molecular genetics laboratories believed that national coordination of clinical pharmacogenetic services was required, whereas only 50% of H&I laboratories supported this view. Conclusions: In the United Kingdom, pharmacogenetic testing is currently being predominantly provided through H&I laboratories for a limited number of indications. The number of laboratories offering pharmacogenetic tests is increasing and is likely to continue to increase over the coming years. ..."
"<p>International private umbilical cord blood banking has expanded rapidly in recent years since the first cord blood transplant which was 20Â years ago. Private companies offer parents the opportunity to store umbilical cord blood for the possible future use by their child or other family members. The private cord blood industry has been criticised by a number of professional bodies including the EU Ethics Committee, the Royal College of Obstetrics and Gynaecology, the Royal College of Midwives and the US College of Paediatrics. This review presents the arguments from the opponents of private cord blood banking, and then makes the case for private cord banking based on the latest scientific and clinical evidence.</p> ..."
"Moral concerns as to the relationship of synthetic biology with nature do not provide a convincing basis for more stringent regulatory oversight of the field. ..."
"Concerns about privacy may deter people from participating in genetic research. Recruitment and retention of biobank participants requires understanding the nature and magnitude of these concerns. Potential participants in a proposed biobank were asked about their willingness to participate, their privacy concerns, informed consent, and data sharing. A representative survey of 4659 U.S. adults was conducted. Ninety percent of respondents would be concerned about privacy, 56% would be concerned about researchers having their information, and 37% would worry that study data could be used against them. However, 60% would participate in the biobank if asked. Nearly half (48%) would prefer to provide consent once for all research approved by an oversight panel, whereas 42% would prefer to provide consent for each project separately. Although 92% would allow academic researchers to use study data, 80% and 75%, respectively, would grant access to government and industry researchers. Concern about privacy was related to lower willingness to participate only when respondents were told that they would receive $50 for participation and would not receive individual research results back. Among respondents who were told that they would receive $200 or individual research results, privacy concerns were not related to willingness. Survey respondents valued both privacy and participation in biomedical research. Despite pervasive privacy concerns, 60% would participate in a biobank. Assuring research participants that their privacy will be protected to the best of researchers' abilities may increase participants' acceptance of consent for broad research uses of biobank data by a wide range of researchers. ..."
"Advances in the field of human genetics have made it possible to develop specific management and prevention strategies for rare genetic disorders, and tailor pharmacotherapeutic approaches to anticoagulation and certain cancers. The role that genetic variation plays in influencing the risk and outcome of the most common diseases are still unclear. Data from genome-wide association studies is just beginning to answer these questions. We review the role of genome-wide association studies in the quest towards individualized medicine, and examine the promises and challenges that lie ahead. ..."
"Abstract Though the US passed the Genetic Information Non-Discrimination Act, many questions remain of how individuals confronting genetic disease view and experience possible discrimination. We interviewed, for 2 hours each, 64 individuals who had, or were at risk for, Huntington’s Disease, breast cancer, or Alpha-1 antitrypsin deficiency. Discrimination can be implicit, indirect and subtle, rather than explicit, direct and overt; and be hard to prove. Patients may be treated “differently” and unfairly, raising questions of how to define “discrimination”, and “appropriate accommodation”. Patients were often unclear and wary about legislation. Fears and experiences of discrimination can shape testing, treatment, and disclosure. Discrimination can be subjective, and take various forms. Searches for only objective evidence of it may be inherently difficult. Providers need to be aware of, and prepared to address, subtle and indirect discrimination; ambiguities, confusion and potential limitations concerning current legislation; and needs for education about these laws. Policies are needed to prevent discrimination in life, long-term care, and disability insurance, not covered by GINA. ..."
"Purpose: To explore many questions raised by genetics concerning personal identities that have not been fully investigated. Methods: We interviewed in depth, for 2 hours each, 64 individuals who had or were at risk for Huntington disease, breast cancer, or alpha-1 antitrypsin deficiency. Results: These individuals struggled with several difficult issues of identity. They drew on a range of genotypes and phenotypes (e.g., family history alone; mutations, but no symptoms; or symptoms). They often felt that their predicament did not fit preexisting categories well (e.g., "sick," "healthy," "disabled," "predisposed"), due in part to uncertainties involved (e.g., unclear prognoses, since mutations may not produce symptoms). Hence, individuals varied in how much genetics affected their identity, in what ways, and how negatively. Factors emerged related to disease, family history, and other sources of identity. These identities may, in turn, shape disclosure, coping, and other health decisions. Conclusions: Individuals struggle to construct a genetic identity. They view genetic information in highly subjective ways, varying widely in what aspects of genetic information they focus on and how. These data have important implications for education of providers (to assist patients with these issues), patients, and family members; and for research, to understand these issues more fully. (C)2009The American College of Medical Genetics ..."
"Abstract Again and again utopian hopes are connected with the life sciences (no hunger, health for everyone; life without diseases, longevity), but simultaneously serious research shows uncertain, incoherent, and ambivalent results. It is unrealistic to expect that these uncertainties will disappear. We start by providing a not exhaustive list of five different types of uncertainties end-users of nutrigenomics have to cope with without being able to perceive them as risks and to subject them to risk-analysis. First, genes connected with the human body or nutrients can have different functions in interaction with their environment (for instance, one nutrient can be healthy for the heart, but can also be a high risk in relation to cancer). Secondly, uncertainties are formed by risk analyses. Will it be possible to calculate a certain risk of getting a certain condition with a certain lifestyle? Will it be difficult to separate the genetic component and the lifestyle component? How high will these risks be? How will these risks be handled by the actors? In the case of personal genotyping, it is unclear how frequent an adverse polymorphism will occur. Will every individual have a certain vulnerability to a certain disease or will it only be applicable to a small group of the population or particular populations? Thirdly, dietary advices are subject to uncertainties and still to be developed professional standards: some will have adverse outcomes, some will not delay the disease, and some will assume uncertain associations between nutrients, lifestyle, and genetic vulnerabilities. Fourth, with regard to the usefulness of tests it is uncertain to what extent risks indications about obesity and diabetes and other vulnerabilities really influence people to live healthier and therefore will help to prevent these conditions. Fifth, it is uncertain how and what nutrigenomics products will be developed and used. Will it be possible to develop more effectively health improving products? Or is this too difficult and will nutrigenomics continue to be used in not always justified health claims as a commercial and marketing tool? Present-day ethics and theories of responsibilities presuppose that uncertainties will disappear and concentrate on what seems to be fixed and stable in science. We develop provisional thoughts that assume that the dynamic of science to produce uncertainties and dilemmas is endemic, and we stress the need for consumers to institutionalize value searching, exploring, and deliberating devices in the health and food sector to find out the most important uncertainties and correspondingly socially desirable research priorities. ..."
"Predicting individual drug response based on inherited factors remains a major challenge. Some examples of significant contributions of single genetic variants to overall therapeutic success of drugs in complex diseases are currently emerging. For most compounds, however, multiple genetic and nongenetic factors will modify drug action. Comprehensive integration of these factors will determine the role of pharmacogenomics for personalized medicine. ..."
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"In the past few years we have witnessed huge steps forwards in reproductive technology. Specifically genetic diagnosis has created a range of possibilities. This carries along benefits for prenatal care as well as carrying along unprecedented ethical dilemmas that demonstrate some more problematic sides of several basic notions in medical ethics. These new technologies also led to a widespread public ethical debate on the desirability of these technologies. Concerns are felt specifically with the potential eugenic application of these technologies. To have a correct overview of the possibilities to a new eugenics, one needs to explore the actual developments in the field of human genetics in recent years. This is important to avoid deviating from what is actually occurring into the realm of science fiction. ..."
"If we assume that “enhancement†names all efforts to boost human mental and physical capacities beyond the normal upper range found in our species, then enhancement covers such a broad range of interventions that it becomes implausible to think that there is any generic ethical case to be made either for or against it. Michael Sandel has recently made such a generic case, which focuses on the importance of respecting the “giftedness†of human nature. Sandel succeeds in diagnosing an important worry we may have about the use of some enhancements by some parents, but his arguments are better understood as opposing “procrustean parenting†rather than enhancement in general. ..."
"Abstract To make meaning of scientific knowledge in such a way that concepts and values of the life-world are not threatened is difficult for students and laymen. Ethics and morals pertaining to the use of genetic tests for hereditary diseases have been investigated and discussed by educators, anthropologists, medical doctors and philosophers giving, at least in part, diverging results. This study investigates how students explain and understand their argumentation about dilemmas concerning gene testing for the purpose to reduce hereditary diseases. Thirteen students were interviewed about their views on this issue. Qualitative analysis was done primarily by relating students’ argumentation to their movements between ethics and morals as opposing poles. Students used either objective or subjective knowledge but had difficulties to integrate them. They tried to negotiate ethic arguments using utilitarian motives and medical knowledge with sympathy or irrational and personal arguments. They discussed the embryo’s moral status to decide if it was replaceable in a social group or not. The educational implications of the students’ use of knowledge in personal arguments are discussed. ..."
"Objective: The objective is to estimate willingness-to-pay (WTP) for pharmacogenetic testing in the treatment of depression.Methods: In a web-based discrete choice questionnaire, four attributes were included: 1) number of changes in antidepressants before symptom relief; 2) time with dosage adjustments due to adverse side effects and/or lack of effects; 3) cost of pharmacogenetic testing; 4) probability of benefits from pharmacogenetic testing. Respondents were asked to choose between two scenarios; 1) pharmacogenetic testing; and 2) an opt-out option reflecting a scenario without pharmacogenetic testing. The indirect utility model was assumed to be multiplicative in probability of benefits and reduced time with dosage adjustments as well as reduced number of antidepressant changes.Results: Most coefficients had the expected signs and were statistically significant. WTP for avoidance of one change in antidepressant medication is 1571 Danish Krone (DKK), whereas WTP for reducing the period with dosage-adjustments by 1 month is DKK604. Both were statistically significantly different from zero.Conclusion: If diagnosed with depression, peoples' WTP for pharmacogenetic testing appears to exceed its price as long as there is a reasonable probability for improvements in treatment (in the present case 10%). Utility is associated with outcomes only. Hence, other modes of provision of similar improvements in treatment may be valued equally highly. WTP estimates and the associated policy implications appear to be robust because they were unaffected by estimation model. ..."
Macnew, H. G., R. Rudolph, et al. (2009). "Assessing the Knowledge and Attitudes Regarding Genetic Testing for Breast Cancer Risk in our Region of Southeastern Georgia." Breast J.
"Genetic testing for the breast cancer susceptibility genes, BRCA1 and BRCA2, has been available for over a decade. Positive test results carry significant medical, psychological, and social implications. Knowledge of the public's awareness concerning BRCA testing, and perceived benefits and barriers to testing can help refine educational programs and identify subgroups needing additional support. Patients and their acquaintances with a breast complaint attending a surgical clinic or private office were asked to complete a questionnaire about their knowledge of breast cancer genes and their desire to be tested. Demographic information collected included ethnicity, education background, age, income, and personal and family history of breast cancer, knowledge of BRCA genes and testing, and their willingness to participate in genetic counseling. A total of 222 people completed the questionnaire that showed the majority of subjects in southeast Georgia believe breast cancer is inherited 26-50% of the time. Caucasians and those with advanced degrees are the most informed regarding awareness of BRCA genes (p < 0.05); the least informed groups include African Americans and those with no more than a college education. Participants with a family history of breast cancer were significantly more likely to know that genes had been identified that indicate an increased risk of breast cancer (p < 0.05). A history of breast cancer did not impact the degree of awareness (p > 0.05). Subjects aware of genetic testing are more willing to utilize counseling (p < 0.05). Perceptions of breast cancer inheritance, awareness of susceptibility genes, and availability of testing and counseling are not uniform among all population subgroups. In southeast Georgia, educational efforts should focus on the less educated and minority groups. ..."
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Mavilio, F. "Gene therapy: back on track?" EMBO Rep 11(2): 75-75.
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"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. Expected final online publication date for the Annual Review of Public Health Volume 31 is March 17, 2010. Please see http://www.annualreviews.org/catalog/pubdates.aspx for revised estimates. ..."
Meckley, L. M., J. M. Gudgeon, et al. "A policy model to evaluate the benefits, risks and costs of warfarin pharmacogenomic testing." Pharmacoeconomics 28(1): 61-74.
"BACKGROUND: In 2007, the US FDA added information about pharmacogenomics to the warfarin label based on the influence of the CYP2C9 and VKORC1 genes on anticoagulation-related outcomes. Payers will be facing increasing demand for coverage decisions regarding this technology, but the potential clinical and economic impacts of testing are not clear. OBJECTIVE: To develop a policy model to evaluate the potential outcomes of warfarin pharmacogenomic testing based on the most recently available data. METHODS: A decision-analytic Markov model was developed to assess the addition of genetic testing to anticoagulation clinic standard care for a hypothetical cohort of warfarin patients. The model was based on anticoagulation status (international normalized ratio), a common outcome measure in clinical trials that captures both the benefits and risks of warfarin therapy. Initial estimates of testing effects were derived from a recently completed randomized controlled trial (n = 200). Healthcare cost ($US, year 2007 values) and health-state utility data were obtained from the literature. The perspective was that of a US third-party payer. Probabilistic and one-way sensitivity analyses were performed to explore the range of plausible results. RESULTS: The policy model included thromboembolic events (TEs) and bleeding events and was populated by data from the COUMAGEN trial. The rate of bleeding calculated for standard care approximated bleeding rates found in an independent cohort of warfarin patients. According to our model, pharmacogenomic testing provided an absolute reduction in the incidence of bleeds of 0.17%, but an absolute increase in the incidence of TEs of 0.03%. The improvement in QALYs was small, 0.003, with an increase in total cost of $US162 (year 2007 values). The incremental cost-effectiveness ratio (ICER) ranged from testing dominating to standard care dominating, and the ICER was <$US50,000 per QALY in 46% of simulations. Results were most sensitive to the cost of genotyping and the effect of genotyping. CONCLUSION: Our model, based on initial clinical studies to date, suggests that warfarin pharmacogenomic testing may provide a small clinical benefit with significant uncertainty in economic value. Given the uncertainty in the analysis, further updates will be important as additional clinical data become available. ..."
"Expanded newborn screening generates incidental results, notably carrier results. Yet newborn screening programmes typically restrict parental choice regarding receipt of this non-health serving genetic information. Healthcare providers play a key role in educating families or caring for screened infants and have strong beliefs about the management of incidental results. To inform policy on disclosure of infant sickle cell disorder (SCD) carrier results, a mixed-methods study of healthcare providers was conducted in Ontario, Canada, to understand attitudes regarding result management using a cross-sectional survey (N  =  1615) and semistructured interviews (N  =  42). Agreement to reasons favouring disclosure of SCD carrier results was high (65.1%–92.7%) and to reasons opposing disclosure was low (4.1%–18.1%). Genetics professionals expressed less support for arguments favouring disclosure (35.3%–78.8%), and more agreement with arguments opposing disclosure (15.7%–51.9%). A slim majority of genetics professionals (51.9%) agreed that a reason to avoid disclosure was the importance of allowing the child to decide to receive results. Qualitatively, there was a perceived “duty†to disclose, that if the clinician possessed the information, the clinician could not withhold it. While a majority of respondents perceived a duty to disclose the incidental results of newborn screening, the policy implications of these attitudes are not obvious. In particular, policy must balance descriptive ethics (ie, what providers believe) and normative ethics (ie, what duty-based principles oblige), address dissenting opinion and consider the relevance of moral principles grounded in clinical obligations for public health initiatives. ..."
Mok, T., Y. L. Wu, et al. (2009). "A small step towards personalized medicine for non-small cell lung cancer." Discov Med. 8(43): 227-31.
"Treatment outcome for advanced-stage non-small cell lung cancer (NSCLC) is limited by empiric administration of cytotoxic chemotherapy. Recent advances in molecular genomics have revolutionized cancer management and, specifically, epidermal growth factor receptor (EGFR) mutation has become a potent biomarker for lung cancer, which predicts tumor response to and prolonged duration of disease control by EGFR tyrosine kinase inhibitors (TKI). The Iressa Pan-Asia Study (IPASS) is a randomized phase III study comparing gefitinib (EGFR TKI) with paclitaxel/carboplatin (standard chemotherapy) in Asian non-/light smokers with adenocarcinoma. Progression-free survival (PFS) in EGFR mutation-positive patients was longer with gefitinib than with chemotherapy (hazard ratio [HR], 0.48; 95% confidence interval [CI], 0.36-0.64; p<0.0001); in EGFR mutation-negative patients, PFS was longer with chemotherapy than with gefitinib (HR 2.85; 95% CI 2.05-3.98; p<0.0001). The findings are confirmed by one single-arm study and three other randomized studies. It has become clear that personalized medicine for NSCLC is feasible. This small step towards personalized medicine represents a paradigm shift in the management of NSCLC. ..."
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"Recombinant DNA technology was developed in the United States in the early 1970s. Leading scientists held an international Asilomar Conference in 1975 to examine the self regulation of recombinant DNA technology, followed by the U.S. National Institutes of Health drafting the Recombinant DNA Research Guidelines in 1976. The result of this conference significantly affected many nations, including Japan. However, there have been few historical studies on the self-regulation of recombinant technologies conducted by scientists and government officials in Japan. The purpose of this paper is to analyze how the Science Council of Japan, the Ministry of Education, Science adn Culture, and the Science and Technology Agency developed self-regulation policies for recombinant DNA technology in Japan in the 1970s. Groups of molecular biologist and geneticists played a key role in establishing guidelines in cooperation with government officials. Our findings suggest that self-regulation policies on recombinant DNA technology have influenced safety management for the life sciences and establishment of institutions for review in Japan. ..."
"Genetic testing for risk of depression requires a reconsideration of ethical issues in genetics and how they manifest in psychiatric practice. A precautionary approach is advocated in that there should be limits on the use of the 5-HTT genetic test until its clinical utility and broader social impact are better understood. ..."
"The availability of novel technologies, such as tandem-mass-spectrometry (MS/MS) and DNA analysis, has expanded tremendously the number of genetic conditions that can be diagnosed through neonatal screening programs at birth, including conditions that cannot be treated nor prevented, or that will become manifest only later in life, or that identify individuals that are only at an increased risk of multifactorial conditions. This has increased the number and complexity of ethical problems related to newborn screening programs, creating considerable confusion and generating controversies and ethical concerns. The experience so far gained indicates that, besides the incomplete knowledge of many aspects of the conditions to be identified, the majority of screening programs do not pay sufficient attention to the problems of communication, information and counselling of the parents. Therefore, communication must be substantially improved if we wish to increase the efficiency of such programs and avoid possible unwanted side effects. Furthermore, ethical issues should receive more attention and consideration for a better and more complete understanding of the overall impact of neonatal screening programs. This more extensive and ethically correct approach should allow us to find an optimal equilibrium between the potential benefits and the possible damages deriving from neonatal screening programs. ..."
"Background: Adolescence is a time when intense emotions are elicited within the parent2013adolescent relationship, often when autonomy subjectively is endangered. As emotion dysregulation is one of the risk processes for the development of psychopathology, adolescence may be perceived as a highly sensitive period for maladjustment. Inter-individual differences in emotionality and emotion regulation have been shown to be influenced or moderated by molecular genetic differences in the serotonin transporter gene (5-HTT) and by attachment patterns. We investigated whether both the 5-HTT and attachment are associated with emotionality and emotion regulation in an observed adolescent2013mother interaction and the personality traits aggressiveness and anxiety in adolescence.Methods: Ninety-one adolescents at age 12 were observed in interaction with their mothers during a standardized emotion-eliciting social task to assess emotionality and emotion regulation in relation to autonomy. Adolescents' aggressiveness and anxiety were assessed by mother report. Concurrent attachment quality was determined by an attachment interview. DNA samples were collected in order to assess the 5-HTTLPR, a repeat polymorphism in the promoter region of the serotonin transporter gene.Results: While the short allele of the serotonin transporter gene was associated with a higher overall rate of autonomy behaviors, attachment security was related to more agreeable and less hostile autonomy. A significant interaction revealed a moderating effect of attachment security. Carriers of the short version of the 5-HTTLPR showed more agreeable autonomy when they had a secure attachment behavior strategy but showed more hostile autonomy when they were insecurely attached. Carriers of the short version of the 5-HTTLPR and insecurely attached adolescents were rated as more aggressive.Conclusions: The study suggests a gene2013attachment interaction in adolescents where the adolescent's attachment status moderates a genetically based higher negative reactivity in response to threats to autonomy in social interactions. ..."
"ABSTRACT Predictive genetic testing may confront those affected with difficult life situations that they have not experienced before. These life situations may be interpreted as 'absurd'. In this paper we present a case study of a predictive test situation, showing the perspective of a woman going through the process of deciding for or against taking the test, and struggling with feelings of alienation. To interpret her experiences, we refer to the concept of absurdity, developed by the French Philosopher Albert Camus. Camus' writings on absurdity appear to resonate with patients' stories when they talk about their body and experiences of illness. In this paper we draw on Camus' philosophical essay 'The Myth of Sisyphus' (1942), and compare the absurd experiences of Sisyphus with the interviewee's story. This comparison opens up a field of ethical reflection. We demonstrate that Camus' concept of absurdity offers a new and promising approach to understanding the fragility of patients' situations, especially in the field of predictive testing. We show that people affected might find new meaning through narratives that help them to reconstruct the absurd without totally overcoming it. In conclusion, we will draw out some normative consequences of our narrative approach. ..."
"Building upon the work of Thomas Gieryn and Erving Goffman, this paper will explore how the concepts of stigma and boundary work can be usefully applied to history of population science. Having been closely aligned to eugenics in the early 20th century, from the 1930s both demographers and geneticists began to establish a boundary between their own disciplines and eugenic ideology. The eugenics movement responded to this process of stigmatization. Through strategies defined by Goffman as 'disclosure' and 'concealment', stigma was managed, and a limited space for eugenics was retained in science and policy. Yet by the 1960s, a revitalized eugenics movement was bringing leading social and biological scientists together through the study of the genetic demography of characteristics such as intelligence. The success of this programme of 'stigma transformation' resulted from its ability to allow geneticists and demographers to conceive of eugenic improvement in ways that seemed consistent with the ideals of individuality, diversity and liberty. In doing so, it provided them with an alternative, and a challenge, to more radical and controversial programmes to realize an optimal genotype and population. The processes of stigma attribution and management are, however, ongoing, and since the rise of the nature-nurture controversy in the 1970s, the use of eugenics as a 'stigma symbol' has prevailed. ..."
"The cancer field is poised to thrive under ARRA, but support for diagnostic firms that could further the goal of personalizing cancer therapeutics has been less forthcoming. ..."
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"In the contemporary world, "race" narratives are so multifaceted that at times, different views of the concept appear mutually incompatible. In recent decades biologists, especially geneticists, have repeatedly stated that the notion of race does not apply to the human species. On the other hand, social scientists claim that race is highly significant in cultural, historical, and socioeconomic terms because it molds everyday social relations and because it is a powerful motivator for social and political movements based on race differences. In this paper we present the results of an interdisciplinary research project incorporating approaches from genetics and anthropology. Our objective is to explore the interface between information about biology/genetics and perceptions about colon race in Rio de Janeiro, Brazil. We argue that the data and interpretation of our research resonate far beyond the local level, stimulating discussion about methodological, theoretical, and political issues of wider national and international relevance. Topics addressed include the complex terminology of color/race classification in Brazil, perceptions about ancestry in the context of ideologies of Brazilian national identity, and the relationship between genetic information about the Brazilian population and a sociopolitical agenda that turns on questions of race and racism. ..."
Seibert, D. (2007). "Newborn screening. As testing choices expand, so must your knowledge." Adv Nurse Pract 15(4): 55-6, 58-9, 102.
"The recent emphasis on 'meaningful use' of electronic health records in health information technology reforms (e.g., as in the US stimulus package) can leverage the pharmacogenomics field. In order for clinical trials outcomes, based on pharmacogenomics research, to be meaningfully and effectively used in clinical practice there is a need to make health semantics explicit. Often, semantics is merely implicit in both the research and practice worlds and is buried in unstructured and disconnected descriptions of the data or just in the heads of human experts. Meaningful semantics includes rich metadata, but more importantly, the context of each discrete data item and how it relates to other data items in a specific dataset, as well as how it fits within the entire health record of an individual and how it references up-to-date clinical knowledge. Properly-built electronic health records systems based on standards could provide meaningful semantics on the healthcare side, while the fields of research and clinical trials need to come closer to healthcare in its data and knowledge representations in a way that lends itself to personalized medicine. The purpose of this review is to explore how evidence created by pharmacogenomics can be meaningfully delivered to healthcare through new approaches, such as electronic health records systems and information models. ..."
Simopoulos, A. P. "Nutrigenetics/Nutrigenomics." Annual Review of Public Health 31(1).
"All diseases have a genetic predisposition. Genome-wide association studies (GWASs) by large international consortia are discovering genetic variants that contribute to complex diseases. However, nutrient information is missing, which is essential for the development of dietary advice for prevention and management of disease. Nutrigenetics/nutrigenomics studies provide data on mechanisms of nutrient and gene interactions in health and disease needed for personalized nutrition. A process will be needed to define when gene-nutrient-disease associations are ready to be evaluated as potential tools to improve public health. Expected final online publication date for the Annual Review of Public Health Volume 31 is March 17, 2010. Please see http://www.annualreviews.org/catalog/pubdates.aspx for revised estimates. ..."
Son, J. and J. Wilson "GENETIC VARIATION IN VOLUNTEERISM." Sociological Quarterly 51(1): 46-64.
"Some argue that genetic enhancements and environmental enhancements are not importantly different: environmental enhancements such as private schools and chess lessons are simply the old-school way to have a designer baby. I argue that there is an important distinction between the two practices—a distinction that makes state restrictions on genetic enhancements more justifiable than state restrictions on environmental enhancements. The difference is that parents have no settled expectations about genetic enhancements. ..."
"Imaging genetics has emerged as a powerful and sensitive approach to the study of functional genetic variations and brain responses in psychiatric and neurologic disorders. Ethics issues in contemporary neuroscience as they apply separately to genetics and neuroimaging have been a growing focus for research but, to date, there has not yet been a rigorous exploration of the ethical dimensions of the territory in which they overlap. Here we propose that the ethics challenges associated with the combination of these methods call for an expanded "neuro-space" in which societal and ethical values are closely and explicitly integrated with the new science. We build specifically on the model delivered by Roffman et al. [Roffman JL, Weiss AP, Goff DC, Rauch SL, Weinberger DR (2006) Neuroimaging-genetic paradigms: a new approach to investigate the pathophysiology and treatment of cognitive deficits in schizophrenia. Harv Rev Psychiatry 14:78-91] for neuroimaging, and develop the argument that the ethics issues parallel the heightened discriminative and cumulative power of imaging genetics. In the new combined space, features of discriminative power concern better differentiation of disease, sometimes by ethnicity, and incidental findings. Clinical utility, prediction and intervention, and stigma and labeling reflect a common ground between discriminative and cumulative power. Privacy, autonomy, response sensitivity and attitudes, resource allocation for research and for health care, and commercialization, are features of cumulative power. Parallel to the clinical features highlighted in the Roffman et al. map, the combined space yields additional neuroethics features. These are characterized by new knowledge and new implications for health care, justice, and policy. We conclude by examining these features in the context of public health at the interface of emerging new neurotechnologies. ..."
"A genetic marker known as apolipoprotein E provides a clear signal of a person's risk of developing Alzheimer's disease and thus that person's future need for long-term care. People who find that they have the variant of the trait that increases Alzheimer's disease risk are more likely to purchase long-term care insurance after receiving this information. If the information is widely introduced into the insurance market, coverage rates could be affected in different ways, depending on who possesses that information. Policymakers will eventually need to confront the issue of the use of this and other markers in the pricing of long-term care insurance. ..."
"BACKGROUND/AIMS: Genetic research is used to identify the relative contributions made by inherent abilities (nature) versus environmental effects (nurture) in human performance. The same approach allows a better understanding of how injuries or illnesses can result from sport or physical activity. Having identified the genes involved in athletic performance, there are the intriguing possibilities of using this information for talent search, developing individualized training programs and prevention of sports-related injuries. METHODS: There are many interacting genes involved in athletic performance. This class of genes is often described as 'complex' and the mode of inheritance is called 'multifactorial'. Discovery of these genes is difficult using the conventional case control (association) studies. Recent genomic-based developments allowing high throughput SNP analysis are very promising. Potentially more exciting is the availability in the near future of cheaper and faster whole-genome sequencing technologies. RESULTS: Genetic research in exercise science has produced a lot of data including the ability to draw a human exercise gene map. However, progress at the genetic level has been slow because gene-based association studies are not powerful enough to detect multiple small but cumulative gene effects. In future, the more efficient genomic-based research approaches will accelerate the finding of 'sports genes'. Data generated will be enormous, making it essential to have a direct link between the laboratory researcher and bioinformatics expertise. CONCLUSION: Genetics research has moved to the genomics era, i.e. the simultaneous testing of multiple genes is now possible. ..."
Trent, R. J. A. "Pathology practice and pharmacogenomics." Pharmacogenomics 11(1): 105-111.
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"The 1000 Genomes Project, an international collaboration, is sequencing the whole genome of approximately 2,000 individuals from different worldwide populations. The central goal of this project is to describe most of the genetic variation that occurs at a population frequency greater than 1%. The results of this project will allow scientists to identify genetic variation at an unprecedented degree of resolution and will also help improve the imputation methods for determining unobserved genetic variants that are not represented on current genotyping arrays. By identifying novel or rare functional genetic variants, researchers will be able to pinpoint disease-causing genes in genomic regions initially identified by association studies. This level of detailed sequence information will also improve our knowledge of the evolutionary processes and the genomic patterns that have shaped the human species as we know it today. The new data will also lay the foundation for future clinical applications, such as prediction of disease susceptibility and drug response. However, the forthcoming availability of whole genome sequences at affordable prices will raise ethical concerns and pose potential threats to individual privacy. Nevertheless, we believe that these potential risks are outweighed by the benefits in terms of diagnosis and research, so long as rigorous safeguards are kept in place through legislation that prevents discrimination on the basis of the results of genetic testing. ..."
"van der Vorm A, van der Laan AL, Borm G, Vernooij-Dassen M, Rikkert MO, van Leeuwen E, Dekkers W. Experts' opinions on ethical issues of genetic research into Alzheimer's disease: results of a Delphi study in the Netherlands. Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in two rounds was held to identify differences between groups of experts (i.e. clinicians, representatives of patient organisations, ethicists and persons with a commercial background). The strongest correlation was found between the opinions of ethicists and representatives of patient organisations (0.67) and between clinicians and ethicists (0.62). Moderate correlation (0.55) was found between the opinions of clinicians and representatives of patient organisations. Persons with a commercial background showed a weak correlation with clinicians (0.41), ethicists (0.35) and representatives of patient organisations (0.30). These differences in rating of morally relevant issues between various professional groups are relevant for clinical practice and dementia care, particularly the different rating of prenatal diagnosis found between clinicians and representatives of patient organisations. Interdisciplinary consultations between various professional groups 2013including at least researchers, clinicians and ethicists 2013are recommended to guarantee that all considerations will be incorporated into the debate on ethical issues of genetic research into AD. ..."
"This paper considers the legal position of genetic test results in insurance law in England and Wales. The strict position is that this information is material to the decision of the insurer to offer insurance cover and should be disclosed by insurance applicants. However, the British Government and the Association of British Insurers have agreed to a moratorium on the use of genetic test results in insurance, which will run until 2014. The moratorium prohibits unfavourable treatment of insurance clients on their basis of their genetics, unless it can be justified. In this paper, I consider the notion of genetic discrimination and ask whether it is possible to justify the concept in such a way that its existence should be accepted. The paper suggests that the insurance industry and the general public have different viewpoints on the concept of discrimination, and that this causes much of the disagreement over the issue of using genetic test results in insurance. ..."
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"Epidemiological and family studies suggest that lung cancer results from the combined effects of age, smoking and genetic factors. Chronic obstructive pulmonary disease (COPD) is also an independent risk factor for lung cancer and coexists in 40–60% of lung cancer cases. In a two-stage case–control association study, genetic markers associated with either susceptibility or protection against lung cancer were identified. In a test cohort of 439 Caucasian smokers or ex-smokers, consisting of healthy smokers and lung cancer cases, 157 candidate single nucleotide polymorphisms (SNPs) were screened. From this, 30 SNPs were identified, the genotypes (codominant or recessive model) of which were associated with either the healthy smokers (protective) or lung cancer (susceptibility) phenotype. After genotyping of this 30-SNP panel in a second validation cohort of 491 subjects and using the same protective and susceptibility genotypes from our test cohort, a 20-SNP panel was selected on the basis of independent univariate analyses. Using multivariate logistic regression, including the 20 SNPs, it was also found that age, history of COPD, family history of lung cancer and gender were significantly and independently associated with lung cancer. When numeric scores were assigned to both the SNP and demographic data, and sequentially combined by a simple algorithm in a risk model, the composite score was found to be linearly related to lung cancer risk with a bimodal distribution. Genetic data may therefore be combined with other risk variables from smokers or ex-smokers to identify individuals who are most susceptible to developing lung cancer. ..."
"Abstract Debates on the role of biotechnology in food production are beset with notorious ambiguities. This already applies to the term “biotechnology” itself. Does it refer to the use and modification of living organisms in general, or rather to a specific set of technologies developed quite recently in the form of bioengineering and genetic modification? No less ambiguous are discussions concerning the question to what extent biotechnology must be regarded as “unnatural.” In this article it will be argued that, in order to disentangle some of the ambiguities involved, we have to broaden the temporal horizon of the debate. Ideas about biotechniques and naturalness have evolved in various socio-historical contexts and their historical origins will determine to a considerable extent their actual meaning and use in contemporary deliberations. For this purpose, a comprehensive timetable is developed, beginning with the Neolithic revolution ~10,000 years ago (resulting in the emergence of agriculture and the Common Human Pattern) up to the biotech revolution as it has evolved from the 1970s onwards—sometimes referred to as a second “Genesis.” The concept of nature that emerged in the context of the “Common Human Pattern” differs considerably from traditional philosophical concepts of nature (such as coined by Aristotle), as well as from the scientific view of nature conveyed by the contemporary life sciences. A clarification of these different historical backdrops will allow us to understand and elucidate the conceptual ambiguities that are at work in contemporary debates on biotechnology and the place of human beings in nature. ..."
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