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Background: Methods for combining cloning techniques with genetic engineering techniques (gene manipulation) are currently being developed in order to enhance predetermined biological or mental characteristics. Admissibility of conducting research on human embryos is justified by the fact that it will help to improve the human species and free it from serious diseases. However, two competing rights stand in the way of legality of this practice. On the one hand, the right of a human embryo to development and life. On the other hand, the right of mankind to use all scientific means to fight more effectively against diseases and to receive organs and tissues for transplantation to improve the quality of life. Some researchers believe that human life, if regarded as a moral value, cannot be absolute. Aims and Objectives: This paper examines the relevant legislation on both international and national levels and the Spanish doctrine in terms of defining acts against genetics and evaluating effectiveness to criminalize them in order to ensure the balance between medical ethics and community best interests. Materials and Methods: This study is a description paper on gene-manipulation regulation in Spain, the EU and worldwide. It is based primarily on genetic, systematic-functional and systematization methods with regard to special legal ones. Results and Conclusion: There is a wide of international, supranational and national acts that governs gene manipulation and secures society from illegal actions. Still, there are vague issues to revise either by enacting amendments or referencing to doctrine. The perfect way to ensure community interests is to elaborate both. [ABSTRACT FROM AUTHOR]

This article presents preliminary results of an exploratory study on pre-implantation genetic diagnosis (PGD) in Buenos Aires, Argentina. PGD is a testing technique that allows to know aspects of the genetic constitution of the embryo before its implantation in the uterus, using assisted reproductive technologies (ARTs). PGD has been the object of intense ethical controversy worldwide. Taking as a starting point the unexplored character of such controversy in the Global South, the article seeks to understand how ethics is dealt with in the Argentine PGD clinic. A central question the article tries to answer is: what is ethics in the context of Argentine PGD? And how is such ethics practiced? Data was taken from seven in-depth interviews with fertility practitioners in charge of providing PGD. Two areas of problematization are discussed in relation with the performance of PGD, one being uncertainty and the other medical authority and disciplinary boundaries. Based on these analyses, the article argues that the handling of ethics in the fertility clinic should be understood as a dynamic, constructive and open-ended process rather than as the implementation of previously formatted, a priori and transcendental bioethical principles. [ABSTRACT FROM AUTHOR]

The article focuses on the gene-editing technology called Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR). Topics discussed include the potential benefits of CRISPR, the current scientific and ethical discussions going on regarding the technology, and a new legislation that could be passed by Congress to help facilitate further research involving CRISPR.

BACKGROUND: The field of genetics and genomics is rapidly expanding, particularly in oncology. Genetics and genomics can lead to ethical concerns. Oncology nurses must balance the need for evidence-based oncology care with that of ethical care for patients and their family members. OBJECTIVES:The purpose of this article is to provide an overview of cancer genetics and ethics and their impact on oncology nurses, patients, and families. METHODS: A case study of familial adenomatous polyposis (FAP) is offered to illustrate the impact of a hereditary cancer syndrome on several generations of a family and ethical issues surrounding cancer genetics. In addition, a brief review of FAP, gene and tissue biobanking, and genome editing is provided. FINDINGS: Genetics, genomics, and pharmacogenomics are ubiquitous in cancer diagnosis and management. Nurses must be knowledgeable about the ethical issues related to cancer genetics and oncology care to advocate for the needs of patients with cancer. Communication with and education of patients and their families before germline genetic testing may reduce the emergence of ethical dilemmas. [ABSTRACT FROM AUTHOR]

The theme of the free availability of genetic information is, by its nature, the heart of attention in most areas of investigation. From biology to medicine, from philosophy to law, from theology to biotechnology there isn’t an area of science that cannot be said to be interested in the subject, nor has not, in recent years, tried to deepen it. [ABSTRACT FROM PUBLISHER]

The biotechnological developments of today have caused extremely important issues about ethics and human rights to be addressed in the field of healthcare while accelerating discussions on issues such as the disclosure, confidentiality, and sharing of genetic information. Genetic information, aside from contributing to scientific advances, contains numerous threats to economic, social, and work life. In this process, one of the most important issues coming to the fore has been genetic discrimination in working life, along with the widespread use and acceptance of genetic tests in the society. While certain genetic features are primarily linked to racial and ethnic groups, "genetic requirements" have emerged as an objective criterion in discrimination at the workplace. One branch of the genetic tests applied to the workplace constitutes professional diseases and occupational health issues. However, the issue of whether employers imply the tests are necessary because of business is a subject open to debate. The purposes of this study are to establish a descriptive framework of genetic discrimination within the scope of gene, ethics, human rights, and work life, to create awareness in the context of genetic discrimination practices and their legal dimension, and to develop a model of proactive measures against genetic discrimination as a type of discrimination that may come to the fore in Turkey along with the widespread use of cheap and accessible genetic tests. [ABSTRACT FROM AUTHOR]

The article discusses the Academy of Science of South Africa's (ASSAf) study about the ethical, legal and social implications (ELSI) of human genetics and genomics work in the country. Topics discussed include the thematic areas of the study such as building relationships, respect for persons and good stewardship, the recommendations to develop human capacity and material resources, and the call for the appropriate training of healthcare professionals in genetics and genomics.

Aim: The purpose of this integrative review is to critically analyze the research literature regarding ethical principles that surround the integration of genetics and genomics in primary care clinical practice. Background: Advanced practice nurses (APRNs) play an important role in the provision of primary care services, in the areas of obstetrics, pediatrics, family practice, and internal medicine. Advances in genetic and genomic science are infiltrating these day-to-day healthcare systems and becoming an integral part of health-care delivery. It is imperative for primary care providers to understand the ethical, legal, and social implications of genetics and genomics. Methods: A comprehensive multistep search of CINAHL, MEDLINE, Academic Search Premier, PsycINFO, Web of Science, and Scopus databases was conducted to identify primary research articles published from 2003 to 2015 that evaluated ethical issues related to genetics and genomics in U.S. primary care practice. A sample of 26 primary research articles met the inclusion criteria. Whittemore and Knafl’s (2005) revised framework for integrative reviews was used to guide the analysis and assess the quality of the studies. Key findings from the studies are discussed according to Beauchamp and Childress’s (2009) ethical principles of autonomy, beneficence, nonmaleficence, and justice. Results: Research conducted to date is mainly qualitative and descriptive and the analysis revealed several ethical challenges to implementing genetics and genomics in primary care settings. Conclusion: The review suggests that there are several implications for research, education, and the development of primary care practice that support APRNs delivering genetic and genomic care while incorporating knowledge of ethical principles. More research needs to be conducted that evaluates the actual genetic/genomic ethical issues encountered by primary care providers. [ABSTRACT FROM AUTHOR]

Two genetic technologies capable of making heritable changes to the human genome have revived interest in, and in some quarters a very familiar panic concerning, so-called germline interventions. These technologies are: most recently the use of CRISPR/Cas9 to edit genes in non-viable IVF zygotes and Mitochondrial Replacement Therapy (MRT) the use of which was approved in principle in a landmark vote earlier this year by the United Kingdom Parliament. The possibility of using either of these techniques in humans has encountered the most violent hostility and suspicion. However it is important to be aware that much of this hostility dates back to the fears associated with In Vitro Fertilization (IVF) and other reproductive technologies and by cloning; fears which were baseless at the time concerning both IVF and cloning the use of both of which have proved to be highly beneficial to humanity and which have been effectively regulated and controlled. This paper argues that CRISPR should by pursued through researh until it is safe enough for use in humans but there is no reason to suppose at this stage that such use will be unsafe or unethical (Collins 2015). [ABSTRACT FROM AUTHOR]

Over the past two decades, advances in genetic technologies have posed unexpected challenges to the ethical and legal framework guiding the application of the most recent advances in healthcare technologies. By and large, these challenges have been successfully met by the introduction by statutes such as the Genetic Information Nondiscrimination Act (GINA). However, over the past several years, these advances in the ability to measure genetic (or heritable) contributions to medical illness have been joined by advances in epigenetic (or acquired) contributions to common medical illnesses. Unfortunately, the moral and legal framework for the use of these epigenetic technologies, which can objectively determine the presence of medical illnesses such as diabetes or the consumption of substances of abuse, is not as well developed. This communication provides an introduction to the fundamentals of epigenetics and then reviews how some of the latest advances in this technology can now be used to assess the consumption of alcohol and tobacco. Next, the possible mechanisms through which these tools could be employed clinically are discussed. Finally, the authors outline the potential for misuse of this technology and suggest that well-informed policy could play a critical role in shaping the optimal implementation of epigenetic technologies. [ABSTRACT FROM AUTHOR]

This article explores the way the distinction between enhancement and therapy has been used in Catholic bioethics to assess the moral character of technologies that developments in genetics and neuroscience have made possible. The purpose of drawing lines between therapy and enhancement is typically to claim that the former is always ethically justified and the latter is morally suspect, if not altogether impermissible. The author connects the enhancement versus therapy distinction to concepts of human nature that ground it and examines the function of the distinction in these theological anthropologies. She argues that the distinction is insufficient for making decisions regarding use of neurotechnologies. Catholic ethicists thus need to explore alternative methods to begin the essential project of developing neuroethics. [ABSTRACT FROM AUTHOR]

While bioethics as a field has concerned itself with methodological issues since the early years, there has been no systematic examination of how ethics is incorporated into research on the Ethical, Legal and Social Implications ( ELSI) of the Human Genome Project. Yet ELSI research may bear a particular burden of investigating and substantiating its methods given public funding, an explicitly cross-disciplinary approach, and the perceived significance of adequate responsiveness to advances in genomics. We undertook a qualitative content analysis of a sample of ELSI publications appearing between 2003 and 2008 with the aim of better understanding the methods, aims, and approaches to ethics that ELSI researchers employ. We found that the aims of ethics within ELSI are largely prescriptive and address multiple groups. We also found that the bioethics methods used in the ELSI literature are both diverse between publications and multiple within publications, but are usually not themselves discussed or employed as suggested by bioethics method proponents. Ethics in ELSI is also sometimes undistinguished from related inquiries (such as social, legal, or political investigations). [ABSTRACT FROM AUTHOR]

Whether researchers have an obligation to disclose secondary genetic research findings, and, if so, in what circumstances, remains a matter of heated debate. This paper suggests that much of this confusion is definitional or conceptual in nature. That is, there is significant variability in the way that threshold terms and concepts such as 'incidental,' 'analytic validity,' 'clinical validity,' 'clinical relevance,' 'clinical utility,' 'clinical significance,' and 'actionability,' are used in the literature, which is impeding efforts to clarify the scope of an obligation to return findings. This paper analyzes the definitional muddle underlying the debate about returning genetic research findings, first, to explain the range of definitions being used in this debate. We go on to propose that, underlying all the seeming confusion and disagreement, three central and widely agreed upon concepts are at work in this debate - validity, value, and volition. Refocusing attention on these core concepts, and their appropriate conceptualizations, can produce a more productive debate regarding the return of genetic research findings. [ABSTRACT FROM AUTHOR]

Genetic technology is recent in human history and its scopes and consequences cannot be foreseen either with certainty or scientific evidence. However, current human ability to do practically everything through biomedical experimentation raises a huge responsibility in legal terms: to identify new kinds of harms in reparation (for instance, genetic harm), which were never recognized by traditional positive law since when this was conceived, genetic techniques did not exist. This paper defines genetic harm as a new category of harm integrated into the intangible reparative item of health harm (with the purpose of including it into the Colombian legal order), points out key doctrinarian elements for it to be understood, and explores its epistemological and methodological relationships to biolaw, whose doctrine has been recently created at Georgetown University by one of this paper's authors. [ABSTRACT FROM AUTHOR]

The article discusses a child's right to know in regards to genetic testing, genome sequencing, and the genetic risks associated with various adult-onset diseases as of March 2014. According to the article, the apparently rapid development of next generation sequencing technologies such as high-throughput and massively parallel DNA sequencing technologies has reduced both the cost and the time required to sequence an entire human genome. Diagnoses of cystic fibrosis and depression are assessed.

The article discusses the reported recognition of a right not to know in regards to information about an individual's own health in America as of 2014, focusing on health care ethics, international and domestic health laws, and the UNESCO Universal Declaration on the Humane Genome and Human Rights. Genetic examinations and personal autonomy are mentioned, along with diagnoses of disorders such as Huntington's disease. The concept of self-authorship is examined, along with a right to privacy.

The article discusses a reported effort to define the scope of public engagement in regards to a "right not to know" in public health genomics as of March 2014. Autonomy and an individual's rights are addressed in relation to bioethics, personal genetic information, and the promotion of the common good. Transparency and communication are mentioned in regards to democratic participation in health policy decision-making. Disease development and genetic susceptibility are also examined.

The article discusses autonomy, a right to know, and a right not to know personal research results in relation to genetic screening information as of March 2014, focusing on bioethics and diseases such as Type I diabetes involving young children. The ethical aspects of research using biological material stored in biobanks are assessed, along with legal rights and the expansion of health registers due to progress involving proteomics and genetics.

The article discusses a right not to know and a duty to tell in relation to human genetic information sharing and potential conflicts of interest between U.S. medical patients (index-persons) and their families and relatives as of 2014. Genetic predispositions for disorders or diseases are mentioned, along with the reported hereditary nature of genes. Anxiety, depression, and stigmatization are examined in relation to self-image and autonomy. Direct-to-consumer genetic testing is assessed.

The article focuses on the challenges associated with the public health. Topics discussed include the effect of economic crisis, climate change and globalisation on health, artificial reproduction, genetic testing for the improvement of public health. Also mentions the strategy of World Health Organization to tackle the risk factor associated with the transmission of non communicable diseases.

Using the principles of public health genomics, we examined the opportunities and challenges of implementing personalized prevention programmes for cancer at the population level. Our model-based estimates indicate that polygenic risk stratification can potentially improve the effectiveness and cost-effectiveness of screening programmes. However, compared with 'one-size-fits-all' screening programmes, personalized screening adds further layers of complexity to the organization of screening services and raises ethical, legal and social challenges. Before polygenic inheritance is translated into population screening strategy, evidence from empirical research and engagement with and education of the public and the health professionals are needed. [ABSTRACT FROM AUTHOR]

This article considers the distinctive features of epigenetics and discusses whether, as a matter of ethics and law, epigenetics should be considered separate from genetics. [ABSTRACT FROM AUTHOR]

The rise of technologies that can inexpensively sequence entire genomes means that researchers and clinicians have access to ever vaster stores of genomic data, some of which could be of great use to research participants or patients, and most of which, at least for today, will be of little, uncertain, or no use. Those facts are essential features of a new ethical territory we are now entering with genetics research. As we explore that territory, we should try to be as clear as possible about the issues at hand. Clarity about the ethical issues that delineate this new territory requires that we be wary about too hastily importing into it concepts from the old territory. We want to suggest a way in which the term 'incidental findings' can impede our ability to see clearly some of the most important issues we face. To show how that term can sometimes obscure more than it illuminates, we focus on how it is being deployed in the context of research. Although it may have been useful, when considering older forms of genetic research, to speak about researchers stumbling across clinically significant findings, and although that way of speaking has certainly not yet become wholly obsolete, it is ever less appropriate as the technology becomes ever more powerful. [ABSTRACT FROM AUTHOR]

The United States' Genetic Information Nondiscrimination Act of 2008 was sweeping legislation intended to protect the privacy of genetic information and prevent discrimination based on genetic factors in health insurance and employment. It protects the genetic privacy of individuals in these contexts and limits the likelihood that genetic discrimination will occur. However, in the case of employment, it does so at the cost of safety, both to the individuals it is meant to protect and to others. On occasion, adherence to the dictates of GINA could lead to serious and avoidable harm to many people. Odd as it may seem, then, there can be such a thing as justified genetic discrimination. There are times when knowledge of genetic factors and subsequent action overrides reasons against obtaining or using such information. Moreover, this knowledge can be obtained without violating one's genetic privacyx. [ABSTRACT FROM AUTHOR]

The advent of new genetic and genomic technologies may cause friction with the principle of respect for autonomy and demands a rethinking of traditional interpretations of the concept of informed consent. Technologies such as whole-genome sequencing and micro-array based analysis enable genome-wide testing for many heterogeneous abnormalities and predispositions simultaneously. This may challenge the feasibility of providing adequate pre-test information and achieving autonomous decision-making. At a symposium held at the 11th World Congress of Bioethics in June 2012 ( Rotterdam), organized by the International Association of Bioethics, these challenges were presented for three different areas in which these so-called 'new genetics' technologies are increasingly being applied: newborn screening, prenatal screening strategies and commercial personal genome testing. In this article, we build upon the existing ethical framework for a responsible set-up of testing and screening offers and reinterpret some of its criteria in the light of the new genetics. As we will argue, the scope of a responsible testing or screening offer should align with the purpose(s) of testing and with the principle of respect for autonomy for all stakeholders involved, including (future) children. Informed consent is a prerequisite but requires a new approach. We present preliminary and general directions for an individualized or differentiated set-up of the testing offer and for the informed consent process. With this article we wish to contribute to the formation of new ideas on how to tackle the issues of autonomy and informed consent for (public) healthcare and direct-to-consumer applications of the new genetics. [ABSTRACT FROM AUTHOR]

Background:Biobanking is the process of storing high quality human biospecimens alongside linked clinical data, for research purposes. The aim is to identify novel biomarkers with prognostic or diagnostic significance. However, the challenges implicit in the collection and storage of human tissue for research have curtailed the impact of this technique to date.Aim:This paper aims to summarise the challenges faced by biobanking within the ENT specialty in the UK, and to present protocols used for the routine collection, freezing and storage of tissue specimens at the Royal National Throat, Nose and Ear Hospital. These protocols could be used to guide other ENT departments (in the UK and worldwide) wishing to initiate the routine collection and storage of tissue samples. Their publication could also help to establish basic standards and ensure consistency in ENT tissue storage.Methods:Interviews conducted with industry experts, and a literature review of ‘best practice’ in biobanking.Conclusion:The ENT specialty must stay abreast of progress in human tissue research in order to ensure the best possible management of its patients. Our protocol for the routine banking of ENT tissue at the Royal National Throat, Nose and Ear Hospital could be used as a template for other ENT departments (in the UK and worldwide) to encourage widespread implementation of high quality tissue banking. [ABSTRACT FROM PUBLISHER]

This article on mitochondrial replacement technology briefly explains and defends the legitimacy of such terms as 'three-parent embryos', 'three-parent babies' and 'three-person IVF'. Next, it reviews select ethical objections to mitochondrial replacement technology that fall into four, sometimes overlapping, categories: (i) harms to egg providers; (ii) harms to potential offspring and future generations; (iii) harms to specific interest groups; and (iv) harms to society. Taken together, these ethical objections are cause for serious concern and yet the development and future use of mitochondrial replacement technology is likely inevitable. [ABSTRACT FROM AUTHOR]

An article by Melissa Gymrek and colleagues, published this January in Science, described how the researchers used surname inferences from commercial genealogy databases and Internet searches to deduce the identity of nearly fifty research participants whose supposedly private data were stored in large, publicly available datasets. This news comes just months after the Presidential Commission for the Study of Bioethical Issues published a report that expressed serious concerns about personal privacy and security in whole genome sequencing. The bioethics commission (on which we serve as chair and vice-chair) highlighted the importance of reconciling the enormous public benefits anticipated from research in this area with the potential risks to individuals' privacy, and it offered several policy proposals to help balance the potential of scientific progress with privacy and respect for persons. The human subjects research protections laid out in the federal regulations are triggered by the identifiability of data. The participants in the Gymrek et al. study were not 'readily identifiable'; however, the data proved far more easily identifiable than expected. With rapidly evolving technology, a precise definition of that notion may be impossible. But if we move the debate from the rhetoric of identifiability to the ethical principles of public beneficence and the centrality of respecting all persons, we find that the real ethical focus must be on promoting generalizable progress while at all times respecting individual privacy. [ABSTRACT FROM AUTHOR]

Over the years a number of countries have abolished anonymous gamete donation and shifted toward open-identity policies. Donor-conceived children are said to have a fundamental “right to know” the identity of their donor. In this article, we trace the arguments that underlie this claim and question its implications. We argue that, given the status attributed to the right to know one's gamete donor, it would be discriminatory not to extend this right to naturally conceived children with misattributed paternity. One way to facilitate this would be through routine paternity testing at birth. While this proposal is likely to raise concerns about the conflicting interests and rights of other people involved, we show that similar concerns apply to the context of open-identity gamete donation. Unless one can identify a rational basis for treating the two groups differently, one's stance toward both cases should be the same. [ABSTRACT FROM PUBLISHER]

The article focuses on the bioethical issues associated with the forced disclosure of genomic data in cases of open identity gamete donations and on the article "The Right to Know Your Genetic Parents: From Open-Identity Gamete Donation to Routine Paternity Testing" by An Ravelingien and Guido Pennings. In the article the author offers opinions on the moral and ethical aspects of the personal genomics industry and on several points which are raised within Ravelingien and Pennings' article.

Although laboratory specimens are an important resource for biomedical research, controversy has arisen when research has been conducted without the knowledge or consent of the individuals who were the source of the specimens. This paper summarizes the most important litigation regarding the research use of laboratory specimens and traces the evolution of legal theory from property claims to claims related to genetic privacy interests. [ABSTRACT FROM AUTHOR]

In spite of a trend towards open identity, the ethical issues raised by the removal of anonymity from sperm donors are still contentious and raise controversy about the significance of genetic inheritance and what are often seen as competing rights claims for the children born, for donors and for the parents of donor insemination (DI) offspring. This review provides a short discussion of the arguments for and against the disclosure of donor insemination status to offspring, which are at the heart of the controversy over anonymity as they relate to the stakeholders in the process. [ABSTRACT FROM AUTHOR]

The purpose of this study was to describe the clinical, research, educational, and professional activities that nurses are engaged in following participation in a 2 month intramural genetics training program. An online survey was administered in 2010 to graduates of the program sponsored by the US National Institute of Nursing Research from 2000 to 2009, in Bethesda, Maryland, USA. The electronic, voluntary survey was sent to 189 graduates via email. The survey included demographic characteristics, educational preparation, professional roles and responsibilities, and attitudes about genetic testing and privacy issues. Of the 95 graduates responding to the survey, 74% had doctorates and 70% were advanced practice nurses. All respondents reported incorporating genetics knowledge into daily clinical, academic, or research practices since completing the program, with 72% reporting being involved in genetically-focused research (52% with research funding), 32% incorporating genetics into patient care, and 79% providing genetics education. Respondents working in a hospital setting or academic institution were more likely to desire additional training in genetics. National Institute of Nursing Research graduates have successfully integrated genomics into a variety of nursing practices. [ABSTRACT FROM AUTHOR]

The article offers information on how pharmacogenomics can aid nurses provide better care for patients. It illustrates an example of a lady aged 62 who experienced an acute myocardial infarction and was prescribed with genetic testing which resulted in better outcome. It discusses pharmacogenomic implications with warfarin drug, including antiplatelet therapy, mental health, human immunodeficiency virus (HIV) therapy, and oncology. Further discussed are limitations of genetic testing.

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muir l.a., george p.m. & whitehead l. (2012) Using the experiences of people with familial hypercholesterolaemia to help reduce the risk of cardiovascular disease: a qualitative systematic review. Journal of Advanced Nursing 68(9), 1920-1932. Abstract Aims. This paper presents the results of a systematic review of qualitative studies identifying the experiences and perceptions of people living with familial hypercholesterolaemia. Background. Familial hypercholesterolaemia is a genetic condition that causes cardiovascular disease and early death. It can be easily diagnosed and treated. Diagnostic rates sit around 20% of the at-risk population in western countries. Screening the relatives of diagnosed people is the best way of identifying those at risk so that, if necessary, treatment can be offered. Presentation for screening can depend on diagnosed people informing relatives of their increased risk and advising them to volunteer for testing. We conducted this review to identify if this approach to screening contributes to low diagnostic and treatment rates. Data sources. Searches were made of 11 electronic databases and grey literature from 1990-February 2011. Review method. A systematic review of studies that met the review aim was undertaken. Relevant data were extracted and a narrative synthesis conducted. Results. Poor health literacy, family and other social dynamics can both impede the ability and reduce the likelihood of diagnosed people approaching and adequately explaining the risk of familial hypercholesterolaemia to relatives. Relatives may misunderstand the significance of their messages or not see them as personally relevant. Conclusion. To ensure contact takes place and relatives are able to make informed decisions around being tested, expert clinicians must evaluate the health literacy and social contexts of diagnosed people before assigning them responsibility for contacting family and actively provide support and follow up. [ABSTRACT FROM AUTHOR]

Sport celebrates differences in competitors that lead to the often razor-thin margins between victory and defeat. The source of this variation is the interaction between the environment in which the athletes develop and compete and their genetic make-up. However, a darker side of sports may also be genetically influenced: some anti-doping tests are affected by the athlete's genotype. Genetic variation is an issue that anti-doping authorities must address as more is learned about the interaction between genotype and the responses to prohibited practices. To differentiate between naturally occurring deviations in indirect blood and urine markers from those potentially caused by doping, the “biological-passport” program uses intra-individual variability rather than population values to establish an athlete's expected physiological range. The next step in “personalized” doping control may be the inclusion of genetic data, both for the purposes of documenting an athlete's responses to doping agents and doping-control assays as well facilitating athlete and sample identification. Such applications could benefit “clean” athletes but will come at the expense of risks to privacy. This article reviews the instances where genetics has intersected with doping control, and briefly discusses the potential role, and ethical implications, of genotyping in the struggle to eliminate illicit ergogenic practices. [ABSTRACT FROM PUBLISHER]

Background: Genomic biorepositories will be important tools to help unravel the effect of common genetic variants on risk for common pediatric diseases. Our objective was to explore how parents would respond to the inclusion of children in an opt-out model biobank. Methods: We conducted semistructured interviews with parents in hospital-based pediatric clinics. Participants responded to a description of a biorepository already collecting samples from adults. Two coders independently analyzed and coded interviews using framework analysis. Opt-out forms were later piloted in a clinic area. Parental opt-out choices were recorded electronically, with opt-out rates reported here. Results: Parents strongly supported medical research in general and expressed a high level of trust that Vanderbilt University would keep their child's medical information private. Parents were more likely to allow their child's sample to be included in the biorepository than to allow their child to participate in a hypothetical study that would not help or harm their child but might help other children. Only a minority were able to volunteer a concern raised by the description of the biobank. The opt-out rate was initially high compared with the opt-out rate in the adult biorepository, but decreased after the first week to near the baseline in adult clinics. Conclusions: Parents in our study generally support an opt-out model biobank in children. Most would allow their own child's sample to be included. Institutions seeking to build pediatric biobanks may consider the human non-subjects model as a viable alternative to traditional human-subjects biobanks. [ABSTRACT FROM AUTHOR]

Direct-to-consumer personalized genomic medicine has recently grown into a small industry that sells mail-order DNA sample kits and then provides disease risk assessments, typically based upon results from genome-trait association studies. The companies selling these services have been largely exempted from FDA regulation in the United States. Testing kit companies and their supporters have defended the industry's unregulated status using two arguments. First, defenders have argued that mere absence of harm is all that must be proved for mail-order tests to be acceptable. Second, defenders of mail-order testing have argued that there is an individual right to the tests' information. This article rebuts these arguments. The article demonstrates that the direct-to-consumer market has resulted in the sidelining of clinical utility (medical value to patients), leading to the development of certain mail-order tests that do not promote customers' interests and to defenders' downplaying of a potentially damaging empirical study of mail-order genomic testing's effects on consumers. The article also shows that the notion of an individual right to these tests rests on a flawed reading of the key service provided by mail-order companies, which is the provision of medical interpretations, not simply genetic information. Absent these two justifications, there is no reason to exempt direct-to-consumer personalized genomic medicine from stringent federal oversight. [ABSTRACT FROM AUTHOR]

Research now provides participants greater indications of genetic risk for disease, even for conditions incidental to the research study. Given this development, should such information also be disclosed to the family of research participants? There has been some indication at the national level that genetic risk information can be disclosed to participants' families; however, limited attention has been given to returning research results to family. Thus, we have also incorporated the discussion surrounding the disclosure of genetic risk discovered in the clinic (e.g., genetic testing). A number of important questions are examined: Should genetic research results be provided to family? Are there differences between clinical and research findings that would prevent research results from being disclosed to family? Who should make the disclosure, if in fact it is done at all? We conclude by noting that the return of results is increasingly accepted as technology permits the discovery of more and more medically useful data. However, debates of whether results should be returned to participants must first be settled before moving to familial disclosure. [ABSTRACT FROM AUTHOR]