Over 30 million people worldwide have taken a commercial at-home DNA test, because they were interested in their genetic ancestry, disease predisposition or inherited traits. Yet, these consumer DNA data are also increasingly used for a very different purpose: to identify suspects in criminal investigations. By matching a suspect’s DNA with DNA from a suspect’s distant relatives who have taken a commercial at-home DNA test, law enforcement can zero in on a perpetrator. Such forensic use of consumer DNA (...) data has been performed in over 200 criminal investigations. However, this practice of so-called investigative genetic genealogy raises ethical concerns. In this paper, we aim to broaden the bioethical analysis on IGG by showing the limitations of an individual-based model. We discuss two concerns central in the debate: privacy and informed consent. However, we argue that IGG raises pressing ethical concerns that extend beyond these individual-focused issues. The very nature of the genetic information entails that relatives may also be affected by the individual customer’s choices. In this respect, we explore to what extent the ethical approach in the biomedical genetic context on consent and consequences for relatives can be helpful for the debate on IGG. We argue that an individual-based model has significant limitations in an IGG context. The ethical debate is further complicated by the international, transgenerational and commercial nature of IGG. We conclude that IGG should not only be approached as an individual but also—and perhaps primarily—as a collective issue. There are no data in this work. (shrink)

As nation-states make greater efforts to regulate the flow of people on the move—refugees, economic migrants, and international travelers alike—advocates of DNA profiling technologies claim DNA testing provides a reliable and objective way of revealing a person’s true identity for immigration procedures. This article examines the use of DNA testing for family reunification in immigration cases in Finland, Germany, and the United States—the first transatlantic analysis of such cases—to explore the relationship between technology, the meaning of family, and immigration. Drawing (...) on our analyses of archival records, government documents, and interviews with immigration stakeholders, we argue that DNA testing is not conclusive about the meaning of family. While the technology may facilitate decision making for both would-be immigrants and state officials, our study shows hesitancy among the latter to let DNA testing make the final determination. We introduce the concept of social validity—whether the interpretation of test results matches social or political meanings in a given local context—in order to make sense of the complexities and challenges of DNA testing in practice. We show that DNA testing is not just a technology of belonging or a way to claim citizenship rights. It may also enable exclusion and denial of rights. (shrink)

As nations strengthen borders and restrict refugee admissions, national security officials are screening for fraudulent nationality claims. One tool to investigate nationality claims is DNA testing, either for claimed relationships or for ancestral origins. At the same time, the plight of global statelessness leaves millions without documentation of their nationality, and DNA testing might be the only recourse to provide evidence of heritage or relationships. DNA testing has been used sparsely to date to determine ancestral origin as a proxy for (...) nationality but could increase as border controls tighten. Given the historic lessons in eugenics and the potential for misuse of personal genetic information, it is essential to consider the ethical parameters in order to guide the implementation of genetic data for such purposes. Here, we break down examples of the use of DNA testing for nationality, and the risks and benefits of genetic testing for this purpose. Important ethical considerations discussed include (1) empowerment of stateless individuals with evidence for citizenship proceedings; (2) imprecise correlation between genetic heritage and nationality; (3) effective protection of state interests; and (4) practicalities of DNA testing. (shrink)

A number of public controversies have emerged around forensic DNA testing backlogs at crime laboratories in the United States. This study provides a first look at public responses to such backlogs, using a controversy in the state of Wisconsin as a case study. First, it builds on research about public understandings of DNA and the “CSI effect” to develop a theoretical framework. Next, it explores news coverage of the Wisconsin backlog. It then uses survey data to show that public understandings (...) of DNA, media use, and demographic factors were related to how closely respondents followed the story about the backlog and/or how much they supported increased spending on DNA testing at the crime lab. Self-reported understanding of DNA predicted following the backlog, whereas perceived reliability of DNA evidence predicted both following the backlog and support. Total television viewing was not related to either following the backlog or support, but watching crime television predicted following the backlog. Reading a newspaper and watching local TV news each predicted following the backlog; reading a newspaper also predicted support. These results suggest a number of theoretical insights into how members of the public may reason about and draw on media messages regarding DNA and DNA testing in responding to forensic DNA testing backlogs. (shrink)

Abstract: The discovery of DNA paternity tests has stirred a debate concerning the definition of paternity and whether the grounds for such a definition are legal or biological. According to the classical rules of Islamic law, paternity is established and negated on the basis of a valid marriage. Modern biomedical technology raises the question of whether paternity tests can be the sole basis for paternity, even independently of marriage. Although on the surface this technology seems to challenge the authority of (...) Islamic law in this area, the paper argues that classical Islamic rulings pertaining to paternity issues continue to hold higher authority even in cases of conflict with modern technology-based alternatives. Through closer analysis, the paper traces the emergence of a differentiation in the function of DNA tests between identity and paternity verification. While the former is accepted without reservation, the latter is approved only when it does not violate the rulings of Islamic law. (shrink)

Since its advent, predictive DNA testing has been perceived as a technology that may have considerable impact on the quality of people’s life. The decision whether or not to use this technology is up to the individual client. However, to enable well considered decision making both the negative as well as the positive freedom of the individual should be supported. In this paper, we argue that current professional and public discourse on predictive DNA-testing is lacking when it comes to supporting (...) positive freedom, because it is usually framed in terms of risk and risk management. We show how this ‘risk discourse’ steers thinking on the good life in a particular way. We go on to argue that empirical research into the actual deliberation and decision making processes of individuals and families may be used to enrich the environment of personal deliberation in three ways: (1) it points at a richer set of values that deliberators can take into account, (2) it acknowledges the shared nature of genes, and (3) it shows how one might frame decisions in a non-binary way. We argue that the public sharing and discussing of stories about personal deliberations offers valuable input for others who face similar choices: it fosters their positive freedom to shape their view of the good life in relation to DNA-diagnostics. We conclude by offering some suggestions as to how to realize such public sharing of personal stories. (shrink)

Recognizing the profound need for greater patient and provider familiarity with personalized genomic medicine, many university instructors are including personalized genotyping as part of their curricula. During seminars and lectures students run polymerase chain reactions on their own DNA or evaluate their experiences using direct-to-consumer genetic testing services subsidized by the university. By testing for genes that may influence behavioral or health-related traits, however, such as alcohol tolerance and cancer susceptibility, certain universities have stirred debate on the ethical concerns raised (...) by educational genotyping. Considering the potential for psychosocial harm and medically relevant outcomes, how far should university-facilitated DNA testing be permitted to go? The analysis here distinguishes among these learning initiatives and critiques their approaches to the ethical concerns raised by educational genotyping. (shrink)

Sociological accounts usually emphasise the primacy of phenotype (cor, colour) over ancestry for orienting concepts of ‘race’ in Brazil. In this paper, I present an alternative account of the cultural and political significance of ancestry in contemporary Brazil, drawing on qualitative interviews conducted with 50 Brazilians who had recently taken personalised DNA ancestry tests. The interviewees’ attitudes towards their ancestry are interpreted in relation to Brazil’s longstanding national myth of mestiçagem and the history of eugenic Whitening ideologies (ideologias do branqueamento) (...) that have sought to erase traces of Brazil’s African origins. However, they are also interpreted also against the backdrop of contemporary Black Movement activism that aims to actively recovering Afro-Brazilian histories and memories from these processes of erasure. (shrink)

A communitarian approach is applied to DNA testing and databases. It concerns itself both with individual rights and the common good. It finds that DNA testing, although it is highly intrusive, often advances both individual rights and the common good . However given its high level of intrusiveness and the insufficient level of oversight provided by existing checks and balances, the author argues for a national civil review board to provide still more accountability.

This article seeks to outline a viewpoint on the study of the legal, ethical and policy considerations raised by DNA tests and databases. It does not delve into the specifics involved. It outlines a way of thinking that has proven productive elsewhere1 and seems promising in dealing with DNA usages in the United States, but little more. Given that this essay is about a communitarian approach that draws on specific communitarian values, I turn next to briefly present the approach here (...) followed.Communitarianism is a social philosophy that maintains that society should articulate what is good, and asserts that such articulations are both necessary and legitimate. Communitarianism is often contrasted with classical liberalism, a philosophical position that holds that individuals should formulate their idea of good on their own. Communitarians examine the ways shared conceptions of the good are formed, transmitted, justified, and enforced. (shrink)

Since its advent, predictive DNA testing has been perceived as a technology that may have considerable impact on the quality of people’s life. The decision whether or not to use this technology is up to the individual client. However, to enable well considered decision making both the negative as well as the positive freedom of the individual should be supported. In this paper, we argue that current professional and public discourse on predictive DNA-testing is lacking when it comes to supporting (...) positive freedom, because it is usually framed in terms of risk and risk management. We show how this ‘risk discourse’ steers thinking on the good life in a particular way. We go on to argue that empirical research into the actual deliberation and decision making processes of individuals and families may be used to enrich the environment of personal deliberation in three ways: (1) it points at a richer set of values that deliberators can take into account, (2) it acknowledges the shared nature of genes, and (3) it shows how one might frame decisions in a non-binary way. We argue that the public sharing and discussing of stories about personal deliberations offers valuable input for others who face similar choices: it fosters their positive freedom to shape their view of the good life in relation to DNA-diagnostics. We conclude by offering some suggestions as to how to realize such public sharing of personal stories. (shrink)

Part 1 of this exploratory study demonstrated that for terminal, instrumental, and work values, supervisors could only accurately assess the extent to which their terminal values are congruent with their employees, whereas, employees could only accurately describe degrees of alignment with their supervisors' work values. Thus, supervisors appear to possess conscious awareness of the terminal values held by their employees and employees similarly possess conscious awareness of their supervisors' work values. Part 2 of the study examined what each of these (...) two parties might do with their conscious knowledge concerning value congruence with the other member. Supervisor ratings and employee self-ratings concerning employee job performance, citizenship, climate fit, working relationship (LMX), and other issues, were correlated with supervisor terminal value congruence estimates and employee work value congruence estimates respectively. For supervisors, only one significant finding was noted, indicating a positive relationship between the supervisors' awareness of terminal value congruence with the employee and the supervisors' estimate of the employee's potential for future promotion. For employees, seven hypotheses received support demonstrating relationships between the employees' awareness of supervisor/employee work value congruence and self-ratings of work behaviours, citizenship behaviours, volunteerism behaviours, work climate behaviours, work climate attitudes, work climate organizational-wide attitudes, and the supervisor/employee working relationship. Implications for management and future research are discussed. (shrink)

This exploratory study examines awareness of the other party''s instrumental, terminal, and work values by members of supervisor and employee dyads. Subjective estimates of value congruence, provided by either member of the dyad, correlated with actual value congruence scores determine conscious awareness levels in all cases. Results demonstrate supervisory awareness of employee terminal values, but not work values or instrumental values, even though these latter value types probably possess the greatest relevance to achieving organizational goals. Further, employees possess awareness of (...) supervisor work values but not instrumental or terminal values. These findings challenge traditional assumptions underlying the functionalism position on organizational culture that appears in the literature most frequently read by practicing managers. (shrink)

Part 1 of this exploratory study demonstrated that for terminal, instrumental, and work values, supervisors could only accurately assess the extent to which their terminal values are congruent with their employees, whereas, employees could only accurately describe degrees of alignment with their supervisors’ work values. Thus, supervisors appear to possess conscious awareness of the terminal values held by their employees and employees similarly possess conscious awareness of their supervisors’ work values. Part 2 of the study examined what each of these (...) two parties might do with their conscious knowledge concerning value congruence with the other member. Supervisor ratings and employee self-ratings concerning employee job performance, citizenship, climate fit, working relationship (LMX), and other issues, were correlated with supervisor terminal value congruence estimates and employee work value congruence estimates respectively. For supervisors, only one significant finding was noted, indicating a positive relationship between the supervisors’ awareness of terminal value congruence with the employee and the supervisors’ estimate of the employee’s potential for future promotion. For employees, seven hypotheses received support demonstrating relationships between the employees’ 0awareness of supervisor/employee work value congruence and self-ratings of work behaviours, citizenship behaviours, volunteerism behaviours, work climate behaviours, work climate attitudes, work climate organizational-wide attitudes, and the supervisor/employee working relationship. Implications for management and future research are discussed. (shrink)

In this brief report, the authors argue that while a lot of concerns about forensic DNA databases have been raised using arguments from biomedical ethics, these databases are used in a complete different context from other biomedical tools. Because they are used in the struggle against crime, the decision to create or store a genetic profile cannot be left to the individual. Instead, this decision is made by officials of a society. These decisions have to be based on a policy (...) that is the concretisation of some of society's most fundamental ideas about its own nature and function. Individuals wanting to influence these decisions have to try to influence this policy, within the bounds of a state's own self-concept. This article is an attempt to reorient the discussion about forensic DNA databases from a biomedical debate to a more political–philosophical one. (shrink)

Managing the interplay of private information within families creates challenges, especially when the information involves member identity, a complex and emotionally charged issue. Ravelingien and...

Under the terms of the UN Convention on the Rights of the Child, which Australia has ratified, children have a right to know who their genetic parents are. As a result, we have a duty to establish these facts and to make this information available for children to access should they wish to know. Introducing mandatory DNA testing of newborns and their alleged genetic parents is one viable option to ensure that this information is available for children to access. Indeed, (...) it may be the only viable option to address childrens' right to the fulfilment of Article 7 of the CRC. There are a number of benefits to obtaining this benefit for children. For one, mandatory DNA testing could solve all disputed paternity cases and finalise them early in the lives of children, thus making life more financially secure for those children in the long term. This could reduce or eliminate the need for fathers to secretly carry out DNA tests in order to disestablish paternity. The large number of benefits gained from identifying genetic parents for children and the small possible risks that they may suffer when this information is withheld give us good reasons to support mandatory DNA testing. (shrink)

The primary impediment to formulating a general theory for adaptive evolution has been the unknown distribution of fitness effects for new beneficial mutations. By applying extreme value theory, Gillespie circumvented this issue in his mutational landscape model for the adaptation of DNA sequences, and Orr recently extended Gillespie's model, generating testable predictions regarding the course of adaptive evolution. Here we provide the first empirical examination of this model, using a single-stranded DNA bacteriophage related to phiX174, and find that our data (...) are consistent with Orr's predictions, provided that the model is adjusted to incorporate mutation bias. Orr's work suggests that there may be generalities in adaptive molecular evolution that transcend the biological details of a system, but we show that for the model to be useful as a predictive or inferential tool, some adjustments for the biology of the system will be necessary. (shrink)

This special issue examines the diverse realities created by the intersection of emerging technologies, new scientific knowledge, and the human being. It engages with two key questions: how is the human being shaped and constructed in new ways through advances in science and technology? and how might these new ways of imagining the subject shape present and future human rights law and practice? The papers examine a variety of scientific technologies—personalized medicine and organ transplant, mitochondrial DNA replacement, and scaffolds and (...) regenerative medicine—and their implications for our conceptualization of the human subject. Each is then followed by a commentary that both brings to light new dimensions of the original paper and presents a new theoretical take on the topic. Together these papers offer a serious challenge to the vision of the human subject at the root of human rights law. Instead of the autonomous, rational, unique, and physically discrete individual who owns herself and her body, the subject that emerges from the human technology assemblage has physically porous boundaries and a relational self. This depiction of the human being as a relational subject enmeshed in her technoscientific environment requires that we reconceptualize human rights law and practice. (shrink)

The regulation of DNA replication is a fascinating biological problem both from a mechanistic angle—How is replication timing regulated?—and from an evolutionary one—Why is replication timing regulated? Recent work has provided significant insight into the first question. Detailed biochemical understanding of the mechanism and regulation of replication initiation has made possible robust hypotheses for how replication timing is regulated. Moreover, technical progress, including high‐throughput, single‐molecule mapping of replication initiation and single‐cell assays of replication timing, has allowed for direct testing of (...) these hypotheses in mammalian cells. This work has consolidated the conclusion that differential replication timing is a consequence of the varying probability of replication origin initiation. The second question is more difficult to directly address experimentally. Nonetheless, plausible hypotheses can be made and one—that replication timing contributes to the regulation of chromatin structure—has received new experimental support. (shrink)

This Christian sermon uses a DNA lab experience as a basis for theological reflection on ourselves and our offering. Who are we to God? What determines the self that we offer? Can the alphabet of DNA shed light for us on the Word of God in our lives? This first attempt to introduce the language and laboratory environment of genetic testing (represented by DNA fingerprinting) within a parish preaching context juxtaposes liturgical, scientific, and biblical language and settings for fresh insights.

: Forensic DNA testing threatens American civil liberties.

Forensic DNA phenotyping (FDP) is an emerging technology that seeks to make probabilistic inferences regarding a person’s observable characteristics (“phenotype”) from DNA. The aim is to aid criminal investigations by helping to identify unknown suspected perpetrators, or to help with non-criminal missing persons cases. Here we provide results from the analysis of 36 interviews with those who have a professional stake in FDP, including forensic scientists, police officers, lawyers, government agencies and social scientists. Located in eight EU countries, these individuals (...) were asked for their views on the benefits and problems associated with the prospective use of FDP. While all interviewees distinguished between those phenotypic tests perceived to either raise ethical, social or political concerns from those tests viewed as less ethically and socially problematic, there was wide variation regarding the criteria they used to make this distinction. We discuss the implications of this in terms of responsible technology development. (shrink)

Although DNA microarrays are now widely used in research settings, they have been slow to penetrate clinical practice in spite of their apparent advantages. This is due to the very different requirements for a clinical test in contrast to a research tool, and to a strict necessity for demonstrated clinical utility. There is a clear differentiation between two types of DNA array tests: “genomic” diagnostics, developed to ascertain the presence or absence of mutations, deletions or duplications, and for which (...) clinical evidence is already established, and tests using expression profiling for prognosis or predictive purposes, in which case the clinical correlate must be proven. Most array diagnostics currently used belong, understandably, to the “genomic” variety. It is to be expected that future improvements in tailored technology, as well as a logical trend towards measuring an ever‐increasing number of parameters, will ensure an important diagnostic role for DNA arrays in the coming decade. BioEssays 29:699–705, 2007. © 2007 Wiley Periodicals, Inc. (shrink)

DNA databases have significant commercial value. Direct-to-consumer genetic testing companies have built databanks using samples and information voluntarily provided by customers. As the price of genetic analysis falls, there is growing interest in building such databases by paying individuals for their DNA and personal data. This paper maps the ethical issues associated with private companies paying for DNA. We outline the benefits of building better genomic databases and describe possible concerns about crowding out, undue inducement, exploitation, and commodification. While certain (...) objections deserve more empirical and philosophical investigation, we argue that none currently provide decisive reasons against using financial incentives to secure DNA samples. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Genetic Testing and Genetic ScreeningPat Milmoe McCarrick (bio)In recent years there has been an enormous expansion in the knowledge that may be gleaned from the testing of an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring. The Human Genome Project, which is currently mapping the entire human gene system, is identifying progressively more genetic sequencing information (see Scope Note 17, (...) The Human Genome Project). Information obtained from genetic testing raises ethical and legal questions about its uses by society. The ethical dilemmas were foreseen two decades ago by bioethicists who asked whether questionable applications could stop "legitimate pursuits" (IV, Gaylin 1972) and whether genetic disease might come to be viewed as "transmissible" in the sense of being contagious (IV, Veatch 1974).Not only has knowledge expanded, but the practice of genetic testing and screening has greatly increased as well. For example, in the case of testing for cystic fibrosis (CF), the U.S. Congress' Office of Technology Assessment (OTA) estimates that instances of screening jumped from 9310 tests in 1991 to 63,000 tests in 1992 (I, OTA [Cystic Fibrosis] 1992). In addition, the OTA estimates that within the next few years, the six million women who become pregnant each year routinely will be informed of available CF carrier tests (I, OTA [Cystic Fibrosis] 1992).Following the recent identification of a gene linked to breast cancer, Dr. Francis Sellers Collins, director of the National Center for Human Genome Research, said that "it is not inconceivable that every woman in America may want to be screened for this gene. The economic, ethical, and counseling issues will be very daunting." Dr. Collins opines that in the near future physical examinations for 18-year-olds will include DNA testing for diseases with genetic components and that physicians, in the interests of preventive medicine, will make risk-based recommendations for a healthy life-style (IV, Breo 1993). The U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research predicted as early as 1983 that before the end of the century genetic screening and counseling would become major components of both public health and individual medical care (I, U.S. President's Commission 1983). [End Page 333]The OTA defines genetic testing as "the use of specific assays to determine the genetic status of individuals already suspected to be at high risk for a particular inherited condition. The terms genetic test, genetic assay, and genetic analysis are used interchangeably to mean the actual laboratory examination of samples." In contrast, genetic screening usually uses the same assays employed for genetic testing but is distinguished from genetic testing by its target population (I, OTA [Genetic Monitoring] 1990). The National Academy of Sciences (NAS) defines screening as the systematic search of populations for persons with latent, early, or asymptomatic disease (III, NAS 1975). Some of the literature annotated for this Scope Note appears to use the terms "testing" and "screening" interchangeably.Philip Boyle of the Hastings Center points out that the language used to describe genetic variation is important and asks what words should be used: "Defects, flaws, deleterious genes, disorders, or the more neutral conditions? Using words such as normal—and its corollary, abnormal—is likely to foster stigmatization and discrimination" (III, Genetic Grammar, Boyle 1992).Areas of focus in genetic testing include: prenatal diagnosis, newborn screening, carrier screening, forensic screening, and susceptibility screening.Prenatal diagnosis discerns whether a fetus is at risk for various identifiable genetic diseases or traits. Prenatal diagnosis is made using amniotic fluid, fetal cells, and fetal or maternal blood cells obtained during amniocentesis testing; alpha fetoprotein assays or chorionic villus sampling; or ultrasound tomography, which creates fetal images on a screen. Another method, known as fetoscopy, uses a camera on a needle inserted in the uterus to view the fetus. Since prenatal screening began in 1966 (I, U.S. President's Commission 1983), the number of metabolic defects and genetic disorders that can be diagnosed prenatally has expanded greatly. There is also discussion of requiring testing for parents who are participating in an in vitro fertilization program and are at genetic... (shrink)

The emergence of post-conviction DNA testing has had profound effects on the American criminal justice system. Although changes in the formal legal landscape are readily noticeable, the DNA exonerations have also produced other consequences that may have potentially more significance. To comprehend and assess the influence of post-conviction DNA testing one must examine more than just the law on the books. After some introductory material, Part I of this essay looks at repercussions DNA exonerations are having on the basic operation (...) of the criminal justice system, Part II examines new statutes that govern procedures for post-conviction DNA testing requests, and Part III briefly considers how these current developments may affect Supreme Court jurisprudence.Post-conviction DNA testing has evolved in little more than a decade. Before 2000, only two states, New York and Illinois, had statutes that authorized post-conviction DNA testing. In other jurisdictions, no formally authorized procedures existed that allowed inmates to make requests for DNA testing of crime scene evidence. (shrink)

DNA evidence has rapidly become a significant and routine feature of modern criminal prosecutions. The first introduction of DNA evidence in a U.S. Court occurred in 1987. By 1994, 42 percent of local prosecutors reported that they had used DNA evidence in a felony case at least once. By 2001 that number had increased to 68 percent. Moreover, from a technical point of view, the potential benefits of DNA testing are substantial. Early hurdles to admissibility during trial have been overcome (...) by the adoption of rigorous standards for DNA analysis. Rapid development of identification technology, fueled in significant part by the Human Genome Project, and the resultant development and expansion of national forensic DNA databases, has increased the potential of DNA to play a major role in crime solving. Indeed, over three million offender profiles, collected by state and federal authorities, now reside in the National DNA Index System. This number is likely to increase as more states and the federal government are expanding compelled DNA collections to individuals arrested for certain crimes. (shrink)

One obvious result of DNA exonerations has been the enactment of legislation regulating postconviction DNA testing. But the impact on our criminal justice system goes beyond formal statutory change. The DNA exonerations are changing attitudes towards the death penalty, are focusing attention on how forensic laboratories operate, and are leading to the stricter scrutiny of forensic science.

There are countless variations on this theme. The call can come from one of your own physicians who was called by the investigator. Your physician may or may not be well informed on what the reported finding about Disease Y means or how to respond. DNA testing can reveal more than susceptibility to disease. People can learn that they do not have the biological connections — parentage or evidence of ethnic origin — that they thought they did.Colleagues who serve on (...) the Institutional Review Board in my institution tell me that they currently do not permit “cold calls” of the type portrayed in the opening paragraph. Such direct contacts have, however, occurred in the past, with or without the blessing of an IRB. Sharing findings with the individual’s physician, who is then supposed to serve as a learned and wise intermediary, is not without problems either, given that many physicians understand little about complex genetics. Yet the very existence of this project on managing incidental findings in research demonstrates that some people believe that some research findings ought to be available to participants. (shrink)

The increasing availability of DNA-based diagnostic tests has raised issues about whether these should be applied to the population at large in order to identify, treat or prevent a range of diseases. DNA tests raise concerns in the community for several reasons. There is the possibility of stigmatisation and discrimination between those who test positive and those who don't. High-risk individuals may be identified for whom no proven effective intervention is possible, or conversely may test "positive" for a (...) disease that does not eventuate. Controversy concerning prenatal diagnosis and termination of affected pregnancies may arise. Haemochromatosis, however, is a disease that is not only treatable but also preventable if those at high risk are identified presymptomatically. This paper will identify and discuss key issues regarding DNA-based population screening for haemochromatosis, and argue that population-based genetic screening for haemochromatosis should be supported when a number of contentious issues are addressed. In the context of a health system with limited resources haemochromatosis is the paradigm of a disorder where there is an ethical and clinical imperative to encourage presymptomatic DNA testing for all in ethnically relevant communities. (shrink)

The importance of non-codifying DNA polymorphism for the administration of justice is now well known. In Spain, however, this type of test has given rise to questions in recent years: Should consent be obtained before biological samples are taken from an individual for DNA analysis? Does society perceive these techniques and methods of analysis as being reliable? There appears to be lack of knowledge concerning the basic norms that regulate databases containing private or personal information and the protection that (...) information of this type must be given. This opinion survey and the subsequent analysis of the results in ethical terms may serve to reveal the criteria and the degree of information that society has with regard to DNA databases. In the study, 73.20% of the population surveyed was in favour of specific legislation for computer files in which DNA analysis results for forensic purposes are stored. (shrink)

In the past twenty years, advances in forensic DNA technology have revolutionized the American criminal justice system. The use of forensic DNA testing in America began in 1987, and its demonstrated scientific accuracy quickly led jurisdictions to accept expert testimony regarding DNA matches between suspects and crime scene evidence. Wielding the power to exonerate the innocent and apprehend the guilty, the use of DNA identification technology has become an indispensable resource for prosecutors and law enforcement officials, as well as for (...) defense lawyers representing persons falsely accused or wrongfully convicted of crimes they did not commit. As states began to compile DNA profiles from convicted offenders, the need for a repository for these profiles resulted in the DNA database.Originally, DNA databases included only “those classes of offenders with a high recidivism rate, such as sex offenders and violent felons.” Recognizing the crime-solving potential of this technology, state legislatures soon began to expand the scope of DNA database statutes to include broader classes of offenders. (shrink)

This paper attempts to explore a number of conceptual issues surrounding genetic testing. It looks at the meaning of the terms, genetic information and genetic testing in relation to the definition set out by the Advisory Committee on Genetic Testing in the UK, and by the Task Force on Genetic Testing in the USA. It argues that the special arrangements that may be required for the regulation of genetic tests should not be determined by reference to the nature or technology (...) of the test, but by considering those morally relevant features that justify regulation. Failure to do so will lead to the regulation of genetic tests that need not be regulated, and would fail to cover other tests which should be regulated. The paper also argues that there is little in the nature of the properties of gene tests, using DNA or chromosomes, that in itself justifies a special approach. (shrink)

How can the forensic scientist rationally justify performing a sequence of tests and analyses in a particular case? When is it worth performing a test or analysis on an item? Currently, there is a large void in logical frameworks for making rational decisions in forensic science. The aim of this paper is to fill this void by presenting a step-by-step guide on how to apply Bayesian decision theory to routine decision problems encountered by forensic scientists on performing or not (...) performing a particular laboratory test or analysis. A decision-theoretic framework, composed of actions, states of nature, and utilities, models this problem, and an influence diagram translates its notions into a probabilistic graphical network. Within this framework, the expected value of information (EVOI) for the submission of an item to a particular test or analysis addresses the above questions. The development of a classical case example on whether to perform presumptive tests for blood before submitting the item for a DNA analysis illustrates the use of this model for source level questions in forensic biology (i.e., questions that ask whether a crime stain consisting of a particular body fluid comes from a particular person). We show how to construct an influence diagram for this example, and how sensitivity analyses lead to an optimal analytical sequence. The key idea is to show that such a Bayesian decisional approach provides a coherent framework for justifying the optimal analytical sequence for a particular case in forensic science. (shrink)

Personal genetic information services (PGI) or direct-to-consumer genomics (DTC) presents a convergence of web 2.0 platforms with consumer-oriented genetics that brings together issues of policy and design. The rise of networking over DNA profile and biodata (bionetworking) challenges the common design and HCI notions of interaction, social networking and user needs. It confronts design thinking and HCI with various biopolitical and biosocial issues discussed in STS studies. These interfaces intensify the troubled relationship between what is social and biological, collective and (...) individual, public and private, natural and political, material (embodied) and based on data or discourses. At the same time, this fast evolving convergence of biosciences with social networking transforms scientific practices in a way which demonstrates the importance of design in discussing issues of STS and policy. The notion of cosmopolitics as "collective experimentation" and "progressive composition of the common world" (Bruno Latour) offers a framework for understanding this connection between philosophy, policy and design. Bionetworking interfaces in this sense serve as probes for testing future collectives which transform the notions of human subjects, community and politics. (shrink)

ABSTRACT Numerous benefits for patients have been predicted if prescribing decisions were routinely accompanied by pharmacogenetic testing. So far, little attention has been paid to the possibility that the routine application of this new technology could result in considerable harm to patients. This article emphasises that pharmacogenetic testing shares both the opportunities and the pitfalls with ‘conventional’ disease‐genetic testing. It demonstrates that performing pharmacogenetic tests as well as interpreting the results are extraordinarily complex issues requiring a high level of expertise. (...) It further argues that pharmacogenetic testing can have a huge impact on clinical decisions and may influence the therapeutic strategy as well as the clinical monitoring of a patient. This view challenges the predominant paradigm that pharmacogenetic testing will predict patients’ responses to medicines, but that it will not provide any other significant disease‐specific predictive information about the patient or family members. The article also questions published proposals to reduce the consent procedure for pharmacogenetic testing to a simple statement that the physician wishes to test a sample of the patient's DNA to see if a drug will be safe or whether it will work, and presents an alternative model that is better suited to protect patients’ interests and to obtain meaningful informed consent. The paper concludes by outlining conditions for the application of pharmacogenetic testing in clinical practice in a way that can make full use of its potential benefits while minimising possible harm to patients and their families. (shrink)

MacDonald and Kreitman (1991) propose a test of the neutral mutationrandom drift (NM-RD) hypothesis, the central claim of the neutral theory of molecular evolution. The test involves generating predictions from the NM-RD hypothesis about patterns of molecular substitutions. Alternative selection hypotheses predict that the data will deviate from the predictions of the NM-RD hypothesis in specifiable ways. To conduct the test Mac- Donald and Kreitman examine the evolutionary dynamics of the alcohol dehydrogenase (Adh) gene in three species (...) of Drosophila. The test compares the number of DNA sequence changes between species and within species. The number of DNA differences is an indicator of the evolutionary rate of the Adh gene. Based on the test they conclude that there is strong evidence for adaptive protein evolution at particular sites in the gene. Understanding the test requires some basic knowledge about molecular terms and the predictions of neutral theory. The two important terms are fixed differences and polymorphisms. These are determined by comparing DNA sequences made up of thousands of individual nucleotide sites. A site that is unchanged within a species but different from a related species counts as a fixed difference. These are mutations that occur in some common ancestor of the lineage such that all descendants inherit the change. A site that differs within a species counts as a polymorphism. Determining the number of fixed differences and polymorphisms requires placing 1 each individual gene sequence onto a phylogenetic tree. A coalescent tree charts the ancestral relationships for a set of individual gene sequences. Sequences sampled from within a species form a within-species tree. The common ancestors of each within-species tree form a between-species tree. A detected difference counts as a polymorphism or a fixed difference depending on where it occurs in the phylogenetic tree (cf. Table 1). The test uses the numbers of polymorphisms and fixed differences as indicators of evolutionary rates.. (shrink)

Researchers summoned a Baltimore County woman to an office at the Johns Hopkins School of Public Health last spring to tell her the bad news. They had found a genetic threat lurking in her 7-year-old son's DNA—a mutant gene that almost always triggers a rare form of colon cancer. It was the same illness that led surgeons to remove her colon in 1979. While the boy, Michael, now 8, is still perfectly healthy, without surgery he is almost certain to develop (...) cancer by age 40.This genetic fortune-telling was no parlor trick. It was the product of astonishing advances in recent decades in understanding how genes build and regulate our bodies. And as scientists pinpoint new genes and learn to forecast the onset of more inherited disorders, millions of people are likely to demand their medical prognosis. (shrink)

Researchers summoned a Baltimore County woman to an office at the Johns Hopkins School of Public Health last spring to tell her the bad news. They had found a genetic threat lurking in her 7-year-old son's DNA—a mutant gene that almost always triggers a rare form of colon cancer. It was the same illness that led surgeons to remove her colon in 1979. While the boy, Michael, now 8, is still perfectly healthy, without surgery he is almost certain to develop (...) cancer by age 40.This genetic fortune-telling was no parlor trick. It was the product of astonishing advances in recent decades in understanding how genes build and regulate our bodies. And as scientists pinpoint new genes and learn to forecast the onset of more inherited disorders, millions of people are likely to demand their medical prognosis. (shrink)

In the past twenty years, advances in forensic DNA technology have revolutionized the American criminal justice system. The use of forensic DNA testing in America began in 1987, and its demonstrated scientific accuracy quickly led jurisdictions to accept expert testimony regarding DNA matches between suspects and crime scene evidence. Wielding the power to exonerate the innocent and apprehend the guilty, the use of DNA identification technology has become an indispensable resource for prosecutors and law enforcement officials, as well as for (...) defense lawyers representing persons falsely accused or wrongfully convicted of crimes they did not commit. As states began to compile DNA profiles from convicted offenders, the need for a repository for these profiles resulted in the DNA database.Originally, DNA databases included only “those classes of offenders with a high recidivism rate, such as sex offenders and violent felons.” Recognizing the crime-solving potential of this technology, state legislatures soon began to expand the scope of DNA database statutes to include broader classes of offenders. (shrink)

Genetic testing is currently subject to little oversight, despite the significant ethical issues involved. Repeated recommendations for increased regulation of the genetic testing market have led to little progress in the policy arena. A 2005 Internet search identified 13 websites offering health-related genetic testing for direct purchase by the consumer. Further examination of these sites showed that overall, biotech companies are not providing enough information for consumers to make well-informed decisions; they are not consistently offering genetic counseling services; and some (...) sites even offer tests with little evidence of clinical value. This article aims to raise company and consumer awareness about the ethical concerns surrounding the direct-to-consumer marketing of health-related genetic tests. It also suggests ways that biotech companies can bring their services to the public in an ethically responsible manner, without increased regulatory oversight. (shrink)

1. I am grateful to the respondents for the opportunity provided, to clarify the concept of a libertarian right to test and its normative implications. To sum up, I concede that genomes have a normatively salient informational aspect, that exercising the LRT may cause informational harm and violate rights of genetically related individuals, and that this is relevant to the regulation of genetic testing. But such considerations are logically compatible with a non-absolute LRT and its libertarian justification. The LRT (...) is practically relevant because it inverts the burden of justification and recognising a LRT may affect the way in which other rights are protected in a conflict of rights case. I will try to clarify this further, in what follows. 2. Consider B, an individual who is, and is aware of being, genetically related to A. Admittedly, while person A has a LRT, the interests of person B should also be protected.1 …. (shrink)