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The double helix, a double edged sword: Ethical issues in genetic testing and research
... Genetic data could be interesting for many third parties such as family members, insurance companies, employers, and law courts and may thereby lead to problems with insurance coverage, employment, stigmatization, and discrimination [36]. Thus, the duty to protect participants' privacy has emerged in the genomics research literature [7,9,10,16,17,29,35,36,40,57,62,63,66,68,70,73,[75][76][77][78][79][80][81][82][83]. ...
... The Duty to Protect Participants' Privacy The duty to protect participant's privacy is important to protect the private sphere of research participants as well as to maintain public trust in the research enterprise [84]. It has been stated that the obligation to protect privacy is higher for a researcher than for a clinician, as research has no primary aim to provide benefit to patients but can certainly lead to harm [83]. Once genomic data is released into the public domain, there is essentially no way back [7]. ...
Advances in genome sequencing together with the introduction of personalized medicine offer promising new avenues for research and precision treatment, particularly in the field of oncology. At the same time, the convergence of genomics, bioinformatics, and the collection of human tissues and patient data creates novel moral duties for researchers. After all, unprecedented amounts of potentially sensitive information are being generated. Over time, traditional research ethics principles aimed at protecting individual participants have become supplemented with social obligations related to the interests of society and the research enterprise at large, illustrating that genomic medicine is also a social endeavor. In this review we provide a comprehensive assembly of moral duties that have been attributed to genomics researchers and offer suggestions for responsible advancement of personalized genomic cancer care.
Three Pakistani populations residing in northern Pakistan, the Burusho, Kalash and Pathan claim descent from Greek soldiers associated with Alexander's invasion of southwest Asia. Earlier studies have excluded a substantial Greek genetic input into these populations, but left open the question of a smaller contribution. We have now typed 90 binary polymorphisms and 16 multiallelic, short-tandem-repeat (STR) loci mapping to the male-specific portion of the human Y chromosome in 952 males, including 77 Greeks in order to re-investigate this question. In pairwise comparisons between the Greeks and the three Pakistani populations using genetic distance measures sensitive to recent events, the lowest distances were observed between the Greeks and the Pathans. Clade E3b1 lineages, which were frequent in the Greeks but not in Pakistan, were nevertheless observed in two Pathan individuals, one of whom shared a 16 Y-STR haplotype with the Greeks. The worldwide distribution of a shortened (9 Y-STR) version of this haplotype, determined from database information, was concentrated in Macedonia and Greece, suggesting an origin there. Although based on only a few unrelated descendants, this provides strong evidence for a European origin for a small proportion of the Pathan Y chromosomes.
Research on the ethical, legal, and social implications (ELSI) of human genomics has devoted significant attention to the research ethics issues that arise from genomic science as it moves through the translational process. Given the prominence of these issues in today's debates over the state of research ethics overall, these studies are well positioned to contribute important data, contextual considerations, and policy arguments to the wider research ethics community's deliberations, and ultimately to develop a research ethics that can help guide biomedicine's future. In this essay, we illustrate this thesis through an analytic summary of the research presented at the 2011 ELSI Congress, an international meeting of genomics and society researchers. We identify three pivotal factors currently shaping genomic research, its clinical translation, and its societal implications: (1) the increasingly blurred boundary between research and treatment; (2) uncertainty - that is, the indefinite, indeterminate, and incomplete nature of much genomic information and the challenges that arise from making meaning and use of it; and (3) the role of negotiations between multiple scientific and non-scientific stakeholders in setting the priorities for and direction of biomedical research, as it is increasingly conducted "in the public square."
Autosomal recessive intellectual disability is believed to be particularly prevalent in highly consanguineous populations and genetic isolates and may account for a quarter of all non-syndromic cases. Mutations in more than 50 genes have been reported to be involved in autosomal recessive intellectual disability, including TRAPPC9 (MIM 611966), mutations of which have been identified in six families from different geographical origins. We performed a clinical and molecular genetic study of a consanguineous Pakistani family segregating intellectual disability and microcephaly. SNP-array-based homozygosity mapping revealed suggestive linkage to four genomic regions including one on chromosome 8 that contained TRAPPC9. We detected a homozygous TRAPPC9 splice donor site mutation (c.1024+1G>T) that cosegregated with intellectual disability in the family and led to skipping of exon 3 and exons 3 and 4 in blood-derived patient RNA. We have thus identified a novel splice site mutation leading to exon skipping and premature termination of TRAPPC9 translation. These data further suggest that TRAPPC9 mutations -unlike mutations in the vast majority of the known intellectual disability-associated genes- constitute a more frequent cause of autosomal-recessive cognitive deficits, especially when microcephaly is also present.
A number of authors have objected to potential parents' use of reproductive genetic technologies on the grounds that the use of these technologies reflects a morally problematic attitude toward parenting. More specifically, proponents of this view have argued that such a choice is inconsistent with the unconditional acceptance that lies at the heart of praiseworthy parental attitudes. This paper offers a rebuttal of this view by arguing that it is possible for a parent to exhibit unconditional acceptance of the child herself without accepting each of that child's traits. If this is true, the use of reproductive genetic technologies does not inherently undermine appropriate parental attitudes. Further, by working to change some of a child's specific traits, a parent may instead exemplify an aspirational aspect of praiseworthy parenting and so demonstrate appropriate parental attitudes.
The recent decision in the case Association for Molecular Pathology et al. v. United States Patent and Trademark Office et al. shocked the biotechnology industry. Although the case could be overturned on appeal, it will probably change how gene patents are written. The effects of the decision might be most strongly felt in the short term by clinical laboratories that develop new genetic tests based on single genes. However, evidence suggests that patents are less effective as an incentive to innovate in the field of genetic diagnostics than for pharmaceuticals. In addition, as genomic technologies move towards whole-genome analysis, policy arguments for patent protection for single genes become less compelling. It is clear that the intellectual property model challenged by the Myriad decision will have to be replaced if new genetic technologies are to achieve their full potential in promoting 'the progress of science and useful arts'.
Unlabelled:
Current guidelines on investigators' responsibilities to communicate research results to study participants may differ on (1) whether investigators should proactively re-contact participants, (2) the type of results to be offered, (3) the need for clinical relevance before disclosure, and (4) the stage of research at which results should be offered. Lack of consistency on these issues, however, does not undermine investigators' obligation to offer to disclose research
Results:
an obligation rooted firmly in the principle of respect for research participants.
It is widely assumed that informing prospective subjects about the risks and possible benefits of research not only protects their rights as autonomous decisionmakers, but also empowers them to protect their own interests. Yet interviews with patient-subjects conducted under the auspices of the Advisory Committee on Human Radiation Experiments suggest this is not always the case. Patient-subjects often trust their physician to guide them through decisions on research participation. Clinicians, investigators, and IRBs must assure that such trust is not misplaced.
Individuals and societal groups are questioning the practice of patenting human genetic material in the context of medical research and health care, where diverse ethical, social, and political objections are being raised by critics. A recent case provides a broad legal theory, the common law cause of action, unjust enrichment, and a precedent for challenging the commercialization and patenting of human genetic material.
This paper argues against considering incidental findings (IFs) as potential benefits of research when assessing the social value of proposed research, determining the appropriateness of a study's risk/benefit ratio, and identifying and disclosing the risks and benefits of participation during informed consent. The possibility of generating IFs should be disclosed during informed consent as neither a risk nor benefit, but as a possible outcome collateral to participation. Whether specific IFs will be disclosed when identified is a separate question whose answer is material to determining whether IFs constitute a risk or a potential indirect benefit of participation. Finally, three types of IF should be distinguished and treated differently during informed consent: those that will be routinely generated (e.g., results of testing to determine study eligibility), those that can reasonably be characterized in terms of their nature and frequency of generation (e.g., misattributed parentage), and those of unpredictable nature and frequency that can be characterized only in general terms. Research protocols should provide a rationale for sharing or not sharing IFs of these three types with participants. Regulatory review of such plans should not, however, be confused with regarding IFs as potential benefits when assessing the study's risk/benefit ratio or merit.