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1.
This article explores commercial, academic, and national initiatives aimed at using sequencing technologies to generate “actionable” genomic results that can be applied to the clinical management of oncology patients. We argue that the term “actionable” is not merely a buzzword, but signals the emergence of a distinctive sociotechnical regime of genomic medicine in oncology. Unlike other regimes of genomic medicine that are organized around assessing and managing inherited risk for developing cancer (e.g. BRCA testing), actionable regimes aim to generate predictive relationships between genetic information and drug therapies, thereby generating new kinds of clinical actions. We explore how these genomic results are made actionable by articulating them with existing clinical routines, clinical trials, regulatory regimes, and health care systems; and in turn, how clinical sequencing programs have begun to reconfigure knowledge and practices in oncology. Actionability regimes confirm the emergence of bio-clinical decision-making in oncology, whereby the articulation of molecular hypotheses and experimental therapeutics become central to patient care. 相似文献
2.
A supervised genetics examination was administered to 76 obstetrics and gynecology (ob/gyn) residents from 15 different institutions in the Philadelphia area. The questions were specifically designed to be applicable to obstetrical practice. Overall, the mean score was 69% (range 32%-88%). Using the nonparametric Mann-Whitney rank sum test, we found that the 25 residents from institutions with an obstetrics-gynecology-genetics (OGG) program, coordinated by an obstetrician/gynecologist board certified in clinical genetics, had statistically significant higher scores than the remaining 51 residents from institutions without an OGG program (77% vs. 65%, respectively; P < .001). This study demonstrates that knowledge of genetics among residents in ob/gyn is deficient, especially among residents at institutions without OGG programs. Special efforts should be made to provide genetics education to these individuals. We propose that more obstetricians be encouraged to pursue postgraduate training in genetics in light of the rapid development of medical genetics; its application to prenatal screening, diagnosis, and counseling; the anticipated utilization of genetics services; and the need for educational initiatives geared toward ob/gyn patients. 相似文献
3.
Alan J. Terry 《Journal of mathematical biology》2010,61(6):843-875
We consider a model for a creature inhabiting two patches between which migration may occur. The creature is assumed to have
a life cycle with two stages, namely juvenile and adult, giving rise to a delay differential system. The creature could represent
an insect crop pest whilst the patches could represent neighbouring farms. Given that it is common to control crop pests by
adult impulsive culling, we impose an adult impulsive culling regime on each patch. We find conditions on the regimes such
that the pest will be eradicated on both patches simultaneously. The regime on one patch is assumed to be independent of the
regime on the other patch to reflect the possibility that the patches represent farms with different owners where each owner
has autonomy in their pest control decisions. In the special case where the birth functions on both patches are of an Allee
type, we calculate explicit finite upper bounds for the number of culls needed on each patch to guarantee eradication. Simulations
corroborate our theoretical results. 相似文献
4.
Psychiatric research is advancing rapidly, with studies revealing new investigative tools and technologies that are aimed at improving the treatment and care of patients with psychiatric disorders. However, the ethical framework in which such research is conducted is not as well developed as we might expect. In this paper we argue that more thought needs to be given to the principles that underpin research in psychiatry and to the problems associated with putting those principles into practice. In particular, we comment on some of the difficulties posed by the twin imperatives of ensuring that we respect the autonomy and interests of the research subject and, at the same time, enable potentially beneficial psychiatric research to flourish. We do not purport to offer a blueprint for the future; we do, however, seek to advance the debate by identifying some of the key questions to which better answers are required. 相似文献
5.
New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas. 总被引:3,自引:0,他引:3
Recent advances in the molecular genetic of adrenal tumors give new insights in the pathophysiology of these neoplasms in both hereditary and sporadic cases. The practice of genetic counselling in patients with adrenal tumors have been recently changed by the identification and the understanding of new specific hereditary cancer susceptibility syndromes. In the case of sporadic adrenocortical tumors these progress also offer new prognosis predictors.The genetic predisposition to adrenocortical cancer in children has been well established in the Li-Fraumeni and Beckewith-Wiedeman syndromes due to germline p53 mutation located at 17p13 and dysregulation of the imprinted IGF-2 locus at 11p15, respectively. Adrenocortical tumors are also observed in Multiple Endocrine Neoplasia type I syndrome. Cushing's syndrome due to primary pigmented nodular adrenocortical disease have been observed in patients with germline PRKAR1A inactivating mutations. Interestingly allelic loss at 17p13 and 11p15 have been observed in sporadic adrenocortical cancer and somatic PRKAR1A mutations in secreting adrenocortical adenomas. The potential interest of these finding for the diagnosis of these tumors will be discussed. In the case of pheochromocytoma and paraganglioma, the demonstration that three genes encoding three succinate dehydrogenase subunits (SDHD, SDHB, SDHC), belonging to the complex II of the respiratory chain in the mitochondria, are involved in the genetics of familial and especially in apparently sporadic phaeochromocytomas have dramatically modified our practice. Up to date, four diagnosis of familal disease (multiple endocrine neoplasia type II, von Hippel Lindau disease, neurofibromatosis type 1 and hereditary paraganglioma) should be discussed and causative mutations in six different phaechomocytoma susceptibility genes (RET, VHL, NF1, SDHB, SDHD, SDHC) could be identified. In this review, we will perform an update compiling these new clinical, genetic and functional data recently published. We will suggest guidelines for the practice of the phaeochomocytoma genetic testing in the patients and their families, and for an early detection of tumors in the patients or in individuals determined to be at-risk of disease by the presymptomatic genetic testing. 相似文献
6.
We investigated the effects of heat stress on the responsiveness to vibrational cues, our measure of perceptual ability, in Myrmeleon bore antlion larvae (Neuroptera: Myrmeleontidae). We reared these trap-building predatory larvae under 2 heat stress regimes (mild, 30°C, and harsh, 36°C), and after they progressed from one instar stage to another, we tested their perceptual ability in common unchallenging conditions. We hypothesized that exposure to the harsh heat stress regime would impose costs resulting in handicapped vibration responsiveness. We found that the harsh heat stress regime generated more stressful conditions for the larvae, as evidenced by increased mortality and postponed molting, and the loss of body mass among larger larvae. Furthermore, among the individuals who remained alive, those originating from the harsh heat stress regime were characterized by higher vibration responsiveness. Our results suggest 2 not mutually exclusive scenarios. Costly heat stress conditions can sieve out individuals characterized by poor perceptual ability or surviving individuals can attempt to hunt more efficiently to compensate for the physiological imbalance caused by heat stress. Both of these mechanisms fit into the ongoing debate over how adaptation and plasticity contribute to shaping insect communities exposed to heat stress. 相似文献
7.
There can be little doubt that genetics has transformed our understanding of mechanisms mediating brain disorders. The last two decades have brought tremendous progress in terms of accurate molecular diagnoses and knowledge of the genes and pathways that are involved in a large number of neurological and psychiatric disorders. Likewise, new methods and analytical approaches, including genome array studies and "next-generation" sequencing technologies, are bringing us deeper insights into the subtle complexities of the genetic architecture that determines our risks for these disorders. As we now seek to translate these discoveries back to clinical applications, a major challenge for the field will be in bridging the gap between genes and biology. In this Overview of Neuron's special review issue on neurogenetics, we reflect on progress made over the last two decades and highlight the challenges as well as the exciting opportunities for the future. 相似文献
8.
In the current era patient autonomy is enormously important. However, recently there has also been some movement back to ensure that trust in the doctor's skill, knowledge and virtue is not excluded in the process. These new nuances of informed consent have been referred to by terms such as beneficent paternalism, experience‐based paternalism and we would add virtuous paternalism. The purpose of this paper is to consider the history and current problematic nature of counselling and consent. Starting with the tradition founded by Hippocrates we trace and seek to understand how relevant aspects of the patient‐doctor relationship have evolved under the influences of subsequent moral theories. Finally we tentatively endorse certain modes of counselling in the current era in order to promote morally sound, good clinical practice. 相似文献
9.
ANNE DONCHIN 《Bioethics》2009,23(1):28-38
The recent case of the UK woman who lost her legal struggle to be impregnated with her own frozen embryos, raises critical issues about the meaning of reproductive autonomy and the scope of regulatory practices. I revisit this case within the context of contemporary debate about the moral and legal dimensions of assisted reproduction. I argue that the gender neutral context that frames discussion of regulatory practices is unjust unless it gives appropriate consideration to the different positions women and men occupy in relation to reproductive processes and their options for autonomous choice. First, I consider relevant legal rulings, media debate, and scholarly commentary. Then I discuss the concept of reproductive autonomy imbedded in this debate. I argue that this concept conflates informed consent and reproductive autonomy, thereby providing an excessively narrow reading of autonomy that fails to give due regard to relations among individuals or the social, political and economic environment that shapes their options. I contrast this notion of autonomy with feminist formulations that seek to preserve respect for the agency of individuals without severing them from the conditions of their embodiment, their surrounding social relationships, or the political contexts that shape their options. Taking these considerations into account I weigh the advantages of regulation over the commercial market arrangement that prevails in some countries and suggest general guidelines for a regulatory policy that would more equitably resolve conflicting claims to reproductive autonomy. 相似文献
10.
Despite a growing personal genomics market, little is known about how people engage with the possibilities offered by direct-to-consumer (DTC) genetic testing. In order to help address this gap, this study deploys narrative analysis of YouTube videos posted by individuals who have purchased DTC genetic testing for disease. Genetic testing is said to be contributing to new states of illness, where individuals may become “patients-in-waiting.” In the videos analyzed, we found a new form of storytelling about this ambiguous state of illness, which we refer to as autobiology. Autobiology – the study of, and story about, one's own biology – concerns narratives of sense-making through forms of biological practice, as well as wayfaring narratives which interweave genetic markers and family histories of disease. These autobiologies – part of a broader shift toward public stories about genetics and other healthcare technologies – exhibit playfulness, as well as being bound with consumerist practices. 相似文献
11.
Genetics and prevention: a policy in the making 总被引:1,自引:0,他引:1
This article explores the process through which the advances of genetic research are incorporated into public health care in Denmark. Drawing on ethnographic fieldwork in cancer genetic counselling, the implementation of new medical advances is investigated by following the establishment of a policy on informing relatives at risk of hereditary cancer. This case material provides the occasion to examine how policies are shaped in a governmental process through which different actors seek to establish a common goal for a specific health practice. The struggle to define such a goal implies a struggle to define where to draw the line between health and disease and what makes up a healthy person in the context of genetic knowledge. The authors argue that in the process of establishing a policy in the field of cancer genetics the imperative of prevention comes to provide the framework within which an ethics of rights and responsibilities is constituted and the target group of cancer genetic counselling defined. This ethics is not determined by or inherent in genetic technology itself, but constituted in a social process and therefore negotiated within pre-existing frameworks of understanding in professional practice. 相似文献
12.
Hong Li 《Theorie in den Biowissenschaften》2013,132(1):1-16
The systems genetics is an emerging discipline that integrates high-throughput expression profiling technology and systems biology approaches for revealing the molecular mechanism of complex traits, and will improve our understanding of gene functions in the biochemical pathway and genetic interactions between biological molecules. With the rapid advances of microarray analysis technologies, bioinformatics is extensively used in the studies of gene functions, SNP–SNP genetic interactions, LD block–block interactions, miRNA–mRNA interactions, DNA–protein interactions, protein–protein interactions, and functional mapping for LD blocks. Based on bioinformatics panel, which can integrate “-omics” datasets to extract systems knowledge and useful information for explaining the molecular mechanism of complex traits, systems genetics is all about to enhance our understanding of biological processes. Systems biology has provided systems level recognition of various biological phenomena, and constructed the scientific background for the development of systems genetics. In addition, the next-generation sequencing technology and post-genome wide association studies empower the discovery of new gene and rare variants. The integration of different strategies will help to propose novel hypothesis and perfect the theoretical framework of systems genetics, which will make contribution to the future development of systems genetics, and open up a whole new area of genetics. 相似文献
13.
Verkerk M 《Bioethics》1999,13(3-4):358-368
In the Netherlands there is a growing debate over the possibility of introducting 'compassionate interference' as a form of good psychiatric care. Instead of respecting the autonomy of the patient by adopting an attitude of non-interference, professional carers should take a more active and commited role. There was a great deal of hostile reaction to this suggestion, the most commonly voiced criticism being that it smacked of 'modern paternalism'. Still, the current conception of care leaves us with a paradox. On the one hand patients are regarded as individuals who have a strong interest in ( and a right to) freedom and non-interference; on the other hand many of them have a desperate need for flourishing, viable relationships. In fact, part of their problem is that they cannot relate very well with other people. This creates a dichotomy, because respecting patients' autonomy often means that they cannot be given the help they so desperately need. In this respect current care practices do not answer the caring needs of these patients.The criticism on care practices is to be considerd as important. It invites us to reexamine and reevaluate the current conception of caring relationships and its main values. In line with this reexamination an alternative perspective on care is introduced in this paper, a perspective in which `compassionate interference' is not so much a threat to autonomy, but a means of attaining autonomy. For this we need a different definition of autonomy than that commonly used in current care practice. 相似文献
14.
In this paper, we proposed an efficient immunization—“high-risk immunization”. The standard SIRS model was modified, respectively, on WS small-world network and BA scale-free network. Based on our new SIRS model, the density of infected individuals was analyzed from a theoretical point of view, and computer simulation was implemented on different networks. The results indicate that the high-risk immunization is effective, and it is economic and feasible in practice. 相似文献
15.
Kaluski E Cotter G Petrov O Avidov A Krakover R 《International journal of cardiovascular interventions》1998,1(2):87-92
Our objective was to evaluate the current trends of coronary angioplasty periprocedural care in the state of Israel. PTCA technology has undergone through some major developments and refinements, which have yielded new algorithms and routines. With this shift of paradigms, some of the periprocedural routines (these include medications and dosing before, during and after the procedure, as well as the handling of anti-coagulation, femoral sheath removal and the extent of patient monitoring post-PTCA) have been partially re-established. In order to assess trends in periprocedural care, we elected to analyze the current state of practice in the state of Israel. A questionnaire was sent to every cardiac catheterization laboratory in Israel that performs PTCA. An authorized senior cardiologist representing the laboratory submitted the information required for our survey. A nurse-to-nurse telephone questionnaire was conducted simultaneously to cross-examine the validity of the data. All centers submitted results. The average heparin dose for PTCA varied between 5000 and 15 000 units, ACT was monitored routinely by some and not at all by others, post-PTCA heparin administration was routinely administered by some institutions and not by others, and the mean femoral sheath dwell time ranged from 4 to 18 h. Post-PTCA cardiac monitoring varied from 6 to more than 24 h. Some institutions prescribed to all patients nitrates, calcium channel blockers and low-molecular-weight heparin, while others did not. We conclude that there is profound variability in the periprocedural routines that may translate into a significant cost increase, patient discomfort, a prolonged monitoring and hospital stay, and potential patient morbidity. We suggest that these routines should be critically evaluated, and that if they do not contribute to the procedural success and patient well-being they should be abandoned. 相似文献
16.
A useful concept that can be invoked to resolve complex bioethical issues is that of moral status (or, human dignity). In this article, we apply this concept to dead human bodies in order to support our view that research on such bodies is permissible. Instead of drawing from salient Western theories of human dignity that account for it by appeals to autonomy or rationality, we will base our investigation on emerging conceptions in African theories of moral status as articulated by Thaddeus Metz and Munamato Chemhuru. Our conclusion is that neither of these theories of moral status, one secular, and the other religious, can accommodate the intuition that we have direct duties of respect towards such bodies because, in relation to Metz's conception, they lack the capacity to enter into social relationships while on Chemhuru's conception, dead bodies appear not to have any meaningful purpose within the hierarchy that captures the ontological systems that determine such status. Consequently, we argue that our analysis provides support for the use of unclaimed cadavers in training and research in medical institutions. 相似文献
17.
随着全国“卓越农林人才教育培养计划”的开展,我校动物科学专业设置了“卓越班”,以突出培养学生的系统思维和创新创业能力为目标开展了系列教育教学管理和课程改革。为此,我们以“鸡快、慢羽性状”为实验对象,设计了“鸡快慢羽性状遗传学基础分析”综合实验,突出培养学生用理论知识解决生产实践问题的思维和能力。本文重点介绍了该实验作为动物遗传学实验教学案例的实施过程及效果,首先从鸡的表型观察逐步深入到遗传学基础分析,利用遗传学理论指导鸡快、慢羽品系培育的育种实践。实验内容涉及伴性遗传规律和性别决定机制等遗传学理论知识,同时还涉及基因组DNA提取、基因扩增、酶切及电泳分析等一系列分子遗传学的技术方法。不仅有利于学生综合分析能力和专业技能的掌握,还有助于培养学生对动物科学专业的科研兴趣和创新意识。此综合性实验还展现了用遗传学理论指导动物品种培育实践过程,符合动物科学专业复合应用型人才培养目标的要求,其中的教学理念和方法可推广应用于其他生物学实验教学。 相似文献
18.
In species with restricted dispersal, traits may become genetically fixed leading to local adaptations. Therefore, predator
avoidance in a prey species may differ between populations experiencing different predator regimes, but also between sexes
within a population due to different vulnerability to predators. In this study we used male and female Gammarus pulex from two different predator regimes: fishless ponds, where invertebrates are the dominant predators and ponds with predatory
fish. In the laboratory we examined refuge use, mortality, leaf decomposition rate and pair-formation in G. pulex when exposed to predator cues from either invertebrate predators or fish. Individuals from fish ponds spent more time in
refuge and had a higher mortality than those from fishless ponds independent of predator cues. There was no effect of pond
predator regime or predator cues on leaf decomposition rates. Further, fewer individuals formed pairs in G. pulex from fish ponds than from fishless ponds. Male G. pulex had a higher mortality and a higher decomposition rate than females independent of predator cues. However, there was no difference
in refuge use between sexes. Our study shows that there are general differences in behaviour traits, both between predator
regimes and sexes in G. pulex. 相似文献
19.
Matteo Fumagalli 《PloS one》2013,8(11)
Next-Generation Sequencing (NGS) technologies have dramatically revolutionised research in many fields of genetics. The ability to sequence many individuals from one or multiple populations at a genomic scale has greatly enhanced population genetics studies and made it a data-driven discipline. Recently, researchers have proposed statistical modelling to address genotyping uncertainty associated with NGS data. However, an ongoing debate is whether it is more beneficial to increase the number of sequenced individuals or the per-sample sequencing depth for estimating genetic variation. Through extensive simulations, I assessed the accuracy of estimating nucleotide diversity, detecting polymorphic sites, and predicting population structure under different experimental scenarios. Results show that the greatest accuracy for estimating population genetics parameters is achieved by employing a large sample size, despite single individuals being sequenced at low depth. Under some circumstances, the minimum sequencing depth for obtaining accurate estimates of allele frequencies and to identify polymorphic sites is , where both alleles are more likely to have been sequenced. On the other hand, inferences of population structure are more accurate at very large sample sizes, even with extremely low sequencing depth. This all points to the conclusion that under various experimental scenarios, in cost-limited population genetics studies, large sample sizes at low sequencing depth are desirable to achieve high accuracy. These findings will help researchers design their experimental set-ups and guide further investigation on the effect of protocol design for genetic research. 相似文献
20.
Genetic counselling is a medical action which must be carried out by a M.D. specialized in genetics. Genetic counselling is peculiar in that couples rather than individuals are involved. Furthermore it is not concerned with the health of the consultants but with that of their expected children. Genetic counselling is not restricted to the statistical estimation of a risk; it raises important problems of psychology and behaviour. Finally, eugenic considerations about the diffusion of deleterious genes should not be taken into account in genetic counselling, which is given in the interest of individuals, not of the society. The increasing demand for genetic counselling is due to the change of the reproductive pattern. People do not want only to fix the size of their family, but also to avoid any accident of procreation. 相似文献