Ethical issues raised by genetic testing with oligonucleotide microarrays

Because genes and alterations within them determine the identity, characteristics, and inheritance of every individual, the application of genetic science to humans has long been surrounded by apprehension, controversy, and real or perceived potential for abuse. Crude eugenics practices of the past now find a theoretical rebirth and transformation through the use of modern molecular genetic technologies for mutation detection, predictive and prenatal diagnosis, and, ultimately, gene replacement. The advent of oligonucleotide microarray analysis, in which hundreds or thousands of genes and mutations can be tested in parallel, offers tremendous promise for more accurate, sensitive, and efficient genetic testing. At the same time, however, this powerful technology dramatically increases the number and scope of ethical concerns accompanying each individual test request. This article considers the evolution and implications of these concerns, from the initial ordering of a microarray test by the physician to such issues as informed consent, privacy, confidentiality, clinical utility, discrimination, stigmatization, ethnic and population impact, and reimbursement.     

A randomized trial of genetic information for personalized nutrition

Personal genetic information has become increasingly accessible to the public as a result of direct-to-consumer (DTC) genetic tests; however, concerns have been raised over their value and potential risks. We compared the effects of providing genotype-based dietary advice with general recommendations on behavioral outcomes using a randomized controlled study. Participants were men and women from the Toronto Nutrigenomics and Health Study between the ages of 20–35 years (n = 149) who completed a survey to assess their awareness of DTC genetic tests and nutrigenomics, as well as potential motivations for undergoing genetic testing. Participants were then randomized into an intervention (I) or control (C) group and were given either genotype-based personalized dietary advice or general dietary advice, respectively. A second survey was administered to assess the participants’ opinions of the dietary reports they received. A greater proportion of participants in the intervention group agreed that they understood the dietary advice they were given (93% (I) vs. 78% (C); p = 0.009). Participants in the intervention group were more likely to agree that the dietary recommendations they received would be useful when considering their diet (88% (I) vs. 72% (C); p = 0.02) and wanted to know more about the recommendations (95% (I) vs. 76% (C); p < 0.0001). Only 9% of participants in the intervention group reported feeling uneasy about learning their genetic information. These findings suggest that individuals find dietary recommendations based on genetics more understandable and more useful than general dietary advice. Very few feel uneasy about receiving their genetic information that relates to personalized nutrition.     

A genetic risk tool for obesity predisposition assessment and personalized nutrition implementation based on macronutrient intake

There is little evidence about genetic risk score (GRS)–diet interactions in order to provide personalized nutrition based on the genotype. The aim of the study was to assess the value of a GRS on obesity prediction and to further evaluate the interactions between the GRS and dietary intake on obesity. A total of 711 seekers of a Nutrigenetic Service were examined for anthropometric and body composition measurements and also for dietary habits and physical activity. Oral epithelial cells were collected for the identification of 16 SNPs (related with obesity or lipid metabolism) using DNA zip-coded beads. Genotypes were coded as 0, 1 or 2 according to the number of risk alleles, and the GRS was calculated by adding risk alleles with such a criterion. After being adjusted for gender, age, physical activity and energy intake, the GRS demonstrated that individuals carrying >7 risk alleles had in average 0.93 kg/m² of BMI, 1.69 % of body fat mass, 1.94 cm of waist circumference and 0.01 waist-to-height ratio more than the individuals with ≤7 risk alleles. Significant interactions for GRS and the consumption of energy, total protein, animal protein, vegetable protein, total fat, saturated fatty acids, polyunsaturated fatty acids, total carbohydrates, complex carbohydrates and fiber intake on adiposity traits were found after adjusted for confounders variables. The GRS confirmed that the high genetic risk group showed greater values of adiposity than the low risk group and demonstrated that macronutrient intake modifies the GRS association with adiposity traits.

Electronic supplementary material

The online version of this article (doi:10.1007/s12263-014-0445-z) contains supplementary material, which is available to authorized users.     

Ethical issues in the diagnostic genetic testing process

The diagnostic genetic testing process has certain unique ethical features and deserves special consideration. The purpose of this study was to determine through empirical research, using focussed interview, what ethical issues are involved in the diagnostic genetic testing process. This article describes views and perceptions of adult patients, parents of child patients and various personnel groups (n=30). The ethical issues were analysed classified into three main categories: a) personnel characteristics, including personality, professional skills, morals and values; b) realization of ethical principles in the examination process, with subcategories of knowledge, autonomy, data protection and equity; and c) consequences of genetic testing, including patients' control over their own lives, manifestation of heterogeneity and outlook on the world. Problematic ethical issues in all three main categories were described in a more many-sided way by parents and personnel than by adult patients. In the future, attention should be paid to the content areas highlighted by the study, in both clinical practice and further studies.     

Prediction of personalized drugs based on genetic variations provided by DNA sequencing technologies

Recent reports of death and illness caused by adverse drug reactions have boosted rational drug design research. It has been shown through sequencing of the entire human genome that human genetic variations play a key role in adverse reactions to drugs as well as in differences in the effectiveness of drug treatments. The advent of high-throughput DNA sequencing technologies with bioinformatics of system biology have allowed the easy identification of genetic variations and all other pharmacogenetic variants in a single assay, thus permitting truly personalized drug treatment. This would be particularly valuable for many patients with chronic diseases who must take many medications concurrently. In this review, we have focused on pharmacogenomics for the prediction of variable drug responses between individuals with relevant genetic variations through new DNA sequencing technologies and provided directions for personalized drug therapy in the future.     

Some ethical issues raised by studies of predation and aggression

This paper discusses some of the ethical issues raised by studies of predator-prey and aggressive interactions when these involve artificially-staged encounters. Such experiments call for special care in ensuring that a maximum of information is gained and a minimum of suffering caused. On the one hand, we should consider critically the theoretical importance of the question at issue, make sure that the behaviour is recorded accurately and explore the possibility of collaborative experiments. On the other hand, field studies of natural encounters should be used wherever possible. Where staged encounters are necessary, the use of model predators should be considered, the number of subjects kept to a minimum and the experiments made as short as possible.     

GST among issues raised during CMA workshop on political lobbying

A recent CMA-sponsored workshop on political lobbying attracted many more physicians than anticipated. Dr. Bill Acker, chair of the Political Action Committee, said this is a sign of physicians'' growing interest in lobbying and politics.     

Prediction model for knee osteoarthritis based on genetic and clinical information

Introduction  

Osteoarthritis (OA) is the most common bone and joint disease influenced by genetic and environmental factors. Recent association studies have uncovered the genetic factors behind OA, its susceptibility genes, which would enable us to predict disease occurrence based on genotype information. However, most previous studies have evaluated the effects of only a single susceptibility gene, and hence prediction based on such information is not as reliable. Here, we constructed OA-prediction models based on genotype information from a case-control association study and tested their predictability.     

Values at stake: autonomy, responsibility, and trustworthiness in relation to genetic testing and personalized nutrition advice

Personalized nutrition has the potential to enhance individual health control. It could be seen as a means to strengthen people’s autonomy as they learn more about their personal health risks, and receive dietary advice accordingly. We examine in what sense personalized nutrition strengthens or weakens individual autonomy. The impact of personalized nutrition on autonomy is analyzed in relation to responsibility and trustworthiness. On a societal level, individualization of health promotion may be accompanied by the attribution of extended individual responsibility for one’s health. This constitutes a dilemma of individualization, caused by a conflict between the right to individual freedom and societal interests. The extent to which personalized nutrition strengthens autonomy is consequently influenced by how responsibility for health is allocated to individuals. Ethically adequate allocation of responsibility should focus on prospective responsibility and be differentiated with regard to individual differences concerning the capacity of adults to take responsibility. The impact of personalized nutrition on autonomy also depends on its methodological design. Owing to the complexity of information received, personalized nutrition through genetic testing (PNTGT) is open to misinterpretation and may not facilitate informed choices and autonomy. As new technologies, personalized nutrition and PNTGT are subject to issues of trust. To strengthen autonomy, trust should be approached in terms of trustworthiness. Trustworthiness implies that an organization that develops or introduces personalized nutrition can show that it is competent to deal with both the technical and moral dimensions at stake and that its decisions are motivated by the interests and expectations of the truster.     

Consumers on the Internet: ethical and legal aspects of commercialization of personalized nutrition

Consumers often have a positive attitude to the option of receiving personalized nutrition advice based upon genetic testing, since the prospect of enhancing or maintaining one’s health can be perceived as empowering. Current direct-to-consumer services over the Internet, however, suffer from a questionable level of truthfulness and consumer protection, in addition to an imbalance between far-reaching promises and contrasting disclaimers. Psychological and behavioral studies indicate that consumer acceptance of a new technology is primarily explained by the end user’s rational and emotional interpretation as well as moral beliefs. Results from such studies indicate that personalized nutrition must create true value for the consumer. Also, the freedom to choose is crucial for consumer acceptance. From an ethical point of view, consumer protection is crucial, and caution must be exercised when putting nutrigenomic-based tests and advice services on the market. Current Internet offerings appear to reveal a need to further guaranty legal certainty by ensuring privacy, consumer protection and safety. Personalized nutrition services are on the borderline between nutrition and medicine. Current regulation of this area is incomplete and undergoing development. This situation entails the necessity for carefully assessing and developing existing rules that safeguard fundamental rights and data protection while taking into account the sensitivity of data, the risks posed by each step in their processing, and sufficient guarantees for consumers against potential misuse.     

利用C++ Builder实现肿瘤遗传信息数据库的查询和利用

利用C＋＋ Builder,Microsoft SQL Server 2000数据库和ADO控件构建了肿瘤遗传信息的查询系统。先在数据库中建立肿瘤的生物信息表,通过C＋＋ Builder编写代码,添加ADO控件及其属性设置实现数据库的访问和信息查询。     

Some ethical issues at the population level raised by 'soft' eugenics, euphenics, and isogenics.

It is argued that at the population level there are three central genetic developments raising ethical issues. The first is the emergence of 'soft' eugenics, due primarily to the increasing ability to detect carriers of genetic diseases, to monitor their pregnancies, and to provide the option to abort a fetus predisposed to major genetic disease. The second development is the recognition of the extent to which many serious diseases of adult life are due to a disturbance of ancient genetic homeostatic mechanisms due to changing life style, raising the question of whether a society that increasingly pays the medical bills should attempt to impose healthier standards of living on its members. Such an attempt at 'euphenics' may be thought of as the antithesis to eugenics. The third development relates to recognition of the need to regulate the size of the earth's population to numbers that can be indefinitely sustained; this regulation in a fashion (isogenic) that will preserve existing genetic diversity.