Unidad, individualidad y unicidad de la persona en el balance riesgos/beneficios del uso de las pruebas nutrigenéticas en la práctica clínica / Unity, individuality and uniqueness of the person in the risk/benefit balance of the use of nutrigenetic tests in clinical practice / Unidade, individualidade e unicidade da pessoa no balanço de riscos/benefícios do uso das provas nutrigenéticas na prática clínica

Resumen: En los últimos años se han realizado estudios de asociación del genoma completo, con el objetivo de identificar variantes genéticas asociadas a la interindividualidad de la respuesta a tratamientos dietéticos para la pérdida de peso. Estos esfuerzos de la genómica nutricional contribuyen con los avances de la ciencia de la nutrición 4.0: preventiva, participativa, predictiva y personalizada. Sin embargo, aunque a la fecha se ha descubierto millones de polimorfismos en el genoma humano, estos hallazgos no indican que la presencia de estas variaciones determina un efecto sobre la salud del individuo. Por lo anterior, el uso del perfil nutrigenético para la pérdida de peso conduce a un análisis sobre riesgos y beneficios a la luz de los principios bioéticos centrados en la unidad, individualidad y unicidad de la persona humana. Así, con base en pensadores clásicos como Aristóteles y Tomás de Aquino, pero con la contribución de filósofos contemporáneos, como Robert Spaemman, se define a la persona como sustancia individual de naturaleza racional, desglosando las dimensiones fundamentales para demostrar, por argumentación, que el principio de individualidad no solo incluye la dimensión biológica (naturalismo materialista), sino la unidad de la persona perteneciente a la naturaleza humana.

Abstract: In recent years, whole genome association studies have been conducted to identify genetic variants associated with the interindividuality of response to dietary treatments for weight loss. These nutritional genomics efforts contribute to the advancement of nutrition science 4.0: preventive, participatory, predictive and personalized. However, although to date more than 85 million polymorphisms have been discovered in the human genome, these findings do not indicate that the presence of these variations determines an effect on a personal health. Therefore, the use of the nutrigenetic profile for weight loss leads to analyze the risks/benefits with the bioethical principles focused on the unity, individuality and uniqueness of the human person. Thus, based on classical thinkers such as Aristotle and Thomas Aquinas, but with the contribution of contemporary philosophers, such as Robert Spaemman, the person is defined as an individual substance of a rational nature, breaking down the fundamental dimensions to demonstrate, by argumentation, that the principle individuality not only includes the biological dimension (materialistic naturalism), but the unity of the person belonging to human nature.

Resumo: Nos últimos anos tem se realizado estudos de associação do genoma completo, com o objetivo de identificar variantes genéticas associadas à inter-individualidade da resposta a tratamentos dietéticos para a perda de peso. Esses esforços da genômica nutricional contribuem para os avanços da ciência da nutrição 4.0: preventiva, participativa, preditiva e personalizada. Sem dúvida, ainda que até hoje tenham sido descobertos milhões de polimorfismos no genoma humano, esses achados não indicam que a presença dessas variações determine um efeito sobre a saúde do indivíduo. Assim, o uso do perfil nutrigenético para a perda de peso conduz a uma análise sobre os riscos/benefícios à luz dos princípios bioéticos centrados na unidade, individualidade e unicidade da pessoa humana. Assim, com base em pensadores clássicos como Aristóteles e Tomás de Aquino, porém com a contribuição de filósofos contemporâneos como Robert Spaemman, define-se a pessoa como substância individual de natureza racional, separando as dimensões fundamentais para demostrar, por argumentação, que o princípio da individualidade não somente inclui a dimensão biológica (naturalismo materialista), como também a unidade da pessoa pertencente à natureza humana.

Ethical Aspects of Genotype Disclosure: Perceptions of Participants in a Nutrigenetic Study in Finland.

OBJECTIVE: The aim of this study was to gain insight into the understanding of genetics and perceptions on the ethical issues related to genotype disclosure of the participants in a nutrigenetic study. METHODS: A close-ended questionnaire was developed based on literature and discussions among the research group members. The questionnaire contained a -total of 33 questions, which were divided into 4 categories - demographics, knowledge assessment, concerns related to participation, and opinions on disclosure of information. Majority of the participants (250 out of 281) of a nutrigenetic study, in which effect of disclosing APOE allele status on lifestyle changes was studied, completed the questionnaire online following the informed consent process. The responses from the knowledge assessment and the concern categories were transformed into knowledge and concern scales, respectively, and analysed by descriptive statistical methods. The statistical associations between the categorical variables were determined using χ2 test of independence. The relationship between the continuous variables was assessed using Pearson product-moment correlation coefficient and internal consistency of questions by Cronbach's alpha. RESULTS: No correlation was observed between the level of education and knowledge scores. About 10% of the participants thought that the genetic predisposition would be stressful to them and their family members. CONCLUSIONS: Careful distribution of information before a nutrigenetic study supports understanding and reduces concerns of genetic susceptibility. In Finland, strong basic education is likely to have strengthened the trust in research process.

Brazilian Society for Food and Nutrition position statement: nutrigenetic tests

Position statement: The Brazilian Society for Food and Nutrition (SBAN) bases the following position statement on acritical analysis of the literature on nutritional genomics and nutrigenetic tests: (1) Nutrigenetic tests are predictive and not diagnostic, should not replace other evaluations required to treatment, and should only be used as an additional tool to nutritional prescription; (2) Nutritionists/registered dietitians and other health professionals must be able to interpret the nutrigenetic tests and properly guide their patients, as well as build their professional practice ongeneral ethical principles and those established by regulatory authorities; (3) It is extremely important to highlight that them is interpretation of nutrigenetic tests can cause psychological and health problems to the patient; (4) Currently, there is insufficient scientific evidence for the recommendation of dietary planning and nutritional supplementation based only on nutrigenetic tests. This position statement has been externally reviewed and approved by the board of SBAN and has not gone through the journal's standard peer review process.

Uninformed consent in nutrigenomic research.

Genetic testing for personalizing diet and wellness programs is performed without extensive counseling that informs about the potential implications of knowing one's genotype status. Genetic counseling seems redundant for genes that impact the effect of diet on biomarkers such as cholesterol and blood pressure, but the same genes may have pleiotropic effects that cannot be ignored. A well-known example is the APOE gene, which is implicated in cholesterol regulation and is a major risk factor for Alzheimer's disease. Not fully informing participants about the major pleiotropic effects of genes has ethical implications and invalidates informed consent.

Ethical considerations in the implementation of nutrigenetics/nutrigenomics.

Awareness of ethical issues that may be raised by the implementation of nutrigenetic/nutrigenomic (NGx) testing and personalized nutrition, at an individual or a public health level, is crucial to ensure the latter's sound and effective implementation. NGx tests that are currently offered or developed have different natures and scopes. We provide an example of NGx testing on the MTHFR gene to illustrate the current challenges when it comes to grasp the meaning of the results of such testing. In addition, NGx testing is developed within an evolving landscape of new genomic technologies and occurs at a time when public health policies mainly focus on preventive and predictive healthcare, with an emphasis on increased individual responsibility. The ethical issues raised by such a context and the genetic nature of NGx testing both should be carefully evaluated.

Guide and Position of the International Society of Nutrigenetics/Nutrigenomics on Personalized Nutrition: Part 2 - Ethics, Challenges and Endeavors of Precision Nutrition.

Nutrigenetics considers the influence of individual genetic variation on differences in response to dietary components, nutrient requirements and predisposition to disease. Nutrigenomics involves the study of interactions between the genome and diet, including how nutrients affect the transcription and translation process plus subsequent proteomic and metabolomic changes, and also differences in response to dietary factors based on the individual genetic makeup. Personalized characteristics such as age, gender, physical activity, physiological state and social status, and special conditions such as pregnancy and risk of disease can inform dietary advice that more closely meets individual needs. Precision nutrition has a promising future in treating the individual according to their phenotype and genetic characteristics, aimed at both the treatment and prevention of disease. However, many aspects are still in progress and remain as challenges for the future of nutrition. The integration of the human genotype and microbiome needs to be better understood. Further advances in data interpretation tools are also necessary, so that information obtained through newer tests and technologies can be properly transferred to consumers. Indeed, precision nutrition will integrate genetic data with phenotypical, social, cultural and personal preferences and lifestyles matters to provide a more individual nutrition, but considering public health perspectives, where ethical, legal and policy aspects need to be defined and implemented.

Position of the Academy of Nutrition and Dietetics: nutritional genomics.

It is the position of the Academy of Nutrition and Dietetics that nutritional genomics provides insight into how diet and genotype interactions affect phenotype. The practical application of nutritional genomics for complex chronic disease is an emerging science and the use of nutrigenetic testing to provide dietary advice is not ready for routine dietetics practice. Registered dietitian nutritionists need basic competency in genetics as a foundation for understanding nutritional genomics; proficiency requires advanced knowledge and skills. Unlike single-gene defects in which a mutation in a single gene results in a specific disorder, most chronic diseases, such as cardiovascular disease, diabetes, and cancer are multigenetic and multifactorial and therefore genetic mutations are only partially predictive of disease risk. Family history, biochemical parameters, and the presence of risk factors in individuals are relevant tools for personalizing dietary interventions. Direct-to-consumer genetic testing is not closely regulated in the United States and may not be accompanied by access to health care practitioners. Applying nutritional genomics in clinical practice through the use of genetic testing requires that registered dietitian nutritionists understand, interpret, and communicate complex test results in which the actual risk of developing a disease may not be known. The practical application of nutritional genomics in dietetics practice will require an evidence-based approach to validate that personalized recommendations result in health benefits to individuals and do not cause harm.

Are research papers reporting results from nutrigenetics clinical research a potential source of biohype?

Nutrigenetics is a promising field, but the achievability of expected benefits is challenged by the methodological limitations that are associated with clinical research in that field. The mere existence of these limitations suggests that promises about potential outcomes may be premature. Thus, benefits claimed in scientific journal articles in which these limitations are not acknowledged might stimulate biohype. This article aims to examine whether nutrigenetics clinical research articles are a potential source of biohype. Of the 173 articles identified, 16 contained claims in which clinical applications were extrapolated from study results. The methodological limitations being incompletely acknowledged, these articles could potentially be a source of biohype.

Coevolution of nutrigenomics and society: ethical considerations.

To optimize the coevolution of nutrigenomics and society (ie, the reciprocal stimulation of both developments), I analyzed chances for a fruitful match between normative concepts and strategies of both developments. Nutrigenomics embodies ≥ 3 normative concepts. First, food is exclusively interpreted in terms of disease prevention. Second, striving for health is interpreted as the quantification of risks and prevention of diseases through positive food-gene interactions. The third normative idea is that disease prevention by the minimization of risks is an individual's task. My thesis was that these concepts of nutrigenomics would not easily match with concepts of food and health of various food styles in Western societies, which, for instance, parents in the case of metabolic programming endorse and with a philosophical view of the relation between food, health, and the meaning of life. Next, I reflected on the nonsynchronized coevolution of nutrigenomics and society because of this mismatch and introduced the concept of the fair representation of food styles in nutrigenomic developments. To synchronize and optimize the coevolution of nutrigenomics and society, I propose that the research policy of nutrigenomics should change to a research partnership with society on the basis of fair representation.

Inclusion and exclusion in nutrigenetics clinical research: ethical and scientific challenges.

BACKGROUND/AIMS: There are compelling reasons to ensure the participation of ethnic minorities and populations of all ages worldwide in nutrigenetics clinical research. If findings in such research are valid for some individuals, groups, or communities, and not for others, then ethical questions of justice--and not only issues of methodology and external validity--arise. This paper aims to examine inclusion in nutrigenetics clinical research and its scientific and ethical challenges. METHODS: In total, 173 publications were identified through a systematic review of clinical studies in nutrigenetics published between 1998 and 2007. Data such as participants' demographics as well as eligibility criteria were extracted. RESULTS: There is no consistency in the way participants' origins (ancestry, ethnicity, or race) and ages are described in publications. A vast majority of the studies identified was conducted in North America and Europe and focused on 'white' participants. Our results show that pregnant women (and fetuses), minors, and the elderly (≥ 75 years old) remain underrepresented. CONCLUSION: Representativeness in nutrigenetics research is a challenging ethical and scientific issue. Yet, if nutrigenetics is to benefit whole populations and be used in public and global health agendas, fair representation as well as clear descriptions of participants in publications are crucial.

Learning from the past and looking to the future.

BACKGROUND/AIMS: Leaders in the fields of nutrigenomics/genetics can benefit from studying the ethical and social issues raised by comparable biomedical developments in the recent past and their consequences for science and society. METHODS: Experience with recombinant DNA research, beginning in the early 1970s, and its commercial application, and with pharamacogenetics/genomics, beginning two decades later, is analyzed. RESULTS: Particular lessons are drawn from both experiences. As to the first, the conclusions are to encourage open discussion among scientists of the possible negative or risky consequences of their research; not to conduct such discussions behind closed doors, so as to involve rather than to surprise the public; and to keep in mind the international characteristics of science but the domestic nature of the manner in which it is regulated. As to the second, the lessons are to beware of hype, avoid genetic determinism, take account of the problems raised by similarities to traditional genetic screening/testing, overcome the medical system's lack of preparation to use the new information, and recognize that differences in access may exacerbate inequities in health and health care. CONCLUSION: Awareness of these problems, which are likely to recur, can at least prepare those working in the field.

Future perspectives of nutrigenomics foods: benefits vs. risks.

Nutrigenomics, defined as the application of high-throughput genomics tools in nutrition research is now past its incubation phase. The poorly understood associations of diet and disease prevention in particular will likely be the single most important catalyst to its accelerated and continued growth. Whether the goal of matching foods to individual genotypes to improve the health of those individuals can be attained, and personalised nutrigenomic foods enter the world's food markets, depends on numerous hurdles being overcome: some scientific in nature, some' technical and others related to consumer, market or ethical issues. Public adoption of new technologies is an important determinant for their success. Many of the drivers behind the trend in personalisation of food are now known, particularly ethical, legal, and social issues (ELSI) are the major drivers. Future development in the field of nutrigenomics undoubtedly will place its seemingly huge potential in better perspective. From the scientific responsibility point of view, one hopes that the new perspectives to be gained and progress to be made in this field will be so managed as to take the public at large on board, if we are to avoid another nutrition education disaster of the genetically modified organism type and dimension.

Nutrigenomics patents and commercialization: old wine in a new bottle?

This paper looks at the ethical, legal, and social issues (ELSI) associated with commercialization and patenting through the lens of nutrigenomics. These are two areas have generated a great deal of ELSI literature, although very little specific to nutrigenomic research. Nutrigenomic researchers seem likely to face the same patent concerns as those associated with gene patents more generally--specifically, that patents will hurt research and the distribution and uptake of useful technologies. Likewise, there is concern that commercialization pressure will lead to the inappropriate and premature implementation of nutrigenomic services. This paper concludes that while the patenting issues do not seem unique or particularly worrisome in the context of nutrigenomics, the early commercialization of testing is cause for concern and worthy of careful policy consideration.

The good life: living for health and a life without risks? On a prominent script of nutrigenomics.

Like all scientific innovations, nutrigenomics develops through a constant interplay with society. Normative assumptions, embedded in the way researchers formulate strands of nutrigenomics research, affect this interplay. These assumptions may influence norms and values on food and health in our society. To discuss the possible pros and cons of a society with nutrigenomics, we need to reflect ethically on assumptions rooted in nutrigenomics research. To begin with, we analysed a set of scientific journal articles and explicated three normative assumptions embedded in the present nutrigenomics research. First, values regarding food are exclusively explained in terms of disease prevention. Health is therefore a state preceding a sum of possible diseases. Second, it is assumed that health should be explained as an interaction between food and genes. Health is minimised to quantifiable health risks and disease prevention through food-gene interactions. The third assumption is that disease prevention by minimisation of risks is in the hands of the individual and that personal risks, revealed either through tests or belonging to a risk group, will play a large role in disease prevention. Together, these assumptions suggest that the good life (a life worth living, with the means to flourish and thrive) is equated with a healthy life. Our thesis is that these three normative assumptions of nutrigenomics may strengthen the concerns related to healthism, health anxiety, time frames and individual responsibilities for health. We reflect on these ethical issues by confronting them in a thought experiment with alternative, philosophical, views of the good life.

Nutrition tailored to the individual? Not just yet - realigning nutrigenomic science with contemporary society.

About a decade ago, scientists and science journalists presented nutrigenomics as a grand promise that each of us would soon know which foods fit in our personal healthy diet. Meanwhile, expectations have been adjusted to fit a changed reality. Simultaneously, societal issues surrounding personalized nutrition continue to rise, including whether consumers need it, food industry can produce it, all relevant stakeholders are willing and able to work together, and if it is a desirable way to go for nutrition. The commentary below reports the main results of 6 research projects that focused on nutrigenomics and its role in society.

Nutrigenomics and ethics interface: direct-to-consumer services and commercial aspects.

A growing variety and number of genetic tests are advertised and sold directly to consumers (DTC) via the Internet, including nutrigenomic tests and associated products and services. Consumers have more access to genetic information about themselves, but access does not entail certainty about the implications of test results. Potential personal and public health harms and benefits are associated with DTC access to genetic testing services. Early policy responses to direct-to-consumer (DTC) genetic testing often involved calls for bans, and some jurisdictions prohibited DTC genetic tests. Recent policy responses by oversight bodies acknowledge expansion in the range of DTC tests available and suggest that a "one-size-fits-all" regulatory approach is not appropriate for all genetic tests. This review discusses ethical and regulatory aspects of DTC genetic testing, focusing particularly on nutrigenomic tests. We identify policy options for regulating DTC genetic tests, including full or partial prohibitions, enforcement of existing truth-in-advertising laws, and more comprehensive information disclosure about genetic tests. We advocate the latter option as an important means to improve transparency about current evidence on the strengths and limits of gene-disease associations and allow consumers to make informed purchasing decisions in the DTC marketplace.

Socio-ethical analysis of equity in access to nutrigenomics interventions for obesity prevention: a focus group study.

The goal of nutrigenomics is to develop nutritional interventions targeted to individual genetic make-up. Obesity is a prime candidate for nutrigenomics research. Personalized approaches to prevention of diseases associated with obesity may be available in the near future. Nevertheless, in the context of limited resources, access to a nutrigenomics personalized health service raises questions around equity. Using focus groups, the present qualitative research study provides empirical data on ethical concerns and values surrounding the nutrigenomics-guided personalized nutrition for obesity prevention. Eight focus groups were convened including 27 healthy individuals and 21 individuals who self-identified as obese or at risk of obesity. The transcripts of the focus group were analyzed according to the qualitative method of grounded theory. Responsibility, reciprocity, and solidarity emerged as the key ethical criteria perceived by the respondents to be significant in terms of how health professionals should determine access to personalized nutrition services. Still, exclusion of individuals from specific nutrigenomic services is likely to conflict with the imperatives of medical deontology and contemporary social consensus. The representation of equity in this paper is novel: it considers the intersection of nutrigenomics and personalized nutritional interventions specifically in the context of limited public resources for health services.