Rethinking the ethical principles of genomic medicine services.

Clinical genome and exome sequencing is currently used in only a small fraction of patients, yet large scale genomic initiatives are becoming more embedded in clinical services. This paper examines the ethical principles that should guide regulatory processes regarding consent and data sharing in this context. We argue that a genomic dataset administered by the health system carries substantial societal benefits, and that the collective nature of this initiative means that at least those patients who benefit from genome sequencing have an ethical obligation to share their health information. This obligation is grounded in considerations of fairness. Furthermore, we argue that the use of genomic data for the advancement of medical knowledge should be permitted without explicit consent and that international and other bodies should be granted access to these data, provided certain conditions are satisfied.

Implicancias jurídicas del vacío constitucional peruano frente a la manipulación genética / No disponible

La manipulación genética al actuar sobre el ADN, plantea problemas éticos; pero también genera consecuencias jurídicas para las que nuestra Constitución Política, como norma principal del ordenamiento jurídico no se encuentra preparada, existiendo un vacío que, eventualmente, haría permisible la vulneración de derechos fundamentales

The origin of the genetic engineering, a discipline that acts on DNA, problematic moral and ethical; but at the same time generate legal consequences for which our Constitution, as main standard of the legal system is not ready, exist a gap that, eventually, the violation of fundamental rights would be permissible

A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation.

Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether HCPs should recontact these former patients. We present some findings interrogating the views of patients (or parents of patients) with a rare or undiagnosed condition about how such recontacting might be organised ethically and practically. Forty-one interviews were analysed thematically. Participants suggested a 'joint venture' model in which efforts to recontact are shared with HCPs. Some proposed an ICT-approach involving an electronic health record that automatically alerts them to potentially relevant updates. The need for rigorous privacy controls and transparency about who could access their data was emphasised. Importantly, these findings highlight that the lack of clarity about recontacting is a symptom of a wider problem: the lack of necessary infrastructure to pool genomic data responsibly, to aggregate it with other health data, and to enable patients/parents to receive updates. We hope that our findings will instigate a debate about the way responsibilities for recontacting under any joint venture model could be allocated, as well as the limitations and normative implications of using ICT as a solution to this intractable problem. As a first step to delineating responsibilities in the clinical setting, we suggest HCPs should routinely discuss recontacting with patients/parents, including the new information that should trigger a HCP to initiate recontact, as part of the consent process for genetic testing.

Interdisciplinariedad y transdisciplinariedad en la genética médica

La Genética se ha nutrido de otras especialidades de las ciencias médicas y de las ciencias biológicas, físicas, químicas, sociales, psicológicas. Algunas especialidades han emergido de estas alianzas. De esta forma surgen la Citogenética, la Genética molecular, la Genética Bioquímica, la Genética Poblacional, entre otras; cada una se involucra de acuerdo a sus propios conceptos y métodos de investigación. En estos aspectos radica la interdisciplinariedad en las ciencias, en la existencia de puntos de contacto entre varias disciplinas, con participantes de diversas procedencias que contribuyen, desde la diversidad de su formación, a alcanzar objetivos comunes a todas las disciplinas involucradas.Otro concepto que es utilizado, en ocasiones indistintamente, es el de transdisciplinariedad, que nos guía hacia una comprensión del mundo desde la unidad del conocimiento. Existe transdisciplinariedad cuando se produce una completa integración teórica y práctica, cuando se genera nueva información acerca de la realidad de determinados fenómenos…(AU)

Salgen de Cuba: Una Red de Informática Provincial para Servicios Genéticos a Mujeres Embarazadas y Recién nacidos / Cubas Salgen: A Provincial Informatics Network for Genetic Services to Pregnant Women and Newborns

The Sancti Spíritus Provincial Medical Genetics Network has been using the Salgen IT platform since 2009 for health care, administrative and research activities concerning pregnant mothers and newborns. The network uses the national Infomed backbone to provide real-time connection between community-based polyclinics in primary health care and the Provincial Medical Genetics Reference Center. The platform has records for 23,025 pregnant women and sequential clinical data on genetic risk assessment in early pregnancy, first trimester ultrasound, sickle cell anemia screening, alpha-fetoprotein levels, cytogenetic antenatal diagnosis, second trimester ultrasound, delivery and newborn characteristics, neonatal metabolic screening, and infant clinical assessment. The system makes health care results immediately available and provides health alerts to enable timely preventive care for pregnant women. It also provides guidelines for processes and practices, and streamlines administrative and monitoring activities through statistical reports. The database generates indicators for assessing fetal growth and applies international standards for antenatal ultrasound quality control. Salgen provides a new source of information for medical research and knowledge management, and its use in this case fulfills Cuba's criteria for an integrated health services network(AU)

Ethical concerns about genetic testing and screening.

Many of the ethical concerns raised by genetic testing and screening relate to accuracy, cost, and confidentiality. Perhaps the most serious worry-one that is not without merit-is that the new genomics is a disguised version of the old eugenics. On balance, however, genetic testing and screening seem to be in society's best interests.

[Personalized medicine: expectations, disappointments and hopes].

Impressive advances in the studies of human genome, identification of mutant genes of hereditary diseases and candidate genes of many chronic multifactorial diseases (MFD) laid the foundation of molecular medicine. Its characteristic features, such as the focus on individual prophylactic care, give reason to consider it as personalized predictive medicine (PPM). The fundamental concept behind PPM comprises the notion of genetic passport and its methodological basis is genetic testing (GT). Recent progress in PPM has been achieved due to the introduction of comprehensive genomic screening of associations. At the same time, the contribution of known individual genes to the development of MFD appears to be relatively insignificant which does not allow to identify the main causes of MFD. It gave rise to some scepsis as regards the value of genome as a source of information for practical medicine. Possibilities for the improvement of GT and conditions for the introduction of the available data into clinical practice are discussed. The necessity to attract clinicians to the work on PPM is emphasized. The development of unified MFD gene panels for clinical application and software for the evaluation and interpretation of GT results for doctors and patients is an indispensable condition for the use of PPM knowledge in the healthcare practice. The importance of solution of relevant ethical, juridical, and social issues is underscored.

Ethical issues in genetics.

Genetic disorders are caused by abnormalities in genes and chromosomes and for the most part have implications for family members, affecting such matters as confidentiality and disclosure to third parties. Genetic testing can be not only diagnostic but also predictive, raising issues of the need for pre-test counselling, protection of children from unwanted testing, and most importantly, the imprecision of interpretation of future risk. The rise in availability of direct-to-consumer testing is a fresh cause for concern, as are the new possibilities in reproductive medicine. New technologies and the falling cost of whole genome sequencing ensure that ethics will be a prominent concern for clinical genetics.

Exceptional know how? Possible pitfalls of routinising genetic services.

Genetic testing practices are increasingly advancing clinical medicine. This process of 'routinisation of genetics' has been conceived as a medical and ethical problem mainly because of the assumption that non-geneticists might lack the necessary skills to provide these services. In particular, the relevant theoretical knowledge in clinical genetics is viewed as insufficient in general practitioners and physicians from other specialities. Empirical findings seem to indicate significant variations not only in theoretical but also in practical knowledge between geneticists and non-geneticists. Several fields of practical knowledge-regarding for example the focus of clinical action, the relevance of therapeutic action or the normative framework-can be identified that are or could be areas of conflict when the routinisation of genetic services proceeds. From an ethical point of view, these variations in know how and background are especially relevant whenever the respective genetic service is concerned with medical information of exceptional normative quality, such as, for example, in prenatal genetic screening and diagnosis of untreatable conditions. Here, the clinically acquired practical knowledge of the non-geneticist could be particularly misleading insofar as there is no relation to therapy and-in a narrow sense-no clinical utility to be assessed. Non-geneticists need a chance to acquire the relevant theoretical and practical knowledge in order to understand and fulfil their own duties in the respective situations in a way that secures the important rights at stake of their patients and clients.

[Direct-to-consumer genetic testing also in our country]. / Genetické testování zpusobem DTC i v nasich krajích.

The main features of direct-to-consumer (DTC) genetic testing suffers from the loss of personal contact between a client and a genetic consultant, who is apt to assess the usefulness of genetic testing and to interpret results of genetic tests and who is also sufficiently trained to provide professional way of consultation. Laboratories offering these services often inform clients by phone, and neglect their identification - the samples examined may be anonymous. Also samples from children are accepted for testing. Quality control is not mandatory and laboratory genetic testing is not a licenced business in the Czech Republic. Because of these problems, which are not specific to our situation, but rather global, the possibility of the ban concerning these activities is being discussed in several European countries.

Practice and public policy in the era of gene-environment interactions.

This chapter argues that implications of the gene-environment interaction revolution for public policy and practice are contingent on how the findings get framed in public discourse. Frame analysis is used to identify the implications of the ways in which findings are cast. The frame of 'defective group' perpetuates racial and class stereotypes and limits policy efforts to redress health disparities. Furthermore, empirical evidence finds it inaccurate. The frame of'defective gene' precludes the adaptive genetic significance of genes. The frame of 'individual genetic profile' offers individualized health care but risks misapplication in policies that place responsibility for disease prevention on the individual to the policy relief of industry and toxic environments. Framing the interaction in terms of 'defective environments' promotes the identification of harmful environments that can be regulated through policy. The 'therapeutic environment' frame offers hope of discovering interventions that have greater precision and effectiveness but risks dis-incentivizing the pharmaceutical industry from discovering drug treatments for 'obscure' gene-environment match groups. Can a more accurate and helpful framing of the gene-environment interaction be identified? Findings that genes shape environments and that environments alter the gene pool suggest a more textured and symbiotic relationship that is still in search of an apt public framing.

Ethical and legal issues in nutritional genomics.

Advances in the ability to study how common variations in genes affect the metabolism of drugs and foods suggest that genetic information about individuals is of increasing relevance to clinical practitioners, including registered dietitians. The acquisition, storage, and use of genetic information in nutrition counseling will pose difficult ethical and legal questions involving the maintenance of confidentiality, the right to privacy, and the risks of discrimination in decisions about insurance coverage and employment. In addition, genetic analysis of children poses new questions about the limits of parental authority. Although the field of nutritional genomics is in its infancy, it is appropriate for registered dietitians to begin now to fashion a code of conduct about the proper use of genetic information. Relevant legal topics, such as federal and state legislation and judicial decisions, are discussed.

[The brave new world of prevention? On the prerequisites and scope of public health genetics]. / Schöne neue Welt der Prävention? Zu Voraussetzungen und Reichweite von Public Health Genetics.

Recent developments in molecular genetics and genomics have not only provided new insights into the biological foundation of life but have also brought about significant changes in the ways health and disease are understood. Nowadays, understanding how the human genome interacts with health-related behaviour and diverse environments is recognised to be the key for biomedical innovation. Even though advances in genetics and genomics have unveiled a whole new complexity of the genetic underpinnings of health and disease and clearly show the need for further investigation, studies of health-related genetic traits already give rise to novel approaches to prevention. As a relatively new fieldPublic Health Genetics is striving for the integration of genetic knowledge into strategies of prevention and for the translation of genomics into novel tools for public health. Translational research in this field is in its very early stages. The rise of public health genetics together with the relative predictive power of genetic information urges us to address the fundamental social, economical and ethical issues of public health genetics. This study analyses the scientific venture points and the larger framework of the implementation of strategies of public health genetics. The applicability of predictive and preventive measures of public health genetics are scrutinised with regard to their effect on both public and individual health. A major focus is on the economical, social and ethical challenges arising from any implementation of public health genetics. The guiding principle of our analysis is the (improvement of) social achievability of health as a measure for successful innovation of health care and prevention.

Genetic research and genetic information: a health information professional's perspective on the benefits and risks.

BACKGROUND: The completion of the Human Genome Project, and recent breakthroughs in identifying the genes both directly responsible for and contributing to the severity of specific diseases and disabilities in humans offer great potential for future health care. AIM: The aim of the paper is to inform the health information community of these developments in order to foster debate over their wide-reaching implications. METHODS: The article outlines recent research in this area and explains how our growing understanding opens the way for improved diagnosis of disease, detection of possible predisposition to specific diseases, the interaction between genetics and environmental aspects such as diet, as well as enabling gene therapy and preventative actions. This new knowledge also opens the way for the use of pharmacogenetic information to enhance the efficacy of pharmaceuticals and to avoid toxic reactions. RESULTS: These advances have significant social, legal and ethical implications. Most countries have limited legislative control over the use and protection of genetic information about individuals. CONCLUSION: There is a role for health information professionals to play in promoting wider public knowledge of genetic research and its implications, in fostering public debate on key issues, and in seeking clearer policies in the health sector concerning the use of genetic information about individuals.

Ethical issues in genetic testing.

Genetic factors contribute to risk for disease. Information clarifying risk in an individual and his/her family members can be identified through clinical screening and genetic testing. In some circumstances, this information can be used in clinical decisions about surveillance and prevention or treatment of disease. However, use of this information is not always a straightforward process. Application of knowledge about risk of genetic disease in provision of primary health care for women requires understanding of new genetic discoveries as well as the ability to participate in resolution of ethical dilemmas that may result when genetic screening and testing are considered. These dilemmas arise not only from the current state of knowledge about genetic risk factors and utility of genetic tests but also result from conflicts that can arise when the needs of the client are not in unison with needs of others within the family or society. Ethical theories and principles provide a framework for resolving ethical dilemmas in maternal screening for genetic conditions during a pregnancy, carrier testing prior to or during a pregnancy, clinical genetic testing, and newborn metabolic screening.