With an empirical ethics program addressing the key ethical and social issues raised by genomics research (and its applications), such as pharmacogenomics, nutrigenomics and agrigenomics, the OMICS-ETHICS Research Group at the University of Montreal performs high-quality research and knowledge transfer... Read more

With an empirical ethics program addressing the key ethical and social issues raised by genomics research (and its applications), such as pharmacogenomics, nutrigenomics and agrigenomics, the OMICS-ETHICS Research Group at the University of Montreal performs high-quality research and knowledge transfer in an international context. Omics is a neologism referring to a broad field of inquiry in applied bioscience that employs the high throughput biomarker technologies (e.g., genomics, metabolomics) integratively, for example, in pharmaceutical research (pharmacogenomics), nutrition science (nutrigenomics) and agricultural research (agrigenomics). The overarching goal is to mechanistically analyze the relationships between phenotypic variation (e.g., disease susceptibility, response to drugs and food) with variation in various biological information domains such as in the human genome; some etymological analysis suggests that the suffix "ome" is derived from the Sanskrit OM referring to "completeness and fullness". With computational biology and bioinformatics tools that allow to analyze and interpret large scale omics datasets, omics bioscience research and its attendant social and ethical corollaries gain substantial significance. The OMICS-ETHICS is the study of ethical and social aspects of OMICS research and their diverse application contexts.

While 'omics' technologies are increasingly adopted, their research, clinical and environmental applications face important ethical and social issues. Socio-ethical engagement with omics technologies is crucial because the study of ethical aspects could influence and shape the promotion of health and welfare of individuals in a more predictable and sustainable manner while these technologies and associated innovations develop, instead of waiting until the science has already set its course. This has the potential to contribute substantially more to society than what is achievable with post-hoc (i.e., after the fact) ethical inquiries. The OMICS-ETHICS Research Group aims (1) to lay an evidence-based empirical foundation that can both discern and anticipate the socio-ethical issues associated with -omics technologies and (2) to study the feasibility of developing tools that can provide appropriate guidance in ethics-related matters to stakeholders in omics research and its applications, in particular in the above sub-disciplines as well as in personalized health interventions. The increasing application of 'omics science and technologies' signals a need for major and complex policy changes that address ways to promote health and welfare of individuals and populations (including in developing countries and emerging economies) and make the technology available to all.

See our Research projects in pharmacogenomics, nutrigenomics and public health genomics.

Looking for useful and accessible information about ethics and omics sciences? Visit our RESOURCES section. We propose a selection of various publications relating to ethics & pharmacogenomics, ethics & nutrigenomics, and ethics & public health genomics.

An article by G. Gervasini, J. Benítez, and J.A. Carrillo published in Eur J Clin Pharmacol. 2010 (Aug.); 66(8): 755-74. Epub 2010 Jun 27.

Authors' abstract: Genetic factors contribute to the phenotype of drug response, but the translation of pharmacogenetic outcomes into drug discovery, drug development or clinical practice has proved to be surprisingly disappointing. Despite significant progress in pharmacogenetic research, only a few drugs... Read more

An article by G. Gervasini, J. Benítez, and J.A. Carrillo published in Eur J Clin Pharmacol. 2010 (Aug.); 66(8): 755-74. Epub 2010 Jun 27.

Authors' abstract: Genetic factors contribute to the phenotype of drug response, but the translation of pharmacogenetic outcomes into drug discovery, drug development or clinical practice has proved to be surprisingly disappointing. Despite significant progress in pharmacogenetic research, only a few drugs, such as cetuximab, dasatinib, maraviroc and trastuzumab, require a pharmacogenetic test before being prescribed. There are several gaps that limit the application of pharmacogenetics based upon the complex nature of the drug response itself. First, pharmacogenetic tests could be more clinically applicable if they included a comprehensive survey of variation in the human genome and took into account the multigenic nature of many phenotypes of drug disposition and response. Unfortunately, much of the existing research in this area has been hampered by limitations in study designs and the nonoptimal selection of gene variants. Secondly, although responses to drugs can be influenced by the environment, only fragmentary information is currently available on how the interplay between genetics and environment affects drug response. Third, the use of a pharmacogenetic test as a standard of care for drug therapy has to overcome significant scientific, economic, commercial, political and educational barriers, among others, in order for clinically useful information to be effectively communicated to practitioners and patients. Meanwhile, the lack of efficacy is in this process is quite as costly as drug toxicity, especially for very expensive drugs, and there is a widespread need for clinically and commercially robust pharmacogenetic testing to be applied. In this complex scenario, therapeutic drug monitoring of parent drugs and/or metabolites, alone or combined with available pharmacogenetic tests, may be an alternative or complementary approach when attempts are made to individualize dosing regimen, maximize drug efficacy and enhance drug safety with certain drugs and populations (e.g. antidepressants in older people).

An article by B.R. Jordan and D.F. Tsai published in J Med Ethics 2010 (Jul.); 36(7): 440-4. Epub 2010 Jun 16.

Authors' abstract: This paper examines some ethical issues arising from whole-genome association studies for multigenic diseases, focusing on the case of autism. Events occurring following the announcement of a genetic test for autism in France (2005-2009) are described to exemplify the ethical controversies that can arise when genetic test... Read more

An article by B.R. Jordan and D.F. Tsai published in J Med Ethics 2010 (Jul.); 36(7): 440-4. Epub 2010 Jun 16.

Authors' abstract: This paper examines some ethical issues arising from whole-genome association studies for multigenic diseases, focusing on the case of autism. Events occurring following the announcement of a genetic test for autism in France (2005-2009) are described to exemplify the ethical controversies that can arise when genetic testing for autism is applied prematurely and inappropriately promoted by biotech companies. The authors argue that genetic tests assessing one or a few genes involved in highly multigenic disorders can only be useful if: (1) the genetic linkage found in the scientific study must be statistically convincing, reproducible and also applicable to the population to which the individual considered belongs (scientific validity); (2) the relative risk conferred by the 'high-risk' allele should be high enough to be significant to the patient (significant impact); (3) use of the test should lead to some improvement of outcome for the patient, resulting from adapted treatment if available, or at least from adjustment of lifestyle (or life goals) prompted by the new knowledge generated (clinical utility). Decisions concerning genetic testing for autism involve scientific judgement, value judgement and good knowledge of a constantly evolving therapeutic environment. The implementation of genetic tests for highly multigenic diseases thus requires strong mechanisms to ensure that they are used in a fashion that can benefit patients, and these mechanisms must be able to cope with rapid progress in scientific knowledge and therapeutic intervention.

An article by A.A. Motsinger-Reif, E. Jorgenson, M.V. Relling, L.D. Kroetz, R. Weinshilboum, N.J. Cox, and D.M. Roden published in Pharmacogenet Genomics 2010 (Jul.) [Epub ahead of print]

Authors' abstract: OBJECTIVE: As genotyping technology has progressed, genome-wide association studies (GWAS) have matured into efficient and effective tools for mapping genes underlying human phenotypes. METHODS: Recent studies have shown the utility of the GWAS a... Read more

An article by A.A. Motsinger-Reif, E. Jorgenson, M.V. Relling, L.D. Kroetz, R. Weinshilboum, N.J. Cox, and D.M. Roden published in Pharmacogenet Genomics 2010 (Jul.) [Epub ahead of print]

Authors' abstract: OBJECTIVE: As genotyping technology has progressed, genome-wide association studies (GWAS) have matured into efficient and effective tools for mapping genes underlying human phenotypes. METHODS: Recent studies have shown the utility of the GWAS approach for examining pharmacogenomic traits, including drug metabolism, efficacy, and toxicity. RESULTS: Application of GWAS to pharmacogenomic outcomes presents unique challenges and opportunities. CONCLUSION: In the current review, we discuss the potential promises and potential caveats of this approach specifically as it relates to pharmacogenomic studies. Concerns with study design, power and sample size, and analysis are reviewed. We further examine the features of successful pharmacogenomic GWAS, and describe consortia efforts that are likely to expand the reach of pharmacogenomic GWAS in the future.

An article by M. Diamandis, N.M. White and G.M. Yousef published in Mol Cancer Res. 2010 (Aug.) [Epub ahead of print]

Authors' abstract: Personalized medicine (PM) is defined as "a form of medicine that uses information about a person's genes, proteins, and environment to prevent, diagnose, and treat disease." The promise of PM has been upon us for years. The suite of clinical applications of PM in cancer is broad, encompassing screeni... Read more

An article by M. Diamandis, N.M. White and G.M. Yousef published in Mol Cancer Res. 2010 (Aug.) [Epub ahead of print]

Authors' abstract: Personalized medicine (PM) is defined as "a form of medicine that uses information about a person's genes, proteins, and environment to prevent, diagnose, and treat disease." The promise of PM has been upon us for years. The suite of clinical applications of PM in cancer is broad, encompassing screening, diagnosis, prognosis, prediction of treatment efficacy, patient follow-up after surgery for early detection of recurrence, and the stratification of patients into cancer subgroup categories, allowing for individualized therapy. PM aims to eliminate the "one-size fits all" model of medicine, which has centered on reaction to disease based on average responses to care. By dividing patients into unique cancer subgroups, treatment and follow-up can be tailored for each individual according to disease aggressiveness and the ability to respond to a certain treatment. PM is also shifting the emphasis of patient management from primary patient care to prevention and early intervention for high-risk individuals. In addition to classic single molecular markers, high-throughput approaches can be used for PM including whole genome sequencing, single nucleotide polymorphism analysis, microarray analysis, and mass spectrometry. A common trend among these tools is their ability to analyze many targets simultaneously, thus increasing the sensitivity, specificity, and accuracy of biomarker discovery. Certain challenges need to be addressed in our transition to PM including assessment of cost, test standardization, and ethical issues. It is clear that PM will gradually continue to be incorporated into cancer patient management and will have a significant impact on our health care in the future.

A review by A.K. Daly published in Biochem J. 2010 (Jul.); 429(3): 435-49. Review.

Author's abstract: The term pharmacogenetics was first used in the late 1950s and can be defined as the study of genetic factors affecting drug response. Prior to formal use of this term, there was already clinical data available in relation to variable patient responses to the drugs isoniazid, primaquine and succinylcholine. The subject area developed rapidl... Read more

A review by A.K. Daly published in Biochem J. 2010 (Jul.); 429(3): 435-49. Review.

Author's abstract: The term pharmacogenetics was first used in the late 1950s and can be defined as the study of genetic factors affecting drug response. Prior to formal use of this term, there was already clinical data available in relation to variable patient responses to the drugs isoniazid, primaquine and succinylcholine. The subject area developed rapidly, particularly with regard to genetic factors affecting drug disposition. There is now comprehensive understanding of the molecular basis for variable drug metabolism by the cytochromes P450 and also for variable glucuronidation, acetylation and methylation of certain drugs. Some of this knowledge has already been translated to the clinic. The molecular basis of variation in drug targets, such as receptors and enzymes, is generally less well understood, although there is consistent evidence that polymorphisms in the genes encoding the beta-adrenergic receptors and the enzyme vitamin K epoxide reductase is of clinical importance. The genetic basis of rare idiosyncratic adverse drug reactions had also been examined. Susceptibility to reactions affecting skin and liver appears to be determined in part by the HLA (human leucocyte antigen) genotype, whereas reactions affecting the heart and muscle may be determined by polymorphisms in genes encoding ion channels and transporters respectively. Genome-wide association studies are increasingly being used to study drug response and susceptibility to adverse drug reactions, resulting in identification of some novel pharmacogenetic associations.

An article by S. Dalal, M.D. Holmes, and R.S. Ramesar published in J Epidemiol Community Health 2010 (Jul.); 64(7): 585-6.

Authors' abstract: Human genomic studies have revolutionised science in high-income countries through large cohort studies (on the order of 100,000+ participants) which examine a multitude of risk factors. Yet Africa, with the most genetically diverse population in the world, large burdens of communicable and non-communicable di... Read more

An article by S. Dalal, M.D. Holmes, and R.S. Ramesar published in J Epidemiol Community Health 2010 (Jul.); 64(7): 585-6.

Authors' abstract: Human genomic studies have revolutionised science in high-income countries through large cohort studies (on the order of 100,000+ participants) which examine a multitude of risk factors. Yet Africa, with the most genetically diverse population in the world, large burdens of communicable and non-communicable diseases, and unique environments and risk factors, has no such large studies which comprehensively examine multiple interacting risk factors for disease. We argue that establishing such studies is overdue. Scientific discoveries from large cohort studies can drive innovation, foster training and local capacity building, and provide vital evidence for public health decision making. Furthermore, evidence from studies in Africa could provide insights to disease processes relevant to other populations around the globe. The enormous potential for genetic and epidemiologic discovery in Africa should not continue to go untapped. Combining powerful genomic tools with epidemiology through large cohort studies could dramatically advance public health in Africa.

An article by D. Schmitz published in J Med Ethics 2010 (Jul.) [Epub ahead of print]

Author's abstract: 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 clinica... Read more

An article by D. Schmitz published in J Med Ethics 2010 (Jul.) [Epub ahead of print]

Author's abstract: 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.

An article by J.M. O’Daniel published in the Journal of Genetic Counseling 2010 (Aug.); 19(4): 315-27.

Author's abstract: One of the major anticipated benefits of genomic medicine is the area of preventive medicine. Commercially available genomic profiling is now able to generate risk information for a number of common conditions several of which have recognized preventive guidelines. Similarly, family history assessment affords powerful healt... Read more

An article by J.M. O’Daniel published in the Journal of Genetic Counseling 2010 (Aug.); 19(4): 315-27.

Author's abstract: One of the major anticipated benefits of genomic medicine is the area of preventive medicine. Commercially available genomic profiling is now able to generate risk information for a number of common conditions several of which have recognized preventive guidelines. Similarly, family history assessment affords powerful health risk prediction based on the shared genetic, physical and lifestyle environments within families. Thus, with the ability to help predict disease risk and enable preemptive health plans, genome-guided preventive medicine has the potential to improve population health on an individualized level. To realize this potential, steps to broaden access to accurate genomic health information must be considered. With expertise in genetic science, risk assessment and communication, and a patient-centered practice approach, genetic counselors are poised to play a critical role in facilitating the incorporation of genomic health risks into the burgeoning field of genome-guided preventive medicine.

An article by M.R. Speicher, J.B. Geigl, and I.P. Tomlinson published in The Lancet Oncology, Early Online Publication, 26 May 2010; doi:10.1016/S1470-2045(09)70359-6

Authors' abstract: Genetic counselling is offered to patients with various hereditary cancers. At-risk family members can be identified by predictive testing and included in specifically designed screening and prevention programmes. Since genetic testing has far-reaching ethical and me... Read more

An article by M.R. Speicher, J.B. Geigl, and I.P. Tomlinson published in The Lancet Oncology, Early Online Publication, 26 May 2010; doi:10.1016/S1470-2045(09)70359-6

Authors' abstract: Genetic counselling is offered to patients with various hereditary cancers. At-risk family members can be identified by predictive testing and included in specifically designed screening and prevention programmes. Since genetic testing has far-reaching ethical and medical outcomes, it is usually done according to well-defined guidelines developed by medical societies, entailing extensive interaction between family members and medical health providers. This established procedure is now changing after three new developments. First, data from genome-wide association studies have identified many new loci in the human genome, which could moderately change cancer risk. Second, although inclusion of low-risk cancer genes in patients' risk assessments represents an unresolved challenge, several companies already offer such tests in a direct-to-consumer format over the internet. These tests shift control of genetic testing from medical professionals to individuals. Third, development of high-speed sequencing technologies multiplies available genomic data and enables rapid sequencing of entire human genomes at low costs. This innovation will pave the way for personalised genetics and new options for predictive testing. Here, we use the example of genetic counselling in colon cancer to describe how these developments will change genetic testing in families at risk of cancer and in the general population.

An article by G. Chilibeck, M. Lock and M. Sehdev published in Social Science & Medicine. In Press.

Authors' abstract: This paper draws on empirical findings from interview studies in the USA and Canada to interrogate the idea that expanding practices of genetic testing are likely to transform kin and family relations in fundamental ways. We argue that in connection with common adult onset disorders in which susceptibility genes with low predict... Read more

An article by G. Chilibeck, M. Lock and M. Sehdev published in Social Science & Medicine. In Press.

Authors' abstract: This paper draws on empirical findings from interview studies in the USA and Canada to interrogate the idea that expanding practices of genetic testing are likely to transform kin and family relations in fundamental ways. We argue that in connection with common adult onset disorders in which susceptibility genes with low predictive power are implicated it is unlikely that family relationships will be radically altered as a result of learning about either individual or family genotypes. Rather, pre-existing family dynamics and ideas about family susceptibilities for disease may be reinforced. The case of the ApoE gene and its relationship to Alzheimer’s disease is used as an illustrative example. We found that "postgenomic" thinking, in which complexity of disease causation is emphasized, is readily apparent in informant narratives.

An article by A.L. Beaudet published in Genome Med. 2010 (Jul.); 2(7): 42. [Epub ahead of print]

Author's abstract: The ethical issues surrounding genotyping for single nucleotide polymorphisms (SNPs) or for copy number variation (CNV) are very different. SNP genotyping can focus on ancestry, risk probability, single gene diagnosis, pharmacogenetics, and carrier testing, and the combination of these in a single test can present difficulties. The int... Read more

An article by A.L. Beaudet published in Genome Med. 2010 (Jul.); 2(7): 42. [Epub ahead of print]

Author's abstract: The ethical issues surrounding genotyping for single nucleotide polymorphisms (SNPs) or for copy number variation (CNV) are very different. SNP genotyping can focus on ancestry, risk probability, single gene diagnosis, pharmacogenetics, and carrier testing, and the combination of these in a single test can present difficulties. The interpretation of such tests, inconsistencies between laboratories, and access to genotype information for future reference need to be considered, as well as the value of genotypes of known clinical significance compared with those that provide modest risk modifications with limited potential to take medically useful steps. For CNV genotyping, the major concerns relate to CNVs of uncertain significance and to those with incomplete penetrance. Such CNVs present acute difficulties in counseling symptomatic and asymptomatic individuals and have substantial potential for stigmatization of both groups, as well as raising difficulties when detected in prenatal diagnosis. Improved prenatal diagnosis of many disorders provided by array tests compared with the traditional karyotype probably outweighs the uncertainties for families who would terminate pregnancies with findings associated with severe disabilities. There are substantive concerns about offering SNP or CNV genotyping direct to consumers without a physician or counselor to provide guidance for interpretation of the results.