January 2014


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Last year was one of celebration in the field of human genetics research. It marked the 60th anniversary of the discovery of the structure of DNA and the 10th anniversary of the completion of the sequencing of the human genome. Never one to be left out of the action, Trinidad and Tobago is preparing to launch its first ever population-based genome wide association study (GWAS), only eight years after the first study of its kind was ever published. It is intended that this genetics study will form part of the National Eye Survey of Trinidad and Tobago (NESTT) which is designed to determine the distribution, causes and risk factors for loss of vision in our population, thereby providing information that can be used to better align health care resources to the areas of greatest need and maximum impact. Individuals who participate in the NESTT will have the opportunity to decide whether they also wish to participate in the genetics study, and by so doing contribute to new knowledge and the identification of genetic risk factors for eye disease and cardiovascular disease.

In 1953, Watson and Crick described the double-helical structure of DNA, the material carrying the genetic information that guides the development and functioning of every organism. DNA carries these instructions in the form of genes that are inherited from one generation to the next. The full complement of an organism’s hereditary information is called its genome. The discovery of the structure of DNA revolutionized biomedical research as it marked the beginning of our understanding of how genes work and how subtle variations in their structure account not only for the uniqueness of individuals, but also for a variety of disease conditions.

Following this milestone, genes and their different versions or “alleles” continued to be identified, enabling improvements in the diagnosis and treatment of a range of medical disorders. However, even as human genetic research made leaps and bounds, the functions of most genes remained unclear, and for many medical conditions that clearly have an underlying genetic component, pinning down the specific genes involved remained elusive. Even in the case of so-called “single-gene disorders,” like sickle cell disease, where an allele of a single gene was found to be directly related to an inheritable disease, the ability to predict disease prognosis proved challenging. Slowly but surely, it was realized that for the more common medical conditions and disease characteristics the scenario was much more complex. There was no simple one-to-one relationship between disease and gene. Instead it became clear that multiple genes were involved and that environmental factors also played a crucial role.

Advances in technologies used to analyse or “sequence” genes, eventually led to the complete sequencing of the human genome in 2003, fifty years after the discovery of the structure of DNA. This singular advancement led to the birth of human genomics, the study of the entire human genome, the interactions of genes with each other, and their interactions with the environment. Consequently scientists are now better positioned to tackle the problem of complex disorders.

Over the past decade, continued advances in human genetics research and a parallel explosion in both genomic sequencing technologies and the computational tools required to analyse the vast amount of data generated have deepened our current understanding of human health and revolutionized the field of medicine. There has been a marked improvement in our ability to diagnose diseases due to an increase in the identification of related genes as well as improvements in the ability to recognize individuals (and groups) at high risk for developing diseases. These in turn have led to targeted intervention strategies aimed at preventing disease, minimizing disease onset, and mitigating symptoms, as is the familiar case of breast cancer and BRCA1 gene.

As Trinidad and Tobago prepares to launch its first ever population-based GWAS and enter the next generation of human genetics and genomics research, we ask ourselves: Are we sufficiently prepared to conduct this type of research? Are we ready to deal with the ethical, legal and social issues that may arise?

First of all, human genetics research is by no means new to Trinidad and Tobago. Researchers at The UWI and other scientists have been contributing to the field from as early as the 1970s. A quick search of PubMed, a major database of scientific literature, will reveal at least 60 publications about human genetics studies conducted in Trinidad and Tobago. They cover subjects including patterns of inheritance, identification of candidate genes for common diseases, genetic epidemiology, genetic variation, and genomic science. Through this type of work, in addition to providing baseline information on human genetic variation in Trinidad and Tobago, UWI researchers have contributed towards the understanding of genetic factors underlying conditions such as diabetes, hypertension, prostate cancer, alcoholism, muscle disorders, bone disorders and our natural defence mechanisms against infectious diseases.

As we enter the next generation of human genetics research, perhaps most important, is the fact that as human genetics and genomics research advances in Trinidad and Tobago, there has been a parallel commitment from The UWI and the TT Government to develop initiatives, guidelines and policies which serve to educate and protect against any ethical, legal and social implications of this type of work.

A person’s genetic information is regarded as unique, and in the Data Protection Act, 2011 of Trinidad and Tobago makes mention of DNA as personal information that should be protected. However, because legislation lags behind technological advances and may not address the implications of these technological advances comprehensively, the role of ethics and responsible conduct of research is paramount.

Our researchers at The UWI routinely need to obtain approval from Ethics Committees, which ensures that study protocols adhere to international standards in terms of how risks are managed and weighed against potential benefits of the research. Ethical issues of confidentiality, privacy and safety of study participants are paramount in human genetics studies, and as a result, opportunities to ask about the risks and benefits and procedures to ensure participants are fully informed must be built into the study protocols before any individual decides whether or not they wish to participate.

Understanding the unique challenges faced by researchers who may wish to engage in human genetics/genomics research and its responsibility to the population it serves, the Faculty of Medical Sciences at the UWI plans to launch a series of lectures geared toward education and encouragement of scholarly debate about this field.

Genes are the molecular units that carry the information used to build and maintain a living organism. They specify certain biological characteristics (or traits) in an individual and are passed down from one generation to another.

Genetics is a term that refers to the study of genes and the way that certain traits or conditions are passed down from one generation to another. An example of a genetic or inherited disorder is Sickle Cell Disease.

Genomics is a more recent term that describes the study of the complete hereditary information or “genomes” of individuals, including interactions of genes with each other and with the person's environment. The human genome contains about 25,000 genes. Genomics facilitates the scientific study of complex diseases like heart disease, asthma, diabetes, Parkinson’s disease and cancer and may offer new possibilities for treatment of some of these complex diseases, as well as new diagnostic methods.

Genome Wide Association describes an approach that involves rapidly scanning markers across the genomes of many people to find genetic variations associated with a particular disease. Once new genetic associations are identified, the information may then be used to develop (and improve) strategies to detect, treat and prevent the disease.

Allana Roach B.S., Ph.D. (Howard) is an independent consultant Human Geneticists and Community Health Specialist with expertise in human research ethics and transdisciplinary genomics. Christine Carrington, B.Sc. Hons., Ph.D. (Lond) is Professor of Molecular Genetics and Virology in the Department of Preclinical Sciences of the Faculty of Medical Sciences at The University of the West Indies. Both Dr. Roach and Professor Carrington are members of the NESTT Genetics Samples Governance Committee. The NESTT study is a Ministry of Health funded academic collaboration between The UWI and Anglia Ruskin University Cambridge (UK), together with Duke University (USA) and researchers at University College London (UK).