Project description:A historical summary of genetics and genomic medicine in Argentina. We go through the achievements and difficulties in the implementation of genetic and genomic services both in academia and health care.
Project description:Knowledge of genetics is crucial for understanding genetic and genomic tests and for interpreting personal genomic information. Despite this relevance, no data are available about the level of knowledge of genetics in an Ecuadorian population. This investigation sought to survey such knowledge in undergraduate students affiliated with private and public institutions in Quito, the capital city of Ecuador. A total of 350 individuals responded to a validated questionnaire measuring knowledge of genetics. Scores ranged from 45% to 87% (mean: 66.8%), and students achieved slightly better results when asked about genetics and diseases (mean score: 68.3%) than when asked about genetic facts (mean score: 64.9%). Additionally, no significant differences in performance were found among students from private and public institutions. Surprisingly, the lower score obtained (45%) was from a question about how chromosomes are passed to the next generation. The highly educated status of the surveyed population could explain the overall results; nonetheless, the possibility that the correct responses were given by chance cannot be ignored. Therefore, the actual knowledge of genetics among the participants might be different than that revealed by the percentages of correct answers. Consequently, to achieve the goal of ensuring informed decision-making concerning genetic and genomic tests, it seems evident that the national education programs of Ecuador require improvement in the teaching of genetic concepts.
Project description:The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics-based translational medicine mainly in the developed world. However, the development of such advances has been hampered in most parts of the developing world due to scarcity of resources and trained personnel. Genetics and genomic medicine are currently in the process of being integrated into the Sri Lankan health care system. These developments have taken place mainly due to the heightened awareness and increasing demands made by the public for provision of genetic diagnostic and therapeutic services in clinical care. Due to the exorbitant costs incurred in the maintenance of these services and the dearth of adequately trained manpower, only a few centers in the country, mainly in Universities or private sector, are currently engaged in providing these services to the public. This article aims to provide an overview of the genetics and genomic medicine services in Sri Lanka from its early developments to the current state.
Project description:INTRODUCTION:Emergency medicine (EM) was recognized as a specialty in Ecuador in 1993. Currently, there are two four-year EM residency programs and an estimated 300 residency-trained emergency physicians countrywide. This study describes the current challenges in EM in Ecuador. METHODS:We conducted 25 semi-structured, in-person interviews with residency-trained emergency physicians, general practitioners, public health specialists, prehospital personnel, and physicians from other specialties. The interviewer asked about challenges in the areas of emergency care, working conditions of emergency physicians, EM residency education, EM leadership, and prehospital care. We analyzed data for challenges and registered the number of interviewees who mentioned each challenge. RESULTS:Interviewees worked in the three largest cities in the country: Quito (60%); Guayaquil (20%); and Cuenca (20%). Interviewees included 16 (64%) residency-trained emergency physicians; six (24%) residency-trained physicians from other specialties working in or closely associated with the emergency department (ED); one (4%) general practitioner working in the ED; one (4%) specialist in disasters; and one (4%) paramedic. Shortage of medical supplies, need for better medico-legal protection, lack of EM residencies outside of Quito, and desire for more bedside teaching were the challenges mentioned with the highest frequency (each 44%). The next most frequently mentioned challenges (each 38%) were the need for better access to ultrasound equipment and the low presence of EM outside the capital city. Other challenges mentioned included the low demand for emergency physicians in private institutions, the lack of differential pay for night and weekends, need for more training in administration and leadership, need for a more effective EM national society, and lack of resources and experience in EM research. CONCLUSION:Emergency medicine has a three-decade history in Ecuador, reaching important milestones such as the establishment of two EM residencies and a national EM society. Challenges remain in medical care, working conditions, residency education, leadership, and prehospital care. Stronger collaboration and advocacy among emergency physicians can help strengthen the specialty and improve emergency care.
Project description:"Genomic medicine" refers to the diagnosis, optimized management, and treatment of disease--as well as screening, counseling, and disease gene identification--in the context of information provided by an individual patient's personal genome. Genomic medicine, to some extent synonymous with "personalized medicine," has been made possible by recent advances in genome technologies. Genomic medicine represents a new approach to health care and disease management that attempts to optimize the care of a patient based upon information gleaned from his or her personal genome sequence. In this review, we describe recent progress in genomic medicine as it relates to neurological disease. Many neurological disorders either segregate as Mendelian phenotypes or occur sporadically in association with a new mutation in a single gene. Heritability also contributes to other neurological conditions that appear to exhibit more complex genetics. In addition to discussing current knowledge in this field, we offer suggestions for maximizing the utility of genomic information in clinical practice as the field of genomic medicine unfolds.
Project description:The Human Genome Project and the continuing advances in DNA sequencing technology have ushered in a new era in genomic medicine. Successful translation of genomic medicine into clinical care will require that providers of this information are aware of the level of understanding, attitudes, perceived risks, benefits, and concerns of their patients. We used a mixed methods approach to conduct in-depth interviews with participants in the NCI-funded Breast Cancer Family Registry (BCFR). Our goal was to gain a better understanding of attitudes towards different types and amounts of genomic information, current interest in pursuing genomic testing, and perceived risks and benefits. We interviewed 32 women from the six BCFR sites in the USA, Canada, and Australia. In this sample of women with a personal or family history of breast cancer, we found high acknowledgement of the potential of genetics/genomics to improve their own health and that of their family members through lifestyle changes or alterations in their medical management. Respondents were more familiar with cancer genetics than the genetics of other diseases. Concerns about the testing itself included a potential sense of loss of control over health, feelings of guilt on passing on a mutation to a child, loss of privacy and confidentiality, questions about the test accuracy, and the potential uncertainty of the significance of test results. These data provide important insights into attitudes about the introduction of increasingly complex genetic testing, to inform interventions to prepare individuals for the introduction of this new technology into their clinical care.