Article

The impact of genetics and genomics on public health

German Center for Public Health Genomics, University of Applied Sciences, Bielefeld, Germany.
European Journal of HumanGenetics (Impact Factor: 4.23). 10/2007; 16(1):5-13. DOI: 10.1038/sj.ejhg.5201942

ABSTRACT Public health practice has to date concerned itself with environmental or social determinants of health and disease and has paid scant attention to genomic variations within the population. The advances brought about by genomics are changing these perceptions. In the long run, this knowledge will enable health promotion messages and disease prevention programmes to be specifically directed at susceptible individuals and families, or at subgroups of the population, based on their genomic risk profile. As the controversial discourse in science and health politics shows, the integration of genomics into public health research, policy and practice is one of the major challenges that our health-care system is currently facing.Keywords: public health genomics, genetics, genomics and population health, prevention, health policy, inequalities in health and social exclusion, public health ethics

0 Followers
 · 
177 Views
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Sarcopenia reduces functional capacity in elderly people. The candidate gene Insulin Growth Factor (IGF-2) has been suggested to influence on sarcopenia. This study aimed to investigate the association between the IGF-2 / ApaI polymorphism and the phenotypes muscle mass and strength. The study involved 252 subjects (66.94 ± 5.59 years), who underwent muscle strength measurements using an isokinetic dynamometer, and fat-free mass (FFM) assessment using DEXA. Volunteers also answered the IPAQ questionnaire to determine physical activity levels. Statistical procedures included ANOVA and ANCOVA to compare variables (p< 0.05). No significant difference was detected between age, weight, height, BMI and body fat percentage in the three genotype groups. The analysis of covariance evidenced no significant difference between groups regarding the evaluated muscle-related phenotypes. Therefore, there was no significant association between IGF-2 / ApaI polymorphism with isokinetic muscle strength and FFM in this population.
    Revista da Educação Física/UEM 12/2012; 23(4):617-628. DOI:10.4025/reveducfis.v23.4.15238
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Genomic medicine is based on the knowledge that virtually every medical condition, disease susceptibility or response to treatment is caused, regulated or influenced by genes. Genetic testing may therefore add value across the disease spectrum, ranging from single-gene disorders with a Mendelian inheritance pattern to complex multi-factorial diseases. The critical factors for genomic risk prediction are to determine: (1) where the genomic footprint of a particular susceptibility or dysfunction resides within this continuum, and (2) to what extent the genetic determinants are modified by environmental exposures. Regarding the small subset of highly penetrant monogenic disorders, a positive family history and early disease onset are mostly sufficient to determine the appropriateness of genetic testing in the index case and to inform pre-symptomatic diagnosis in at-risk family members. In more prevalent polygenic non-communicable diseases (NCDs), the use of appropriate eligibility criteria is required to ensure a balance between benefit and risk. An additional screening step may therefore be necessary to identify individuals most likely to benefit from genetic testing. This need provided the stimulus for the development of a pathology-supported genetic testing (PSGT) service as a new model for the translational implementation of genomic medicine in clinical practice. PSGT is linked to the establishment of a research database proven to be an invaluable resource for the validation of novel and previously described gene-disease associations replicated in the South African population for a broad range of NCDs associated with increased cardio-metabolic risk. The clinical importance of inquiry concerning family history in determining eligibility for personalized genotyping was supported beyond its current limited role in diagnosing or screening for monogenic subtypes of NCDs. With the recent introduction of advanced microarray-based breast cancer subtyping, genetic testing has extended beyond the genome of the host to also include tumor gene expression profiling for chemotherapy selection. The decreasing cost of next generation sequencing over recent years, together with improvement of both laboratory and computational protocols, enables the mapping of rare genetic disorders and discovery of shared genetic risk factors as novel therapeutic targets across diagnostic boundaries. This article reviews the challenges, successes, increasing inter-disciplinary integration and evolving strategies for extending PSGT towards exome and whole genome sequencing (WGS) within a dynamic framework. Specific points of overlap are highlighted between the application of PSGT and exome or WGS, as the next logical step in genetically uncharacterized patients for whom a particular disease pattern and/or therapeutic failure are not adequately accounted for during the PSGT pre-screen. Discrepancies between different next generation sequencing platforms and low concordance among variant-calling pipelines caution against offering exome or WGS as a stand-alone diagnostic approach. The public reference human genome sequence (hg19) contains minor alleles at more than 1 million loci and variant calling using an advanced major allele reference genome sequence is crucial to ensure data integrity. Understanding that genomic risk prediction is not deterministic but rather probabilistic provides the opportunity for disease prevention and targeted treatment in a way that is unique to each individual patient.
    Critical Reviews in Clinical Laboratory Sciences 01/2015; DOI:10.3109/10408363.2014.997930 · 7.00 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Background Public health genomics is an emerging multidisciplinary approach, which aims to integrate genome-based knowledge in a responsible and effective way into public health. Despite several surveys performed to evaluate knowledge, attitudes and professional behaviors of physicians towards predictive genetic testing, similar surveys have not been carried out for public health practitioners. This study is the first to assess knowledge, attitudes and training needs of public health professionals in the field of predictive genetic testing for chronic diseases. Methods A self-administered questionnaire was used to carry out a cross-sectional survey of a random sample of Italian public health professionals. Results A response rate of 67.4% (797 questionnaires) was achieved. Italian public health professionals have the necessary attitudinal background to contribute to the proper use of predictive genetic testing for chronic diseases, but they need additional training to increase their methodological knowledge. Knowledge significantly increases with exposure to predictive genetic testing during postgraduate training (odds ratio (OR) = 1.74, 95% confidence interval (CI) = 1.05–2.88), time dedicated to continuing medical education (OR = 1.53, 95% CI = 1.14–2.04) and level of English language knowledge (OR = 1.36, 95% CI = 1.07–1.72). Adequate knowledge is the strongest predictor of positive attitudes from a public health perspective (OR = 3.98, 95% CI = 2.44–6.50). Physicians show a lower level of knowledge and more public health attitudes than other public health professionals do. About 80% of public health professionals considered their knowledge inadequate and 86.0% believed that it should be improved through specific postgraduate training courses. Conclusions Specific and targeted training initiatives are needed to develop a skilled public health workforce competent in identifying genomic technology that is ready for use in population health and in modeling public health genomic programs and primary care services that need to be developed, implemented and evaluated.
    BMC Health Services Research 05/2014; 14(1):239. DOI:10.1186/1472-6963-14-239 · 1.66 Impact Factor