domingo, 22 de marzo de 2015

CDC - Genetics in the Workplace - NIOSH Workplace Safety and Health Topic

CDC - Genetics in the Workplace - NIOSH Workplace Safety and Health Topic


NOTE: This page is archived for historical purposes and is no longer being maintained or updated.


Major technological advances in the last few decades have increased our knowledge of the role that genetics plays in occupational diseases. Our understanding of genetic changes that are acquired during a lifetime as a result of exposures and the interaction between genes and environmental factors have been studied. However, the use of genetic information in occupational safety and health research and practice presents both potential benefits and concerns and raises medical, ethical, legal and social issues.

Genetic information

a graphic outlining a path to genetic molecular biologyCombined with knowledge of other factors that contribute to occupational morbidity and mortality, genetic information will play an increasing role in preventing occupational disease. Genetic information includes many different types of information. For example, it may include information on acquired genetic effects such as a change in a person’s genetic material (e.g., mutations in DNA, RNA, etc.) which occurred as a result of exposure to a harmful agent. It could also indicate inherited characteristics, such as genes that interact with environmental agents to increase or decrease the risk of disease.
Genetic tests are not the only source of genetic information in the workplace. Genetic information may be found in workers' personnel and workplace health records or reports of family history of diseases with known strong genetic etiologies, and results from physical examinations and common laboratory tests. This type of medical information is reported routinely by workers and obtained by employers from workers’ job applications, health questionnaires, health and life insurance applications, physicals, and workers’ compensation proceedings.

The Role of Genetics in Occupational Diseases

Genetics can play a role in all diseases. Sometimes a single gene is sufficient to trigger a disease. Other times multiple genes are involved in the disease progression. Genes may modify the individual’s response in such a way that the person is more or less likely to develop a disease. For occupationally-related diseases no single gene will be the cause, as occupational exposure must occur. The type of exposure, extent of exposure, genes and other factors then determine the effect of the exposure in an individual.
The main influence of genetic research with respect to occupational health is the large number of technological advances in molecular biology/genetics. Because of these new techniques, it is now possible to evaluate the relationship of disease with individual genes and their variants or even with the whole genome. These technologies promise to set the stage for new discoveries in understanding mechanisms and the preclinical changes that might serve as early warnings of disease or increased risk.

Validation and Clinical Utility of Genetic Tests

As our understanding of the role of specific genes and their variants increases, genetic tests are being developed to look at specific genotypes. One critical issue in genetics is the validity of such genetic tests. Validation is a process by which a test’s performance is measured both in the laboratory and in populations, resulting in the evaluation of the clinical utility or the risks and benefits of the test. Much contemporary genetic research involves the collection of biological specimens (usually DNA in white blood cells) that are then tested either for changes (damage) to genetic material or variation in genes known as polymorphisms. These genetic tests, while useful in occupational health research, are not at present ready for clinical use; in other words, they are not validated for clinical interpretation. Until clinically validated, the information from such tests may be meaningless with regard to an individual’s health or risk.

Genetic Monitoring and Occupational Health Practice

In occupational safety and health practice, genetic tests may be used in a variety of ways. Monitoring for the effects of exposure on genetic material, such as chromosomes, genes, and DNA, has been used to evaluate risks and potential health problems for more than 50 years, particularly those from ionizing radiation. Such monitoring is similar to biomonitoring for metals in blood, solvents in breath, or dusts in lungs. Tests for genetic damage have been advocated as a way to prioritize exposed individuals for more thorough medical monitoring. Unlike other biomonitoring methods, the risks linked to cytogenetic changes are interpretable only for the group, not for the individual.

Genetic Screening and Occupational Health Practice

Genetic monitoring may have some application in occupational health practice, but perhaps the most controversial potential use of genetic information is in making decisions about employment opportunities and health and life insurance coverage. A question that must be asked is "Who owns an individual’s genetic information?" Can the individual obtain pre-employment testing and use that information in deciding to accept or reject employment, or does the employer have the right to use that information in deciding whether to offer employment at all. The Genetic Information Nondiscrimination Act of 2008 (GINA) prohibits discrimination on the basis of genetic information with respect to health insurance and employment, but GINA does not cover all individuals nor does it cover all types of insurance. The military is exempt from GINA regulations. Only health insurance is covered by GINA, so the ability of an individual to obtain disability and life insurance could still be affected by their genetic information.
A concern about the use of genetic information in occupational safety and health is that the emphasis in maintaining a safe and healthful workplace could shift from controlling the environment to excluding the vulnerable worker. This would be counter to the spirit and the letter of the Occupational Safety and Health Act of 1970. It is the mission of NIOSH to provide a safe and healthful workplace for all.

The Contributions of Genetics to Occupational Safety and Health

Understanding the role of genetic factors and their interaction with environmental/occupational exposures is important in occupational health and could lead to further prevention and control efforts, the identification of novel therapeutic targets and educational strategies for better management of work-related diseases. Although the majority of workplace exposures are being highly controlled, workers with susceptible genetic profiles may still be at high risk. Occupational safety and health decision-makers, researchers, and practitioners may ultimately find that genetic factors contribute substantially to some occupational diseases but not to others. Occupational/environmental risk factors should always be more important for developing strategies for prevention and intervention in occupational disease and ultimately for the reduction of morbidity and mortality. The challenge is to identify and apply genetic information in ways that will improve occupational safety and health for workers.

Key Points

  • Exposure to a workplace hazard is necessary for an occupational disease to occur, regardless of the genetic makeup of the person.
  • The use of genetic information in occupational safety and health research and practice has several real or perceived negative consequences, such as stigmatization or privacy loss.
  • In occupational safety and health practice, genetic tests-whether for monitoring or screening-must be validated to provide reliable exposure or risk assessments, and risks and benefits must be considered.

NIOSH Contacts


NIOSHTIC-2 is a searchable bibliographic database of occupational safety and health publications, documents, grant reports, and journal articles supported in whole or in part by NIOSH.

Implications for Occupational Safety and Health

Genetics in the Workplace The purpose of this document is to consolidate the diverse literature and opinions on genetics in the workplace, to flag important issues, and to provide some considerations for current and future research and practice. Recent advances in understanding the human genome have created opportunities for disease prevention and treatment. Even though the focus of attention on applications of genetic discoveries has been largely outside of the workplace, genetic information and genetic testing are impacting today's workplace.

Genetics Related Links

Bioethics and Health Law ResourcesExternal Web Site Icon Web links provided on bioethics, health policy and law.
Cancer Genome ProjectExternal Web Site Icon Slide presentation on understanding cancer.
CDC Office of Public Health Genomics The Office of Public Health Genomics (OPHG) promotes the integration of genomics into public health research, policy, and practice to prevent disease and improve the health of all people.
Effects of Occupational and Environmental Exposures on Genetic MaterialExternal Web Site Icon International Programme on Public Safety guidelines for genetic monitoring.
Environmental Genome Project, The Environmental Genome Project in NIEHS studies gene-environment interactions that affect health.
Genes, Environment and Health Initiative (GEI)External Web Site Icon The National Institutes of Health initiative to research genes and the environment.
Genetic Association DatabaseExternal Web Site Icon The Genetic Association Database is an archive of human genetic association studies of complex diseases and disorders.
Genetic Association Information Network (GAIN)External Web Site Icon In 2007, the Genetic Association Information Network (GAIN) completed an ambitious program to genotype existing research studies in six major common diseases, and combine the results with clinical data to create a significant new resource for genetic researchers.
Genetic Information Nondiscrimination Act of 2008External Web Site Icon Description of the Genetic Information Nondiscrimination Act of 2008 provided by the National Human Genome Research Institute.
Genetic Testing Definition of genetic testing given by Centers for Disease Control and Prevention.
Genome Wide Association StudiesExternal Web Site Icon Charles C. Chung, Wagner C. S. Magalhaes, Jesus Gonzalez-Bosquet and Stephen J. Chanock. Genome-wide association studies in cancer—current and future directions. Carcinogenesis 2010 31(1):111-120.
Guidelines for Development of Standardized Criteria for Study Design and ReportingExternal Web Site Icon The MGED Society is an international organization of biologists, computer scientists, and data analysts that aims to facilitate biological and biomedical discovery through data integration. Our approach is to promote the sharing of large data sets generated by high throughput functional genomics technologies.
Human Genome Research InstituteExternal Web Site Icon The National Human Genome Research Institute began as the National Center for Human Genome Research (NCHGR), which was established in 1989 to carry out the role of the National Institutes of Health (NIH) in the International Human Genome Project (HGP).
Implementation of GEI ActivitiesExternal Web Site Icon The Genes, Environment and Health Initiative (GEI) was announced in February 2006 to support research that will lead to the understanding of genetic contributions and gene-environment interactions in common disease.
NIH National Center for Bioinformatics Gene Expression OmnibusExternal Web Site Icon a public functional genomics data repository supporting MIAME-compliant data submissions.
Pharmacogenetics Research NetworkExternal Web Site Icon The Pharmacogenetics Research Network (PGRN) is a nationwide collaboration of scientists studying the effect of genes on people's responses to a wide variety of medicines.
Three Somatic Genetic Biomarkers and Covariate in Radiation-exposed Cleanup Workers on the Chernobyl Nuclear Reactor 6-13 years after Exposure.External Web Site Icon Jones IM, Galick H, Kato P, Langlois RG, Mendelsohn ML, Murphy GA, Pleshanov P, Ramsey MJ, Thomas CB, Tucker JD, Tureva L, Vorobtsova I, Nelson DO. Three somatic genetic biomarkers and covariates in radiation-exposed Russian cleanup workers of the chernobyl nuclear reactor 6-13 years after exposure. Radiat Res. 2002 Oct; 158(4):424-42.
Understanding Genetics: A Primer for Occupational Health PracticeExternal Web Site Icon Wright L. Understanding Genetics: A Primer for Occupational Health Practice. AAOHN Journal Vol. 53. No.12; December 2005.
WHO Genome Resource CentreExternal Web Site Icon Ethical, legal and social implications (ELSI) of human genomics from a WHO perspective.

Other NIOSH Resources

Exposure Assessment Research
Exposure Assessment is the multi-disciplinary field that identifies and characterizes workplace and environmental exposures, develops estimates of exposure for exposure-response and risk assessment studies, and evaluates the significance of exposure and effectiveness of intervention strategies.
Cancer, Reproductive, and Cardiovascular Diseases Program
The mission of the Cancer, Reproductive, and Cardiovascular Research Program (CRC) is to provide national and international leadership for the prevention of work-related diseases using a scientific approach to gather and synthesize information, create knowledge, provide recommendations, and deliver products and services to those who can effect prevention. The program strives to fulfill its mission through high quality research, practical solutions, partnerships, and translation of research to practice.
Manufacturing Sector Research Program
The mission of the NIOSH research program for the Manufacturing sector is to eliminate occupational diseases, injuries, and fatalities among workers in manufacturing industries through a focused program of research and prevention. The program strives to fulfill its mission through the following: high quality research, practical solutions, partnerships, and research to practice.

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