NIOSHTIC-2 Publications Search

Immunogenetic factors in chronic beryllium disease.

McCanlies EC; Andrew ME; Weston A
Human genome epidemiology: a scientific foundation for using genetic information to improve health and prevent disease. New York: Oxford University Press, 2003 Oct; :383-401
Occupational exposure to beryllium presents a clear risk of adverse health outcome. Despite the implementation of the 2 microg/m3 exposure limit and implementation of control technology (e.g., respirators), CBD and beryllium sensitization continue to be problematic (20, 23-28). In addition to beryllium exposure, a strong association between certain genetic factors and the risk of disease has also been identified (1-6). In light of the high odds of disease associated with specific genes, it would seem prudent t9 implement a genetic testing program that would potentially reduce the numbers of high-risk people from being exposed to beryllium. However, where this has proven effective for other diseases that have a strong genetic component, (e.g., hemochromotosis and HFE gene) (60), in the case of CBD, because of potential employment and insurance discrimination, the ethical, legal, and social implications must be stressed. Here also, we focused on the scientific issue of the positive predictive value of such a genetic test and have found that HLA-DPB1E69 in the beryllium worker population results in a low positive predictive value. However, because the association between HLA-DPB1E69 and CBD is unequivocal, if confidentially provided, prospective employees may find having their genetic information useful for deciding if they want to work in the beryllium industry. Despite the level of uncertainty, for some, knowing only that their risk was higher is sufficient, regardless of the predictive value. Similarly for current workers, though they have already been exposed, the realization that they are at an increased risk may also affect their decision about remaining in the industry. Unfortunately the scientific evidence is not yet available to advise beryllium workers on a definite course of action based on their genotype. Rather, only the potential risks and benefits can be discussed. However, as integrated genetic and epidemiologic research studies continue, many of these issues may be resolved. Research will allow specific questions associated with the natural history of CBD to be addressed. The identification of other high-risk genes, gene-exposure, and gene-gene interactions will also improve personal risk assessment and help determine if specific genes or alleles are more valuable as prognostic indicators. Furthermore, these and similar studies will be able to clarify the pathology of CBD, opening the door to more effective treatment and interventions.
Beryllium-compounds; Beryllium-disease; Beryllium-poisoning; Immunology; Genetics; Epidemiology
Publication Date
Document Type
Book or book chapter
Khoury-MJ; Burke-W; Little-J
Fiscal Year
NIOSH Division
Priority Area
Research Tools and Approaches: Risk Assessment Methods
Source Name
Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease
Page last reviewed: September 2, 2020
Content source: National Institute for Occupational Safety and Health Education and Information Division