The mapping and sequencing of the human genome has resulted in an explosion of information which may ultimately lead to improved capability for detecting diseases or increased susceptibility to disease, treatment of a wide range of diseases, and the identification of those at increased risk for adverse reactions to pharmaceuticals and environmental or workplace chemicals. Some tests are already commercially available, e.g., tests which screen for variations in genes that metabolize certain pharmaceuticals. Genetic screening* offers the prospect of a new era for prevention and treatment and a growing array of effective new interventions.

Genetic screening has also been accompanied by some misunderstanding, mistrust, and fears that it could be used inappropriately. Indeed, some previous uses of genetic screening have been inconsistent with good ethical standards and sound scientific practice, and have led some to advocate that genetic screening be treated as a separate category with special safeguards.

The position of the American College of Occupational and Environmental Medicine (ACOEM) is that genetic screening is not conceptually different from other types of medical testing or screening and that adherence to existing ethical standards, good scientific practices, and laws regulating medical confidentiality protect the rights of the individual appropriately, while allowing the new information to be used to further safeguard the health of individuals in the workplace and elsewhere.

Since genetic screening may be conducted in the workplace, or employees may present genetic testing information to their employers, it is imperative that practitioners of occupational and environmental medicine be well-grounded in the relevant ethical, legal, social and scientific considerations, and be prepared to offer sound advice to employees, employers, insurance companies, and regulatory agencies.

Although the application of genetic screening in the workplace has been limited to date, the ethical considerations of such testing in the workplace (and elsewhere) have been extensively examined. ACOEM endorses the following guiding principles:

• genetic screening must be conducted in accordance with the law, medical ethical standards, and good scientific practices;
• until extensively validated, genetic screening is a form of human investigation and subject to the appropriate ethical and scientific controls;
• due consideration should be given to the quality and reliability of the screening tests and the predictive value of the results;
• caution should be exercised in the use and interpretation of screening tests; and
• if performed, genetic screening should always be accompanied by an opportunity to discuss the meaning of the results with an appropriately trained health professional.

ACOEM recognizes that there is potential for immediate harm from the misuse of genetic screening through discrimination in employability or insurability. There are also risks that the adoption of specific screening that has not been adequately validated will lead to inappropriate regulations and unnecessary litigation. Improperly used or interpreted screening test results may addition- ally mislead individuals, employers, and insurance companies about potential risks. Therefore, ACOEM endorses the following recommendations:

• Genetic screening may be performed on current or prospective employees when it is clear that the genetic trait directly affects job performance, when the trait being screened for predisposes a worker to a significant, consistent adverse outcome following an otherwise acceptable workplace exposure, or when done as part of a medically confidential general health assessment offered to employees. In all instances, employees should be informed of the screening, have the option to decline non-job-specific screening, be given the test results, and be guaranteed that the test results will not be disclosed to others without their consent. In accordance with the ACOEM Code of Ethical Conduct, specific screening test results should not be released to employers, and the disclosure of information derived from such testing should be limited to its impact on the employee’s fitness to perform a particular job;

• Decisions by employers and insurance companies about insurability should not be based on genetic status nor should genetic screening results be used to make decisions on the issuance or pricing of health care insurance.

ACOEM is the pre-eminent medical organization that champions the health and safety of workers, workplaces, and environments. The College represents more than 5,000 physicians and other allied health professionals who are specialists in the field of occupational and environmental medicine.

*In the following discussion, the term “genetic screening” and “genetic testing” refer to the evaluation of genotype (i.e., tests that specifically characterize gene or chromosomal structure), not tests that characterize phenotype or evaluate function.

References

1. Markel H. The stigma of disease: implications of genetic screening. Am J Med. 1992;93:209-215.
2. Weinberg JM. Breaking bonds: discrimination in the genetic revolution. JAMA. 1992;268:1767, 1771.
3. Genetic Monitoring & Screening in the Workplace, 1, 2 & 3. Washington, DC: Congressional Office of Technology Assessment; 1990.
4. AMA Council on Ethical and Judicial Affairs. Use of genetic testing by employers. JAMA. 1991;266:1827-30.
5. Orentlicher D. Genetic screening by employers. JAMA. 1990;263:1005,1008.
6. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: Committee on Assessing Genetic Risks of the Division of Health Science Policy, Institute of Medicine; 1993. National Academy Press publication.
7. American College of Occupational and Environmental Medicine. Code of ethical conduct. J Occup Med. 1994;29:28.
8. Brandt-Rauf PW, Brandt-Rauf SI. Genetic testing in the workplace: ethical, legal, and social implications. Ann Rev Pub Health. 2004;25:139-53.
9. British Medical Association: Population screening and genetic testing: A briefing on current programmes and technologies. 2005; London: British Medical Association (available at www.bma.org.uk).
10. Greely HT. Banning Genetic Discrimination. N Engl J Med. 2005;353;9:865-7.

This statement was developed by ACOEM’s Ad hoc Committee on Genetic Screening of the Council on Scientific Affairs. Committee members are Drs. Paul Brandt-Rauf, David C. Deubner, Robert A. Pinter, Benjamin F. Withers, T. Warner Hudson, and Jonathan Borak . It was approved by the ACOEM Board of Directors on October 27, 2005.