Genetics - NIOSH draft document on Genetics in the Workplace (2006)

March 6, 2006

Dr. W. Gregory Lotz, Association Director for Science

Division of Applied Research and Technology

National Institute for Occupational Safety and Health

Mailstop R-2

4676 Columbia Parkway

Cincinnati, OH 45226

Re: National Institute for Occupational Safety and Health (NIOSH), Genetics in the Workplace

Dear Dr. Lotz:

The American Association of Occupational Health Nurses, Inc. (AAOHN) is pleased to submit our comments to the Genetics Working Group on NIOSH Genetics in the Workplace Draft document.

General Comments

As genetics is becoming a reality in clinical practice, the occupational and environmental health nurse (OHN) must understand evolving biological facts and genetic principles; and know about the benefits and risk of genetic testing, genetic manipulation and therapeutic modalities. To assist employees and employers with their questions regarding genetics in the workplace environment, the OHN will be expected to recognize genetic problems, refer employees/employers to appropriate heathcare providers, prepare and possibly perform specialized testing, and provide support and follow-up.

This document links basic scientific research and population based research to the applied general health, public health and private practice. It is in line with genetic testing policy statements made by the ELSI section of the Human Genome Project and the American Society of Human Genetics. There is sound use of the literature in providing rationale for statements in the text and tables with specific citations, if a reader wanted to investigate a specific polymorphism or exposure. The references and Internet links are extensive.

1. Validity and Utility Issues:

   Before one can apply a test to a healthy population, especially a heterogeneous worker population, there are many questions of test result uncertainties that require further study, i.e., analytical and clinical validity (ability of test to measure accurately and reliably the biomarkers and the ability to detect or predict associated disorders) and clinical utility (information that can be use for employee health promotion, treatment, and life style changes). This is important since accurate gene testing will provide information on whether one has or does not have a disease-related gene mutation, which could influence gene penetrance.

   Validity testing is difficult if one is analyzing a single gene, but the difficulty is raised exponentially when one must consider multiple genes and environmental exposures simultaneously. The technology is improving but issues of vast genetic heterogeneity, individual gene penetrance (gene may not express unless other factor are present) and difficulties determining precise environmental exposures (dosage) remain. These challenges were included in several sections beginning with the "Challenges of Genomics…" on page 29.

2. Misuse of Genetic Information

   We are pleased to see attention given to the potential misuse of genetic information. The caution for the present time to use genetic information for "group comparisons and not for individual risk assessment" is critical. The effects of polymorphism on environmental exposures differ among racial and ethnic groups, which can lead to stereotyping. One should avoid inappropriate uses of genetic testing in an effort to select "resistant workers" or exclude workers due to genetic variation, as discussion on pages 83-86. At the same time all workers should be protected from potential hazards.

3. Concerns

   A major concern is the lack of emphasis put on the genetic susceptibility of all individuals. It seems that we are missing the point if we take allele 1 or allele 2 and say that person is resistant or susceptible to condition X. None of us live in a sterile environment where we will be exposed only to condition X or only to one hazard at a time. Rarely is one gene the culprit either. All of us carry 4-5 "really fouled up genes" (to quote Francis Collins MD, PhD, Director, Human Genome Research Institute) and we have no real estimate of how many single nucleotide polymorphisms vary in each of us. It seems that in a molecular world there is no place for the word predisposition. Predisposition means all of us; it is only a matter of which polymorphism under which conditions. This concept should be emphasized to strengthen the position against using individual tests to screen workers at this time. AAOHN would also like to see the last paragraph strengthened regarding the need to actually pass Federal genetic antidiscrimination legislation that has been languishing in Congress for the last four years.

   The Association agrees that there should be adequate safeguards to protect the worker against misuse of genetic information. Genetic information should be kept in the worker’s personal and, as appropriate, workplace health records. Confidentiality should not be jeopardized when most occupational health services (OHS) are managed by safety and human resource personnel who already demand to have access of worker’s personal health files. OHN confidentiality is complicated by dual role of health care provider for the employee and management resource for the employer. Although the most controversial use of information would be making decisions about employment, insurance coverage, etc., there are some employers and mangers who would try to get access to genetic information as a means for job transfer or dismissal, especially if the employee is frequently out of work, disgruntled, has filed complaint against management (EEOC), etc.

   There are still ethical, social and legal concerns with genetic testing in the workplace and as the research proceeds, there must be strenuous safeguards to protect employee privacy and confidentiality. Because of ethical and legal implications, an employee’s health information must be protected through use of informed consent, better internal safeguards or stronger privacy and confidentiality laws.

4. Benefits

   Since most diseases have their roots in genes, genetics can be useful in health promotion and wellness activities, i.e., "blocking the expression of a gene to modify a disease risk" (page iii). In addition, genetics may improve disease-predictive value of risk factors thus establishing new approaches for primary prevention of many chronic diseases (page 22).

   Genetic tests can be used to look for possible predisposition to disease, and may offer the ability to distinguish an occupational cancer from a non-occupational cancer. Genetic testing is not limited to the identification of rare diseases, uncommon exposures or occupational related diseases, but can also identify the susceptibility to occupational injuries, i.e., degenerative disk diseases. Currently, genetic testing is looking at "predictive gene testing", which are tests that identify people who are at risk of getting a disease before any symptoms appear. These genetic biomarkers of susceptibility and occupational exposure are currently being developed for silicosis, asbestosis, heavy metal disease, solvent allergies, and carpal tunnel syndrome.

   Under the best of circumstances, having the information from genetic testing would create an excellent opportunity for the OHN to provide health promotion counseling and interventions to help reduce the risk. As the testing become more refined and accepted in the workplace, the cost savings’ impact on workers’ compensation claims and return to work placement will be huge.

5. Suggested Revisions

AAOHN appreciates the opportunity to provide comments to the Genetic Working Group. As always, we will continue to support the National Institute for Occupational Safety and Health in promoting safe and healthful work environments.

Sincerely,

Susan A. Randolph, MSN, RN, COHN-S, FAAOHN

President, AAOHN

cc: AAOHN Board of Directors

Ann R. Cox, AAOHN Executive Director