The problem is how, not when, to start testing

For health promotion professionals who wonder when genetic testing for such conditions as breast cancer might be available to the entire population, the answer is, "yesterday."

"It could certainly be done now," says Andy Harris, MS, president of High Tech Health, a Herndon, VA-based health promotion company that provides on-site health assessment services. "These are fairly simple blood tests, although the cost may be prohibitive. For example, you might be looking at $200-$300 for a physician visit and test vs. $35-$50 for a PSA (prostate cancer screening) at the worksite."

"Market forces have certainly come to bear on the business of genetic testing," Francis Collins, PhD, director of the National Genome Research Institute in Bethesda, MD, told a recent meeting of science writers in Washington, DC. "And companies and individuals have begun to solicit directly to the public."

Collins noted several current ads that have appeared in a variety of magazines. One offered genetic testing to determine the risk for periodontal disease, another, placed by a surgeon, offered to test Jewish women for mutations in BRCA1, a breast cancer gene (Ashkenazic Jews have a surprisingly high 1% rate of BRCA1 mutations).

Here is a sampling of other recent developments concerning genetic testing:

• A panel of scientists convened by the National Institutes of Health (NIH) in Bethesda, MD, recommended that screening for cystic fibrosis carrier status be offered to all women and their partners and those planning a pregnancy. This is the first time an NIH-sponsored consensus panel has recommended wide-scale genetic testing to identify health carriers of a mutation.

• Federal and state legislators in 39 states have proposed a variety of legislation ranging from granting people ownership of their genetic information to requiring informed consent for any use of the genetic information.

One such bill, the Genetic Confidentiality and Nondiscrimination Act of 1996 (S.1898) has already been referred to the Committee on Labor and Human Resources.

• A multidisciplinary committee formed in early 1996 to study the ethics surrounding genetic testing for breast cancer released its recommendations in late November 1996 at the Third World Congress of Bioethics in San Francisco.

However, scientific and legislative developments alone do not guarantee the rapid spread of genetic testing — especially in the workplace. "I think there are going to be some major issues to overcome with regard to offering such screening in the work site," says Harris. "There may be some reservations as to how far employers want to go in offering medical services in the workplace. I recently talked about this with the manager of human resources at a large client of ours, and she felt these tests may go over the line for health promotion."

There are, of course, some good reasons to promote the use of genetic screening for employees, says Harris. The benefit of such testing, he notes, lies in having someone deemed at risk for a specific condition being given extensive counseling and education with regard to lifestyle factors. "Or for that matter, someone with the Alzheimer’s gene could receive counseling to get their financial status in order," he suggests.

Harris says he "could see [genetic testing] fitting into disease management" if confidentiality were maintained. For example, employees could be given a toll-free number to call if they are found to have a genetic risk factor. "In a lot of disease management programs we currently provide, employees are given a private number they can call to speak with health educators," he notes.