Seattle Post - Intelligencer (Apr 17, 05:26 AM) Society has seen major advances in medical practices this century. Fifty years ago, scientists discovered the structure of DNA - the building blocks of life. Today, rapid advances in the field of genetics are raising urgent ethical questions for society.
What do these discoveries mean for you and me? While the future of these discoveries remains very hopeful, one thing is certain: Increasingly, we will be faced with the option of pursuing genetic evaluation or testing for ourselves, or for our loved ones, for a variety of reasons.
The Washington Department of Health is conducting a series of "living room forums" around the state aimed at sparking discussion of these issues. The project, supported by a federal grant, aims to get people talking and sharing their views within the community.
Recently in Seattle, several friends and family members gathered at the house of Kumar Shahani to discuss their thoughts and questions about newborn screening and how it might affect their lives, jobs and families.
The results of the Seattle forum echoed the concern on the minds of many state residents: Who should decide what diseases newborns should be tested for? Who should have access to the test results or leftover blood spots? Who should pay for newborn screening tests? And how could the results of newborn screening affect the families?
In the view of Angie Gibson, an expert genetic counselor who was present to assist the discussion, one reason for asking these questions is a new type of technology called tandem mass spectrometry that allows for the detection of many different metabolic disorders with one small dried blood spot sample. However, some of the conditions that can be detected do not have cures or effective treatments, criteria that are typically necessary before population-based screening is performed.
The group was presented with a realistic scenario of an expectant couple given an option to have genetic testing done by a private company in addition to the screening done by the state on all newborns. Since some of the diseases included in the private testing service are incurable or untreatable, the parents must face the potential situation of finding out their child might have such an illness before any symptoms appear.
Faced with this scenario Robert Gelding of Seattle stated, "I would want to know it even if there's not a treatment." Arlayne Eseman agreed, adding that one of the benefits "is that if you know, then you become an advocate. It's like in the movie `Lorenzo's Oil.'"
Yet while participants such as Eseman felt that "knowledge is good when you're a parent," another group member expressed concerns about whether parents could handle the information. Responding to that, another participant in the health care field added that counseling and other resources should be offered in conjunction with the testing to help parents cope.
Discrimination was another issue the group pondered. Gelding raised the concern that once a genetic condition or predisposition to illness was discovered through testing, parents may have difficulties finding health care coverage for their child if the results were released to insurers.
Another participant brought up the fact that testing could lead to social stigmatization as well.
The group was split on whether research using leftover bloodspots should keep the identity of those samples anonymous or require the results to be disclosed to parents if the parents would like to know. One participant was concerned that such requirements to disclose could "double or triple the cost of the study and then maybe you can't fund as many studies or they take longer to do."
The participants were also concerned about the liability that test results might bring to parents. "You're going to be having the children looking at the parents and saying, `You didn't keep me on extra fiber and I developed colon cancer. It's your fault so I'm suing you,'" said one Seattle resident. Eseman was concerned that the state might be deemed negligent if it didn't run all the tests it was capable of running in the case of tandem mass spectrometry testing.
Overall, the group felt that genetic testing is a good thing but that risks must be considered. In short, genetic testing has the potential to be both friend and foe. What will make the difference is the knowledge that will allow us - individually and as a nation - to turn testing to our advantage.
Opinions gathered at the forums and online will be shared with health researchers and policy-makers around the nation. The Washington State Department of Health Web site (www.doh.wa.gov) provides the opportunity to offer comments online.
Kate Nickel is a graduate student in the Institute for Public Health Genetics at the University of Washington.
