nyt

The New York Times
Sunday Arts Section
(with photo)

Q&A: Noel Schwerin

The Ramifications of Gene Mapping
By Nancy K. S. Hochman

NOEL SCHWERIN, a documentary film maker for the last 15 years and former associate producer for the NOVA science and technology series on the Public Broadcasting System, produced, directed and wrote “A Question of Genes: Inherited Risks,” which aired this fall on public television. Through several first-person stories, the film explores the conflicted decision of individuals at risk for heart disease, breast and ovarian cancer and Alzheimer’s disease to undergo genetic testing, and the practical and moral problems that their decision  and the findings  force them to confront. A Yale graduate, Ms. Schwerin grew up in Manhasset. While at PBS, she produced and directed sequences for films, including a film that explored the Exxon Valdez oil spill in Alaska and films that explored the medical training that doctors receive.

The process of identifying alterations in genes that cause and contribute to disease has been greatly expedited with the international launching, in 1990, of the Human Geneome Project. Its goals include locating, or “mapping,” each of the approximately 100,000 human genes, and, by the year 2005, to decode each gene’s molecular basis.

Q. You bring out in your film that the decision to undergo testing for a mutated gene can be a real loaded gun. What problems stand out most?

A. A fundamental and philosophical question is how much we want to know about ourselves and about how we view ourselves, our futures and our families. There has been a lot of speculation about what genetic technology promises but not that much about how it affects people and the way we live our lives. This information lives in a context that is much more dynamic and fraught with many more social, emotional and familial issues than most medical technology research.

Q. Are you talking about the interaction between genetics and environment?

A. We have a single gene, single disease model. With Huntington’s disease and Tay Sachs, if you inherit the gene, you’re going to get the disease. However, with most diseases, if you have a gene, you’re not necessarily going to get the disease, and if you do, the gene doesn’t predict how severe it will be. Complex disorders involve multiple genes and non-genetic influences in diseases like heart disease and cancer. The resignation or danger of loss of responsibility has to do with a misperception about genetic influence.

Q. If we test positive for a mutated gene, we can emotionally invest more power in that gene than it has?

A. The danger is that it can be an explanation for problems that should be dealt with in another way. Finding explanations in genes is very seductive because it lessens your responsibility. It’s a determinism that pre-empts activism. For example, lots can be done about heart disease, even if you have a gene.

Q. Are there additional problems involved in genetic testing?

A. I heard some unbelievable stories of people who would have loved to speak on the record but feared their family would be harmed by the loss of their job or insurance. But there are other costs as well. These decisions intimately affect the relationship to your family and your perception of the future. Think about someone you’re considering marrying, and whether their genetic background would be an issue for you.

Q. You also feature siblings in your film. After one sister finds out she has ovarian cancer, both sisters undergo genetic testing for BRCA1, a marker for both breast cancer and ovarian cancer. How was that relationship changed by the fact that one sister had the gene?

A. Genetics also has the power to redefine the relationship between siblings. The sister who has the gene feels isolated in the context of her family but feels relieved to know that the ovarian cancer she has is not her fault. The sister who does not have the gene is surprised to find she has a tremendous amount of survivor’s guilt. There’s a third sister in the family who has refusedto be tested at all. There’s considerable tension in that family around the question of testing. Genetic counselors say that this is not unusual.

Q. What other personal implications might the research have?

A. The research also has implications for our identity. The woman who was genetically tested for Alzheimer’s is incredibly self-possessed and strong. She still wonders whether her husband would stay with her after she found out that she is at highest risk for a genetic predisposition to Alzheimer’s. Being given powerful news about one’s future might cause one to question what we hadn’t previously.

Q. What are the benefits of knowing you have a mutated gene?

A. People go in for genetic testing so they can move on with their lives. If knowing you have a gene that predisposes you to a disease allows you to take greater responsibility for your health, that’s a positive thing. If the anxiety you have about whether you carry a gene is paralyzing, finding out whether you do have it can be liberating. It all depends on your threshold for uncertainty.

Q. In a medical milieu in which nothing can be done with the information we get or the options are controversial, what is the role of genetic testing?

A. For diseases in which we have some intervention and therapy, most people would argue that testing should be in the medical model. The question is, for Alzheimer’s, should this be a medicalized technology? Will people be better off for having taken the test. How are you served by knowing that you have an increased risk? Having access to technology is often a mixed blessing.

Q. What are the moral dilemmas of medicalizing a technology such as prenatal testing?

A. As you medicalize it, you create a value judgment. The broader implications here are, “Do we as a society have a stake in the decision to bring sick children into the world?”

Q. How are those implications being addressed through genetic testing?

A. Amniocentesis, which shows whether a child has Down syndrome or neural-tube disorders, are recommended for women over 35 who get prenatal care. This type of technology invites judgments about who decides what types of people should be born.

Q. Are there social benefits in findings that genes contribute to diseases to lesser or greater extent? Do you think that knowledge of genetics will increase tolerance or discrimination?

A. Whether an appreciation for diversity increases tolerance or whether it aggravates existing inequalities is the $64,000 question. All of us have genes that predispose us to disease to a lesser or greater degree. As researchers make increasingly broad claims about what genetics can explain, that information has the potential to stigmatize. Take for example, the claims about a gene for homosexuality. It’s easy to see how powerful and problematic genetic testing might be in that context. Researchers, by the way, have not been able to replicate these findings.

Q. Are there laws to protect people against the use of genetic information by insurance companies and employers?

A. Public health regulation is usually decided at the state level and different states have different legislative language with protection. There are currently a couple of efforts to draft legislation at the Federal level. Sometimes the protection is explicit and sometimes it’s not.

Q. Are there any stipulations protecting confidentiality when private companies pay for genetic testing?

A. There have been anecdotal cases in which people have been precluded from insurance because of family history and gene status. I don’t know whether insurance companies will ever ask for the results of genetic tests if you are looking to buy insurance, or whether if you get tested the information will go to the insurer. Whether health, life or disability insurance companies will ever require you to undergo genetic testing before issuing or upgrading a plan remains to be seen.

Q. Has there been any move toward private insurance companies covering genetic testing?

A. Private insurance is an interesting question. The insurance companies don’t know yet whether or how it will help them to know the percentage risk. Some people might contend that if we identify risk for everybody, we’re no longer sharing risk in an anonymous pool. If we’re all high risk, then the insurance system we have set up is less logical.