The Tip of the Iceberg: Predictive Genetic Testing for Breast Cancer

By Mitchell, Penni | Herizons, Spring 1999 | Go to article overview

The Tip of the Iceberg: Predictive Genetic Testing for Breast Cancer


Mitchell, Penni, Herizons


The Tip of the Iceberg: Predictive Genetic Testing for Breast Cancer

"There was bound to be a stage when we could identify people at risk and not be able to do anything about it. We are there now. We're stuck."

-Geneticist Dr. Marie Claire King, who identified the chromosome carrying the BRCA1 gene.

Until recently, bio-ethical debates about genetics were stuck behind the doors of academic conferences and confined to the pages of obscure scientific journals. For over 20 years, scientists have been aware of dozens of genes which have the potential to trigger cancer. However, it wasn't until the medical and commercial wrangling over a mutated gene associated with an increased risk of breast cancer erupted five years ago that the debate came out of the scientific closet.

During those same last few years, genes linked to cystic fibrosis, epilepsy, Parkinson's disease, Alzheimer's and even tendencies toward heroin addiction and obsessive-compulsive disorder have also been mapped out. Every other week, it seems, the location of another `defective gene' is announced by scientists associated with the $3 billion Human Genome Project, private bio-tech companies or university researchers, raising the hope that genetic therapy will soon be able to cure conditions and diseases.

Predictive genetic testing-that is, identifying genes which may escalate a person's lifetime risk-is just the tip of an iceberg made up of ethical, medical social, legal and commercial questions. Should predictive genetic testing be offered to individuals if there is no medical treatment to reduce their chances of acquiring a disease? Should a bio-tech company, a researcher or a university be allowed to lay claim to a piece of human life, in the same way a company takes out a patent on a soft drink formula? Are there conditions under which genetic screening should be offered or prohibited? Who pays, and most importantly, who decides?

The case of Fiona Webster, followed in the Globe and Mail last summer, framed predictive genetic testing as a `right to know' issue, and characterized her strong family history of breast cancer as `a curse.' The London woman went public with her bid to push the Ontario Health Insurance Plan (OHIP) to pay more than $3,000 to a private US company for the procedure, which would mean having her genes compared to those of other family members.

Webster didn't want to wait to have testing completed in Ontario, and OHIP refused to pay for expedited testing in a private US clinic. In Canada, genetic testing for BRCA1 and BRCA2 is available on a limited experimental basis to women in BC and Ontario who have a significant first generation family history of the disease. Because of licensing complications and a legal battle over the patents in the US, testing done on Canadian women is done on an experimental basis only; it can take up to two years to have DNA analyzed. The issue is indirectly complicated by the fact that Canada has so far refused to recognize patents on human genes, or on any higher forms of life.

The Utah company that Webster sought out is owned by Dr. Mark Skolnick, the geneticist who in September 1994 first isolated the BRCA1 gene. He quickly filed two patents in the US related to the gene--one on the `composition of matter' and the second on a `method of use' which would give his bio-tech company, Myriad Genetics, exclusive rights to license a test to be developed later. Not surprisingly, when the public got word of the discovery of a gene for breast cancer, the fact that women who have a mutated BRCA1 gene can't do anything about the gene somehow got lost in the hype.

Skolnick then horrified women's health advocates- the feminist contingent-when he began proselytizing that women who tested positive for the mutant gene might want to consider having their ovaries or their breasts removed, "to reduce their risk of dying as much as possible."

So great is women's fear of contracting breast cancer that doing anything may seem better than waiting, especially for women whose mothers or sisters have had the disease. …

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The Tip of the Iceberg: Predictive Genetic Testing for Breast Cancer
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