Biotechnology and the New Genetics
What it Means for Women's Health
The Human Genome and Genetic Research
"The problem with gene research is the same as its beauty. Its intellectual simplicity, its satisfying resolution of baffling medical puzzles with logical molecular explanations, creates the illusion that it will provide us with easy answers to larger human problems....We are who we are not just because of what our genes contain, but because of what has happened to us since our birth and how we use that unique genetic endowment day after day. " [16]
Genes are segments of DNA (deoxyribonucleic acid) that specify one or more functional products, such as proteins. Genes are a major means by which similarities and differences in biological traits are passed on from parents to offspring.
The Human Genome Project, an international scientific project begun in October 1990, has propelled the issues surrounding genetic testing into the common household vocabulary. A key goal of the Project was to map all of the approximately 50,000 to 100,000 human genes, determining where they are located on the chromosomes, and making them accessible for further biological study. In June 2000, the roughly 90% complete sequence of the 3 billion human DNA bases was announced to the world. Although this June 2000 announcement has been heralded as one of the most important scientific discoveries of all time, it is a very early step in understanding the human genome. The next phase of the Human Genome Project will focus on producing a 'functional genetic map' that describes how genes function; this is still decades away.
Canadian philosopher and ethicist Susan Sherwin has raised the need for caution in how we embrace the Human Genome Project.
"The Human Genome Project is anticipated to generate the capacity to engage in a variety of problematic practices that also threaten to have a profound effect on Canadian values. Researchers are…. pursuing the supposed genetic basis of various behaviours such as homosexuality, shyness and criminal tendencies. Before supporting development of further genetic tests we must address a variety of difficult questions: who wants to know this information and what is their interest? What use is to be made of this sort of genetic knowledge? What sorts of conditions should be treated as acceptable grounds for terminating fetal life, for becoming ineligible for certain types of employment, or for denying access to affordable medical or life insurance" [17]
With a growing focus on diagnosing genetic diseases and disorders, it is easy to be lulled into thinking that genetic testing holds great promise for improved health. Indeed for some of those who have access to these tests, it may hold some promise. For example, genetic screening to identify those who carry a single copy of a gene associated with Tay-Sachs disease, an inherited and often fatal condition found predominantly in Ashkenazi Jewish and some French Canadian populations, allows those carrying it to receive genetic counselling about risks to children and, if appropriate (i.e. their partner also carries the gene) and they request it during pregnancy, prenatal diagnosis. There are, however, some facts to remember when we think about genetic testing, whether it is for pregnant women, for newborns, or for adults. First, to learn that something is associated with a detectable DNA pattern does not mean that the person carrying the gene will inevitably develop that disease. Nor will this knowledge allow one to predict how complicated or severe the condition will be if it does occur. The genetic nature of a disease is complex: some gene-associated diseases are not inherited but rather result from a mutation in the single egg or sperm cell that results in the development of an individual; some are the result of mutations within specific cells after development is underway. Moreover, even when a DNA pattern associated with increased susceptibility to certain disabling conditions is detected in prenatal life, it may require products from other genes and biological processes for a problem to develop. This is the case for cancer. For many cancers to develop, a cell must undergo several (probably 5 to 10) separate gene mutations. Some of the mutations might be inherited, but some occur from exposure to gene-damaging substances in the environment. We do not fully know how much of each factor is at play and how the two interact. With a growing focus on diagnosing genetic diseases and disorders, it is easy to be lulled into thinking that genetic testing holds great promise for improved health. Indeed for some of those who have access to these tests, it may hold some promise. For example, genetic screening to identify those who carry a single copy of a gene associated with Tay-Sachs disease, an inherited and often fatal condition found predominantly in Ashkenazi Jewish and some French Canadian populations, allows those carrying it to receive genetic counselling about risks to children and, if appropriate (i.e. their partner also carries the gene) and they request it during pregnancy, prenatal diagnosis.
There are, however, some facts to remember when we think about genetic testing, whether it is for pregnant women, for newborns, or for adults. First, to learn that something is associated with a detectable DNA pattern does not mean that the person carrying the gene will inevitably develop that disease. Nor will this knowledge allow one to predict how complicated or severe the condition will be if it does occur. The genetic nature of a disease is complex: some gene-associated diseases are not inherited but rather result from a mutation in the single egg or sperm cell that results in the development of an individual; some are the result of mutations within specific cells after development is underway. Moreover, even when a DNA pattern associated with increased susceptibility to certain disabling conditions is detected in prenatal life, it may require products from other genes and biological processes for a problem to develop. This is the case for cancer. For many cancers to develop, a cell must undergo several (probably 5 to 10) separate gene mutations. Some of the mutations might be inherited, but some occur from exposure to gene-damaging substances in the environment. We do not fully know how much of each factor is at play and how the two interact.
Currently, genetic testing is being sold as a choice to which women are all entitled. Those doing testing seem to feel that by allowing women to give what they call "informed consent", whether this be in a research study of testing or in a clinical setting, they as "testers" are free of any further responsibility. However, is it possible for a woman to give full and informed consent if she does not have all the information needed to consent? Many of the tests are looking for variations in DNA associated with conditions for which there is no known, or no effective treatment. Others, by identifying a woman who will then be seen as at greater-than-average risk of developing some disorder, may lead to discrimination against her. In these situations, knowing one's status may not be seen as useful or helpful.
The women's movement has argued for years that our options (particularly relating to reproductive issues) have been restricted, therefore we need more choice. This in turn can make it difficult for someone to reject the offer, the "choice" of a test. However, health is not simply a consumer choice, and "choice" is not the basis on which to base these arguments. Informed choice hinges on who is offering the test as well as a full understanding of what the purpose is of the option, and on a woman's ability to act. If the information only comes from those who stand to gain (financial profit, academic success, reduced health care costs, etc.) from the use of the new technologies, then we know all sides are not being represented. Moreover, as Abby Lippman notes:
"…what seems to be a personal choice (e.g. to have prenatal testing, to take tamoxifen) may really be merely a substitute for societal failures to provide what I truly need (the resources - financial, social, supportive) that would allow me to mother a child with Down Syndrome; the guarantees that the water I drink is not polluted with harmful chemicals." [19]
Genetic Testing and People with Disabilities
Advocates for people with disabilities have argued that genetic testing is a form of discrimination against disabled people. They point out that we are already a long way from collective acceptance of disability as an expression of human variation, and that the emphasis on genetic testing will only set us back further. Catherine Frazee, Canadian disability rights activist and Chief Commissioner of the Ontario Human Rights Commission from 1989 to 1992, made this observation when studying all the documentation related to the Canadian Biotechnology Strategy:
"…[the word] disability appears nowhere in the documents that highlight the strategy's features, benefits, guiding principles, goals, development and progress…. It is alluded to…. It is implied, surely.… But the shadowy foe never declares itself." [20]
Advocates for the disabled also fear that people who decline to be screened might be discriminated against. Dr. Ruth Hubbard, a scientist at Harvard University, has argued that genetic testing perpetuates the idea that it is more beneficial to society for certain people to have children than others, and for them to have only certain kinds of children. When the Human Genome Project made its announcement in 2000, the Canadian Down Syndrome Society released its official position calling for "regulation and research protocols for genetic testing and gene therapies that will protect the dignity, worth and equal rights of all people, regardless of handicap or disability". As the Human Genome Project generally and genetic testing in particular receive more and more public attention, we can expect advocacy groups for people with disabilities to become even more vocal about what this means for them. Genetic testing runs the risk of leading us into thinking that a wide range of human problems can be prevented or cured once science learns how to identify and manipulate our genes. Along with many others, Ruth Hubbard has argued that this way of thinking puts far too much emphasis on heredity and keeps us from addressing critical health problems caused by the environment, and by social, political and economic factors.
Focus:
Genetic Testing for Breast Cancer
All women carry some form of the BRCA1 and the BRCA2 gene. When the gene
is in its most common form, it is believed to keep cell division in check;
when it is in a mutated form, cell growth can turn into cancer. Certain
genetic mutations in BRCA1, BRCA2 or other genes, some of which may be
inherited from a parent, may increase the potential for an individual
to develop breast cancer.
When the first so-called "breast cancer gene" was isolated in 1994, the discovery was seen as a very important advance for women. However, consumer groups and breast cancer organizations have been quick to point out that only 5-10% of women with breast cancer actually carry the mutated BRCA1 or BRCA2 gene, and for those who do, one or more environmental triggers are required for the disease to develop. Similarly, less than 1% of women in the general population carry this mutation, so the actual numbers of women who are good candidates for testing is relatively small. Nevertheless, it is understandable that many women with a strong family history of the disease (e.g. they have two or more first degree relatives -- mother, siblings, offspring who are affected) may be eager to have this test.
Organizations that advocate for women with breast cancer (such as the Canadian Breast Cancer Network and Breast Cancer Action Montreal) have been working hard to try to influence policy about this controversial test. They have helped to educate the general public about the limitations of the test, and have pointed out that interventions to predict, detect and treat breast cancer are second best to preventing the disease.
These advocates stress that women who
are found by testing to have a mutated gene need to be aware of the following:
[16] Lois Wingerson, Unnatural Selection: The Promise and the Power of Human Gene Research, New York: Bantam, 1998.
[17] Presentation by Susan Sherwin, "Biotechnology and Health: The Place of Ethics in a National Strategy", at "New Technologies in Health Care", Congress of Social Sciences and Humanities, May 30, 1998, Ottawa.
[18] For more information on some of the concerns associated with tamoxifen and raloxifene, see "Medical and Non-medical Approaches to Disease Prevention", a background paper prepared by Sharon Batt for the Working Group on Women and Health Protection; to be posted on the Working Group's website in late 2000 (go to www.web.net/~desact, and click on "Health Protection").
[19] Abby Lippman, working notes for workshop, "Canadian Biotechnology Strategy: Assessing its Effects on Women and Health", February 2000, Toronto.
[20]Catherine Frazee, "A Rough Reflective Sketch" for workshop, "Canadian Biotechnology Strategy: Assessing its Effects on Women and Health", February 2000, Toronto.
Biotechnology
and the New Genetics: What it Means for
Women's Health
© 2001 Working Group on Women, Health and the New Genetics