The Human Genome Project

By Tanis Doe

Many people with disabilities are poor. Equipment and services for people with disabilities cost money. Despite some newly introduced tax breaks, there are widespread cutbacks in services to assist people with disabilities in living independent and fulfilling lives. Apparently, we cost too much.

Economic crises of debt and deficit face governments at several levels throughout North America, yet one project continues to bring millions of dollars into an international initiative. Although based primarily in the United States, the Human Genome Project is an international effort which began in 1990 to discover the up to 100,000 human genes and to determine the sequence of three billion DNA subunits.

This $15-billion initiative has a global impact. And it is particularly important for people with disabilities to understand it, because the project is creating knowledge that is being used to discriminate on the basis of disability. Although a very small proportion of people with disabilities are born with genetic "conditions," the interest in prevention of disability is growing among genetic researchers and clinicians.

From the Frequently Asked Questions page on the Human Genome Project’s website (http://www.ornl.gov/hgmis/):
"Genes involved in various genetic diseases will be found through the Human Genome Project, and further studies will lead to an understanding of how those genes contribute to genetic diseases. Among these diseases will be the genes involved in cancer. One set of studies examined issues surrounding genetic testing and counselling for cystic fibrosis (CF) mutations. Results from this consortium led to proposals about preferred methods for providing CF testing to those who desire it... Last year, a second major effort in introducing genetic tests was initiated with a set of projects to examine testing and counselling for heritable breast, ovarian, and colon cancer risks. Issues include interest in, demand for, and impact of testing as well as alternative ways to provide the service."

While most disability-rights activists encourage research to prevent and treat cancer in living people, there are serious concerns about the prevention of births of people who may or may not develop disabilities. The application of the "discovered" genes to prenatal testing in particular is a major controversy because the gene indicates a predisposition to, and not the status of, any given condition. If genes for "mutations" are identified, there will be a social and medical impetus to abort a fetus carrying this gene -- or, at the very least, to fix the mutation.

Already, amniocentesis is used routinely to determine if a fetus is likely to have spina bifida, Down syndrome or hemophilia, and there is an entire profession of genetic counselling that specializes in dealing with the issues around genetic conditions.

It is also big money. Private laboratories specializing in genetic testing, lawyers, counsellors and even physicians are tapping into this expanding market of potential parents who want to use new technologies to obtain information about their offspring. Yes, there is a market, both in Canada and the United States, of people wanting this information and subsequently acting on it.

One woman, who used abortion to terminate a fetus with a chromosomal abnormality, said: "I know that our little baby girl is at peace -- that she did not have to deal with all the difficulties confronting retarded children. We are very much at peace with our decision."

Parents who decide not to abort despite "fetal abnormalities" must face social and medical pressures and even guilt for bringing into the world a child that "suffers." Support systems and community resources that are in place for families of children with disabilities are vastly underfunded compared to the systems designed to screen for fetal abnormalities and to terminate pregnancies.

The Royal Commission on New Reproductive Technologies ended its work in 1993, but the work of genetic scientists and practitioners continues today without significant legal or regulatory mechanisms. The Canadian Disability Rights Council submitted a list of recommendations to the commission, including the impetus to "remove the eugenic component" from the new reproductive technologies and to "unequivocally affirm the centrality of the Charter of Rights and Human Rights Law."

DisAbled Women’s Network (DAWN) Canada also held a national conference, in cooperation with the National Action Committee on the Status of Women, in 1994 to discuss the urgency around new reproductive technologies and the rights of women with disabilities.

On the one hand, organizations of women with disabilities are concerned that the "choice" arguments are being used to devalue the lives of people with disabilities and to promote abortion of fetuses in which a disabling condition has been detected. The argument often raised is that once a pregnancy is a wanted pregnancy, disability should not be the factor contributing to termination, yet all women should retain the right to choose when to be pregnant.

On the other hand, activists representing women with disabilities also want equal access to the new technologies now available, such as in vitro fertilization. Too often discriminated against in other aspects of life, women with disabilities want access to the opportunity to be mothers. The technologies now available to women in general should not be inaccessible on the basis of disability in the applicant.

The Human Genome Project brings new controversy to the issues of selective abortion, prenatal diagnosis and reproductive technologies in part because it will affect adult women and men with disabilities, as well as future generations.

Although many women with disabilities have been denied choice and forced to undergo sterilization or abortions, there are far more adult women without disabilities who have undergone prenatal testing and chosen to abort. In the vast majority of testing, the mother is able-bodied, has very little prior knowledge of disability, and is making the decision to abort or continue her pregnancy based on information provided by medical professionals on the possible status of the fetus. With the availability of genetic testing, adult men and women who have disabilities that are genetically transmittable may be prevented from receiving services that would enable their reproductive choices.

Once genes responsible for specific conditions are known, this knowledge can be directly applied for the purposes of discrimination. These "conditions" could include, just as an example, predisposition markers for obesity, sexual orientation and short height.

Legal and insurance professionals are making it more and more difficult to get medical care for a child whom parents knew in advance would have a disability. "Wrongful life" and "wrongful birth" suits in the United States are based on the concept that children with disabilities should not have been born, and that their birth could have been prevented if proper genetic screening had been used. Insurance companies deny services to children born with "pre-existing conditions," thus threatening the medical and financial support of children born with a disability and imposing an enormous burden on the family.

Although universal health care in Canada does not yet deny insurance coverage to infants with disabilities, the issues of whether to treat such an infant and provide food to her, and even questions of euthanasia, have recently been brought to public debate.

Doctors and clinical genetic counsellors have even more pressure on them to detect fetal "abnormalities" and to provide the information necessary to help the affected couples decide what’s best. In most cases, what’s considered "best" is terminating the pregnancy in consideration of the financial, social and personal hardship of caring for a child with a disability -- done, of course in the "best interests" of the child.

Activists with disabilities strongly object to the constant devaluing of life with a disability. They argue that genetic counselling is biased and that it ignores the social construction of disability.

The Human Genome Project is not unaware of the possible moral and legal implications of its research. In fact, its website provides information as to the study of ethical, legal and social issues (ELSI). They even set aside up to five per cent of their total annual budgets for ELSI.

Dr. Marsha Saxton, a feminist who lives with a disability and currently holds the position of Ed Roberts Post-Doctoral Fellow with the World Institute on Disability in California, is one of the leading activists in the United States. She coordinated an event last year, funded through ELSI, to bring disability rights proponents and clinical genetic professionals together. These strange bedfellows engaged in dialogue and confrontation to deal with the value differences and practical implications of preventing disability in future generations.

Dr. Saxton writes, "Those who challenge selective or eugenic abortion claim that people with disabilities are the ones who have the information about what having a disability is like. The medical system, unable to cure or fix us, exaggerates the suffering and burden of disability. The media, especially the movies, distort our lives by using disability as a metaphor for evil, impotence, eternal dependence, or tragedy -- or, conversely, as a metaphor for courage, inspiration or sainthood."

The conference was an opportunity for women and men living with a disability to speak out on the issues of genetic testing and selective abortion. They were not speaking directly to mothers facing the testing process, but were definitely addressing those gatekeepers who deal on a daily basis with the parents who seek reproductive and genetic services.

People with disabilities have a vested interest in promoting the value of human variation. And, as adults, they can speak for the children with disabilities who need resources and support to grow into adulthood.

The Human Genome Project is a train travelling at high speed to an unknown destination, and it may injure some people in its path. It is unlikely that brakes will be applied but people with disabilities may be able to offer signals for direction and information to parents and professionals now considering buying a ticket to ride.

(Tanis Doe, Ph.D., is a disability rights advocate living in Victoria, British Columbia. She can be reached at ud944@freenet.victoria.bc.ca.)