Ethics and Genetics

On May 16-19, 1996, I was privileged to attend a conference sponsored by the Ethical, Legal and Social Issues (ELSI) related to the Human Genome Project (HGP). The HGP is an effort by the Department of Energy and the National Institutes of Health to map the human genetic system. The focus of this conference was Women and Genetics in Contemporary Society. A group of 60-70 women of all ages and educational backgrounds came together to discuss genetic issues that affect the lives of women and families.

There were many questions raised, some of which included: Can the money being spent on this project be used in a more productive way to help the people of this society and the world? Can society trust the government with this information? What good does it do a person to know their gene mutation if they already know they have a particular genetic disease? There were between 60 and 70 women at this meeting and 60-70 opinions on every issue. The HGP has the potential to do either harm or good to society at large. It is up to us all to see that the information gained from this massive $15 billion project is used for good.

I participated in two panels: Disability Concerns and Cancer Susceptibility.

Disability Concerns

The Disability Concerns panel included a nurse who is an associate professor who writes about medical ethics, and four other very accomplished women with various disabilities. Many on the disability panel felt that with increased prenatal diagnosis (PND) people with disabilities would eventually cease to exist. There are certain disabilities that a PND would detect that I do not think warrant pregnancy termination. Each of us would have to determine whether or not we could cope with what is to come. While I can understand their concerns, I look forward to increased PND because I feel it could help me. I would like children of my own. I do not want to bear a child with VHL if I can help it. I do not know where I would be if my Mom had had the option of PND. I like being in the world, I am here now and I have the option. These are very difficult questions that women and families are faced with today. Lots of thought has to be put into a decision and each one of us has to be allowed to do what we think is best for ourselves.

Cancer Susceptibility

The Cancer Susceptibility panel consisted of five members, two genetic counselors, two doctors of philosophy, and myself. One of the panel members had a positive family history of breast cancer. This panel discussed testing for the breast cancer (BRCA1) mutation found in some Jewish women, and for the von Hippel-Lindau (VHL) gene mutation. Here, too, there is lots of controversy. Once a woman is diagnosed with the BRCA1 gene, what can she do? There is no guarantee that she will actually get breast cancer. Increased mammography may increase her chances of actually getting breast cancer. Removal of the breast before breast cancer has actually occurred has not been proven to decrease the likelihood of getting cancer. The DNA test for this mutation is now being marketed to the public. Is this an ethical thing to do when there is no real cure and no way of preventing breast cancer? If a woman learns that she does not have the BRCA1 mutation, does this make her feel she is home free? Will she feel she is not ever going to get breast cancer? She may not have the inherited risk, but she still has the general risk that one in nine women will develop breast cancer.

Some families can now be tested for the VHL mutation. While there is no cure for VHL, management is possible and is something anyone with VHL should do. For me, knowing that you have VHL lifts the uncertainty. You do not know where the next tumor will pop up, but you do know that you have to keep an eye on the areas susceptible to VHL tumors. You do not actually have to know your particular mutation to know you have VHL. A doctor can make a diagnosis by reviewing films and pathology reports. Knowing one’s actual mutation is good for determining the VHL status of other family members, and eventually will help with childbearing options like preimplantation testing of fertilized embryos.

This conference did not make formal recommendations to ELSI. Each participant was asked to think about the next step she could take to address some of the issues raised in the meeting. These steps might take the form of speaking to a community or professional group or writing an essay. It was a gift to be allowed to take part in this conference and to be among this group of very well educated women.

As published in the VHL Family Forum, 4:3, September 1996. For permission to reprint, please contact the VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.