Winter
1999
Early this decade, scientists set about a task of extraordinary hubris. They planned to determine the entire chemical makeup of the strands of DNA, the molecule that forms the foundation of life, in human beings. The Human Genome Project, as it is called, aims to localize the estimated 60,000-120,000 genes that each of us carries. The project has moved ahead with amazing speed. Using techniques developed for the Human Genome Project, research teams have already obtained the complete genetic sequences of fruit flies and worms, and have come within sight of completing the human genome sequence.
This coming understanding of our entire genetic heritage has potential value far beyond the laboratory. The work points the way to efficient new means of identifying and producing new drugs and matching them precisely to the patients who need them most. Doctors could eventually rely on their patients' individual genetic records when they prescribe drugs, thus avoiding allergic reactions and ensuring the most effective treatments. Genetics has plainly come a long way since it emerged as separate scientific discipline about a century ago.
Geneticists don't restrict themselves to activities that stem from sequencing. They now have a bird's-eye view of how mutations occur--from creatures as diverse as bacteria to digital organisms that exist only in a virtual world. They can advise parents who are in danger of bearing children with mutations that will render them physically and mentally deficient. Many geneticists, indeed, pursue their craft in intimate contact with, and to the essential benefit of, human patients.
One such geneticist is James Grifo '78, whose work combines genetics with in vitro fertilization (IVF), the technology that produces test-tube babies. His patients are parents with a high risk of bearing a child with a serious inherited disease.
"A lot of them choose not to get pregnant because of the high risk; they don't want to terminate a pregnancy," Grifo explains. So parents consult him about his method of diagnosing tiny, eight-cell embryos prepared by IVF before implanting those unaffected by the genetic condition. And in the initial interview they learn of the difficulties of undergoing the procedure, the cost (about $10,000 for the IVF procedure, although the embryo testing is free), and the glimmer of hope that it offers them.
Fresh understanding of human genetics also permits counselors to give couples reliable advice about their risks of bearing children with such conditions. Wendy Uhlmann '83 routinely advises families concerned that they will pass severe genetic disorders on to future generations. One of just 1,700 genetic counselors in the United States, Uhlmann must listen to her patients, trace and analyze their family histories, return with news good or bad, and find support for those facing problems.
Advances in genetics haven't come without controversy. Geneticists who work on evolutionary theory inevitably face pressure from the creationist movement, which denies the fundamental principles of evolutionary theory. The anti-abortion movement has effectively ended much of the research on human embryos in the U.S., and genetic counselors continually face issues of privacy--between patients and their insurance companies, among family members, and even between husbands and wives.
Nevertheless, genetics remains a compelling scientific discipline. In the following pages, Grifo, Uhlmann, and three other alumni outline their own experiences with genetics research and their personal contributions to this broad, burgeoning field. Their work covers past, present, and future, from understanding evolutionary changes that occurred eons ago to protecting the human germ line that may help ensure the stability of the hereditary makeup that we pass on to future generations.
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