DNA, The Link Between Past and Future
by Sue Friedman
It seemed appropriate that I celebrated my fortieth birthday and my five-year anniversary of being cancer-free by sitting in an auditorium at the Smithsonian Institution listening to the research giants of the twentieth century talk about DNA. The one-day symposium, Bringing the Genome to You, commemorated the 50th anniversary of the discovery of the structure of DNA and celebrated the sequencing of the entire human genome. The symposium highlighted DNA as the common thread that weaves through all life and links our genetic makeup from our ancestors to our progeny.
Superimposing the past, present and future of genetics, the symposium featured Dr. Francis Collins, current director of the National Human Genome Research Institute, who officially announced the completion of the Human Genome Project. Also present was Dr. James Watson, Nobel Award winning researcher and co-discoverer of the double helix form of DNA. Watson's fellow researcher and Nobel Prize winner, Sir Francis Crick, was interviewed on videotape reflecting on their achievement.
My interest in the celebration was both personal and professional. I had been diagnosed with breast cancer at age 33 and, after genetic testing, learned that I carried a hereditary mutation or change in my DNA that predisposed me to cancer. The genetic test that provided this information was one of the advancements made possible by the discovery of the structure of DNA and later by the sequencing of our genome known as the Human Genome Project.
In some ways I considered myself fortunate. Most cancer doesn't have a known cause, yet I was able to learn why I was predisposed to cancer. Although I was devastated to learn I carried the mutation, I felt fortunate to have the opportunity to take proactive steps to reduce my risk for further breast cancer and for ovarian cancer.
My response to my diagnosis was to find and connect with others who shared this risk of hereditary cancer and create a community in which we could understand and support one another. FORCE: Facing Our Risk of Cancer Empowered, a nonprofit organization for the high-risk community, grew out of my strong belief that no one should have to face the challenge of hereditary cancer risk alone. I had been invited to the symposium as the director of FORCE, to represent our high-risk constituency and to share in the celebration of these scientific milestones that had made such an impact in our lives.
Mentioned but missing at the symposium was Dr. Rosalind Franklin--the brilliant but often overlooked scientist whose x-ray photograph of the DNA molecule contributed substantially to Watson and Crick's successful characterization of the structure of DNA. While sitting in the audience, I reflected on Dr. Franklin's role in the scientific achievements that marked this half-century of genetic research. I decided to learn more about her, for I felt a debt of gratitude towards Franklin and the other scientists whose pioneering work laid the foundation for the genetic test that revealed my mutation.
The more I learned about Franklin, the more I understood that the connection between us was stronger than I had imagined. Franklin was of Eastern European Jewish descent and she, too, had a family history of cancer. Like me, and my grandmother before me, Rosalind was diagnosed with cancer at a young age. Like my grandmother, she died young of this dreaded disease. Franklin was only 37 when she lost her battle with ovarian cancer.
Those of us with hereditary cancer represent about 7% of breast cancer patients and 10% of ovarian cancer patients. In our population the disease tends to occur earlier, when women are less likely to be screened or when symptoms are less likely to raise an alarm, and thus our cancer may be advanced by the time it is diagnosed. Our lifetime risk for either cancer is many times higher than the general population's risk; and we are more likely to get multiple cases of cancer. Perhaps most ominously, our predisposition has implications for our children-both male and female-who may inherit the mutation from either parent and then pass it on to their children. But those who learn about their heightened risk for cancer in time are able to take steps to lower these risks. Though it is still imperfect, increased surveillance beginning at an earlier age can sometimes find the disease at a more treatable stage. Other risk-reducing options like medication or surgery can be more invasive or life-altering, but can also save lives.
Genetic testing represents a paradox: a reminder of our legacy of devastating disease but also the hope for a treatment or prevention that can finally break our chain of affliction. More and more research and medical care is focusing on assessing risk and on preventing and treating diseases using our genetic information for clues on how to best tailor care to the individual. This is a welcome improvement over the one-size-fits-all approach to health care of the last half-century.
While we wait for the genomic age to deliver on its promise of more effective and less invasive options for prevention and treatment of cancer, we can focus on educating others about hereditary cancer and the technological tools available to us now. Dr. Rosalind Franklin did not get to benefit from the advances resulting from her contribution to science. Neither did my grandmother. But, just as I have benefited from the collective genius of Collins, Watson, Crick, Franklin and many other scientists; I know that future generations will benefit, too, from the continuation of the research that began with the discovery of the nature of one molecule... DNA.
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