BRCA1 is a gene that suppresses tumor growth in such organs as the breast, ovary, colon and prostate gland, and if altered by a mutation will result in a very high incidence of cancer in that individual whose BRCA1 does not work properly. Scientists have estimated that a woman who has a defective BRCA1 gene has a 94% chance of developing cancer of the breast or ovary by the age of seventy.
Imagine then my concern when I read about the BRCA1 discovery. My wifeВ’s family history is riddled with stories of cancer including a father who died of cancer of the colon and a mother and aunt who died of cancer of the breast. In addition, there are other related family members inflicted with cancer.
For just a brief moment I wondered whether I should tell my wife of this new test. Should I agree with the old notation that ignorance is bliss and not burden her with this new information? Of course, I quickly realized that this new discovery might someday save her life. If she should possess an abnormality in her BRCA1 gene, she would have to consider several options including frequent mammograms or bilateral prophylactic mastectomies (which would reduce her chance of developing breast cancer dramatically), removal of her ovaries (which would affectively eliminate any chance of developing ovarian cancer), and frequent colon exams.
However, she would also have to consider insurance ramifications. If she tested positive, would she be required to place this information in her medical record and thereby risk someday losing her health insurance?
After discussing these issues with my wife we decided to explore the facts. First, I called the University of Pennsylvania whose lab was running the test and spoke to the woman in charge of the counseling and testing program. She was very helpful and informed me that we first needed to see a genetic counselor at Vanderbilt. Our counselor would obtain a family history called a pedigree and send it to the University of Pennsylvania.
If my wife was considered high risk enough for carrying a mutant BRCA1 gene then they would contact us and request a blood sample from my wife. We obtained the required genetic counseling and decided to enter the program. We sent the pedigree to Pennsylvania and we did what so many others do after medical tests . . . we waited.
The waiting seemed long. During that time we discussed how we would respond if the test turned out to be positive. We also discussed what we would do if it were negative. The BRCA1 gene is only a cause of 5% of all breast cancers. So we still had to consider our options even if the test showed no evidence of a mutant gene. The extensive information they had given us during our counseling session was helpful.
Yet it seemed to raise even more questions. Did we really want to know the answer? How would this process affect our lives as well as our hope for the future? Who in our family should we share this information with and if shared with family members, how would it affect their lives?
Finally, weeks after our initial counseling session they informed us that, yes, the University of Pennsylvania believed my wifeВ’s history was strong enough to be included in their research protocol and that we should now send her blood.
Somewhat relieved, we did as they told us and along with enclosing a considerable fee, we dropped the package with its precious cargo in the mail. This time they informed us that the testing would take 4-6 months but that as soon as the testing was finished and the results known, our genetic counselor at Vanderbilt would have us return for a counseling session to explain the results.
And so once again we waited. This time however, the level of anxiety was higher and more intense. One month felt like three and two months like six. Despite my background in medicine I was worried and concerned how we would handle this information. We asked ourselves more questions.
The day finally arrived when we heard the genetic counselorВ’s voice at the other end of the line, ending that portion of the waiting period. The results were in. Could we come to her office that next week to discuss the findings? The date was set and once again we did what we had done several times before, we waited. After our counseling session that next week we were given the results. We now had to return home and decide what to do next.
With this type of genetic information being made more and more available to all of us in the coming years, it will be important to understand not only the information and details of genetic discoveries but also the process. It is a process that starts with a question and ends with even more questions. Genetic information will be extremely helpful in answering many important medical questions that concern our health and our lives. However, because of the complexities and impact, the answers will raise even more questions, for ourselves, our families, and for society, as well.
(Frank H. Boehm, MD is a professor of OB/GYN and Director of OB at Vanderbilt Medical Center in Nashville, TN. He can be reached at his web site http://dr-boehm.com. Dr. Boehm resides in Boca).