Putting a Face on Genetics — A Matter of Perspective
Anita Duhl Glicken, MSW
As a 10-year-old child, Hannah sat pondering words that were unthinkable: “Your mother is gone.” Gone where? she wondered. Her world had irrevocably changed. Now, like her own mother, Hannah had lost a beloved parent to a mysterious disease. Suddenly, she found herself facing a future over which she felt she had no control.
As was characteristic of her parents’ generation, no one discussed her mother’s illness or explained multiple trips to hospitals. Her childhood misconceptions of what had caused her mother’s death were validated when she learned that family and friends had also been told that her mother had died from an infection contracted while cooking. It would be 10 more years before Hannah learned that both her mother and grandmother had succumbed to breast cancer in their early 40s.
As a young adult struggling with the threat of impending disease, Hannah learned everything she could about breast cancer. Regular visits to an oncologist and annual mammograms began at age 30. These provided little reassurance to Hannah or her physician, given their understanding that this aggressive form of cancer would likely spread too quickly to be detected in time for effective interventions. She waited patiently for the availability of genetic testing that would definitively answer whether she had been spared the genetic mutation and whether she too had unknowingly passed the risk of disease to her children.
Eventually Hannah became the sixth subject in a prospective study offering confidential testing for BRCA 1 and 2 genes, which have been identified as indicating an increased risk for breast cancer. She had a difficult time explaining to others the sense of relief she experienced when results came back positive. She could now make an informed choice about proactive treatments that could free her from the shadows that had clouded her days since childhood. Also, armed with knowledge that her children had a 50/50 chance of inheriting the gene, she now knew that they could also be tested when they were older, with the hope that new, less invasive options for intervention might be available.
Over the course of my professional career, I have heard similar stories many times. "Hannah’s" story is the most familiar to me because she is a member of my family, but her journey is not unique. We all come with our own variations of multigenerational stories and family histories. And these stories are likely to become an increasingly important part of medicine, as the science of genomics turns our family histories into powerful predictive and therapeutic tools. Last March, I was privileged to be part of a four-organization meeting (PAEA, NCCPA, ARC-PA, and AAPA) at the National Human Genome Research Institute to explore a potential leadership role for the PA profession in translating genomic science to medical practice. At the conclusion of this meeting, it was clear that PAs are uniquely positioned to play a critical role in quickly translating emerging science to patient care. PAs have long been recognized for their contributions to the health care team, particularly with respect to the value the profession places on complete family histories.
Since that first meeting, the four PA organizations have quickly and collaboratively moved forward with various projects related to genetics, as you may have read in the recent issue of our journal and elsewhere. And more is to come. One of the new features of our October forum will be a series of posters introducing you to stories like Hannah’s. This educational initiative, the “Face of Genetics,” is designed to heighten our awareness of the impact of genetic/genomic science and family history on patient care. Dr. Francis Collins, head of the Human Genome Project and one of the world’s leading scientists, will share his thoughts on personalized medicine and the role of PAs. You will also have the opportunity to participate in an exciting workshop by Michael Rackover and Connie Goldgar, who will detail an interactive genomics curriculum. This curriculum is available on the National Coalition for Health Professional Education in Genetics’ Web site and provides a valuable resource for genetics in PA practice.
Our spotlight on genomics is well-timed. The U.S. Surgeon General has declared Thanksgiving to be National Family History Day — an occasion for our patients to talk to their families and learn about family health issues, guided by a Web-based tool that organizes family history information and serves as a resource for future health care visits (http://www.hhs.gov/familyhistory).
At our October meeting, as you reflect on the faces and stories of the people in these posters, no doubt you will find threads that are equally compelling that resonate with your own experience. I hope that we can take the time to pause and reflect on the importance of our work, not only with individual patients, but as change agents in the health care system. The quality and efficiency of PA educational programs will help us to take an important leadership role in this effort.
Hannah’s now 25-year-old daughter Sarah recently had her first visit with a genetic counselor to review her family history. She called her mother shortly after the visit, relieved to learn that genetic testing wasn’t recommended until her late 20s and that the counselors had expressed their hope and expectation that by the time Sarah needed testing, new interventions, not yet imagined, might be available. As I reflect on the four generations of Hannah’s story, I am struck by the presence of hope and optimism about the future that was not possible just a short decade ago.
Whether you are the child, parent, family member, educator, or clinician, when it comes to family history, all perspectives and stories are valued and important. Educators are uniquely privileged, however, to have the opportunity to touch so many others. Through teaching and research, our students can quickly carry the emerging developments of medical science to clinical practice — a science that is rapidly changing the face of patient care.
I hope you will join us later this month as we celebrate our 40-year history as leaders in medical education with the promise of an equally exciting future. I want to express my personal gratitude to the members of our education committee, staff, and others who have committed a great deal of time and thoughtful effort to make this meeting something to remember.