HUMAN GENOME PROJECT UPDATE -- 2005
Marcia Lasswell, Program Chair 1998
Some of you will remember our last meeting in Washington, D.C. in 1998 when the subject was The Human Genome. Things were pretty new then and I had been given the opportunity in the two previous summers of l996 and 1997 to spend some time with the Genome Project’s Educational Division at NIH. This was set up for educators and therapists to help us to understand how to serve our students and our clients who were beginning to need information for personal health decisions or for their work roles. I came back to my University in the fall of 1997 with a mission to develop a course for our Psychology students to inform them about the genetic science explosion. I did that and called the course “The Genetic Self” to personalize it for them around any questions they had ranging from inheritance factors involved with certain physical and mental health anomalies to how genetic fingerprinting was being used by the legal system and what questions are posed in the moral, ethical, and privacy realms. That first class went well and I asked Groves if I could chair the next conference to capitalize on my connections at NIH at the 1998 annual meeting to be held here in Washington.
The attendance at the 1998 Groves meeting was not as large as we had hoped and I know that many of you were unable to attend or maybe you chose not to since you may have wondered how the topic fit with Groves’ interests. Of those who did attend, many told me that they went back to their respective work with a dedication to introduce genetic information and the social issues that information raised which they had not been covering before. So, in numbers the meeting failed in my expectations but in impact, I believe it was a great success. From the Groves members survey that was taken about past meetings a year or so ago, it was gratifying to learn that the Genome meeting was ranked number one as the most memorable in recent years.
To update seven years later is a rather daunting task since each time I teach the Genetic Self course, I have to completely redo it since almost month by month new things are happening. I will try to hit the high points in the time I have today because it could take another conference to tell it all. I have kept current since the class is ongoing and I have attended some wonderful meetings with leaders in the field. Just year before last, we celebrated the 50th anniversary of the discovery of the double helix and there was a grand meeting in San Francisco sponsored by Time Magazine. I felt like a graduate student again as I talked to, ate with, sipped champagne with and listened to men and women who are legends. The only person who was missing was Francis Crick, one of the co-discoverers of the double helix with James Watson. He was too ill to make the journey and as many of you saw in the papers, he died very recently. James Watson was there and he added a lively note to the festivities. People attended from across the United States as well as the international partners who helped to determine the sequence of the genome and to identify the genes that it contains. They came from the United Kingdom, France, Germany, Japan, and China.
Everyday we come closer to understanding the blueprint for how humans and other animals are built. These discoveries have already had a major impact in the fields of medicine, biotechnology, and the life sciences. They are now beginning to be felt in the social sciences as well. Recently, Francis Collins, Director of the National Human Genome Research Institute at NIH, listed three major areas of focus for the future of genomics research: The first he mentioned is Genomics and Biology which will provide foundational information necessary to develop a comprehensive catalogue of all of the genome’s components, determine the function of all human genes, and decipher how genes and proteins work together in pathways and networks. Rapid progress in this area has caused observers to predict that biology will be the foremost science of the 21st century. The second focus he mentions is Genomics and health. The completion of the sequencing of the human genome which was done a year ahead of schedule in 2003, provided a unique chance to understand the role of genetic factors in health and disease. New applications are appearing daily to further prevention, diagnosis, and treatment. One of the most exciting developments in this area is something called pharmacogenomics which is the study of how genes affect a person’s response to drugs. The aim is to develop effective, safe medications and dosages that will be tailored to a person’s genetic makeup. Adverse drug reactions are a significant cause of hospitalizations and deaths in the United States. To learn how inherited differences in genes affect the body’s response to medications is a major step in creating a solution to this problem. A second aspect of the impact on health care is the realization that multiple genetic as well as environmental factors influence many common diseases such as diabetes, cancer, stroke, mental illness, heart disease, and arthritis, to name just a few. To try to understand these problems better, world partners are creating something called a “haplotype map” of the human genome to find the genes that combine to affect these diseases. The basis for this is the knowledge that sets of genes are involved and by identifying them, more efficient treatment will be possible.
Another field quickly developing is one called “nutrigenomics” in which diets are being tailored to the body’s exact needs. It is the study of how nutrition interacts with genes and how that interplay ultimately affects health. There is one center that I know of in Los Angeles, where I live, that offers eating plans tailored to clients’ genetic profiles. They look for variations in 19 genes that determine some of the body’s essential metabolic processes, including those believed to play a major role in cardiovascular health, insulin sensitivity, the ability to transform food into energy and dispose of waste, antioxidant capacity, tissue repair and bone density.
A third focus for the future mentioned by Francis Collins was Genomics and Society. This is the area that I am the most interested in because genomics has created new questions and with them new opportunities for exploring the ethical, legal, and social implications of research in our daily lives. Since its inception, the Human Genome Project has dedicated funds toward identifying and addressing the ethical, legal, and social issues surrounding the availability of the new data and capabilities. The New York Times (April 13, 2005, pg. A16) reported on a new five-year project funded by the National Geographic Society and IBM to sample 52 populations forming five major clusters of ethnic lineages corresponding to their continent of origin. For $99.50 anyone can send a cheek swab to learn which male or female lineage they belong to.
Studies include policy options on how the use of genomics will impact and be impacted by race, ethnicity, kinship, individual and group identity. It includes how we will define the “normality” of traits and behaviors and how personal genetic information will affect self-identity and society’s perceptions of those who have defects. Much thought must be given to what will be considered acceptable diversity should “designer genes” become possible. Questions such as the following will be studied: Who owns and controls genetic information? Is genetic privacy different from medical privacy? How can the public be educated to make informed choices? Should testing be performed when no treatment is currently available or when interpretation is unsure?
At this point there is clearly a great deal more work to do to realize such lofty goals. But there is great optimism among genetic scientists that they will meet these challenges. It is an exciting time to be witnessing the work that is going on and I continue to be amazed at the rapid progress that is being made. At our 50th anniversary meeting, the experts predicted that within the next ten years we will have knowledge and tools to implement that information that we could never have dreamed of just ten years ago.