The Challenges and Impact of Human Genome Research for Minority Communities

proceedings from a conference presented by
Zeta Phi Beta Sorority, Inc., National Educational Foundation
July 7-8, 2000, Philadelphia, PA

Zeta Background
Acknowledgments
Introduction
Foreword
Zeta NEF Purpose

Conference
Conference Mission
Conference Objectives
Research Plans
Conference Agenda
Conference Summary
Workshop I Summary
Workshop II Summary
Workshop III Summary
What's Next?
Photographs
Human Genome News article

Presenters
Dr. Aristides A. Patrinos
Dr. John Quackenbush
Dr. Georgia M. Dunston
Dr. Mary Kay Pelias
Dr. Fatimah Jackson
Dr. Christopher Adams
Dr. Rosalind P. Hale
Dr. Margaret C. Werner-Washburne
Rev. Dr. Deborah P. Wolfe
Dr. Jeroo S. Kotval
Betty K. Mansfield
Issie L. Shelton Jenkins, Esq.
Phyllis Griffin Epps, Esq.
Dr. Kathryn T. Malvern

Contact Information
Board of Managers
Presenters
National Educational Foundation

Good afternoon. I’d like to thank the ladies of Zeta Phi Beta for organizing this very important conference. It is a significant step toward educating the community about the Human Genome Project so that the people can maximally benefit from this major endeavor.

Molecular genetics is having an impact on virtually all aspects of life. I’ve been asked to speak today briefly on the topic of scientific and fold perspectives on heredity. This is, of course, a huge subject. What scientific and folk perspectives both have in common, however, is that that are both rooted in preexisting integrated sociocultural constructs.

Scientific insights have a folk background and folk perspectives often have some element of scientific veracity to them. My own training is at the interface of biology and anthropology, of the study of (biological) scientific perspectives and the study of folk perspectives. I am at that interface identified earlier by Dr. Patrinos that promises to yield great insights well into the 21^st century.

[joke about still waiting to get 2 salaries for being trained in two fields]

This afternoon we have seen visual depictions of what can go wrong when the genetic information is not faithfully replicated within an individual or between parents and their children. Dr. Pelias has presented this aspect of variation in vivid detail and yet what you have seen is just the tip of the iceberg. Every human group has its share of variation and diversity. Some of this variation will be pathological, as you have seen in the previous speaker’s slides, while most of the variation with a group will be nonpathological. This latter diversity will not significantly make a difference in one’s health or well being. It is simply "noise."

Distinguishing between pathological and nonpathological genetic variation is very difficult without linking particular genetic sequences to specific morphological changes. We are still a long way from understanding these relationships as it is clearly not the case that having an unusual gene automatically mean production of a defective protein and expression of a clinically significant condition. As Dr. Dunston referred to in her presentation this morning, the new molecular genetics is forcing us to rethink many of the old models. We are moving away from linear thinking and away from binary approaches. Molecular genetics is forcing us to think in new, integrative ways.

Tremendous variation exists among African Americans. This variation, which has historical and ecological roots, lay the foundation for the unique insights, inclusive thinking, and increased tolerance that characterizes many African American cultures. Our perspectives on heredity are shaped by historical forces such as the "one drop rule" that meant having only one African ancestor among many non-African ancestors still mandated that one was African American. Our perspectives on heredity are shaped by the diversity of African and non-African (European and Native American) ethnic groups that are part of our ancestral gene pool. Diversity in African origins, in particular, has increased our social and cultural tendency toward inclusiveness and away from exclusiveness.

It is not surprising then that African Americans have tended to view exclusiveness as a step toward disenfranchisement. While African American perspectives do not substitute for other groups, African American insights regarding genetics are important because African Americans have so frequently been the victims of "science" and "quasi-genetic inquiries."

My purpose this afternoon is to give you a population perspective, a cross-cultural orientation to the discussion. African American responses are extremely critical because our responses have tended to highlight areas that remain underemphasized by most academic bioethicists (whose values tend to reflect the folk and scientific perspectives of North Atlantic European Americans.) Academic ethicists have traditionally focused on the individual while African Americans have tended to focus on society and community. Dr. Murray, whom you heard from this morning, has made outstanding contributions in introducing African American-centered ethics and population thinking to the historical examination of sickle cell anemia.

[Give example of group vs. individual dilemma as exemplified in the recent tennis competition of the Williams sisters and the questions posed by the media to the winning sister.]

Regarding the Human Genome Project, African Americans were among the first to call for representative sampling. Dr. Dunston was among the early proponents of the inclusion of African American derived genetic sequences in the template for the Human Genome. Back in the early days of the Human Genome Project, Dr. Dunston and I were afraid that the absence of African Americans from the baseline genes for the Human Genome Project could produce binary models with the potential to concretize an official "human norm". This model would not only represent only a narrow slice of our diverse species, it could end up designation normal African American variation (that fell outside the narrow "norm") as pathological, defective, and in need of genetic remediation.

African American concerns are not a proxy for other ethnic and regional groups, yet they (African American perspectives and issues) serve as an invaluable window into some of the problems associated with American biomedicine. Some of American biomedicine has definitely been part of the "dark side" as Dr. Patrinos spoke of.

In January 1994, a small group of African Americans met to put together a Manifesto on Genomic Studies among African Americans. The six key points on this Manifesto are presented in the handout I brought for your review. This is a recent publication of mine entitled "African American Responses to the Human Genome Project." There are extra copies of this paper on the back table and here are a few reprints up here as well.

African Americans were not the only non-European peoples concerned with the Human Genome Project and will to produce a Manifesto in response. However, unlike the Manifestos of other groups (mainly Native American and other indigenous groups), African Americans were the only groups asking for inclusion in genomic diversity studies. We were asking for the engagement of African Americans at all levels of the research process. We were asking for reciprocity and a genomic research program that would address meaningful health and educational goals among African Americans.

We were not blind in 1994 and we are not blind now to the fact that groups, whose sequences are not represented in the Human Genome Project, are not part of the baseline template, and will not be addressed by the emerging field of pharmacogenomics. Intervention is the real reason for the Human Genome Project. Those missing African American sequences will not be considered by the big pharmaceutical companies intent on making commercial drugs linked to specific genotypes. This morning, a gentleman in the audience asked whose genome is being sequenced and this was treated as a trivial question. It was not and it is not trivial. It matters very much who comprises the Human Genome Project sampling base because these sequences will become the template for pharmacogenomics, toxicogenomics, and other new applied scientific fields dependent upon a sequenced human genome. The mission of the Human Genome Project was never just to sequence an "average" human genome. As I have pointed out many times in my publications, the Human Genome Project was sold to the U.S. Congress as a worthwhile and fundable project because of its direct implications for applied science. To state otherwise is to misrepresent the actual intent of the project. Believe me, the U.S. Congress is not paying for "science for the sake of science."

When we compare the position of African Americans as articulated by the Manifesto with the manifestos developed by other peoples around the world, we see other important differences. Our Manifesto call for the establishment of a National Review Panel – a watchdog organization to monitor genetic research to increase the probability that the genetic research conducted on African Americans is consistent with the needs of the African American community. For some outside our community, the idea of being monitored is disturbing. My position is that self-definition and self-control is (respectively) our right and our responsibility. We must educate ourselves about this project so that we can demand of it the information that it is capable of generating. Again, this is one more reason that this conference is so important.

Over the years, as an outside observer of the Human Genome Project, I have noted some important trends that we, as a people, should keep in mind as we seek to understand and have impact on this mega project. The Human Genome Project is a story with a rich and long history. The project is continually transforming and redefining itself in response to external pressures and events. Here are some points I'’ like all of us to keep in mind as we reflect on the presentations already given and those that will follow mine.

1. Genomic studies can be analyzed at many different levels. Things that are true at the molecular level do not necessarily translate into public health issues. We have to be able to distinguish what genetic variation is an important health concern for the group and what is an important individual health concern and what is just "noise in the system."
2. Inclusiveness cannot be assumed at any stage in the scientific endeavor. Exclusiveness is often the rule in American biomedicine and the pattern of sampling often reflects power relationships. For this mega project to reflect our concerns and priorities, we must make the demand for, as the great orator and abolitionist Frederick Douglass once said, "Power concedes nothing without demand, it never has and it never will…"
3. Representativeness (in the Human Genome Project database or otherwise) is not guaranteed by shared financial backing or even clear scientific merit. Scientists are products of their culture. If the culture (which is driven by folk perspectives) does not mandate the inclusion of Black people, then the science generated by members of that culture will not necessarily consider including African American genetic sequences either. For example, consider the case of Celera. Celera, in its race with the Human Genome Project to sequence the human genome, relied on only one individual sequenced three times. Representativeness was clearly not even a consideration! Science is full of imbedded cultural assumptions. Sometimes (actually quite often) folk perspectives drive scientific interpretations. The only way that I know to get around this is to increase the number of "others" doing science. Cross-cultural, multi-ethnic, interdisciplinary dialogue is essential to get around the bias that all of us have.
4. Open competition and private enterprise (associated with the "race to sequence") can have some beneficial effects and can encourage a certain clarity of purpose. As long as there is no competition, the real purposes of mega efforts often become clear. Remember from your geometry, it takes two points to make a line. This competition has allowed us, on the outside, to see more clearly which direction molecular genetics is headed.
5. Institutions often misrepresent themselves when under scrutiny. This is why we need to be engaged as a people in the Human Genome Project and any other project that demands so many resources from all of us. Our engagement can help keep everybody honest and our presence at the table can keep our issues on the research and policy agenda.
6. Finally, we should realize that even highly touted mega projects like the Human Genome Project can make omissions and can shift directions. For years, Dr. Dunston has lobbied our colleagues in both the Human Genome Diversity Project and the Human Genome Project to include African American sequences in their baseline databases. These efforts were not successful at this level, but they did secure the investment, at Howard University, of a National Genome Center that promises to make our issues and our concerns a priority.

Human variation is a paradox. We are diverse, but often not in the ways that we imagine. There is fundamental diversity within our subspecies, but there is also overwhelming essential unity. To suggest that we share 99% of our genes with chimpanzees misses the point. We share 26% of our genes with petunias! All life on this planet is interconnected and shows the signature of a single Creator God. Our task in the 21^st century will be to try to understand what both the diversity and similarity of each of us means. We will need the new technological tools of functional genomics and interaction biology but we will also nee fresh perspectives. I believe that these perspectives will benefit from African American insights, honed over generations of overcoming disenfranchisement.

Thank you.

Questions from the audience.