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

As the awesome technological feat of sequencing the human genome nears completion, the more daunting task of deciphering the genomic text (i.e., the language of life) is just beginning. The emergence of the Human Genome Project at this juncture in the evolution of western sciences is not only impacting the way "we view" biology, but also how "we do" biology. Community education in genome science is the most compelling and potentially the most transformative challenge to 21^st century science and society. DNA sequence data coming forth from the Human Genome Project challenges prevailing constructs of human populations, which partition humanity into bounded ethnic and/or racial groups. Because natural variation in the human genome is the ultimate measure of biological relationship, it is a determinant of individual, family, population, and human identity.

The Human Genome Project is unique among the leading edge sciences in having as part of its initial core, a component to anticipate and address ethical, legal, and social issues emanating from the advancement of knowledge gained from the science. Because of inherent variation in the genome, the Human Genome Project challenges science to expand, (i.e., make more inclusive) the contest or measure of humanity in order to better understand the content of the human biology.

The Human Genome Project is forcing a paradigm shift in biology from the phenotype to the genotype, or from an "outside" to an "inside" view of biology and life. The transition from structural genomics to functional genomics focuses less on sequencing and more on understanding the significance of sequence variation. The importance of population variation in the genetic diagnosis, treatment and management of complex diseases cannot be marginalized or ignored.

The population that is used as the reference to locate abnormal (i.e., mutations) and natural variation (i.e., polymorphisms) is relevant to the identification and proper application of information emerging from DNA sequence variation. The African American genome is perhaps the most comprehensive single population resource for exploiting DNA sequence variation in the genetic dissection of complex diseases. As medicine becomes increasingly more customized, made to order, designer medicine, a more refined definition of the individual and population-based disparities in health will be required.

Let me preface my comments by commending Zeta Phi Beta Sorority for having planned such a well-timed conference. With the recent news on the cover of Time magazine, announcing the near completion of a ‘’Working Draft’ of the human genome, nothing could be timelier than this conference addressing the challenges and impact of human genome research for minority communities, specifically the benefits of genetic research in improving health and health care. As the awesome technological feat of sequencing the human genome nears completion, the more daunting task of deciphering the genomic text (i.e., the language of life) is just beginning. The organizers of this conference have shown great insight in planning a program that recognizes the major triumphs of the Human Genome Project (HGP) along with the sobering implications of how knowledge gained from this sciences is impacting society in general and minority health issues in particular.

Because so much of the current attention in human genome research is on the success of sequencing, I especially appreciate the recognition and attention that this conference directs to community education on genetics research and its relevance to minority health. As stunning and awesome as is the sequencing of 3 billion nucleotides in the human genome, community education in genome sciences is the most compelling and potentially the most transformative challenge to 21^st century science and society. Informed, educated, and activist communities will ultimately determine whether the billions of dollars expended in sequencing the human genome will usher in a new era of human liberation from the tyranny of disease, disability, and death due to complex diseases, such as diabetes, cancer, and heart disease – or whether the HGP will be remembered as the most expensive, self-promoting and exploitative venture in the history of western science and technology.

In addressing the topic of this panel, I want to focus your attention on the potential benefits of genetic research in improving health and health care by underscoring the links between human genome research, self-knowledge, and minority health issues. In my opinion, the formal beginning of the U.S. Human Genome Project in 1990 represents a defining moment in western science and human history.

My reasons for making this statement are twofold. First, the HGP perhaps like no other leading edge of western science, challenges scientist to expand, (i.e., make more inclusive) the context or measure of humanity, in order to better understand the content of human biology. Second, with regard to human history, sequence data emerging from the HGP challenges prevailing constructs of human populations which partition humanity into bounded ethnic and/or racial groups. At this, the dawn of the 21^st century, the HGP has extended the probing of biomedical science to the ultimate level of biological identity (i.e., unique DNA sequence variation).

Moreover, exploration of the human genome has introduced new prospects for understanding molecular processes underlying disease and disease susceptibility. Attention is now focused on DNA sequence variation and the challenges inherent in distinguishing sequence variation of biomedical interest (i.e., mutations) from the tremendous amount of natural variation (i.e., polymorphisms) of biological interest. Because natural variation in the human genome is the ultimate measure of biological relationship, it is a determinant of individual, family, population, and human identity. Studies on DNA sequence analysis show that populations differ in the frequency of both mutations of biomedical interest and polymorphisms of biological interests. Thus, the population that is used as the reference to many mutations and polymorphisms is relevant to the identification and proper application of information emerging from DNA sequence variation.

Let me direct your attention for a moment to the historic and evolutionary significance of completing the human genome sequence for humankind. I say historic, because completing the human genome sequence marks this moment in history as the ceremonial beginning of a new era of biomedical science, genomic medicine and the paradigm shift in biology to DNA-sequence based diagnosis and prevention of disease. I say evolutionary because – with the completion of the human genome sequence, comes a new knowledge-base for biology and biomedical science. A knowledge base that is as old as the origins of humanity and yet as new as the most recent gene discovery. This knowledge base connects all life and has the capacity to transform our most basic concepts of self and human identity. Thus, sequencing the human genome is not only applicable to biomedical science in the identification of genes of both clinical and non-clinical interests, but also to more fundamental questions of human identity and integrity. One of the major implications of human genome research for minority health issues is its potential impact on how we define ourselves.

The human genome is unique in that it is the fundamental level and expression of life. It contains all the information required for the construction, assembly, and operation of the human body. Thus, it is both a type of manufacturer’s Handbook and owner’s Manual. Because the genome is in all nucleated cells of the body and the body is encoded in every genome, the genome and the body are inextricably one.

The human genome is not only the most complex information system known to mankind, but also an unfathomable communications system, in which the four-lettered DNA sequence code is translated into "flesh" and dwells among us. As the "Book of Life," the genome contains the record of every human being that ever was and is and will ever be. It encodes both the laws of life and of creation. The knowledge contained therein is indeed unique. One wonders if science is not the instrument for revelation of this knowledge in our time.

The sequencing of the human genome has shifted the orientation of human knowledge from the outside appearance of things to the inside reality of life expressed at the molecular and cellular, or microcosmic levels. The HGP project also shifts the definition humankind from a population-based to a DNA sequence-based science. The characterization of DNA sequence variation in the human genome is not only applicable to human biology, but also to human identity.

The most salient feature of human identity at the sequence level is variation. Human genome sequence variation dispels the myth of a majority. At the level of the genome, every genome is unique; the norm is variation not uniformity, and the norm is best defined as a range of variation. As medicine becomes increasingly more customized, made to order, designer medicine, a more refined definition of humanity and the individual will be required. It remains to be determined how DNA sequence-based knowledge of self and group identity will impact minority health issue. Biological anthropologists and population geneticists are already mining the rich resources of natural variation in the human genome to reconstruct population history. Although no known biological product is encoded by much of the natural variation in the genome, it is nonetheless transmitted from generation to generation through the genome much like the genes that code for proteins, the functional products of genes. Natural variation in DNA sequences is a very rich source of information on family and population history. The results of research in areas of molecular evolution on gene genealogies in human populations are challenging old ways of characterizing racial and ethnic groups, which traditionally have been based on phenotypic, linguistic, and/or cultural differences. Anthropologists have estimated that less than 1% of the total gene pool code for the phenotypic characteristics widely used in the western world to classify human populations. In other words, the genes for physical appearance, such as skin color, eye color, and hair texture are an extremely small fraction of the approximately 3 billion nucleotides that make up the human genome. If DNA sequence based biology is to be science driven then scientists and the general public must better understand the public health significance of the vastly greater stretches of unexpressed DNA sequence variation. The genome era is also forcing a paradigm shift in biology. A shift that is not just a change, but rather a transformation in the way we define ourselves; the way we see ourselves; the way we see our world, and how we see ourselves in relationship to our world.

As an African American woman and trained human geneticist, I am aware of the narrow Eurocentric context in which much of human biology has heretofore been cast and of the history of exploitation and exclusionary practices of western science and biomedical research in communities of color. As part of the African American community and a member of the academy, I am convinced that the active participation of communities of color in general, and African Americans in particular will be a major factor in whether knowledge gained from sequencing the human genome will contribute to widening the gap or eliminating national and global health disparities between socio-economically and politically advantaged and disadvantaged people. I am therefore committed to realizing the benefits of genetics in public health and to the importance of connecting research, education, practice and community.

While the alleviation of disease is the prime motivation for the HGP, this conference focuses on the implications of human genome research for minority health issues. If health is recognized as "more than" the absence of disease, then human genome research must go beyond a focus on disease to a greater understanding of the "more than " implicit in health. Because an individual’s concept of identity frames his or her reality, I hypothesize that the study of disease in individuals and between groups cannot be uncoupled from an individual’s and/or group concept of identity. Studies of DNA sequence variation challenge the truth of perceived and believed links between human identity and biology that is inculcated in the U.S. culture. The social implications of uncoupling individual and group identity from biology are enormous. It remains to be determined whether attention to emerging knowledge of DNA sequence variation may effect a paradigm shift in our understanding of individual and group identity. Knowledge gained from the human genome is unique in it capacity to liberate science and society from constructs of biology based on a very limited and incomplete picture of the human identity. If sickness and disease results from incomplete and distorted concept of human identity – then it remains to be determined whether wholeness and health would follow after a more comprehensive construct of biology based on more complete knowledge of the human genome.

It is now, that America is challenged nationally to close the gap in health status between majority and minority populations. There is indeed much to be learned, when we see human variation as a gift and not an aberration. It is noteworthy that knowledge of population differences in profiles of variation in the human genome, coupled with knowledge of the broader spectrum of natural variation in the genome of African people, underscores the critical importance of the population reference in human genome research. Understanding the "language of life" encoded in DNA sequence variation is indeed the braved new frontier of whole genome science, genomic medicine, and public health. Genomic research in African Americans and the African Diaspora offer unique resources for understanding human genome variation. Because the African American genome brings together the depth and breadth of DNA sequence variation resident in African populations with evolutionarily more recent profiles of variation contributed by admixture with Europeans and Native Americans. The African American genome is perhaps the most comprehensive single population resource for exploiting DNA sequence variation in the genetic dissection of complex diseases.

Let me close by commenting briefly on Genomic Research in African-American Pedigrees (G-RAP). This is a concept for human genome research initially proposed by investigators at Howard University contemporaneously with the beginning of the first five years (FY 1991-1995) of the U.S. Human Genome Project. G-RAP focuses on DNA sequence variation as the foundation of biology and biomedical science.

The long-range goal of G-RAP is to improve the health status of African-Americans through research on DNA sequence variation and the application of knowledge gained from research to better understand the biomedical significance of gene-based differences already known to exist among populations in immune response to organ transplants, susceptibility to diseases such as diabetes, sensitivity to drugs, cancer, and the influence of environment on health. G-RAP provided a research foundation for the newly formed National Human Genome Center at Howard University. The purpose of this National Center is to bring multicultural perspectives and resources to an understanding of human genome variation and its implications for health and life.

Our mission is knowledge driven – to explore the science of and teach the knowledge about DNA sequence variation in the causality, treatment, and prevention of diseases common in African Americans and other peoples of the African Diaspora. By addressing population variability in the human genome, the NHGC brings a depth perception to the linear perspective of human biology. The implications of this more enriched construct of human biology in improving health and health care will be determined not so much by the science as by the scientists and not scientists in isolation but in community.