Essays on Science and SocietyGenome-Sequencing Anniversary

My Genome, My Identity, My Health

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Science  11 Feb 2011:
Vol. 331, Issue 6018, pp. 690-691
DOI: 10.1126/science.1203123

As a genetic counselor and human geneticist, I am in awe of the human genome—the nucleus of our field. Its potential to enlighten us about ourselves, our relationship to one another, and our place in the scheme of life makes it a distinctive reservoir for ground-breaking science and personal reflection.

Advances in genomics have taught us much about the biological underpinnings of disease. Nevertheless, the research itself is confirming that genome sequence does not tell the full story about human health and illness. Indeed, individual and group differences are the result of many variables. What is my socioeconomic status? Where do I live? Do I have supportive social networks? Access to health care? How do others perceive and treat me? Humans are so much more than a genome! If we truly want to decipher disease mechanisms and practice personalized medicine to achieve optimal health, we must adopt a more holistic approach.

Genomic research has also prompted new, and resurrected old, conversations about “race,” ancestry, ethnicity, and identity. The findings that human genetic variation is primarily continuous and that living humans have not subdivided into biological races (subspecies) mean that the (mis)use of the term “race” to refer to the groups and populations of national censuses and various geographical origins should cease. There are groups, populations, and lineages—defined in a variety of ways—but no human races.

My enduring dream is that, over the next 10 years and beyond, there will be an upsurge in authentic and critical interdisciplinary and transdisciplinary biomedical research that breaks with previous paradigms of categorical thinking. In this dream, droves of biological, social, behavioral, and clinical scientists are stepping out of their silos, reaching across the corridors, transcending lip service—maximizing our capacity to understand and prevent disease and to enhance the quality of human life. Our moral obligations and scientific integrity demand it.

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