The Other Side of the Human Genome

Henri R. Manasse, Jr.

Disclosures

Am J Health Syst Pharm. 2005;62(10):1080-1086. 

In This Article

Introduction

Wisdom entereth not into a malicious mind, and science without conscience is but the ruin of the soul.
-- François Rabelais (c. 1494-1553)

The cascade of genetic discoveries and biotechnological innovations over the past half-century, culminating with the recent completion of the map of the human genome, will clearly and profoundly affect the development and use of drug therapy in the 21st century and beyond. Since the introduction of genetically engineered human insulin in 1982, both rumor and reality have promised a great many changes to the ways in which we investigate and treat illness. But what about the other side of genetic discovery -- the implications for how we view ourselves and each other, not as patients or research subjects, but as fellow citizens? What revelations and repercussions will we have to contend with as clinicians, scientists, and professionals engaged in public dialogue? What mistakes and triumphs from our past can inform our thinking and enlighten our approaches to these questions as the future unfolds?

On April 14, 2003, the International Human Genome Sequencing Consortium announced the completion of its 13-year effort to map the human genome.[1] The project came in under budget and ahead of schedule -- 2 years ahead of its anticipated 2005 completion and, poetically, 50 years after James Watson and Francis Crick's historic description of the double helix. The final map covers 99% of the human genome, sequencing its 3.2 billion base pairs at 99.99% accuracy. The project met or exceeded all of its research goals, mapping the genomes for not only Homo sapiens but several other mammals and other organisms as well.

The Human Genome Project, the U.S. component of the international consortium, was conceived in 1986 and officially began its work in 1990, funded jointly by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), and the U.S. Department of Energy (DOE). The involvement of NIH in the world's largest biology project seemed obvious, but why the DOE? The DOE's predecessor agencies, the Atomic Energy Commission and the Energy Research and Development Administration, were charged by Congress to study the implications of radiation-induced mutations on the human genome after the deployment of atomic weapons in World War II.[2]

The founders of the Human Genome Project, led initially by double-helix pioneer James Watson, realized at the project's inception that bound up in the discovery and dissemination of the "blueprint for life" are a host of attendant ethical, moral, and societal issues that cannot be examined in the domains of laboratory research and data processing. Recognizing that these issues demand their own arenas of public dialogue and education, Watson and his colleagues committed no less than 3% of both NHGRI's and DOE's genome-research budgets to implementing programs to investigate the ethical, legal, and social implications (ELSI) associated with the Human Genome Project. The key societal issues addressed by ELSI research include:

  • Privacy, confidentiality, and the fair use of genetic information,

  • Potential social stigmatization and personal psychological issues associated with genetic discovery,

  • Reproductive issues,

  • Clinical issues for health professionals and patients,

  • Cultural, philosophical, ethical, and religious questions, and

  • Commercialization of products and processes associated with genetic discovery and subsequent innovation.[3]

The ELSI research agenda reflects the often overlooked reality that science is only useful to us when we respect the humanity, the validity, and the values of those to whom it is applied. We seem always to be tempted to apply new knowledge to the world around us. As that knowledge becomes more potent and its application more profound, it is imperative that we temper our zeal for progress with the knowledge that we do not, in fact, know everything. We must always be conscious that this same zeal compelled our forebears to commit irresponsible, irreversible acts on the premise that they possessed not only the knowledge but the right to use science and influence to shape the world in their own image. We need to remain vigilant in ensuring that our travels on this particular path of inquiry are informed by the hard lessons of the past and guided by the compass of conscience and clear moral thinking.

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