The Genom of Homo sapiens.pdf

GENOME RESEARCH: THE NEXT GENERATION 53Figure 3. A proposed role for the public sector in the early stages of the drug development pipeline. Previously, public sector effortshave been largely limited to the first step of target identification. Providing access to high-throughput screening for academic investigatorswill empower a whole new approach to understanding biology, and also will encourage the exploration of small-molecule approachesto the treatment of rare diseases.GENOMICS TO SOCIETYThe third floor of NHGRI’s blueprint for the future,Genomics to Society, is vital to realizing the visions of itsother two floors. If we neglect to consider the implicationsof genome research for society as a whole, peoplemay suffer unnecessary harm and society may not supportthe rest of these worthwhile efforts.Among the many complex ethical, legal, and social issuesthat must be addressed are how to enhance geneticprivacy and how to better protect against genetic discrimination.We also must gain a better understanding of the relationshipof genomics to race and ethnicity and then bringthis understanding to bear as a voice of scientific reason inthe often contentious dialog about race and ethnicity.One legal issue of particular interest to the biomedicalresearch community revolves around intellectual property.Many new types of genomic data sets will be produced inthe future. Consequently, we need to encourage the developmentof appropriate patenting and licensing practices tobenefit the public without stifling the intellectual atmospherethat gives rise to new scientific ideas and the marketplacethat develops and produces new therapeutics.Another controversial area centers on the ramificationsof advances in the understanding of genetic factors thatmay influence human behavior. A history of poorly designedassociation studies has tied certain genetic allelesto behavioral traits commonly perceived as negative, creatinga potential for stigmatization of individuals withsuch alleles. One purpose of producing the human haplotypemap is to help improve research design in behavioralgenetics so that the role of genetic factors is not oversimplifiedor overstated as it often has been in the past. Still,we fully expect that genomics will shed new and scientificallyvalid light on the biological roots of many types ofhuman behavior, and we as a society must develop strategiesfor integrating this newfound knowledge with existingviews of who we are.Applications of genomics that cross over the blurredline between treatment and enhancement will challengeour society, and the question must be asked (as it has beenwith human reproductive cloning) whether there areboundaries that should not be crossed. Furthermore, applicationsof genomics extend far beyond the fields of biologyand medicine to the legal system, the insurance industry,the military, and even educational institutions. Thereare no easy answers as to who should set the boundaries forgenomics applications or how these policies should be enforced.However, we need to start tackling these complexquestions today because some of these uses could radicallychange the landscape of life for future generations.CONCLUSIONSAfter operating in the “pre-genome” era for all of itsexistence, the science of biology officially entered thegenome era on April 14, 2003, with the successful completionof the Human Genome Project. However, thechallenge of truly understanding the human genome hasjust begun. A staggering amount of research and technologicaldevelopment remains to be done before we can