Look into the Future

Genomics

Research Opportunity		Forecast
Refine complete list of all human genes, functional RNAs, and proteins		Thousands of new drug targets for heart disease, cancer, diabetes, asthma, etc. Understanding of how genetic mechanisms give rise to complex biological structures such as organs, organ systems, and unique body plans
Define regulatory signals that affect expression of all human genes in normal or abnormal state		Therapies for developmental defects Precise molecular analysis of malignancies and other disorders of gene expression, guiding the choice of therapy
Define all common variants in the genome, determine hereditary factors in virtually all common diseases, determine their quantitative contribution in prospective studies, and determine how these genetic variations interact with environmental factors		Individualized preventive medicine based on genetic and environmental risk Pharmacogenomics to improve outcome of drug therapy
Determine structure and function of all human proteins and functional RNAs using a combination of experimental and computational methods		"Designer drugs" based on precise three-dimensional information about targets Gene-based therapeutics for many disorders
Refine technology for low-cost genotyping, expression profiling, mutation detection, and, ultimately, complete genome sequencing for $1,000 or less		Point-of-care molecular diagnostics informing clinical decision making
Refine mechanisms for effectively translating basic advances in genomics to healthcare applications		More widespread use of small molecule screening approaches by academic investigators Widespread adoption of genomic technologies with high clinical utility in healthcare Extensive health information technology infrastructure development supporting and informing the use of genomics in healthcare
Vigorously explore the ethical, legal, and social implications of genome research		Legal safeguards against genetic discrimination and breaches of privacy Equitable access to genomic technologies with high clinical utility Achievement of widespread "genomic literacy" in society and the health professions

Authors: Francis S. Collins, MD, PhD, National Human Genome Research Institute, National Institutes of Health; W. Greg Feero, MD, PhD, National Human Genome Research Institute, National Institutes of Health; Victor A. McKusick, MD, Johns Hopkins University School of Medicine