Genomics is central to understanding human biology and human disease. Everything starts with the genome's long strands of deoxyribonucleic acid (or DNA). The information encoded in DNA provides the basic instructions for our lives, and subtle variations in our genomes greatly influence our health, our risk for disease and many of our physical features.
Realizing the health benefits of genomics will take decades of dedicated work and a global effort that builds on past findings and expands as new productive avenues emerge. NHGRI has a long-term commitment to this promising enterprise through the following four priority research areas comprising The Forefront of Genomics initiative.
It will take decades of research to fully reveal all the complexities of how the genome functions. These efforts involve using laboratory and computational approaches to assemble inventories of functional elements in the human genome, to establish the choreography by which these elements confer biological function, and to catalog the differences among people's genomes. Key to these advances is the ongoing development of new technologies and approaches for studying genome structure and for elucidating genome function.
Diseases are a consequence of a complex choreography of influences from our genomes and our environmental and social exposures. Rare diseases typically result from the presence of genomic variants (mutations) in a single gene, with environmental and social influences playing a lesser role. Common diseases typically result from the presence of multiple risk-conferring genomic variants in conjunction with environmental and social influences. Large-scale genomic studies can establish the role that genomic variants play in rare and common diseases, in the response to medications and in the preservation of health.
Genomic medicine is an emerging medical discipline that involves using an individual's genomic information as part of his or her clinical care (e.g., for diagnostic or therapeutic decision-making) and the other implications of that clinical use. A foundation for the systematic implementation of genomic medicine is being built by research programs that are establishing tools, resources, and a knowledge base to empower healthcare professionals to capitalize on genomic information in the delivery of clinical care. Helping patients, their families, and their friends understand the role that genomics will play in making healthcare decisions is also vital.
Studying the ethical, legal, and social implications of genomics research has been a cornerstone of the field since its inception. As new technologies increase our capability to generate genomic information and research increases our understanding of what that information might mean, society needs to determine how to use the technologies and information responsibly. Genomics is the study of commonality and of differences, and ensuring that research moves forward in ways that remain mindful of the implications of the generated knowledge is fundamental to the ultimate success of the enterprise.
Last Updated: May 16, 2017