Discovering the sequence of the human genome was only the first step in understanding how the instructions coded in DNA lead to a functioning human being. The next stage of genomic research will begin to derive meaningful knowledge from the DNA sequence. Research studies that build on the work of the Human Genome Project are under way worldwide.

The objectives of continued genomic research include the following:

  • Determine the function of genes and the elements that regulate genes throughout the genome.
  • Find variations in the DNA sequence among people and determine their significance. The most common type of genetic variation is known as a single nucleotide polymorphism or SNP (pronounced “snip”). These small differences may help predict a person’s risk of particular diseases and response to certain medications.
  • Discover the 3-dimensional structures of proteins and identify their functions.
  • Explore how DNA and proteins interact with one another and with the environment to create complex living systems.
  • Develop and apply genome-based strategies for the early detection, diagnosis, and treatment of disease.
  • Sequence the genomes of other organisms, such as the rat, cow, and chimpanzee, in order to compare similar genes between species.
  • Develop new technologies to study genes and DNA on a large scale and store genomic data efficiently.
  • Continue to explore the ethical, legal, and social issues raised by genomic research.

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  • NLM National Library of Medicine