Genomics

Genomics is the study of human genes and chromosomes. The human genome typically consists of 23 pairs of chromosomes and 24,000 genes. In medicine, genome and DNA sequencing -- determining the exact structure of a DNA molecule -- are done to learn more about a patient's molecular biology.

Genomic studies uncover the genetic makeup of patients, including their genetic differences and mutations. All of that information can be used to form a care plan specific to patients' individual genetic composition, rather than treating them with a one-size-fits-all approach.

What genomics is used for

There are many applications for human genetics in medicine, biotechnology, anthropology and other social sciences.

In medicine, next-generation genomic technology can collect increased amounts of genomic data. When this data is combined with informatics, it enables the integration of all this information. Doing so better enables researchers to understand drug response and disease based on genetics and also helps in the efforts to achieve personalized medicine.

Mapping a human genome is time-consuming and produces a terabyte (TB) of unorganized data. As technology advances and that data becomes easier to store and comprehend, more healthcare providers will use it to diagnose and treat patients and create clinical decision support.

Strides have been made in genome sequencing efficiency. It took Nationwide Children's Hospital in Columbus, Ohio, one week to analyze the same data set that was studied over 18 months during the 1,000 Genomes Project. That project was the first to sequence the genomes of a large group, an endeavor that could benefit population health management.

Some pilot projects have targeted integrating genomics capabilities into providers' electronic health record (EHR) systems as their goal. Genomics is considered part of personalized or precision medicine, a model of healthcare in which providers customize treatment to fit each individual patient's needs and genetic configuration.

Types of genomics

• Structural genomics: Aims to determine the structure of every protein encoded by the genome.
• Functional genomics: Aims to collect and use data from sequencing for describing gene and protein functions.
• Comparative genomics: Aims to compare genomic features between different species.
• Mutation genomics: Studies the genome in terms of mutations that occur in a person's DNA or genome.

What is the Human Genome Project?

The Human Genome Project, which was led at the National Institutes of Health (NIH) by the National Human Genome Research Institute, produced a very high-quality version of the human genome sequence that is freely available in public databases. That international project was successfully completed in April 2003, under budget and more than two years ahead of schedule.

The sequence is not that of one person, but is a composite derived from several individuals. Therefore, it is a "representative" or generic sequence. To ensure anonymity of the DNA donors, more blood samples (nearly 100) were collected from volunteers than were used, and no names were attached to the samples that were analyzed. Thus, not even the donors knew whether their samples were actually used.

The Human Genome Project was designed to generate a resource that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations that increase risk of specific diseases, such as cancer, or to look for the type of genetic mutations frequently seen in cancerous cells. More research can then be done to fully understand how the genome functions and to discover the genetic basis for health and disease.