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FAQ

Q. What is genetics? What is genomics?

Genetics is the study of inheritance, or the way traits are passed down from one generation to another. Genes carry the instructions for making proteins, which in turn direct the activities of cells and functions of the body that influence traits such as hair and eye color.

Genomics is a newer term that describes the study of all the genes in a person, as well as interactions of those genes with each other and with that person’s environment.

Q. What's a genome and why is it important?

A genome is the entire DNA in an organism, including its genes. Genes carry information for making all the proteins required by all organisms. These proteins determine, among other things, how the organism looks, how well its body metabolizes food or fights infection and sometimes even how it behaves.

DNA is made up of four similar chemicals (called bases and abbreviated A, T, C, and G) that are repeated millions or billions of times throughout a genome. The human genome, for example, has three billion pairs of bases.

The particular order of As, Ts, Cs, and Gs is extremely important. The order underlies all of life's diversity, dictating whether an organism is human or another. Because all organisms are related through similarities in DNA sequences, insights gained from non-human genomes often lead to new knowledge about human biology.

Q. How big is the human genome?

The human genome is made up of DNA, which has four different chemical building blocks. These are called bases and abbreviated A, T, C, and G. In the human genome, about 3 billion bases are arranged along the chromosomes in a particular order for each unique individual. To get an idea of the size of the human genome present in each of our cells, consider the following analogy: If the DNA sequence of the human genome were compiled in books, the equivalent of 200 volumes the size of a Manhattan telephone book (at 1000 pages each) would be needed to hold it all.

It would take about 9.5 years to read out loud (without stopping) the 3 billion bases in a person's genome sequence. This is calculated on a reading rate of 10 bases per second, equaling 600 bases/minute, 36,000 bases/hour, 864,000 bases/day, 315,360,000 bases/year.

Storing all this information is a great challenge to computer experts known as bioinformatics specialists. One million bases (called a megabase and abbreviated Mb) of DNA sequence data is roughly equivalent to 1 megabyte of computer data storage space. Since the human genome is 3 billion base pairs long, 3 gigabytes of computer data storage space are needed to store the entire genome. This includes nucleotide sequence data only and does not include data annotations and other information that can be associated with sequence data.

As time goes on, more annotations will be entered as a result of laboratory findings, literature searches, data analyses, personal communications, automated data-analysis programs, and auto annotators. These annotations associated with the sequence data will likely dwarf the amount of storage space actually taken up by the initial 3 billion nucleotide sequence. Of course, that's not much of a surprise because the sequence is merely one starting point for much deeper biological understanding!

Contributions to this answer were made by Morey Parang and Richard Mural formerly of Oak Ridge National Laboratory; and Mark Adams formerly of The Institute of Genome Research.

Q. How many genes are in the human genome?

The current consensus predicts about 20,000-25,000 genes, but not all genome scientists agree.

Q. What is DNA sequencing?

DNA sequencing, the process of determining the exact order of the 3 billion chemical building blocks (called bases and abbreviated A, T, C, and G) that make up the DNA of the 24 different human chromosomes, was the greatest technical challenge in the Human Genome Project. Achieving this goal has helped reveal the estimated 20,000-25,000 human genes within our DNA as well as the regions controlling them. The resulting DNA sequence maps are being used by 21st century scientists to explore human biology and other complex phenomena.

Meeting Human Genome Project sequencing goals by 2003 required continual improvements in sequencing speed, reliability, and costs. Previously, standard methods were based on separating DNA fragments by gel electrophoresis, which was extremely labor intensive and expensive. Total sequencing output in the community was about 200 Mb for 1998. In January 2003, the DOE Joint Genome Institute alone sequenced 1.5 billion bases for the month.

Gel-based sequencers use multiple tiny (capillary) tubes to run standard electrophoretic separations. These separations are much faster because the tubes dissipate heat well and allow the use of much higher electric fields to complete sequencing in shorter times.

Q. Whose genome was sequenced in the public (HGP) and private projects?

The human genome reference sequences do not represent any one person’s genome. Rather, they serve as a starting point for broad comparisons across humanity. The knowledge obtained is applicable to everyone because all humans share the same basic set of genes and genomic regulatory regions that control the development and maintenance of their biological structures and processes.

In the international public-sector Human Genome Project (HGP), researchers collected blood (female) or sperm (male) samples from a large number of donors. Only a few of many collected samples were processed as DNA resources. Thus the donor identities were protected so neither donors nor scientists could know whose DNA was sequenced. DNA clones from many different libraries were used in the overall project.

Technically, it is much easier to prepare DNA cleanly from sperm than from other cell types because of the much higher ratio of DNA to protein in sperm and the much smaller volume in which purifications can be done. Using sperm does provide all chromosomes for study, including equal numbers of sperm with the X (female) or Y (male) sex chromosomes. However, HGP scientists also used white cells from the blood of female donors so as to include female-originated samples.

In the Celera Genomics private-sector project, DNAs from a few different genomes were mixed up and processed for sequencing. The DNA resources used for these studies came from anonymous donors of European, African, American (North, Central, South), and Asian ancestry. The lead scientist of Celera Genomics at that time, Craig Venter, has since acknowledged that his DNA was one of those in the pool.

Many small regions of DNA that vary among individuals (called polymorphisms) also were identified during the HGP, mostly single nucleotide polymorphisms (SNPs). Most SNPs are without physiological effect, although a minority contribute to the delightful and beneficial diversity of humanity. A much smaller minority of polymorphisms affect an individual’s susceptibility to disease and response to medical treatments.

Although the HGP has been completed, SNP studies continue in the International HapMap Project, whose goal is to identify patterns of SNP groups (called haplotypes, or "haps"). The DNA samples for the HapMap came from a total of 270 individuals: Yoruba people in Ibadan, Nigeria; Japanese in Tokyo; Han Chinese in Beijing; and the French Centre d’Etude du Polymorphisme Humain (CEPH) resource.

Q. Who sequenced the human genome?

Human Genome Project research was funded at many laboratories around the U.S. by the Department of Energy (DOE), the National Institutes of Health (NIH), or both. A list of the major U.S. Human Genome Project research sites can be found here.

Other researchers at numerous colleges, universities, and laboratories throughout the United States have also received DOE and NIH funding for human genome research. At any given time, the DOE Human Genome Program has funded about 100 separate principal investigators. For DOE-funded projects, see Research. To see a list of NIH-funded projects, visit their grants database.

In addition, many large and small private U.S. companies are conducting genome research. For more on the genomics research partnership between the public and private sectors, see the Human Genome Project and the Private Sector Fact Sheet. At least 18 other countries have participated in the Human Genome Project. See the list.

Q. What does genomics have to do with my health?

Genomics plays a part in nine of the Ten Leading Causes of Death in the United States. All human beings are 99.9 percent identical in genetic makeup, but differences in the remaining 0.1 percent may hold important clues about the causes of disease.

We hope that the study of genomics will help us learn why some people get sick from certain infections, environmental factors, and behaviors, while others do not. Better understanding of the interactions between genes and the environment will help us find better ways to improve health and prevent diseases.

Q. What is gene therapy?

Gene therapy is a technique for correcting faulty genes responsible for disease development. To learn more about gene therapy visit the Human Genome Project Web site.

Q.What will the next 50 years of medical science look like?

Having the essentially complete sequence of the human genome is similar to having all the pages of a manual needed to make the human body. The challenge to researchers and scientists now is to determine how to read the contents of all these pages and then understand how the parts work together and to discover the genetic basis for health and the pathology of human disease. In this respect, genome-based research will eventually enable medical science to develop highly effective diagnostic tools, to better understand the health needs of people based on their individual genetic make-ups, and to design new and highly effective treatments for disease.

Individualized analysis based on each person's genome will lead to a very powerful form of preventive medicine. We'll be able to learn about risks of future illness based on DNA analysis. Physicians, nurses, genetic counselors and other health-care professionals will be able to work with individuals to focus efforts on the things that are most likely to maintain health for a particular individual. That might mean diet or lifestyle changes, or it might mean medical surveillance. But there will be a personalized aspect to what we do to keep ourselves healthy. Then, through our understanding at the molecular level of how things like diabetes or heart disease or schizophrenia come about, we should see a whole new generation of interventions, many of which will be drugs that are much more effective and precise than those available today.

Q. When can we expect new and better drugs?

It's important to be careful about raising expectations. Most new drugs based on the completed genome are still perhaps 10 to 15 years in the future, although more than 350 biotech products - many based on genetic research - are currently in clinical trials, according to the Biotechnology Industry Organization. It usually takes more than a decade for a company to conduct the kinds of clinical studies needed to win marketing approval from the Food and Drug Administration.

Testing, however, will arrive more quickly, especially the ability to predict individual future health risks, and the ability to implement an enhanced approach to preventive medicine. In the next decade, we may also be better able to determine which drugs work best for individuals, based on their genetic make-up.

For more detailed information on NHGRI, the Human Genome Project and the future of genomics, go to:

For more detailed information on DOE's Human Genome Program and the future of genomics, go to: