Human Genome Project

The Human Genome Project (HGP) was one of the great feats of exploration in history — an inward voyage of discovery rather than an outward exploration of the planet or the cosmos; an international research effort to sequence and map all of the genes - together known as the genome - of members of our species, Homo sapiens. The project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003. The project was coordinated by the U.S. Department of Energy and the National Institutes of Health. During the early years of the HGP, the Wellcome Trust (U.K.) became a major partner; additional contributions came from Japan, France, Germany, China, and others.

When analysis of the draft human genome sequence was published by the International Human Genome Sequencing Consortium on February 15, 2001, the paper estimated only about 30,000 to 40,000 protein-coding genes, much lower than previous estimates of about 100,000. This lower estimate came as a shock to many scientists because counting genes was viewed as a way of quantifying genetic complexity. With about 30,000, the human gene count would be only one-third greater than that of the simple roundworm C. elegans, which has about 20,000 genes.

Thirteen years of work, thousands of researchers around the world, $1 billion spent — and finally it was done. On April 14, 2003, scientists announced that they had completed the Human Genome Project, compiling a list of the three billion letters of genetic code that make up what they considered to be a sort of everyperson’s DNA. 

Project goals are to

• identify all the approximately 20,000-25,000 genes in human DNA,
• determine the sequences of the 3 billion chemical base pairs that make up human DNA,
• store this information in databases,
• improve tools for data analysis,
• transfer related technologies to the private sector, and
• address the ethical, legal, and social issues (ELSI) that may arise from the project.

"Science is essentially a cultural activity. It generates pure knowledge about ourselves and about the universe we live in, knowledge that continually reshapes our thinking"  -        John Sulston

The way it was done then, like reading out the letters of the genome, one page at a time and at the end of the day different pages came from different people. Each page was a stretch of DNA, about 100,000 bases long out of the total three billion bases (the four chemicals that make up DNA, are adenine (A), which pairs with thymine (T), and cytosine (C), which pairs with guanine (G)). To sequence the human genome as accurately as possible, researchers developed the 'hierarchical shotgun' method. Researchers essentially broke many copies of the genome into fragments, each around 150,000 letters of code (or base-pairs) long. They inserted the fragments into a bacterial artificial chromosome that could be grown in E. coli bacteria which divided, thereby replicating the DNA samples to create a stable resource - a 'library' of DNA clones. Now, we can sequence a human genome in a couple of days for well under $10,000, probably around $4,000 or $5,000.   

Ethical & Legal Issues: There are a lot of issues that come up when talking about the Human Genome Project and when figuring ways how to use it. Many people of our society are concerned about how this will affect people around us and if it could cause a new idea for gene racism.  Also there could be fighting over the use of a particular part of a gene and how it can or cannot be used.

Medical Benefits: There are many benefits with the Human Genome Project Disease Intervention exploration into the function of each human gene will shed light on how faulty genes play a role in disease causation. Now The Human Genome Project has already fueled the discovery of more than 1,800 disease genes. With this knowledge we can start developing medicines to help prevent the defect.  Diagnosing and Predicting Disease and Disease Susceptibility the successes of the HGP have even enabled researchers to pinpoint errors in genes the smallest units of heredity that cause or contribute to disease. The ultimate goal is to use this information to develop new ways to treat, cure, or even prevent the thousands of diseases that afflict humankind in a matter of days, rather than the years it took before the genome sequence was in hand. There are now more than 1,000 genetic tests for human conditions. These tests enable patients to learn their genetic risks for disease and also help healthcare professionals diagnose disease. At least 350 biotechnology-based products resulting from the Human Genome Project are currently in clinical trials. Having the complete sequence of the human genome is similar to having all the pages of a manual needed to make the human body. The challenge now is to determine how to read the contents of these pages and understand how all of these many, complex parts work together in human health and disease. The increasing ability to connect DNA variation with non-medical conditions, such as intelligence and personality traits, will challenge society, making the role of ethical, legal and social implications research more important than ever.

Genomics is possibly making its biggest strides in cancer medicine. Doctors can now sequence a patient’s tumor to identify the best treatments. Specific drug targets may be found for as many as  70 percent of tumors. The dropping price of DNA sequencing is also changing prenatal care. A pregnant woman now has the option to eschew amniocenteses or other invasive methods for checking for chromosome aberrations in her fetus. Instead, she can get a simple blood draw. Before the Human Genome Project, researchers knew the genetic basis of about 60 disorders. Today, they know the basis of nearly 5,000 conditions. Prescriptions are also changing because of genomics. More than 100 different FDA- approved drugs are now packaged with genomic information that tells doctors to test their patients for genetic variants linked to efficacy, dosages or risky side-effects.   

But the work for human genome scientists is hardly over. There are still regions of the human genome yet to be sequenced. Most of these still unyielding regions are in parts of chromosomes that are full of complex, repetitive sequence. Only a small proportion of the genome encodes for proteins and there is ongoing debate as to how much of the remainder is functional or just junk or redundant sequences. And many scientists agree that the advances in medical genomics are just the tip of the iceberg— much more work lies ahead to fully harness genomic information to improve patient health.