In April 2003, the Human Genome Project was completed, sequencing human DNA, which is expected to make a major contribution to the advancement of medicine and biology by enabling the identification of the causes of disease and the development of personalized therapies.
If a stranger came to your home and said, “I’d like to look at your genes,” would you be willing to pull a strand of hair? On April 14, 2003, the National Human Genome Research Institute (NHGRI) officially announced the completion of the Human Genome Project, which sequenced all of the genes (DNA) in humans. So what is the Human Genome Project? Genome is a combination of genes and chromosomes, and refers to the entirety of genetic information. The Human Genome Project aims to uncover all of the many sequences that make up human DNA in order to find the causes of diseases that affect people and develop treatments for them. The project was led by the US National Institutes of Health (NIH), joined by 15 other countries, including Japan, the UK, and France. The project began with a budget of about $3 billion and was expected to take 15 years to complete, but the basic draft of the genome was actually completed in 2000, about two years ahead of schedule. On June 26 of that year, it was officially announced by U.S. President Bill Clinton and British Prime Minister Tony Blair. Continued research led to the release of the finished draft on April 14, 2003, which contained the sequences of 99% of all human genes with 99.99% accuracy.
The goal of the Human Genome Project was not for scientists to simply recognize the 3 billion or so sequences, but to find the genes they contained. About 20,000 to 25,000 human genes have been identified through the project. Another goal is to industrialize DNA sequencing by making it faster and more efficient, which is already happening to some extent. Even if the industrialization goal is achieved, there is still a need to develop computer programs that can interpret and use DNA sequences.
In March 2022, the Telomere-to-Telomere (T2T) Consortium released the first complete and gap-free human genome sequence. This new genome sequence fills in gaps in existing reference genomes and enables more accurate genomic analysis, particularly the ability to better identify structural variants, which will greatly aid in the diagnosis, prediction, and treatment of genetic diseases. In addition, the Human Pangenome Reference Consortium is building a new “pangenome” reference that includes a wide variety of human genomes. These pangenomes will include multiple human genome sequences simultaneously, enabling a wider range of genomic variation to be analyzed. These pangenome references will reduce imbalances in genomic analysis and provide more accurate genetic information for all populations.
Interpreting the data from genome projects is still in its infancy. Developing easier ways to interpret the data could greatly benefit medicine, pharmacy, and biology and open up a broader market. For example, it could be a huge stepping stone in advancing treatments for gene-related diseases like cancer or Alzheimer’s. If a person knows that a certain gene is involved, they can easily look up that gene in a database to find out what has been studied so far, and then run gene therapy on that gene. In fact, there’s a company called 23andMe that will send you a genetic testing kit to your home for $100. You complete the kit, send it back to the company, and they do a genetic test. After the genetic test, they can test for specific genes and offer treatments for them.
The Genome Project is currently complete, but more complete drafts are released every year. As science and technology advance and the Genome Project becomes more accurate and clear, a new world will open up on this planet.
