In this blog post, we will look at how the completion of the Human Genome Project has begun to change our daily lives, medicine, and the future of society.
If a stranger came to your house and said, “Let me look at your genes,” would you willingly give them a strand of your hair? On April 14, 2003, the National Human Genome Research Institute (NHGRI) officially announced the completion of the Human Genome Project, which mapped the entire human genome (DNA). So what is the Human Genome Project? Genome is a compound word for genes and chromosomes, and refers to all genetic information. The Human Genome Project aims to identify all the base sequences that make up human DNA, find the causes of diseases that occur in humans, and develop appropriate treatments. This project was completed by 15 countries, including Japan, the United Kingdom, and France, led by the National Institutes of Health (NIH) in the United States. The project started with a budget of approximately $3 billion and was expected to take about 15 years to complete, but in fact, the basic draft of the genome was completed in 2000, about two years ahead of schedule. On June 26 of the same year, it was officially announced by US President Bill Clinton and British Prime Minister Tony Blair. Through continuous research, the completed draft was released on April 14, 2003, and it contained 99% of the sequences of all human genes with 99.99% accuracy.
The goal of the Human Genome Project was not simply for scientists to identify the approximately 3 billion base pairs, but to find the genes contained within them. Through the project, approximately 20,000 to 25,000 human genes have been identified. Another goal is to develop faster and more efficient DNA sequencing and industrialize it, which has already been achieved to a certain extent. Even if the industrialization goal is achieved, it will still be necessary to develop computer programs that can interpret and utilize DNA sequences.
In March 2022, the Telomere-to-Telomere (T2T) consortium announced the first complete and gap-free human genome sequence. This new genome sequence fills in the gaps in the existing reference genome and enables more accurate genome analysis. In particular, it will greatly aid in the diagnosis, prediction, and treatment of genetic diseases by enabling better identification of structural variants. In addition, the Human Pangenome Reference Consortium is building a new “pangenome” reference that includes a variety of human genomes. This pangenome includes multiple human genome sequences simultaneously, enabling analysis of a wider range of genetic variation. Such pangenome references reduce bias in genome analysis and provide more accurate genetic information for all population groups.
The interpretation of data obtained through genome projects is still in its infancy. Developing methods to interpret data more easily will greatly benefit medicine, pharmacology, and biology, and open up broader markets. For example, it could be a major stepping stone in the development of treatments for genetic diseases such as cancer and Alzheimer’s disease. If a person knows that they have a specific gene, they can easily find out what has been researched about that gene by searching a database and then undergo gene therapy for that gene. In fact, a company called 23andMe will send you a genetic testing kit to your home for $100. Once you complete the kit and send it back to the company, they will perform a genetic test. After the genetic test, you can check specific genes and receive treatment tailored to them.
Although the genome project has been completed, a more complete draft is 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.
