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What was the Human Genome Project (HGP)? What are the future implications of the HGP?
The Human Genome Project, the largest genetic study ever undertaken, was an ambitious attempt to fully sequence human DNA. In the 20 years since the project’s completion, its accomplishments have reached well beyond the field of genetics, including information technology and medical ethics.
Keep reading to learn about the Human Genome Project, the outcomes, and the future of the project.
The Human Genome Project
What was the Human Genome Project (HGP)? The HGP was the largest genetic study ever undertaken, and was an attempt to fully sequence the human genome: the genetic information encoded in our DNA.
The HGP was a 13-year collaboration (1990-2003) among thousands of scientists from all over the world, funded by the National Institutes of Health and the US Department of Energy. On April 14, 2003, the HGP produced a genome sequence that accounted for over 90% of the human genome.
Goals of the Human Genome Project
We’ve said that the HGP’s goal was to sequence the human genome, but what does that really mean?
Genetic information is encoded in DNA, which is made up of four different molecules called bases. Those four bases are always found in pairs called (appropriately enough) base pairs. The human genome contains roughly 3.2 billion base pairs, arranged into about 20,000 genes, and the HGP’s stated goal was to identify and record all of them.
Benefits of the Human Genome Project
As expected, the HGP produced significant advancements in gene sequencing techniques and technology.
- Most notably, HGP researchers improved upon a technique called Sanger sequencing to make it more efficient and able to handle longer strands of DNA. Although Sanger sequencing is no longer used for whole genome sequencing, it’s still the best method for analyzing relatively small pieces of DNA.
- The HGP also drove improvements in information technology, because researchers needed better computers in order to analyze and record the enormous amounts of data they were producing.
- Although the HGP cost the federal government billions of dollars, an independent study estimated that each dollar invested created economic returns of $141.
- The project also helped advance policies for openly sharing scientific data. The draft human genome sequence was made publicly available, setting a precedent for making medical research information freely available both to other researchers and to the public.
- Finally, the HGP drove discussion about ethics in biomedical research. For example, what can a patient’s genetic information be used for? What impacts will genetic research have on minority groups? Questions like these led to the establishment of the Ethical, Legal, and Social Issues (ELSI) Research Program.
Future Implications of the Human Genome Project
Scientists and doctors have continued the work that the HGP began. Today, sequencing a human genome—using what’s called next-gen sequencing—takes mere weeks and costs about $600, instead of taking years and costing billions.
Genome sequencing has enormous value as a diagnostic tool. There are thousands of gene variants that cause or contribute to diseases; with fast, cheap, and accurate whole genome sequencing, doctors could find those genetic risk factors before any symptoms arise (or even before the person is born).
However, some scientists envision even greater impacts, like medical treatments and lifestyle recommendations tailored to a person’s individual genetics.
Finally, with the HGP providing a template for the human genome, doctors hope to someday understand the genetic changes (mutations) that lead to cancer and develop more effective cancer treatments targeting those specific mutations. Geneticists have compiled their findings into the Cancer Genome Atlas, a publicly available database of the genomes found in thousands of different types of cancer.
Next Steps in Genetics
Despite having the vast majority of the human genome sequenced and identified, there are still many things that scientists don’t know about how those genes actually work.
Aside from unanswered questions, there’s also a great deal of talk about what scientists can (or should) do with their knowledge of the human genome. We’ve already discussed personalized medical treatments and lifestyles based on genetics, but what about changing the genes themselves; in other words, genetic engineering?
Gene therapy—fixing damaged or mutated genes using genetic engineering—is a promising field of study for curing genetic diseases like sickle cell anemia and cystic fibrosis.
While the HGP was an enormous step forward for our understanding of the human genome, and the field of genetics as a whole, there are many problems—academic, practical, and ethical—that scientists have yet to solve. Finding the answers to those questions will most likely drive the field of genetics for the foreseeable future.
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