Medical Minute – Human Genome Project

By: Dr. James Lee

Do you remember “Mission Accomplished”?  No, not the one George W Bush uttered from the deck of the USS Abraham Lincoln on May 1, 2003.  This one occurred 17 days earlier, but they may share a common characteristic.  On April 14, 2003, scientists announced that the Human Genome Project was complete.  The Human Genome Project was an international scientific collaboration with the goal to completely map and understand all the human genes (or genome).  This was first conceived in the 1980’s and started in earnest in 1990 with a specific plan and goals for joint research.  Specifically, the three goals were to determine the order of the genes (sequence) made up of just four base pairs; mapping the location of genes for all the chromosomes; and creating linkage maps of genes to allow inherited traits, including genetic diseases, to be tracked over generations.  More than twenty laboratories, companies, and institutions, in six different countries, collaborated to complete this.

The actual completion of these goals took just over 30 years.  Now, those of you paying attention may wonder how it took 30 years when the announcement was made 13 years after the project started in 1990.  The fact is that when the completion of the project was announced in 2003, only about 85% of the genome was mapped.  The rest of the mapping would require recent advances in sequencing to unravel some of the largest, most repetitive, and complex pieces of DNA.  This was accomplished earlier this year in March, to noticeably less fanfare than in 2003. 

This is an amazing advancement, considering it was not until 1944 that we even knew that DNA was a hereditary material.  It was in 1953 that Watson and Crick described the double-helix structure of DNA, for which they won the 1962 Nobel Prize.  In 1977, the methods used to sequence DNA were first developed (just 26 years before 85% of the genome was mapped).  The first human disease gene was mapped in 1983, which was Huntington’s disease, prompting the discussion of genomic sequencing which first occurred in 1984.

The Project has had widespread implications worldwide.  In addition to the technological advancements in instruments and techniques that allowed the completion of the project, advances in biology, medicine, and society have also been made.

The technological advancements of the Human Genome Project include the development of novel technologies and instruments that will help us use and further study genomic sequences.  The Project also brought together biologists with engineers, mathematicians, ad computer scientists and demonstrated the power and possibilities of large, integrated, cross-disciplinary endeavors.  It also paved the way for a new open approach to science with data-sharing and open-source software.  Prior to this, research was often done individually, and even secretively so researchers could take credit and profit either directly or indirectly from their discoveries. 

Biologically, HGP has allowed scientists to begin to understand complex biologic systems, their connection to each other, and how their dynamics relate to their function.  New fields including proteomics which are identifying new proteins, have been developed.  Genomic sequencing of bacteria and other species including plants may lead to advancements in medicine and food supplies. 

Medically, the advancements due to the HGP are just beginning to be realized.  Identification of diseases and variants, including cancers.  Genes for how humans metabolize drugs, too fast or too slow, have been identified which help personalize current medical therapy.  Targeted drug therapies for various diseases are beginning to be possible based on the genetics of tumors and individuals with currently available drugs.  The HGP has allowed blood protein diagnostics to generate new diagnostic panels which will lead to early detection of diseases, the ability to follow disease progression and responses to treatments, and further subtype diseases for better treatments. 

Socially, the HGP has had social, ethical, and legal implications.  Initially, it was feared that the Human Genome Program would provide a basis for discrimination.  There was fear that employers or insurance companies could refuse to hire individuals or refuse to provide insurance based on genetic information.   The Health Insurance Portability and Accountability Act (HIPPA) was passed in 1996 which provided protection against this.  Legally, the advances from the Human Genome Project have revolutionized the field of forensics by allowing the identification of individuals from tiny amounts of biologic material.  Banking convicted criminals’ DNA has facilitated the identification of perpetrators of future crimes.  Conversely, innocent men and women have been exonerated based on DNA evidence and their convictions overturned. 

Remarkably, 99.9% of all human beings share identical make-up.  An individual’s DNA reveals their ancestral lineage, which is a function of migrations and interbreeding of different population groups.  There are no race specific genes.  This supports a single race, the human race, of which we are all part.  Focusing on the similarities among us rather than the differences allows us to honor each other, address the issues that concern us all, and treat each other accordingly.

Dr. James Lee serves as the Coroner of Winn Parish. He is a General Surgeon and Surgical Oncologist who has been practicing in Winnfield for over ten years. Dr. Lee attended the University of Colorado for his medical degree. He completed his residency in Surgery at the University of Oklahoma before completing a fellowship in Surgical Oncology and Endoscopy at Roswell Park Cancer Institute in Buffalo, NY. Dr. Lee and his wife Scarlett live in Winnfield with their son and are active in the community.

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