The Human Genome Project Jacob D. Schroeder Department of Chemistry and Chemical Engineering South Dakota School of Mines and Technology Rapid City, SD History 1990 – (October) The Human Genome Project formally begins, originally intended to be a 15 year plan Human chromosome mapping data repository established Low-resolution genetic linkage map of entire human genome published 1994 – Genetic Privacy Act proposed to regulate collection, analysis, storage, and use of DNA samples and genetic information obtained from them Los Alamos National Laboratory and Lawrence Livermore National Laboratory announce high-resolution physical maps of chromosome 16 and chromosome Moderate-resolution maps of chromosomes 3, 11, 12, and 22 published 1996 – Yeast Genome sequence completed by international consortium High-resolution physical maps of chromosomes X and 7 completed – Gene map ’98 containing 30,000 markers released 1999 – First Human Chromosome completely sequenced Researchers announce completion of chromosomes 5, 16, and 19 draft sequence International research consortium publishes chromosome 21 genome, the smallest human chromosome and the fifth to be completed 2000 – Human Genome Project leaders and President Clinton announce completion of a "working draft" DNA sequence of the human genome 2003 – Project completion estimated Legislation Why Legislation is Needed. 1. Based on genetic information, employers may try to avoid hiring workers they believe are likely to take sick leave, resign, or retire early for health reasons 2. Some employers may seek to use genetic tests to discriminate against workers 3.The economic incentive to discriminate based on genetic information is likely to increase as genetic research advances and the costs of genetic testing decrease 4. Genetic predisposition or conditions can lead to workplace discrimination 5.Insurers can still use genetic information in the individual market in decisions about coverage, enrollment, and premiums To help solve these and other ethical and social issues, Congress has passed many Acts and Bills. Here are a few examples: Discussions Chem 292, Chemistry Outreach Fall 2000 Dr. David A. Boyles and Dr. M. Steven McDowell 1.On February 8, 2000, U.S. President Clinton signed an executive order prohibiting every federal department and agency from using genetic information in any hiring or promotion action. 2.This executive order Prohibits federal employers from requiring or requesting genetic tests as a condition of being hired or receiving benefits. 3.This order also Prohibits federal employers from using protected genetic information to classify employees in a manner that deprives them of advancement opportunities, and Provides strong privacy protections to any genetic information used for medical treatment and research Other Acts and bills have also been passed to help regulate genetic information. These include 1. Genetic Information Health Insurance Nondiscrimination Act of 1999 prohibits health insurers and group health plans from discriminating against individuals on the basis of genetic information. 2. Genetic Information Nondiscrimination in Health Insurance Act of 1999 prohibit discrimination against individuals and their family members on the basis of genetic information or of a request for genetic services. 3. Patients' Bill of Rights Plus Act, (1999), improves access and choice of patients to quality, affordable health care. Left: BAC-PAC Map. Each color dot represents a single BAC or PAC clone mapped by FISH to a specific chromosome band represented in black and white. The clones, which are stable and useful for sequencing, have been integrated with the genetic and physical chromosome maps. Left: Representation of the genetic similarity of a mouse and human species. Left: Image of more social issues raised by the Human Genome Project. Left: Image concerned with the Health or Disease issue. Above Left: Human Genome Project Logo Top Right: DNA, The Molecule of Life Right Middle: Impacts of the Human Genome Project Bottom Right: DNA to Protein Below: 3-Dimensional View of Human DNA Molecule using RasMol Left: 3-Dimensional view of a protein structure Benefits Some current and potential applications of genome research include molecular medicine and DNA Forensics, among others. 1.Molecular Medicine improved diagnosis of disease earlier detection of genetic predispositions to disease rational drug design gene therapy and control systems for drugs pharmacogenomics "custom drugs" 2.DNA Forensics identify potential suspects whose DNA may match evidence left at crime scenes exonerate persons wrongly accused of crimes identify crime and catastrophe victims establish paternity and other family relationships Left: This Picture depicts two themes - the molecular anatomy of the human genome, and a summary of different areas of genetic research. Left: Map of Chromosome 4. Credits All pictures with the exception of the 3-Dimensional DNA molecule are courtesy of the DOE Human Genome Program ( 3_Dimensional Human DNA Molecule courtesy of Rasmol ( Informational Links 1. e.htmlhttp:// e.html 2. mlhttp:// ml