Earlier this year, scientists, working jointly with the National Institutes of Health and private industry, published the results of the Human Genome Project. This study reveals the structure of the 3 billion or so chemical units that form the DNA in each one of our cells. DNA is so important because our genes are found at various intervals along that long, chain-like molecule. Each one of the trillion or so cells in all of us has the exact same copy of DNA as every other cell, though from one individual to the next the copy will be slightly different. These differences account for our diversity in appearance, gender, intelligence, athleticism, size, etc. And these differences also play a major role in one's susceptibility to certain diseases and illnesses. This last point makes the Human Genome Project very important to science, medicine, and the pharmaceutical industry.
Genetic medicine flows naturally from the Human Genome Project. It involves four interrelated things:
Genomics, the study of human DNA, is informing scientists about DNA's structure and how human cells make proteins.
Proteomics, the study of how proteins function and interact with each other, is cataloging all human proteins and identifying the role that proteins play in many diseases.
Toxicogenomics, the study of how chemicals affect genes, is telling scientists not only how, but why, our bodies respond to toxins.
Pharmacogenomics, the study of how drugs interact with the proteins of our bodies, is transforming pharmaceutical research, offering the potential for tailoring drugs to fit a patient's individual genetic information, thereby providing treatment that is more effective and less risky.1
Just as they are impacting science and medicine, these advances will also affect our legal system, and the kinds of cases and issues that are litigated. Already, the DNA technology that preceded the Human Genome Project has revolutionized the practice of law in certain kinds of cases, such as criminal and paternity. The emerging applications of the Human Genome Project should have a similar impact on civil litigation. These applications are creating a whole range of issues that the legal system will have to address. Some issues are obvious, such as how legislatures and courts will ensure the confidentiality of an individual's genetic information, whether insurance companies and employers should even have access to a person's genetic information, and how to protect the individual from improper use of his genetic information. Others may be less obvious, though, such as how these advances will affect the standard of care in medical cases, or proof of causation in toxic injury cases. This article examines these other effects.
The developing knowledge of DNA and human genes will enable parties to prove facts that could not have been proven before. In some cases, it may help injured persons to prove that they are entitled to recover, while in others it may absolve innocent defendants of liability. But regardless of how this technology plays out in an individual case, these developments will have a far-reaching effect on civil litigation.
A Primer On Dna And Genes
Genes are substantial factors in many diseases. A gene simply provides the cell with a chemical code for making a certain protein. A normal gene acts as a molecular blueprint for making a functioning protein, but a defective one may not produce some protein that is essential to a person's health. Cancer, Alzheimer's disease, sickle cell anemia, and Parkinson's disease are but a few examples of diseases that are caused by genetic defects. Thus, knowing how proteins relate to diseases is the key to understanding genetic medicine, as well as its likely impact on civil litigation. This is because, inside our cells, proteins perform thousands of basic functions. However, when proteins are not properly formed because of a genetic defect, it can result in disease. The following are but a few of the thousands of diseases whose roots are found in some genetic defect.
Hemoglobin is the protein in red blood cells that transports oxygen. But if a genetic defect hinders the formation of hemoglobin, the body will not possess the tools (hemoglobin) to perform this function efficiently. This causes anemia, and we call this disease sickle cell anemia.
Cystic fibrosis is a disease characterized by a genetic defect that affects the quality and quantity of mucous that the body produces, causing the lungs to become filled with too much mucous. This fosters infections that can seriously damage the lungs.
In Parkinson's disease, a genetic defect prevents the formation of a protein in the brain that is supposed to break down toxins.
With some forms of cancer, the immune system fails to make proteins that are supposed to suppress tumor growth.2
Realizing the connection between diseases, proteins, and genes, scientists in the 1990's began the Human Genome Project, an international effort to determine the exact chemical structure of human DNA. As a result, the exact location and structure of every human gene found on the DNA molecule have been determined. Genomics tells doctors how a normal gene should look. This standard can then be compared to any individual's DNA, his genes. Individual differences can be thought of as genetic markers. Some genetic markers are associated with significant, even catastrophic, diseases, while others appear meaningless. It all depends where on the DNA chain the marker is found, and which gene is involved. The study of genetic markers is generating a huge industry aimed at developing new drugs, new diagnostic tests, and new therapies. For example, it is expected that soon genetic tests will be used identify these markers in individual patients. Such tests will replace biopsies and x-rays as a diagnostic test for cancer.3
But simply knowing the structure of a functioning gene is only a start. Through proteomics, toxicogenomics, and pharmacogenomics, scientists are discovering:
Why some genetic defects are harmless, while others are fatal.
Why some diseases can result from a single genetic defect, while others require complex interrelationships of multiple genetic defects.
Why some diseases are present at birth, while others develop late in life.
How to predict the likelihood...