With the completion of the Human Genome Project, we have learned that the word “normal” no longer has meaning when it comes to a person’s genetic makeup. Genetic variations occur in great numbers in our genome (our total genetic makeup). We are all unique, not only in our personalities and appearance, but in our genotype as well.

Scientists continue to work on ways to better understand the structure of our genetic makeup, which could allow for important advances in the prevention and treatment of many diseases. There are promising new screening tests on the horizon, such as one for ovarian cancer or Alzheimer disease that researchers are trying to replicate in other disorders as well.

Gene therapy is an approach to treating potentially lethal and disabling diseases that are caused by single gene deficiencies. With specialised techniques, gene expression can be manipulated to correct the problem in the particular patient, although the correction will not be passed along to the offspring of that patient. That is, corrections are made at the DNA molecule level to compensate for the abnormal gene so that the detrimental symptoms of the disease are not expressed in the patient. It is still highly experimental. Clinical trials are being conducted to see if this can be used to develop treatments for other diseases, including cancer, heart disease, and AIDS.

Further advances in technology and molecular biology laboratory techniques have led to a recent invention - the “gene chip” or microarray – which allows many genes to be examined together instead of one at a time as is done now. Gene chips are still being developed and tested for clinical use.

Further advances in genetic testing will eventually replace older methods of predicting prognosis, helping to treat only those patients who will respond to therapy and by helping to guide further research into these therapies. Recent advances are also helping to increase our understanding of some complex cancers, such as multiple myeloma and lymphoma. Without a doubt, there will be more and more advances in genetic research that will impact the laboratory tests available to all patients for detection and treatment of a variety of diseases.

This article was originally written by Barbara Border, PhD. (Associate Professor and Program Director, Molecular Pathology. Texas Tech University Health Sciences Center, Lubbock, TX) for Lab Tests Online US. It has been slightly modified for the LTO Australasia site.