Major Trends in Molecular Pathology

No market for molecular biology products is affected by so many outside forces as the molecular diagnostic marketplace. Several of the most important factors exerting influence on the types and amounts of molecular biology reagents purchased by molecular pathologists are described below:

The Human Genome Project

No single factor will have a greater positive effect on the future of molecular diagnostics than the Human Genome Project. By the year 2005, the Project team will accomplish the primary objective of discovering, mapping and sequencing the 50,000 to 100,000 human genes. Current estimates place the number of known inherited diseases at approximately 4,000; gene based tests have only been developed for about one eighth of these conditions, due in part to the fact that many of the genes responsible remain unidentified and/or uncharacterized.

The Human Genome Project will allow scientists to pair inherited disorders with the gene(s) responsible and facilitate the development of nucleic acid based diagnostic tests. As a result, early medical intervention, once impossible, will enable physicians to reduce or prevent symptoms, extending lives and reducing the financial burden on individuals and society. Anticipate the number of available tests to increase from approximately 400 to the thousands over the next several years.

The Individualization of Patient Therapy

Prior to the existence of molecular diagnostic testing, many diseases were combated with standard treatment regimens. However, nucleic acid based procedures which identify the specific genetic alterations responsible for a particular disease allow more accurate prediction of disease progression and improved design of therapeutic strategies. For example, molecular diagnostic testing can be used to identify subtypes of infectious organisms resistant to particular antibiotics. Additionally, molecular procedures can identify genetic rearrangements (such as the BCR-ABL translocation in acute lymphoblastic leukemia) that indicate a below average prognosis.

Physicians will use such information to help apply the treatment strategy that maximizes the patient's chance for survival. Currently, only about 40 to 50 molecular procedures are used directly to help design effective therapies. This number will expand rapidly over the coming decade, as particular genes are associated with the need for passive or aggressive protocols.