Post-genome molecular diagnostics in obstetrics

The intention of this review is to familiarize the practicing clinician with the current status and future direction of molecular testing in obstetrics. As a discipline, obstetrics and gynecology is unique in that it deals with the full spectrum of molecular genetic testing. This spectrum includes infectious disease, neoplasia and inherited diseases. This review will focus on inherited conditions and complex diseases, as it is in this context that we may fully realize the true promise of the human genome and its application to the practice of medicine.

Despite the successful sequencing of the human genome, very few new molecular genetic tests have become available. The apparent reason for this lies in the relative paucity of information gleaned from examining the genes themselves. Two new avenues of investigation are presently underway to improve the 'infirmity' of this information archive. Rather than merely looking at differential gene expression, clinician scientists have begun to examine genetic polymorphisms of single and multiple genes within and between individuals in an attempt to explain biologic processes, including disease states. The second avenue involves the characterization of the products of gene expression--proteins. Proteomics, in conjunction with high throughput polymorphism analysis, may enable us to diagnose and treat complex multifactorial diseases.

Molecular diagnostics for multifactorial diseases will become conceptually and technologically more complex than present DNA testing modalities. The development and ultimate acceptance of these tests will require greater coordination between the medical and scientific communities to ensure that the right technologies are applied to the highest quality samples to answer the most relevant questions.