HUM-MOLGEN archive: DIAG:

April 27, 1995 >From the DIAG: editor. Title: future directions of the DIAG: section of Hum-Molgen. The development of numerous molecular biology techniques has or will impact shortly on a number of clinical activities; they include diagnosis of diseases, risk assessment and therapy. I see this section as an opportunity to debate, exchange information and data among people involved or interested in the clinical application of molecular genetics in human diseases. The DIAGNOSTIC applications of molecular genetics represent the part with most widespread use at present. This can span from prenatal (or even preconception) diagnosis of heritable disease to diagnosis and follow-up of neoplastic patients. Many different techniques, from cytogenetics to in situ hybridization and to PCR-based assays are being developed. Hence the applications and implications of molecular diagnosis vary significantly according to the different field and technique used. However, a general factor is represented by the prognostic/therapeutic implications of diagnosis. The future expansion of this sector will probably be linked to the impact of the information provided on prognostic and/or therapeutic decisions. The THERAPEUTIC applications of molecular genetics are confined at present to very limited situations, but holds the greatest weight on the future development of this entire field. "Gene Therapy" is a term commonly used (and probably abused) today. I would use this term to define not just the introduction of genetic material into cells, but any attempt at modulating the expression of specific genes. The RISK assessment applications of molecular genetics encompass a growing series of assays that are or will not be used to diagnose or to treat diseases, but instead to define the probability (0 to 100) of an individual to develop a disease in the future. For this particular setting many different implications can be foreseen, many of them linked to the protection of individual privacy and to employment, insurance coverage, career development... Many of these issues will probably be also pertinent to the ETHIC section of Hum-Molgen.