The Human Genome Project

Genomic diagnostics makes practical use of the wealth of HGP data by determining correlations between clinical phenotypes and their underlying genotypes, enabling us to give etiological faces to diseases for which none existed before.

An area where genomic diagnostics is anticipated to have great impact is prenatal testing. Because so much remains unknown about what causes spontaneous abortions or the development of idiopathic mental retardation, the medical community is eager to apply the latest in comprehensive genomic diagnostics to the prenatal setting.

However, within medicine, few concerns generate as much anxiety in those it affects --namely, expecting parents -- as prenatal diagnostics. This anxiety is justified considering full understanding of the clinical relevance of the HGP data often lags behind the technologies that utilize that information. With complete appreciation for every genotype/phenotype consequence yet to be attained, care should be taken when using this information in the prenatal setting. Additionally, sensitivities from sociological, psychological and ethno-religious perspectives further demands that prenatal genomic analysis be approached with exceptional caution and responsibility.

A primary technology that has parlayed the information from the HGP into clinical utility is that of array-based comparative genomic hybridization (aCGH.) Because this method makes use of the content of the human genome to screen a clinical sample for genomic copy number changes and hence many disease associations simultaneously in a patient, aCGH has become the most anticipated test in prenatal genetics. Combimatrix Molecular Diagnostics (CMDX) is a pioneer in the conversion of the HGP data into clinical diagnostics. CMDX is leading the vanguard of prenatal testing by offering cutting-edge genomic diagnostics while cognizant of its associated sensitivities and issues, ensuring medical practitioners receive the very best, responsible, and appropriate genomics based prenatal diagnostic testing.