From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

Genomic technologies are being rapidly applied to the area of prenatal diagnosis, and many genomic prenatal tests have already been transitioned to the clinic. Diana Bianchi reviews these advances in prentatal diagnosis and highlights the challenges in bringing them to the clinic. She also discusses how genomic and transcriptomic technologies might be applied to understand the pathology of fetal diseases and disorders of pregnancy and, perhaps, develop new therapies for these conditions. Genomic technologies are being rapidly applied to the area of prenatal diagnosis, and many genomic prenatal tests have already been transitioned to the clinic. Diana Bianchi reviews these advances in prentatal diagnosis and highlights the challenges in bringing them to the clinic. She also discusses how genomic and transcriptomic technologies might be applied to understand the pathology of fetal diseases and disorders of pregnancy and, perhaps, develop new therapies for these conditions. Thus far, the focus of personalized medicine has been the prevention and treatment of conditions that affect adults. Although advances in genetic technology have been applied more frequently to prenatal diagnosis than to fetal treatment, genetic and genomic information is beginning to influence pregnancy management. Recent developments in sequencing the fetal genome combined with progress in understanding fetal physiology using gene expression arrays indicate that we could have the technical capabilities to apply an individualized medicine approach to the fetus. Here I review recent advances in prenatal genetic diagnostics, the challenges associated with these new technologies and how the information derived from them can be used to advance fetal care. Historically, the goal of prenatal diagnosis has been to provide an informed choice to prospective parents. We are now at a point where that goal can and should be expanded to incorporate genetic, genomic and transcriptomic data to develop new approaches to fetal treatment.