Practicing Prenatal Medicine in a Genomic Future: How the Practice of Pediatrics May (Or May Not) Change with the Introduction of Widespread Prenatal Sequencing

Expanded usage of next generation sequencing technologies in prenatal medicine is advancing simultaneously around the world, and diagnosis is shifting from the postnatal to the prenatal context. Practitioners caring for mother and baby have historically dichotomized their practices into prenatal and postnatal care, but the fetal genome remains unchanged and will likely be analyzed by the same genomicists across that continuum of care. This chapter addresses ways in which the future of children and pediatric medicine could be shaped by development of and access to prenatal genomic tests and the importance of educating future parents and their providers to make informed reproductive choices, especially during the current dynamic phase of genomics in which many variants identified are not definitively interpretable. Genetics and genomic technologies have been a valuable asset to prenatal diagnosis, and the role of genetic screening and diagnosis have increased significantly in the last decade. Similarly, pediatric diagnostic testing has improved significantly with the addition of genomic testing including initially chromosome microarray and then exome/genome sequencing. As methods to analyze and interpret the genome have improved on the postnatal side, the same strategies are used increasingly although with greater challenges due in part to incomplete phenotypes on the prenatal side. As reference data sets have improved to catalog normal variants and as turn-around times have shortened to meet the clinical needs of prenatal diagnosis, it is now becoming feasible to further expand genomic prenatal screening and diagnostic testing to improve the health of children. We look forward to how the future of children and pediatric medicine could be shaped by development of and access to prenatal genomic tests and the importance of educating future parents and their providers to make informed reproductive choices, especially during the current dynamic phase of genomics in which many variants identified are not definitively interpretable. Hopefully, the next generation of children will be healthier and have greater access to medical care that can prevent disease with early diagnosis of health threats.