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Clinical Genomics from Conception through Senescence
April 22, 2019 @ 3:00 pm - 3:45 pm PDTFree
Speaker: Aleks Rajkovic MD, PhD, Chief Genomics Officer, UCSF
Rapid progress in genomic medicine in recent years has made it possible to diagnose subtle genetic abnormalities in a clinical setting on routine basis. This has allowed for detailed genotype-phenotype correlations and the identification of the genetic basis of many congenital anomalies. Pre-conceptional, pre-implantation, prenatal and perinatal medicine have become growing users of genomic medicine. Population wide genomic sequencing is identifying carriers and individuals at risk for individually rare disorders, yet relatively common in aggregate. In addition to the availability of chromosomal microarray analysis, exome and whole-genome sequencing on pre- and postnatal samples, cell-free DNA has recently revolutionized the field of prenatal diagnosis. Noninvasive cell-free DNA represents the first application of genomic medicine to clinical practice. The population wide screening of aneuploidies, including detection of Klinefelter and other sex chromosome aneuploidies will have implications for earlier interventions and observations of such cases in pediatric practice. Although current utility of cell-free DNA lies in diagnosing aneuploidies, the non-invasive cell-free DNA diagnosis of fetal micro-deletions and micro-duplications is becoming a reality. Currently, efforts are under way to isolate circulating cells of fetal/placental origin from the maternal circulation. Reliable and economic isolation of such cells will make it possible to sequence genomes in utero. Genomic testing ranging from the preimplantation thru perinatal period has provoked ethical questions regarding variants of unknown significance and susceptibility to adult disorders. Moreover, rapidly advancing genomic technologies have initiated precision medicine efforts across large medical systems. These efforts are leading to innovations in how to deliver system-wide genomic medicine, how to build required informatics infrastructure, how to integrate results with current electronic medical records, how to view the individual as part of a family unit and reach out to family members at risk, and how to assess clinical utility of such efforts. Large genomic data sets are becoming an important part of big data initiatives to discern patterns of risk at an individual level. These findings are also showing us the limitations of classical genetic counseling and limitations of the family pedigree. The implementation of genomic medicine is a precursor of OMICS healthcare, healthcare tools likely to further innovate our diagnostics.