Clinical OMICS

NOV-DEC 2018

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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46 Clinical OMICs November/December 2018 www.clinicalomics.com Ronald Wapner, M.D., the director of Repro- ductive Genetics and the vice chair of research in Obstetrics and Gynecology for Columbia University Irving Medical Center, was a familiar face as he had performed my pre-natal genetic testing just three years prior, during my last pregnancy. Wapner kicked off his presentation with a 1977 paper from The Lancet which stated that "virtually all chromosomal abberations and many biochemical disorders can be detected by amnio- centisis and prenatal testing." Laughing that hubristic state- ment off, Wapner 's decades of experience dealing with the limitations of the available technologies made his passion for the future even more apparent. He added, "we've been looking for a way to do this for a long time." Prenatal testing has challenges that do not exist in the postnatal arena. Wapner explained that "some subtle abnormalities cannot be seen until the fetus is in front of you" and "no neurocognitive abnormalities are available. The timing poses a challenge where the phenotype is rap- idly evolving and there is a huge burden of turnaround time," he added. "We cannot take more than 2 or 3 weeks as some patients may choose to not continue the pregnancy, and some findings are not detectable until you are very close to those limits." With the stage set, Wapner moved from prenatal diagnosis to the focus of his talk: maternal fetal precision medicine. He added, "this is not just about terminating the pregnancy." Rather, it is about precision medicine on fetuses with struc- tural anomalies. Wapner 's research group has been working on a project for the last two years that performs trio (mother, father and baby) whole-exome sequencing (WES) on every pregnancy that walks into their center with any structural abnormality. The goal is to answer the question, "Is sequencing incremen- tally valuable at many levels for the evaluation of fetuses with an anomaly?" Out of 1,075 fetuses with congenital structural anom- alies, roughly 600 were excluded due to lack of father (an incomplete trio) and/or lack of consent, resulting in 364 sequenced patients. Fifty (13.7%) had a genetic diagnosis on sequencing. Wapner walked through several clinical cases to illustrate that there is valuable information gained that is often reassuring and does not necessarily lead to early termination. For example, it allows health professionals to be prepared to provide appropriate clinical care immedi- ately upon delivery and informs the correct drugs to give upon birth based on a particular genetic variant. In one case, the team was prepared for heart surgery within 24 hours of birth, something that would almost certainly not have been done without the prenatal sequence information. Other benefits of this approach include making informed decisions on where to deliver a baby and the type of deliv- ery. In addition, in utero fetal invasive surgery for certain disorders can be performed. Upon the diagnosis of a lethal abnormality, some parents make the decision for compas- sionate care and when that decision is made earlier, there is more time for preparations and more support. It is the Obstetrical Society's opinion that prenatal sequencing should be performed only in labs that have prior experience in prenatal diagnosis. Wapner warned that, "if you add a test in obstetrics, it will grow like wildflowers," but he believes that whole-exome sequencing should only be done in exclusive settings, with groups that are adept at this area. But in order for this method of precision care to take root, more data on genotypes and phenotypes is needed, including a repository exclusively for fetal phenotypes. The currently available post-natal data is not translatable Ronald Wapner, M.D., Columbia University Irving Medical Center (continued from previous page) Science Photo Library - SCIEPRO / Getty Images

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