Preimplantation Genetic Diagnosis in the Era of Genomic Medicine

October 30, 2017

(Medscape) – Genetic technologies are rapidly reshaping medical practice. In 2016, more than 48,000 genetic tests were ordered, many with the primary goal of confirming a clinical diagnosis and guiding medical decision-making.[1] The explosion of genomic diagnostics is allowing more patients to recognize when their own medical conditions are hereditary and, of importance, to understand the risk for their offspring to be similarly affected. Yet one of the most powerful tools of genetic disease prevention—preimplantation genetic diagnosis (PGD)—is frequently overlooked by clinicians.

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