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Conjoined twinning is a rare birth defect estimated to occur in about 1 in 50,000 to 100,000 births. The mechanism of conjoined twinning is not proven. Different forms of conjoined twinning are observed with the thoracopagus form being the most common. The rate of conjoined twinning is similar across all major populations. A dramatic malformation of this type would be an extraordinary occurrence leading...
Genome‐wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients. However, few variants have been integrated into routine clinical practice. The reasons for this are several, but two of the...
The United States health care system is undergoing significant change and is seeking innovations in care delivery and reimbursement models that will lead to improved value for patients, providers, payers, and employers. Genomic medicine has the potential to be a disruptive innovation that if implemented intelligently can improve value. The article presents the perspective of the leaders of a large...
Genomic Medicine is beginning to emerge into clinical practice. The National Human Genome Research Institute's Genomic Medicine Working Group consists of organizations that have begun to implement some aspect of genomic medicine (e.g., family history, systematic implementation of Mendelian disease program, pharmacogenomics, whole exome/genome sequencing). This article concisely reviews the working...
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