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Clinical Genomics: Practical Applications in Adult Patient Care
Autor: 
Murray Michael

Recently, the National Institutes of Health (NIH) has requested grant applications for pilot studies to determine the potential role of whole genome sequencing during newborn screening, when virtually every baby born in the United States has a small blood sample taken by a heel stick. Having a complete genomic profile from birth would obviate the need for any future blood or DNA sampling in order to obtain genetic testing information; one would only access the data from a patient's electronic health record, personal health vault, or their smart phone. Besides the stunning technical advances, application of large-scale sequencing has led to unexpected and game-changing biological and medical insights. At the top of my list for these changes has been the realization in oncology that a tumor's genomic profile of mutations is more important in determining the appropriate choice of chemotherapeutic agent than the organ in which a tumor originates (eg, breast or lung), necessitating a complete revamping of cancer taxonomy for diagnosis and treatment and promising much improved survival rates.

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