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DNA Sequencing and Facilitation of Diagnosis and Treatment Design: Entering the Age of Personalized Medicine

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Availability of the complete human genome sequence information has expanded possibilities for establishing diagnoses. Databases that store information and facilitate communication and information sharing facilitate sequence evaluation. Discoveries of the surprising extent of individual variations in the ...

Availability of the complete human genome sequence information has expanded possibilities for establishing diagnoses. Databases that store information and facilitate communication and information sharing facilitate sequence evaluation. Discoveries of the surprising extent of individual variations in the genome have propelled us into the era of personalized and precision medicine. Increasingly molecular techniques to analyze consequences of specific gene mutations and their downstream effects on gene regulation, protein functions, have potential to lead to potential therapeutic insights. Nucleic Acid analysis and mutation detection have already started to play an important role in Point-of-care testing, that gives immediate results in non-laboratory settings to support more patient-centered approaches to healthcare delivery.

Tumors evolve over the course of time and ongoing genomic studies provide guidance to oncologists regarding treatment options. Identification of genetic abnormalities in specific cancers have facilitated design of targeted therapies that frequently have dramatic positive effects. In addition to studies on blood to determine if specific germ line mutations are present, cancer genetics increasingly utilizes mutation analysis of tumors and there is a definite move toward “liquid biopsies”. Liquid biopsies, the analysis of cell free DNA in plasma and cerebrospinal fluid have been successfully used to determine treatment efficacy, and to reveal metastases and to analyze the mechanisms by which specific cancers become resistant to targeted therapies. Pre-prescription genetic information on a specific patient is particularly important when high- risk drugs are to be prescribed.

This Research Topic welcomes manuscripts that demonstrate advantages in specific cases of DNA sequencing for establishing disease diagnosis, defining possibilities for initiating therapies, and manuscripts dealing with the genetic counseling implications of DNA sequencing in patients. Manuscripts delineating use of nucleic acid sequencing in new approaches to point of care diagnostics are also welcomed.


Keywords: DNA, Sequencing, diagnosis, therapy, counselling


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