title: Personalized genomic medicine with a patchwork, partially owned genome.
abstract: "His book was known as the Book of Sand, because neither the book nor the sand have any beginning or end." - Jorge Luis BorgesThe human genome is a three billion-letter recipe for the genesis of a human being, directing development from a single-celled embryo to the trillions of adult cells. Since the sequencing of the human genome was announced in 2001, researchers have an increased ability to discern the genetic basis for diseases. This reference genome has opened the door to genomic medicine, aimed at detecting and understanding all genetic variations of the human genome that contribute to the manifestation and progression of disease. The overarching vision of genomic (or "personalized") medicine is to custom-tailor each treatment for maximum effectiveness in an individual patient. Detecting the variation in a patient's deoxyribonucleic acid (DNA), ribonucleic acid (RNA), and protein structures is no longer an insurmountable hurdle. Today, the challenge for genomic medicine lies in contextualizing those myriad genetic variations in terms of their functional consequences for a person's health and development throughout life and in terms of that patient's susceptibility to disease and differential clinical responses to medication. Additionally, several recent developments have complicated our understanding of the nominal human genome and, thereby, altered the progression of genomic medicine. In this brief review, we shall focus on these developments and examine how they are changing our understanding of our genome.
authors.affiliation: Program on Neurogenetics, Yale University Medical School, New Haven, Connecticut 06511, USA. christopher.mason@yale.edu
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Mason
authors.forename: Michael R
authors.initials: MR
authors.lastname: Seringhaus
authors.forename: Clara
authors.initials: C
authors.lastname: Sattler de Sousa e Brito
mesh_terms: D002874:Chromosome Mapping / Q000639:trends*; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics / Q000639:trends*; D006801:Humans; D010597:Pharmacogenetics / Q000639:trends*; D017422:Sequence Analysis, DNA / Q000639:trends*; D020539:Sequence Analysis, Protein / Q000639:trends*