Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing

摘要: As with all fields of medicine, the first step toward medical management genetic disorders is obtaining an accurate diagnosis, which often requires testing at molecular level. Unfortunately, given large number conditions without a specific intervention, only rarely does diagnosis alter patient management—which raises question, what added value diagnosis? Given fast-paced advancement genomic technologies, this important question to address in context genome-scale testing. Here, we establishing using and highlight benefits drawbacks such We also review compare recent major studies implementing sequencing methods identify cohorts manifesting broad range Mendelian monogenic disorders. Finally, discuss potential future applications sequencing, as screening for rare conditions.