دانلود کتاب ژنتیک و ژنومیک در پزشکی، ویرایش دوم 2023

A rationale for establishing the first edition of Genetics and Genomics in Medicine was the suspicion that genomewide analyses might transform medicine. Using Sanger dideoxy sequencing the international Human Genome Project took about 13 years to deliver an almost complete genome sequence in 2003. Subsequent technological developments—first, genomewide microarray technologies and then massively parallel DNA sequencing —have certainly transformed genome analysis, permitting genome data in hours, not years. The preface to the first edition of this book also included this question: might we soon live in societies where genome sequencing of citizens becomes the norm? Well, that day seems much closer now as millions of people have their genome sequenced, and debate has begun on whether population neonatal genome sequencing should be considered. The genome sequencing revolution found early major applications in medical genetics, then hematology and oncology, but is now being increasingly applied across multiple other medical disciplines. Various national genomic medicine initiatives have recently been established and, in 2020, NHS England became the first national health service to offer whole genome sequencing to patients as part of routine care.