Genomics in cardiovascular disease

Abstract

A paradigm shift toward biology occurred in the 1990s and was subsequently catalyzed by the sequencing of the human genome in 2000. The cost of deoxyribonucleic acid (DNA) sequencing has gone from millions to thousands of dollars with sequencing of one's entire genome costing only $1,000. Rapid DNA sequencing is being embraced for single gene disorders, particularly for sporadic cases and those from small families. Transmission of lethal genes such as associated with Huntington's disease can, through in vitro fertilization, avoid passing it on to one's offspring. DNA sequencing will meet the challenge of elucidating the genetic predisposition for common polygenic diseases, especially in determining the function of the novel common genetic risk variants and identifying the rare variants, which may also partially ascertain the source of the missing heritability. The challenge for DNA sequencing remains great, despite human genome sequences being 99.5% identical, the 3 million single nucleotide polymorphisms responsible for most of the unique features add up to 40 to 60 new mutations per person which, for 7 billion people, is 300 to 400 billion mutations. It is claimed that DNA sequencing has increased 10,000-fold while information storage and retrieval only 16-fold. The physician and health user will be challenged by the convergence of 2 major trends, whole genome sequencing, and the storage/retrieval and integration of the data.