Apollo Medicine (Jan 2023)
From the double helix to the personal genomes
Abstract
In 1954, the seminal short paper in the Nature from James Watson and Francis Crick proposed the double helix model of deoxyribose nucleic acid. This amateur-looking concept changed the way molecular biology is now perceived. We are now celebrating the 70 years of the phenomenon discovery of the modern science that has revolutionized life sciences with a huge impact on many other related scientific disciplines. Fifty years later, the Human Genome Project offered the nearly complete draft sequence of the human genome that is now fully sequenced in the 70th year of the double helix. Technological advances have led to a rapid reduction in the cost of whole genome sequencing. It is now possible for anyone to get the personal genome sequenced for <US$500! The investigative field of human genetics has evolved into promising field of clinical genomics and genomic medicine. By far the major impact of human genome sequencing is evident from precision medicine and healthcare. Most common and rare disorders of unknown etiology can now be diagnosed and deciphered with precision using one of the next-generation genome sequencing techniques. Wide-ranging precision genome diagnostic opportunities now exist along with precision and personalized therapeutic options. In addition, precise personalized preventive healthcare is now possible for healthy people with a family history of monogenic/Mendelian disease or common complex medical conditions. The technology permits us to have the whole genome sequenced in a new born baby or anyone else of any age to assist with long-term preventive health and life style planning and necessary precautions.
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