The End of Genetics - David B Goldstein

Sub-title: Designing humanity's DNA

This was a startling book, with a perspective on the use of DNA for choosing the genes of children before birth.  I marked multiple pages.  The summary is that we will be able to alter the genetics prenatal before we have established whether we should, and if we do, for what reasons.  The author points out that as of now we are a long way from knowing the consequences of such changes. He even mentions sequencing the entire population as a way to "position the country to be more resilient in the face of future global health crises".  

p.7 - "If we consider only point mutations then each child born will have its own collection of brand-new mutations...between fifty and a few hundred...distributed throughout his or her genome, with the exact number depending very strongly on the age of the father."

p. 13 - "Alistair Moffat is the former chief executive officer of Britain's DNA, a now-defunct for-profit personal genomics company.[example of ridiculous claims]"

p. 23 "...437 genes [mendelian disease] that are known to cause diseases that are severe and present in childhood if a child carries two mutations.  'Screening for such mutations in people and prospective parents is now called carrier screening'."

p. 44 "...all four thousand genes that we now know about that cause severe inherited disease follow [Mendelian] pattern of inheritance."

p.59 "...the modern Synthesis, which unites Mendelian inheritance and Darwin's theory of evolution by natural selection and the Central Dogma, which describe the flow of information from DNA through RNA to the proteins responsible for the diversity of organisms on earth."

p. 94 "...polygenic risk scores ..are based on the complement of common variation an individual carries."

p. 108 "There will clearly be a very substantial market among prospective parents for any tools that can ensure the non-transmissions of variants causing disease that cannot be comprehensively cured."

p. 113 "Today we know of 1,488 genes that cause disease following a dominant mode of inheritance."

p. 117 "...it has been estimated that as many as two out of every hundred people carry a disease-causing mutation in one of these 'actionable' genes."

Published: 2021  Read: August 2022  Genre: Science