What do you think?
Rate this book
Geny. Medyczne tajemnice i niesamowita opowieść o ich wyjaśnieniu
Dzielimy 51% genów z drożdżami i 98% z szympansami, więc to nie genetyka czyni nas ludźmi.
Po raz pierwszy w naszym zasięgu jest zdolność zrozumienia, co tak naprawdę oznacza "bycie człowiekiem".
Dr Euan Ashley w fascynujący sposób opowiada o niezwykłej podróży odkrywania ludzkiego genomu, naszego "kodu życia". Niczym śledczy pokazuje drogę od informacji genetycznej do praktyki lekarskiej, opowiadając historie pacjentów, których życie zmieniło się dzięki znajomości genomu.
Dr Ashley z jasnością i prostotą, a jednocześnie z pasją, opisuje, w jaki sposób jego zespół jako pierwszy przeanalizował i zinterpretował kompletny genom ludzki. Opowiada jak zdiagnozowali i leczyli nowo narodzoną dziewczynkę, której serce zatrzymało się pierwszego dnia życia i jak u pewnego chłopca z guzami rosnącymi wewnątrz serca udało się skorelować podłoże tego problemu z brakującym fragmentem genomu.
To właśnie ci pacjenci zainspirowali doktora Ashleya i jego zespół do sięgnięcia poza granice medycznych możliwości człowieka i do stworzenia wizji przyszłości, w której sekwencjonowanie genomu będzie dostępne dla wszystkich, a medycynę będziemy dostosowywać tak, aby leczyć konkretne choroby.
Po raz pierwszy w naszym zasięgu jest zdolność zrozumienia, co tak naprawdę oznacza "bycie człowiekiem".
Dr Euan Ashley w fascynujący sposób opowiada o niezwykłej podróży odkrywania ludzkiego genomu, naszego "kodu życia". Niczym śledczy pokazuje drogę od informacji genetycznej do praktyki lekarskiej, opowiadając historie pacjentów, których życie zmieniło się dzięki znajomości genomu.
Dr Ashley z jasnością i prostotą, a jednocześnie z pasją, opisuje, w jaki sposób jego zespół jako pierwszy przeanalizował i zinterpretował kompletny genom ludzki. Opowiada jak zdiagnozowali i leczyli nowo narodzoną dziewczynkę, której serce zatrzymało się pierwszego dnia życia i jak u pewnego chłopca z guzami rosnącymi wewnątrz serca udało się skorelować podłoże tego problemu z brakującym fragmentem genomu.
To właśnie ci pacjenci zainspirowali doktora Ashleya i jego zespół do sięgnięcia poza granice medycznych możliwości człowieka i do stworzenia wizji przyszłości, w której sekwencjonowanie genomu będzie dostępne dla wszystkich, a medycynę będziemy dostosowywać tak, aby leczyć konkretne choroby.
552 pages, Paperback
First published February 23, 2021
238 people are currently reading
4521 people want to read
About the author
Euan Angus Ashley
2 books51 followersEuan Ashley is a professor of medicine and genetics at Stanford University. He was born in Scotland and graduated from the University of Glasgow. He attended Oxford University, completing a Ph.D. there before moving to Stanford University, where he trained in cardiology and genetics. After joining the faculty, he led the team that carried out the first medical interpretation of a human genome. Ashley has received innovation awards from the National Institutes of Health and the American Heart Association. He was recognized by the Obama White House and received the Medal of Honor from the American Heart Association.
Dr. Ashley's articles have appeared in many journals, including the Lancet, the New England Journal of Medicine, the Journal of the American Medical Association, Nature, and Cell. He appears regularly on local and national radio and TV. He is the founder of three companies and advisor to several well known Silicon Valley companies. With three young children, he spends his spare time trying to understand American football, play the saxophone, and conduct research on the health benefits of single malt Scotch whisky.
Dr. Ashley's articles have appeared in many journals, including the Lancet, the New England Journal of Medicine, the Journal of the American Medical Association, Nature, and Cell. He appears regularly on local and national radio and TV. He is the founder of three companies and advisor to several well known Silicon Valley companies. With three young children, he spends his spare time trying to understand American football, play the saxophone, and conduct research on the health benefits of single malt Scotch whisky.
Ratings & Reviews
Friends & Following
Create a free account to discover what your friends think of this book!
Community Reviews
Displaying 1 - 30 of 230 reviews
October 3, 2023
Prima secvențiere completă a genomului uman a costat 3 miliarde de dolari. În prezent, prețul a coborât la 1 000 de dolari. Există speranța că ar putea deveni procedură de masă. Fiecare pacient să aibă genomul secvențiat.
Doar 2% din genom este reprezentat de gene (se numește exom), restul este ocupat de ceea ce înainte se numea ”ADN rezidual”, dar acum se știe că sunt zonele reglatoare ale genelor, care activează și dezactivează genele. Avantajul secvențierii complete este că pot fi diagnosticate boli genetice rare, inclusiv din zonele de reglare. Autorul a colaborat cu Rețeaua de Boli Nediagnosticate și descrie câteva cazuri.
Dar nu numai cei cu boli genetice rare pot beneficia de secvențiere. Genomul poate revela bolile pentru care există predispoziție, iar cei interesați pot lua măsuri, își pot schimba alimentația, administra medicamente sau interveni chirurgical. În plus, genetica poate îmbunătăți tratamentul. Anumite gene sunt importante în metabolizarea medicamentelor. Subdomeniul geneticii care se ocupă cu studiul interacțiunii dintre gene și medicamente se numește farmacogenomică.
Marea promisiune a geneticii medicale este terapia genică: repararea genelor defecte sau adăugarea celor care lipsesc.
O carte excelentă.
Doar 2% din genom este reprezentat de gene (se numește exom), restul este ocupat de ceea ce înainte se numea ”ADN rezidual”, dar acum se știe că sunt zonele reglatoare ale genelor, care activează și dezactivează genele. Avantajul secvențierii complete este că pot fi diagnosticate boli genetice rare, inclusiv din zonele de reglare. Autorul a colaborat cu Rețeaua de Boli Nediagnosticate și descrie câteva cazuri.
Dar nu numai cei cu boli genetice rare pot beneficia de secvențiere. Genomul poate revela bolile pentru care există predispoziție, iar cei interesați pot lua măsuri, își pot schimba alimentația, administra medicamente sau interveni chirurgical. În plus, genetica poate îmbunătăți tratamentul. Anumite gene sunt importante în metabolizarea medicamentelor. Subdomeniul geneticii care se ocupă cu studiul interacțiunii dintre gene și medicamente se numește farmacogenomică.
Marea promisiune a geneticii medicale este terapia genică: repararea genelor defecte sau adăugarea celor care lipsesc.
O carte excelentă.
February 28, 2021
This is a fantastic book about using DNA to develop personalized treatments for patients with rare diseases. Dr. Ashley is a cardiologist, and at Stanford, he is a professor of medicine and genetics. He uses genomic medicine to predict what treatments are best for individuals with diseases. He uses the patient's DNA, along with that of the patient's family and a DNA database that he helped develop. It is personalized genetic medicine.
And the author belongs to the UDN--the Undiagnosed Diseases Network. This is a diverse network of doctors and genetics researchers who team together to solve very difficult cases and develop individualized treatments. The UDN is successful because of NIH support, because the tests involved are not limited to those covered by medical insurance. In addition, genetic sequencing of family members allows researchers to narrow down the list of suspect genes. Ultimately, the extra genetic testing ends up saving a lot of money by avoiding extra days in an ICU. Before coming to the UDN, medical costs averaged over $300,000. UDN evaluation is less than $20,000. Early diagnosis can be transformative.
The book stresses the importance in the Bayh-Dole Act of 1980, which allows U.S. universities to benefit financially from intellectual property developed with federal research funds. This act allowed the swift development and refinement of DNA sequencing and genome analysis.
Sherlock Holmes is mentioned a number of times, as this book is a collection of real detective stories. For example, there is an amazing story about a young family that had a baby with a rare genetic defect that caused huge developmental issues. They undertook numerous trips to get genetic diagnoses, and enlisted the help of two genetics teams to independently seek the genes that cause the disease. The teams agreed on one particular defective gene as the culprit. The father also did a lot of biochemistry research, and found that the gene breaks down a bond between a particular protein and a sugar molecule. Then he found that Amazon sells that particular sugar in a supplemental tablet form. He tried out the tablet on himself with no significant ill effects. He then tried it out on the baby at a correspondingly lower dosage--and it worked! The genome analysis of the baby and the parents had other benefits as well; the teams concluded that a second baby would not be likely to acquire the same disease. This was confirmed early in a subsequent pregnancy, that the genetic variant was not present. Then the parents set up the Grace Science Foundation, to help families and researchers working on that gene. There are now over 50 patients worldwide with this illness. While patients are not 100% cured, their lives have been greatly helped.
The author uses wonderful analogies to help readers understand how the rare illnesses are caused by genetic defects. These analogies really help puts this book into a league of its own. They help deepened my understanding of the biochemical concepts.
One of the great advantages of genomics (the analysis and understanding of a genome), is that it helps to prove cause and effect. This is an invaluable aid in the pharmaceutical development of new medicines. The book has an excellent discussion of the dichotomy between correlation and causation. Many of our assumptions about medicine are faulty. For example, the author shows why taking medication to boost the HDL cholesterol level and thereby lower the LDL/HDL ratio does not reduce heart disease. There is a correlation between low ratios and lower risk of heart disease, but not a causative mechanism. This new understanding comes from massive genomic studies. This book is up-to-date; the development of the new vaccines against the coronavirus is discussed.
I love to read scientific books where the author conducts a significant amount of research in the field. It is so much more engaging when the author writes "I discovered ..." or "we found that ..." instead of "they found that ...". My predilection for this type of book is conditioned on whether the book is well-written. In this case, Dr. Ashley is not only a great researcher, but a phenomenal author; he makes complex stories come alive.
(Truth in advertising: I received this book as a pre-publication copy, in return for an honest review.)
And the author belongs to the UDN--the Undiagnosed Diseases Network. This is a diverse network of doctors and genetics researchers who team together to solve very difficult cases and develop individualized treatments. The UDN is successful because of NIH support, because the tests involved are not limited to those covered by medical insurance. In addition, genetic sequencing of family members allows researchers to narrow down the list of suspect genes. Ultimately, the extra genetic testing ends up saving a lot of money by avoiding extra days in an ICU. Before coming to the UDN, medical costs averaged over $300,000. UDN evaluation is less than $20,000. Early diagnosis can be transformative.
The book stresses the importance in the Bayh-Dole Act of 1980, which allows U.S. universities to benefit financially from intellectual property developed with federal research funds. This act allowed the swift development and refinement of DNA sequencing and genome analysis.
Sherlock Holmes is mentioned a number of times, as this book is a collection of real detective stories. For example, there is an amazing story about a young family that had a baby with a rare genetic defect that caused huge developmental issues. They undertook numerous trips to get genetic diagnoses, and enlisted the help of two genetics teams to independently seek the genes that cause the disease. The teams agreed on one particular defective gene as the culprit. The father also did a lot of biochemistry research, and found that the gene breaks down a bond between a particular protein and a sugar molecule. Then he found that Amazon sells that particular sugar in a supplemental tablet form. He tried out the tablet on himself with no significant ill effects. He then tried it out on the baby at a correspondingly lower dosage--and it worked! The genome analysis of the baby and the parents had other benefits as well; the teams concluded that a second baby would not be likely to acquire the same disease. This was confirmed early in a subsequent pregnancy, that the genetic variant was not present. Then the parents set up the Grace Science Foundation, to help families and researchers working on that gene. There are now over 50 patients worldwide with this illness. While patients are not 100% cured, their lives have been greatly helped.
The author uses wonderful analogies to help readers understand how the rare illnesses are caused by genetic defects. These analogies really help puts this book into a league of its own. They help deepened my understanding of the biochemical concepts.
One of the great advantages of genomics (the analysis and understanding of a genome), is that it helps to prove cause and effect. This is an invaluable aid in the pharmaceutical development of new medicines. The book has an excellent discussion of the dichotomy between correlation and causation. Many of our assumptions about medicine are faulty. For example, the author shows why taking medication to boost the HDL cholesterol level and thereby lower the LDL/HDL ratio does not reduce heart disease. There is a correlation between low ratios and lower risk of heart disease, but not a causative mechanism. This new understanding comes from massive genomic studies. This book is up-to-date; the development of the new vaccines against the coronavirus is discussed.
I love to read scientific books where the author conducts a significant amount of research in the field. It is so much more engaging when the author writes "I discovered ..." or "we found that ..." instead of "they found that ...". My predilection for this type of book is conditioned on whether the book is well-written. In this case, Dr. Ashley is not only a great researcher, but a phenomenal author; he makes complex stories come alive.
(Truth in advertising: I received this book as a pre-publication copy, in return for an honest review.)
February 2, 2021
If there is one thing this book made me reflect on, it’s the importance of every single scientific discovery, no matter how long it takes for the next big step to come to fruition. The discovery of the genetic code happened in the 1950s, and then in the 1980s we had break throughs in genetic engineering. Another few decades later and we made strides in sequencing the human genome. When I think about all of the brilliant scientific minds who contributed to where we are today, and where we will be in the future, I’m humbled. It takes a high degree of intelligence, of course. But more than that, it takes people who are intellectually curious, who are ok to try and fail and try again, and who hope that their work carries on long past themselves.
In The Genome Odyssey, Dr. Ashley begins with the basics and describes the science behind the genome, as well as making the case for where science is now and where we might be heading in terms of the breadth of impact this research is primed to have. One thing that has changed since the early years of human genome sequencing is the accessibility and cost of sequencing an individual genome, which he compares to a similar cost as other basic tests doctors order for their patients all the time.
Gentetic sequencing is more than just understanding the composition of each gene, it also is a process of understanding what each gene does. What this means is that in the future, we may be able to target interventions based on specific genetic abnormalities. With highlights on different scientists and agencies that have made break throughs or targeted specific questions to answer, Dr. Ashley walks us through where genetic sequencing is and where it is going.
I will say that though this was explained at an approachable level, this book is full of heavy scientific information. I was able to follow along, but this wasn’t a read-in-one-weekend sort of book. But for those curious and passionate about science and understanding the link between genetic sequencing and scientific break throughs that impact the human race, this is a fascinating book that provides a lot of hope for the future.
Thank you to Celadon Books for my copy. Opinions are my own.
In The Genome Odyssey, Dr. Ashley begins with the basics and describes the science behind the genome, as well as making the case for where science is now and where we might be heading in terms of the breadth of impact this research is primed to have. One thing that has changed since the early years of human genome sequencing is the accessibility and cost of sequencing an individual genome, which he compares to a similar cost as other basic tests doctors order for their patients all the time.
Gentetic sequencing is more than just understanding the composition of each gene, it also is a process of understanding what each gene does. What this means is that in the future, we may be able to target interventions based on specific genetic abnormalities. With highlights on different scientists and agencies that have made break throughs or targeted specific questions to answer, Dr. Ashley walks us through where genetic sequencing is and where it is going.
I will say that though this was explained at an approachable level, this book is full of heavy scientific information. I was able to follow along, but this wasn’t a read-in-one-weekend sort of book. But for those curious and passionate about science and understanding the link between genetic sequencing and scientific break throughs that impact the human race, this is a fascinating book that provides a lot of hope for the future.
Thank you to Celadon Books for my copy. Opinions are my own.
January 31, 2021
I think what I marvel at the most about Genome Oddysey is that it manages to be informative and in-depth while simultaneously having writing and characters that are easy to follow and relatable.
This book was definitely a step out of what I usually read, but a lot of the concepts I read in the description really did draw me in. Like mentioned, I found it really easy to follow and learned a lot of new things about the possible opportunities of these super-recent and very important medical tools. It was fascinating to read about and definitely something I'll try to follow the progress of in the future.
What I thought was going to be something I'd be reading for a week or two ended up being something I could easily finish in a few days. What made me able to finish it so quickly was how Ashley could take real cases and explore how they could be cured or mended with these new scientific findings.
Great read, even for those who are going in completely blind with the subject matter. I would recommend!
This book was definitely a step out of what I usually read, but a lot of the concepts I read in the description really did draw me in. Like mentioned, I found it really easy to follow and learned a lot of new things about the possible opportunities of these super-recent and very important medical tools. It was fascinating to read about and definitely something I'll try to follow the progress of in the future.
What I thought was going to be something I'd be reading for a week or two ended up being something I could easily finish in a few days. What made me able to finish it so quickly was how Ashley could take real cases and explore how they could be cured or mended with these new scientific findings.
Great read, even for those who are going in completely blind with the subject matter. I would recommend!
April 17, 2021
I need to properly review this (this review is way overdue) but this book was released a few days ago and I wanted to say that this book is one I highly recommend. If you're even the slightest bit interested in science, medicine, or finding cures really, I recommend picking this up. The book is written in a way that makes it easy to understand regardless of your background, which I really appreciated. I've also seen the audiobook in my library's app and I think that would honestly be the best way to consume it, if you can get your hands on it. Not only is it well-read, but it's read by the author himself (and he's got a lovely accent, which is always a small bonus I appreciate!).
Either way, I highly recommend this book and feel so lucky I was chosen to receive an advance reading copy because this wasn't a book on my radar but I'm so glad I got to read it.
It's just incredible. All of it. More on that when I properly review this.
Thank you for the publisher for the advance reading copy, given in exchange for my honest thoughts.
Either way, I highly recommend this book and feel so lucky I was chosen to receive an advance reading copy because this wasn't a book on my radar but I'm so glad I got to read it.
It's just incredible. All of it. More on that when I properly review this.
Thank you for the publisher for the advance reading copy, given in exchange for my honest thoughts.
June 28, 2024
The book is mainly about the very recent history & applications of genomics of the last 20 or so years with the rough starting point at the Human Genome Project.
I would read an intro pop sci books on genes before reading this book as the concepts aren't really explained deeply in this book (I really, really recommend The Gene: An Intimate History)
The author, Dr Ashley is clearly one of those clinical researcher/medical doctors who are truly expanding the clinician's repertoire of tools.
It is due to people of his genus (Haha, see what I did here? why are you rolling your eyes?) that we owe the progress of medicine to.
The book is divided into four parts
Part I - Recap of the sequencing of the human genome and how he and his colleagues came to build tools and processes for analyzing the human genome.
Part II - A history of the creation of the Undiagnosed Diseases Network and how using genomics as a tool is the missing key in a lot of these cases.
Part III - Goes through some interesting cases that he has personally been involved in as a cardiologist and genomics researcher (all involving the human heart).
Part IV - His thoughts on the future of clinical genomics such as its role in drug discovery and personalized medicine
Highly recommended read if you are interested in genomics or medical mystery cases (though don't expect an Oliver Sacks level style of storytelling)
I would read an intro pop sci books on genes before reading this book as the concepts aren't really explained deeply in this book (I really, really recommend The Gene: An Intimate History)
The author, Dr Ashley is clearly one of those clinical researcher/medical doctors who are truly expanding the clinician's repertoire of tools.
It is due to people of his genus (Haha, see what I did here? why are you rolling your eyes?) that we owe the progress of medicine to.
The book is divided into four parts
Part I - Recap of the sequencing of the human genome and how he and his colleagues came to build tools and processes for analyzing the human genome.
Part II - A history of the creation of the Undiagnosed Diseases Network and how using genomics as a tool is the missing key in a lot of these cases.
Part III - Goes through some interesting cases that he has personally been involved in as a cardiologist and genomics researcher (all involving the human heart).
Part IV - His thoughts on the future of clinical genomics such as its role in drug discovery and personalized medicine
Highly recommended read if you are interested in genomics or medical mystery cases (though don't expect an Oliver Sacks level style of storytelling)
May 17, 2021
This book is a bit outside my usual genres, but I was intrigued by the description and I was not disappointed. It was maybe a little more heavy on the science than I needed, but it was also full of writing that felt like a person was just talking to me, not a famous doctor or scientist but just someone I’d bumped into or was friends with. There were even surprising moments of humor! And the anecdotes were full of relate able characters that were clearly seem as more than their disease or genetic defect. I would have liked even more anecdotes but I know that is me and my style preferences. It was fascinating to see how science has jumped leaps and bounds in just the last couple of decades. It was interesting to see how genome sequencing could be used to help figure out what was wrong and what kind of treatment would be effective. Definitely things I had never considered when he onslaught of various dna sequencing companies blossomed over the recent years.
February 24, 2021
I have always gravitated to the mysteries of the human body, how each cell in our body works and even to the genes that make up our traits, characters, how we laugh or smile.
This book is so thrilling and so exciting to read for a science book. Dr Ashley’s passion jumps through the pages as he tells the story of how his team used human genome to treat and diagnose medical mysteries to save lives.
Reading this equates to a mystery and thriller genre where you just could not turn those pages fast enough to see read about these mysterious cases and the big reveal of how these mysteries are solved!!
I am so excited for you to get a chance to read this exciting book!
This book is so thrilling and so exciting to read for a science book. Dr Ashley’s passion jumps through the pages as he tells the story of how his team used human genome to treat and diagnose medical mysteries to save lives.
Reading this equates to a mystery and thriller genre where you just could not turn those pages fast enough to see read about these mysterious cases and the big reveal of how these mysteries are solved!!
I am so excited for you to get a chance to read this exciting book!
January 6, 2024
Cartea asta mi-a plăcut foarte mult, dar în același timp am lăsat-o deoparte atât de mult timp, damn. Dualitatea mea când vine vorba de această carte este imposibil de măsurat.
Doresc să îi dau 4.5/5⭐️ deoarece este cât se poate de educativă, în sensul că are foarte multe analogii bune, ușor de înțeles și uneori impresionante, dar nu mi-au plăcut strict momentele în care se prezenta fiecare membru al echipei foarte pe larg; am cel mai mare respect pentru acei oameni, dar doresc să aflu mai multe date despre biologie nu despre câte diplome are un anumit doctor, mulțumesc 🥰 prea multă reclamă pentru sănătatea mea mintală și răbdarea mea din momentul acela.
Consider că aceasta este o carte foarte bună, însă ar putea fi scrisă un pic mai compact, desigur🥰
~> No quotes today dar o informație foarte ciudată mi s a lipit de creier:
~> Există dopaj cu sânge?! Let me explain.
• Un sportiv de performanță are o competiție foarte importantă curând, să zicem chiar de talie mondiala.
• Cu o lună înainte de competiție i se extrage o parte din globulele roșii și se depozitează până în apropierea concursului. Între timp, organismul sesizează scăderea globulelor roșii și trimite prin eritropoetină semnal către măduvă să producă eritrocite.
• Ulterior sportivul își reface astfel echilibrul de globule rosii, iar în apropierea concursului i se adaugă în organism acele eritrocite prelevate cu o lună mai înainte. Cantitatea suplimentară de globule roșii va crește capacitățile sportive ale individului, alături de aportul de oxigen direcționat către mușchi și creier.
"În mod normal, 35%-45% din volumul de sânge este ocupat de globule roșii"
"Sportivul devine suspect de dopaj cu sânge dacă procentul depășește 50%"
Sportivul Mäntyranta însă nu a utilizat vreo tehnică de dopaj de acest fel pentru a ajunge la un procent de hematii cuprins între 60% și 70%, aproape dublu față de procentul normal. Acesta, împreună cu 29/97 de membrii ai familiei lui aveau așa-zisa "genă sportivă".
"Dacă proporția de globule roșii din sânge crește la 50% (...) acest lucru sporește performanța maximă cu 10%, (...) timpul până la epuizare (...) a crescut și cu 50%". Această genă este asociată cu longevitatea și performanțe fizice excepționale.
Povestea lui Mäntyranta a fost cuprinsă în capitolul Supraoameni, el însuși fiind considerat un supraom prin abilitățile sale și avantajul său genetic. Astfel, în acest capitol (preferatul meu) se discută avantaje și dezavantaje genetice provenite de la o aparent "mică" schimbare în ADN.
Doresc să îi dau 4.5/5⭐️ deoarece este cât se poate de educativă, în sensul că are foarte multe analogii bune, ușor de înțeles și uneori impresionante, dar nu mi-au plăcut strict momentele în care se prezenta fiecare membru al echipei foarte pe larg; am cel mai mare respect pentru acei oameni, dar doresc să aflu mai multe date despre biologie nu despre câte diplome are un anumit doctor, mulțumesc 🥰 prea multă reclamă pentru sănătatea mea mintală și răbdarea mea din momentul acela.
Consider că aceasta este o carte foarte bună, însă ar putea fi scrisă un pic mai compact, desigur🥰
~> No quotes today dar o informație foarte ciudată mi s a lipit de creier:
~> Există dopaj cu sânge?! Let me explain.
• Un sportiv de performanță are o competiție foarte importantă curând, să zicem chiar de talie mondiala.
• Cu o lună înainte de competiție i se extrage o parte din globulele roșii și se depozitează până în apropierea concursului. Între timp, organismul sesizează scăderea globulelor roșii și trimite prin eritropoetină semnal către măduvă să producă eritrocite.
• Ulterior sportivul își reface astfel echilibrul de globule rosii, iar în apropierea concursului i se adaugă în organism acele eritrocite prelevate cu o lună mai înainte. Cantitatea suplimentară de globule roșii va crește capacitățile sportive ale individului, alături de aportul de oxigen direcționat către mușchi și creier.
"În mod normal, 35%-45% din volumul de sânge este ocupat de globule roșii"
"Sportivul devine suspect de dopaj cu sânge dacă procentul depășește 50%"
Sportivul Mäntyranta însă nu a utilizat vreo tehnică de dopaj de acest fel pentru a ajunge la un procent de hematii cuprins între 60% și 70%, aproape dublu față de procentul normal. Acesta, împreună cu 29/97 de membrii ai familiei lui aveau așa-zisa "genă sportivă".
"Dacă proporția de globule roșii din sânge crește la 50% (...) acest lucru sporește performanța maximă cu 10%, (...) timpul până la epuizare (...) a crescut și cu 50%". Această genă este asociată cu longevitatea și performanțe fizice excepționale.
Povestea lui Mäntyranta a fost cuprinsă în capitolul Supraoameni, el însuși fiind considerat un supraom prin abilitățile sale și avantajul său genetic. Astfel, în acest capitol (preferatul meu) se discută avantaje și dezavantaje genetice provenite de la o aparent "mică" schimbare în ADN.
February 1, 2021
I have been interested in genome research since I first heard about it. As a genealogy researcher, I am curious about what we inherit from our ancestors. I seek out family resemblances and inherited traits, finding my eyes in one relative, my body type in another.
I wonder what health issues I inherited, or did not inherit. My mother had autoimmune diseases, and so do I. My grandfather had horrible ragweed allergies, and so does our son. My father had non-Hodgkin's lymphoma, and so does my cousin. My aunt and her two children struggled with alcoholism. Two grandfathers (aged 52 and 68) and an uncle (age 34) died of heart attacks.
For some people, their genes are secret time bombs. A healthy athlete suffers a sudden heart attack and dies. A baby's normal progress stops, and even regresses.
What if there was a test that could warn us of impending or likely health issues so doctors could be prepared to remedy or even cure them? What if it was affordable for everyone? What if if was part of our normal preventative health care insurance?
This could be reality.
The Genome Odyssey is a fascinating narrative of Dr. Ashley's research in genome sequencing and how it was applied to solve medical mysteries.
The science is very accessible in presentation, so that even non-medical folk like myself can understand how genes and sequencing works. The personal stories of those whose lives were changed through genome sequencing and genetic therapy are affecting. For some, simple OTC supplements changed their life.
The author addresses the current Sars-CoV-2 pandemic, telling how the scientific community swung into action even as governments floundered, and explaining how vaccines was developed and how the different kinds work on the virus.
"Could even more widespread use of genomics have gotten us further ahead of this pandemic to begin with?", he asks. He notes that wastewater can predict which community will have the next rise in infections. If we systematically tested wastewater the way we test drinking water, we could be prepared to prevent disease flareups.
In a capitalist, profit-driven health system, the question is who will pay. Will the rich only benefit, or those victims of rare diseases who are covered by research grants? Another issue to be addressed is the privacy of genome information and its use. Ashley adds, "Just because we can, doesn't mean we should. Nor does it mean that we can afford it."
Yet the possibilities of what doctors will be able to do in the future are endless.
I received an ARC from the publisher through Bookish First. My review is fair and unbiased.
I wonder what health issues I inherited, or did not inherit. My mother had autoimmune diseases, and so do I. My grandfather had horrible ragweed allergies, and so does our son. My father had non-Hodgkin's lymphoma, and so does my cousin. My aunt and her two children struggled with alcoholism. Two grandfathers (aged 52 and 68) and an uncle (age 34) died of heart attacks.
For some people, their genes are secret time bombs. A healthy athlete suffers a sudden heart attack and dies. A baby's normal progress stops, and even regresses.
What if there was a test that could warn us of impending or likely health issues so doctors could be prepared to remedy or even cure them? What if it was affordable for everyone? What if if was part of our normal preventative health care insurance?
This could be reality.
The Genome Odyssey is a fascinating narrative of Dr. Ashley's research in genome sequencing and how it was applied to solve medical mysteries.
The science is very accessible in presentation, so that even non-medical folk like myself can understand how genes and sequencing works. The personal stories of those whose lives were changed through genome sequencing and genetic therapy are affecting. For some, simple OTC supplements changed their life.
The author addresses the current Sars-CoV-2 pandemic, telling how the scientific community swung into action even as governments floundered, and explaining how vaccines was developed and how the different kinds work on the virus.
"Could even more widespread use of genomics have gotten us further ahead of this pandemic to begin with?", he asks. He notes that wastewater can predict which community will have the next rise in infections. If we systematically tested wastewater the way we test drinking water, we could be prepared to prevent disease flareups.
In a capitalist, profit-driven health system, the question is who will pay. Will the rich only benefit, or those victims of rare diseases who are covered by research grants? Another issue to be addressed is the privacy of genome information and its use. Ashley adds, "Just because we can, doesn't mean we should. Nor does it mean that we can afford it."
Yet the possibilities of what doctors will be able to do in the future are endless.
I received an ARC from the publisher through Bookish First. My review is fair and unbiased.
January 27, 2025
An amazing, well written book that takes the reader into a journey of genetics, genomics and the possibilities lies in precision/ personalized medicine.
Genetics is a fascinating subject and the author describes his personal experience as a practicing physician in the field of cardiology, genetics and rare diseases. He explains the history around human genome project, and how the advances in the genomics helps a team of healthcare workers to make the right decisions for patients who are impacted by genetics diseases. While he explains complex genetic concepts in an easy to understand way and some excellent analogies, he also gives many real life examples of his patients which allows reader to understand the impact of a genetic disease to a patient, to their family and how much teamwork and collaboration is needed to help those patients.
Each patient story in the book is amazing. As a person who has been trained in the field of Medicine, I was amazed how well he told the stories of these patients. His narration style keeps the reader engaged and provides an amazingly vivid view of the patient's stories. Through the stories he explains how rare diseases are investigated, how much effort goes into finding the right answer for the patients and if/once found, how much these interventions changes people's and their loved ones' lives.
Through the patient stories he also explains in a very engaging way how genetics work, what are the processes of mapping the genome, how much advancement we witnessed to genome mapping over the last few decades, how do metabolic diseases and gene defects cause debilitating diseases and what are the new ways of treating them.
I also loved that he talks about the team members he worked with in detail and always emphasizes the successes they had in managing these complex patients are the results of many talented, dedicated and smart people as a team.
In general, this was a fascinating book to read. Yes it is bit technical but I think Dr. Euan makes those technical aspects easy to understand for many readers. His narration style makes the book flow and as the reader I wanted to hear the next patient story and what additional concepts and treatment methods/technology it would introduce. Definitely recommend to anyone who is interested in medicine, genetics, genomics and future of medicine.
Disclaimers:
1. I received an advance copy of this book from the publisher for an honest review. However due to the fact the vaccination phase of the pandemic came and I ended up being in charge with lot of vaccine related activities, I was not able to read it earlier. But once I started recently, I really enjoyed it and wanted to also hear the audiobook and finished the second half with the audiobook I purchased on my own. I strongly recommend the audiobook version, since the author narrates it and he is also a great narrator.
2. The author works at Stanford, and so do I. However when the advance copy was offered to me it was a coincidence and the publisher didn't know we worked at the same place. I do not know the author personally, our paths have not crossed professionally, and the only impact us sharing the same employer was the familiarity of some names mentioned in the book, which made it even more fun to read.
Genetics is a fascinating subject and the author describes his personal experience as a practicing physician in the field of cardiology, genetics and rare diseases. He explains the history around human genome project, and how the advances in the genomics helps a team of healthcare workers to make the right decisions for patients who are impacted by genetics diseases. While he explains complex genetic concepts in an easy to understand way and some excellent analogies, he also gives many real life examples of his patients which allows reader to understand the impact of a genetic disease to a patient, to their family and how much teamwork and collaboration is needed to help those patients.
Each patient story in the book is amazing. As a person who has been trained in the field of Medicine, I was amazed how well he told the stories of these patients. His narration style keeps the reader engaged and provides an amazingly vivid view of the patient's stories. Through the stories he explains how rare diseases are investigated, how much effort goes into finding the right answer for the patients and if/once found, how much these interventions changes people's and their loved ones' lives.
Through the patient stories he also explains in a very engaging way how genetics work, what are the processes of mapping the genome, how much advancement we witnessed to genome mapping over the last few decades, how do metabolic diseases and gene defects cause debilitating diseases and what are the new ways of treating them.
I also loved that he talks about the team members he worked with in detail and always emphasizes the successes they had in managing these complex patients are the results of many talented, dedicated and smart people as a team.
In general, this was a fascinating book to read. Yes it is bit technical but I think Dr. Euan makes those technical aspects easy to understand for many readers. His narration style makes the book flow and as the reader I wanted to hear the next patient story and what additional concepts and treatment methods/technology it would introduce. Definitely recommend to anyone who is interested in medicine, genetics, genomics and future of medicine.
Disclaimers:
1. I received an advance copy of this book from the publisher for an honest review. However due to the fact the vaccination phase of the pandemic came and I ended up being in charge with lot of vaccine related activities, I was not able to read it earlier. But once I started recently, I really enjoyed it and wanted to also hear the audiobook and finished the second half with the audiobook I purchased on my own. I strongly recommend the audiobook version, since the author narrates it and he is also a great narrator.
2. The author works at Stanford, and so do I. However when the advance copy was offered to me it was a coincidence and the publisher didn't know we worked at the same place. I do not know the author personally, our paths have not crossed professionally, and the only impact us sharing the same employer was the familiarity of some names mentioned in the book, which made it even more fun to read.
June 4, 2021
RATING: 4 STARS
2021; Celadon Books
I will be completely honest and say that I was a bit intimidated to start The Genome Odyssey. I love science, but after grade 11 science, my brain was not having it. Now that I don't have to read for school, I can be a bit gentle with myself. Some of the book was a bit over my head, but on the whole Ashley does a great job in explaining things. The stories/mysteries in the book were a great balance as it made the book flow better. I started it back in April, and read a good chunk in a sitting but it took me over a month to get back to it. It is one of those books you pick up, and just read till your mind needs a break. As the story wraps up, and I put it down, I didn't have that compulsion to get back to it. That's kind of what happens to me with nonfiction books, unless the story carries to the end. That is not a negative thing to the book at all. I think that it's a strength that it is a book you will read over time. I did pick it back up this week and read it in two more sittings. I felt very proud of myself for finishing this book, and it not being a chore to complete. It is a book, I think, I will pick up again to read certain portions. Genetics are so interesting, and my interest has increased in knowing more with DNA being used with genealogy to solve cold cases. This is not what this book was about, but it just shows how much there is in our body that pinpoints who we are. I do wonder with genetic mapping in the future, if it will be come a bit more affordable and will it help prolong life. Or maybe a healthier life. If you have an interest in science but are like me, a bit overwhelmed with some topics, I think this might be a good book to try!
***I received a complimentary copy of this ARC galley from the publisher. Opinions expressed in this review are entirely my own.***
2021; Celadon Books
I will be completely honest and say that I was a bit intimidated to start The Genome Odyssey. I love science, but after grade 11 science, my brain was not having it. Now that I don't have to read for school, I can be a bit gentle with myself. Some of the book was a bit over my head, but on the whole Ashley does a great job in explaining things. The stories/mysteries in the book were a great balance as it made the book flow better. I started it back in April, and read a good chunk in a sitting but it took me over a month to get back to it. It is one of those books you pick up, and just read till your mind needs a break. As the story wraps up, and I put it down, I didn't have that compulsion to get back to it. That's kind of what happens to me with nonfiction books, unless the story carries to the end. That is not a negative thing to the book at all. I think that it's a strength that it is a book you will read over time. I did pick it back up this week and read it in two more sittings. I felt very proud of myself for finishing this book, and it not being a chore to complete. It is a book, I think, I will pick up again to read certain portions. Genetics are so interesting, and my interest has increased in knowing more with DNA being used with genealogy to solve cold cases. This is not what this book was about, but it just shows how much there is in our body that pinpoints who we are. I do wonder with genetic mapping in the future, if it will be come a bit more affordable and will it help prolong life. Or maybe a healthier life. If you have an interest in science but are like me, a bit overwhelmed with some topics, I think this might be a good book to try!
***I received a complimentary copy of this ARC galley from the publisher. Opinions expressed in this review are entirely my own.***
June 20, 2021
This book gave a great overview of the field of precision medical genomics and includes personal patient story as told by the doctor/researcher author. I listened on audio, but also found myself purchasing a copy to take notes.
April 13, 2021
Summary: I loved the patient stories in this book and am excited to find a popular science book explaining the details of precision medicine.
If you've ever been interested in the potential of genome sequencing for personalized medicine, I highly recommend this book. Stanford professor and author, Dr. Euan Ashley, covers the development of sequencing technology in great detail. He also includes many fascinating, moving cases of patients who have been helped by precision medicine. Then he wraps up with a look to possible future developments in the field.
This book is very close to covering exactly what I do for work (although I'm on the research side, not in medicine). In some ways, that makes me a great reader and reviewer for this book. I can tell you that it contains accurate information with a high degree of confidence. Personally, it also made it more fun to read that I've met some of the people mentioned and heard of many others. On the other hand, I don't feel confident in my ability to tell if concepts were explained clearly enough for any reader. I know I admired some of the analogies the author used and I think everything is explained well. I already knew many of the concepts in this book though, so it's probably easier for me to follow than for other readers. I also found it a little more difficult to enjoy this during a week when I was already quite busy with work!
I thought the level of detail the author went into was quite impressive. He didn't avoid explaining technical concepts, which were necessary for him to tell some incredible stories. While the technical bits make me excited to be able to recommend this to anyone who wants to know more about what I do, the patient stories were my favorite parts. The research descriptions included some good people stories, but nothing so moving as hearing about how scientific advances improved quality and/or length of life for specific patients. For that reason, I would also recommend this book to people who enjoy medical memoirs, although only if you're up for a healthy does of science concepts as well. And this is definitely the book I'll reach for in the future if someone wants to understand how sequencing technology can impact health and medicine.This review was originally posted on Doing Dewey
If you've ever been interested in the potential of genome sequencing for personalized medicine, I highly recommend this book. Stanford professor and author, Dr. Euan Ashley, covers the development of sequencing technology in great detail. He also includes many fascinating, moving cases of patients who have been helped by precision medicine. Then he wraps up with a look to possible future developments in the field.
This book is very close to covering exactly what I do for work (although I'm on the research side, not in medicine). In some ways, that makes me a great reader and reviewer for this book. I can tell you that it contains accurate information with a high degree of confidence. Personally, it also made it more fun to read that I've met some of the people mentioned and heard of many others. On the other hand, I don't feel confident in my ability to tell if concepts were explained clearly enough for any reader. I know I admired some of the analogies the author used and I think everything is explained well. I already knew many of the concepts in this book though, so it's probably easier for me to follow than for other readers. I also found it a little more difficult to enjoy this during a week when I was already quite busy with work!
I thought the level of detail the author went into was quite impressive. He didn't avoid explaining technical concepts, which were necessary for him to tell some incredible stories. While the technical bits make me excited to be able to recommend this to anyone who wants to know more about what I do, the patient stories were my favorite parts. The research descriptions included some good people stories, but nothing so moving as hearing about how scientific advances improved quality and/or length of life for specific patients. For that reason, I would also recommend this book to people who enjoy medical memoirs, although only if you're up for a healthy does of science concepts as well. And this is definitely the book I'll reach for in the future if someone wants to understand how sequencing technology can impact health and medicine.This review was originally posted on Doing Dewey
April 3, 2021
Three stars really only reflects how I feel about this one personally and how much I could absorb from it, not the quality or content of the book itself. Which feels important to emphasize here because this is an intense look at many incredible people doing unprecedented things that are becoming of ever greater importance and advancing medicine in leaps and bounds in a very short time. As the author points out, genome sequencing has already come so far, its cost reduced and capabilities expanded exponentially just in the last decade. The promise of precision medicine and the wealth of information available in each individual’s genome is dizzying.
But unfortunately so much of this just whooshed right over my head, even having read a couple of books on genetics and epigenetics. The author does include a bit much detail, especially around so many players involved, and he gives some identifying characteristics and interests of each one meant to flesh them out a bit from being just names on a page, but it all ended up feeling like way too much. I took a few important points from it, and it’s an area I want to try to learn much more about, but I think without a better background or foundation this is just going to be tough to wade through at times, despite the author’s best efforts.
But unfortunately so much of this just whooshed right over my head, even having read a couple of books on genetics and epigenetics. The author does include a bit much detail, especially around so many players involved, and he gives some identifying characteristics and interests of each one meant to flesh them out a bit from being just names on a page, but it all ended up feeling like way too much. I took a few important points from it, and it’s an area I want to try to learn much more about, but I think without a better background or foundation this is just going to be tough to wade through at times, despite the author’s best efforts.
dnf
March 10, 2021My cousin is a Genetic Counselor, so I was excited to read THE GENOME ODYSSEY to learn about her line of work and be able to chat with her about it. While the book is extremely well-written, I was not able to finish it. I was never that great of a science student growing up. General ideas were always very interesting, but those classes were consistently the most difficult for me. All of that being said, I think science is SUPER cool and interesting--I just think I do better with science related topics in a visual setting like a documentary. I wanted to start out with this disclaimer because I don't think this book is bad by any means, I'm just not the best audience for this book.
I will say I enjoyed the different patient stories and how genetics were used to identify and treat certain medical conditions. The book reminded me a bit of the tv show House in this way. Using science and technology to help solve a medical mystery. This topic is one that I would love to learn more about, but the book was a bit too dense for me. I will be sending my copy on to my cousin who I'm sure will love this book!
I will say I enjoyed the different patient stories and how genetics were used to identify and treat certain medical conditions. The book reminded me a bit of the tv show House in this way. Using science and technology to help solve a medical mystery. This topic is one that I would love to learn more about, but the book was a bit too dense for me. I will be sending my copy on to my cousin who I'm sure will love this book!
January 10, 2021
This is a fascinating and encouraging book that starts with mapping the human genome and all the pieces that seem to have fallen into place to allow that to happen. In reality, there was loads of research and effort, science and hard work leading to it. As the cost came down and it became more accessible to more people, and technology allowed physicians and scientists globally to put pieces together and find more people with rare diseases, and solutions and treatments, the sharing of information became, and is still becoming, priceless and more widely available. Patients and their families are no longer alone and lost with no future in sight. The stories as they are told here, truly medical miracles, could only happen because of the work that is happening with the human genome. #genomeodyssey; #celadonreads; @celadonbooks; #partner
January 5, 2021
This is not something I would generally read. It has alot of medical and scientific terminology and can be hard to follow, at least for me it was. I did find certain aspects very intriguing and fascinating, like the stories of patients and their medical issues. I found it to be heartening that there are medical experts working very hard to help us cure diseases!
January 30, 2021
First, I want to say thank you to Celadon Books for providing me with an Advance Reader Copy of this book. This is the first one I've ever received and it was such an unexpected surprise when it came in the mail (I had honestly forgotten I had signed up to apply for one)!
On to the book...
I found myself pleasantly surprised with how the book read. I was concerned that it might be too technical, that I might spend too much time having to look up terms or processes, to be able to really enjoy the book. That wasn't the case. The first part of the book is a bit worse in this regard than the rest of it. The author lays the groundwork for all the genome work to come, and so a fair bit of time is spent laying out the process of reading, sequencing, interpreting et al. It did make for some dry reading, and despite the author's honest attempt at explaining it in layman's terms, it was still a bit much. Luckily, the majority of the book doesn't suffer for the dry beginning.
The only other thing that may make your average reader not enjoy it is the plethora of medical terminology. For those unfamiliar with the large words (or who haven't ever taken a class on medical terminology) it can be daunting. But here, the author does a better job of explaining what's what. I didn't struggle with this aspect of the book -- the medical conditions being treated and the patient experiences laid out are what drew me to this book more than just the actual story of how genetics had progressed in the past half century.
The patient stories are actually what surprised me most. I half-expected that the author would fumble in the telling. He's clearly at home discussing medicine and tech, of explaining complex ideas. How would he do trying to convey a human experience? Not many authors can pull off both of those things - they require wildly different writing ability, I think. But he nailed it.
If he failed anywhere, I have to say it's in how he spent so much time trying to minimally describe each member of the team involved in the patient's case. Everyone was a force of nature, larger than life, a polymath. I appreciate that he wanted to highlight all the individuals because each contributed in some way to the overall outcome, I can appreciate that he wants to recognize and give credit where it's due. But it's enough to name a person. We don't need everyone's impressive list of credentials, schooling, and hobbies. And also, after a point, you recycle the same adjectives to describe them. Are they all clones of one person? It began to feel like it.
Overall it was a solid book and I enjoyed it more than I thought I would, if only because it was an 'easier' -- that is not technically bogged down -- book than I was expecting. Certainly it makes you think, certainly it makes you pause to look something up. But I didn't feel like I was lost wading through a medical journal or a tech manual. In the world of narrative non-fiction, it fits perfectly.
If would have loved more patient cases, and I would have loved for them to suffer from more than genetic cardiac diseases (I get that the author is a cardiologist, I'm just saying, it's not my favorite specialty). To read a similar book about how gene therapy has revolutionized cancer care, the care of CNS diseases, autoimmune conditions. There is SO MUCH to explore, and if this author attempted to catalog those stories, I would read it in a heartbeat. I would also read a book he wrote about CRISPR as this was probably one of the things I was most excited to get an in-depth look at. It was briefly mentioned, but I really wish that could've been explored more.
On to the book...
I found myself pleasantly surprised with how the book read. I was concerned that it might be too technical, that I might spend too much time having to look up terms or processes, to be able to really enjoy the book. That wasn't the case. The first part of the book is a bit worse in this regard than the rest of it. The author lays the groundwork for all the genome work to come, and so a fair bit of time is spent laying out the process of reading, sequencing, interpreting et al. It did make for some dry reading, and despite the author's honest attempt at explaining it in layman's terms, it was still a bit much. Luckily, the majority of the book doesn't suffer for the dry beginning.
The only other thing that may make your average reader not enjoy it is the plethora of medical terminology. For those unfamiliar with the large words (or who haven't ever taken a class on medical terminology) it can be daunting. But here, the author does a better job of explaining what's what. I didn't struggle with this aspect of the book -- the medical conditions being treated and the patient experiences laid out are what drew me to this book more than just the actual story of how genetics had progressed in the past half century.
The patient stories are actually what surprised me most. I half-expected that the author would fumble in the telling. He's clearly at home discussing medicine and tech, of explaining complex ideas. How would he do trying to convey a human experience? Not many authors can pull off both of those things - they require wildly different writing ability, I think. But he nailed it.
If he failed anywhere, I have to say it's in how he spent so much time trying to minimally describe each member of the team involved in the patient's case. Everyone was a force of nature, larger than life, a polymath. I appreciate that he wanted to highlight all the individuals because each contributed in some way to the overall outcome, I can appreciate that he wants to recognize and give credit where it's due. But it's enough to name a person. We don't need everyone's impressive list of credentials, schooling, and hobbies. And also, after a point, you recycle the same adjectives to describe them. Are they all clones of one person? It began to feel like it.
Overall it was a solid book and I enjoyed it more than I thought I would, if only because it was an 'easier' -- that is not technically bogged down -- book than I was expecting. Certainly it makes you think, certainly it makes you pause to look something up. But I didn't feel like I was lost wading through a medical journal or a tech manual. In the world of narrative non-fiction, it fits perfectly.
If would have loved more patient cases, and I would have loved for them to suffer from more than genetic cardiac diseases (I get that the author is a cardiologist, I'm just saying, it's not my favorite specialty). To read a similar book about how gene therapy has revolutionized cancer care, the care of CNS diseases, autoimmune conditions. There is SO MUCH to explore, and if this author attempted to catalog those stories, I would read it in a heartbeat. I would also read a book he wrote about CRISPR as this was probably one of the things I was most excited to get an in-depth look at. It was briefly mentioned, but I really wish that could've been explored more.
January 22, 2021
This work highlights the human genome and how genome analysis in the future could become a standard form of care. After reading this work I realized that medical professionals having our genetic makeup accessible could be incredibly beneficial in supporting personalized medicine. This work is quite detailed, and I did have to reread some sections because the concepts were important but quite complex. The work also highlights how our human genome has been so powerful in delivering support through personalized medicine to individuals with rare conditions. Both my brothers passed away from Huntington’s disease and wonder if this technology will be able to support Huntington’s in the future. The Genome Odyssey contains cutting edge scientific research, stories that highlight the value of the human genome for supporting individuals with rare conditions, and provides helpful knowledge to better understand our human genome. This is a work I enjoyed reading for my own personal knowledge, but could also see being utilized in college coursework due to the in depth and valuable scientific information. I received this arc from celadonbooks in exchange for my honest thoughts.
September 30, 2020
This is an absolutely fascinating book. While it can get a bit medical and hard to follow at times, it is written generally for the layperson, and I learned so much about the history of genetics, a lot of which is unfolding right now in our time. Dr. Ashley talks about how gene sequencing went from being horrifyingly expensive and impractical to a useful tool in diagnosing medical mysteries. He has been on the front lines of all these new technologies, working at Stanford and participating in many new initiatives, and he details his involvement in all of them here. I particularly liked the story of the novel disease unit (I don't remember the official name) - but Dr. Ashley discusses how it was formed and how they operate now. It's like a real-life version of House, a show I loved before it jumped the shark. Anyway, if you are interested at all in genetics or medicine, this is a must-read - especially for fans of Sam Kean's THE VIOLINIST'S THUMB and Jamie Metzl's HACKING DARWIN.
March 29, 2024
5 million Stars standing ovation round of applause! This book took you on our journey from where genome sequencing began to where it is Now people and families it's helped and saved the doctors who helped the patients that were Brave willing to try something new after years and years of suffering or even being told they were going to die. I cried a dozen times And was almost ready to cheer by the end of the book.
December 31, 2020
This book is informative, encouraging, and inspirational. It highlights so many brave, brilliant, and caring people, all working overtime to do their best to help all of us. The complexity of the subject matter sometimes made for a difficult read, although overall the author did a good job of making it understandable for the average reader.
January 30, 2021
Thank you to @celadonbooks for sending me an advance copy of The Genome Odyssey by Dr. Ashley which publishes February 23, 2021.
This book follows genetic medicine since the human genome was mapped. The first 100 pages or so cover the history and advances in technology to read and interpret genome sequences. This part of the book felt a bit like a medical textbook but is worth your time in order to set the stage for the rest of the book that shares different patients and their rare gene differences and how they came to be discovered and in some cases treated.
I found the different patient cases quite fascinating and enjoyed how the author painted the patient’s lifestyles and attributes in addition to their medical history. The author also gives credit and humanizes the many contributors to the puzzles. This information can sometimes seem indulgent as there are many names and I, as the reader, was anxious to get to the next case but is important as these are people who have made great contributions to science and medicine.
The author compares the decreasing cost of whole genome sequencing to the cost of a Ferrari that has depreciated in value to the point where many can afford it. Where it once may have cost 100K to complete, that can now be done for around 1K. It struck me throughout that the people who were able to use this scientific advancement to better understand their diseases were privileged people. Except in rare occasions where donations to charitable organizations were made, the recipients were wealthy, connected individuals. With the ongoing advances in sequencing genes I hope that more insurance companies cover the cost and that it becomes more accessible to everyone.
I really enjoyed reading this book and encourage you to pick this one up if you are interested in medicine, disease and science. Although many of the diseases the human genome sequencing is hoping to learn more about are rare, there are enough rare diseases that many of the readers will know at least one person who could benefit from this service.
This book follows genetic medicine since the human genome was mapped. The first 100 pages or so cover the history and advances in technology to read and interpret genome sequences. This part of the book felt a bit like a medical textbook but is worth your time in order to set the stage for the rest of the book that shares different patients and their rare gene differences and how they came to be discovered and in some cases treated.
I found the different patient cases quite fascinating and enjoyed how the author painted the patient’s lifestyles and attributes in addition to their medical history. The author also gives credit and humanizes the many contributors to the puzzles. This information can sometimes seem indulgent as there are many names and I, as the reader, was anxious to get to the next case but is important as these are people who have made great contributions to science and medicine.
The author compares the decreasing cost of whole genome sequencing to the cost of a Ferrari that has depreciated in value to the point where many can afford it. Where it once may have cost 100K to complete, that can now be done for around 1K. It struck me throughout that the people who were able to use this scientific advancement to better understand their diseases were privileged people. Except in rare occasions where donations to charitable organizations were made, the recipients were wealthy, connected individuals. With the ongoing advances in sequencing genes I hope that more insurance companies cover the cost and that it becomes more accessible to everyone.
I really enjoyed reading this book and encourage you to pick this one up if you are interested in medicine, disease and science. Although many of the diseases the human genome sequencing is hoping to learn more about are rare, there are enough rare diseases that many of the readers will know at least one person who could benefit from this service.
February 9, 2021
The human genome has been fully sequenced, and the cost of doing so for any given person is decreasing rapidly. But what to do with that large amount of information? This is where Dr. Ashley steps in. He and a team of researchers at Stanford worked to analyze the medical implications of the complete genome to improve patient care. In this book, Dr. Ashley shares his team's medical detective work.
The book includes highly technical language, and I found myself remembering back to when I learned the structure of DNA abd genes. However, the stories are told in an engaging, conversational tone with lots of metaphors to make the science more clear.
I especially enjoyed that the book (and the team doing the research) brought in an ethical perspective from the very beginning. Noting that examining genes for medical purposes has implications beyond the patient, they considered how genetic counseling and informed consent needed to be approached.
My favorite aspects were the focus on helping families with undiagnosed diseases. As the book points out, the uncertainty of having no diagnosis is such a strain. I was also fascinated to learn about the latest developments in precision medicine and CRISPR.
The book includes highly technical language, and I found myself remembering back to when I learned the structure of DNA abd genes. However, the stories are told in an engaging, conversational tone with lots of metaphors to make the science more clear.
I especially enjoyed that the book (and the team doing the research) brought in an ethical perspective from the very beginning. Noting that examining genes for medical purposes has implications beyond the patient, they considered how genetic counseling and informed consent needed to be approached.
My favorite aspects were the focus on helping families with undiagnosed diseases. As the book points out, the uncertainty of having no diagnosis is such a strain. I was also fascinated to learn about the latest developments in precision medicine and CRISPR.
September 4, 2023
3.5 stars rounded up. As a fellow MD/PhD practicing in genomics, I thought Dr. Ashley did a very nice job of writing an engaging, fascinating book about his area of clinical focus, cardiovascular disease with germline origin/predisposition. I loved how he integrated so many patient stories into his work, and gave his impressions about the future of the field with the introduction of genetic therapies, direct-to-consumer genomics companies, and many of the ways in which our genetic makeup will personalize our healthcare in the coming decades.
However, there were a lot of crucial ethical, financial, and social issues surrounding genomic medicine that weren't discussed (or were only mentioned in passing) in this text -- likely a deliberate choice to avoid complicating the narrative. Things like how Zolgensma (the breakthrough genetic therapy for spinal muscular atrophy) costs in excess of $2 million US dollars and many insurances don't cover it, how gene patenting stymied clinical genetic testing for many years (see The Genome Defense: Inside the Epic Legal Battle to Determine Who Owns Your DNA) and still remains a threat, and the whole issue of privacy in genetic testing (spoiler: your genetic information is highly identifiable and the notion of privacy is a myth).
However, there were a lot of crucial ethical, financial, and social issues surrounding genomic medicine that weren't discussed (or were only mentioned in passing) in this text -- likely a deliberate choice to avoid complicating the narrative. Things like how Zolgensma (the breakthrough genetic therapy for spinal muscular atrophy) costs in excess of $2 million US dollars and many insurances don't cover it, how gene patenting stymied clinical genetic testing for many years (see The Genome Defense: Inside the Epic Legal Battle to Determine Who Owns Your DNA) and still remains a threat, and the whole issue of privacy in genetic testing (spoiler: your genetic information is highly identifiable and the notion of privacy is a myth).
January 7, 2021
Fascinating look into the genome project. Interesting to learn the DNA we all carry can be sequenced and can be used to understand, diagnose and treat ailments that we carry. It was interesting to read how how Dr. Ashley's team was the first team to interpret a full human genome on patient zero.
Individual patient stories were very interesting to me. The Undiagnosed Diseases Program which does research of previously unknown genetic abnormalities is one result of the genome sequencing project.
The development of the genome sequencing allows for research of previously unknown genetic abnormalities. So much is possible by the decoding of our genetics.
This is a very readable and interesting book about some of the wonders of medicine and scientific breakthroughs. This would be a very interesting book for anyone interested in medicine and science.
Individual patient stories were very interesting to me. The Undiagnosed Diseases Program which does research of previously unknown genetic abnormalities is one result of the genome sequencing project.
The development of the genome sequencing allows for research of previously unknown genetic abnormalities. So much is possible by the decoding of our genetics.
This is a very readable and interesting book about some of the wonders of medicine and scientific breakthroughs. This would be a very interesting book for anyone interested in medicine and science.
December 2, 2022
Apparently people also write reviews for DNFs too... This book was my first attempt to venture into nonfiction on something related to natural science and I genuinely found it interesting and I really love the vision he laid and the stories that accompany it. I do think genetics will play a massive role in the future of healthcare, and I might pick it up again at some point, but for now I'm going to leave it on the shelf
February 11, 2021
Thank you Celadon Books for the advanced review copy!
I expected this book to read more like a textbook and my expectations were wrong. Dr. Euan Angus Ashley takes such a complex subject matter and brings it to a personal and understandable level. The individual stories of actual patients takes the science and makes it make sense. Very interesting book and well written!
I expected this book to read more like a textbook and my expectations were wrong. Dr. Euan Angus Ashley takes such a complex subject matter and brings it to a personal and understandable level. The individual stories of actual patients takes the science and makes it make sense. Very interesting book and well written!
April 15, 2021
What an interesting topic! This book really takes you through how mapping genomes can help determine risk or figure out unknown genetic disease or conditions. This type of research has come a long way in identifying health issues and determining ways to treat them and ways to improve a patient's life.
Displaying 1 - 30 of 230 reviews