Genomų amžius: Pasakojimai apie genetinės medicinos naujienas

by Steven M. Lipkin, Jon R. Luoma, Dalia Janušaitienė (Translator)

Žmogaus genomas sudarytas iš daugiau kaip trijų milijardų nukleotidų. Tik 50 milijonų iš jų formuoja konkrečius genus, koduojančius mūsų baltymus. Ši genomo dalis vadinama egzomu. Būtent jo defektai yra visų paveldimų ligų pagrindas.

Knygoje aptariamos šeimos problemos, kai joje gimsta paveldima liga sergantis vaikas. Skaitytojus ši knyga turėtų sudominti tuo, kad joje suprantamai paaiškinti naujausių technologijų, įskaitant in vitro apvaisinimą, prenatalinę ir preimplantacinę diagnostikas, taikymo privalumai ir trūkumai. Kitų šalių patirtis sprendžiant genetinių ligų diagnostikos ir gydymo išlaidų, taip pat specialistų klaidų kompensavimo problemas svarbi ir Lietuvos gyventojams, ir sveikatos priežiūros politikos formuotojams. Ypač daug dėmesio skiriama bioetiniams klausimams, susijusiems su naujausiomis technologijomis ir jų taikymu ligų diagnostikai ir gydymui.

Knyga skirta visiems, norintiems pasinerti į žmogaus genomo analizės peripetijas, suprasti jo tyrimo privalumus bei trūkumus.

Genres: Science, Nonfiction, Genetics, Health, Biology, Medical, Medicine

239 pages, Hardcover

First published May 17, 2016

Reviews

[Kamile · Rating 4 out of 5]

3.5

[Jim · Rating 4 out of 5]

Dr. Lipkin makes several points in this book with some points being made more forcefully than others.
(1) Do not be a genetic fatalist - meaning that genes are important in what happens to all of us but so is some other stuff, like environment and nutrition. We don't yet understand why not everyone with breast cancer genes don't get breast cancer. On the other hand, I didn't hear him argue that not everyone who has a gene for hemophilia doesn't get hemophilia
(2) Eugenics is a "bad" word these days but he does cite the remarkable work of Jewish organizations who aim to wipe out Tay-Sachs disease by appropriate, advanced screening. That work has been remarkably successful at decreasing the number of children born with Tay-Sachs disease so maybe there is some middle of the road approach where we put an end to conceiving children with devastating diseases by advanced knowledge of the genome of the conceiving couple. Further, pharmaceutical companies are reaping handsome rewards for developing therapies for rare diseases. Perhaps a more cost-effective way of attacking those rare diseases is to use modern advanced reproductive techniques (which costs a fraction of therapy costs) to avoid the birth of a child with a rare disease in the first place. Dr. Lipkin, who is Jewish, acknowledges that this concept will have to be vetted pretty seriously before being enacted on a grand scale.
(3) Maybe it's not a bad idea if all of us (or babies who are being born now) be genomically sequenced instead of having heel sticks for certain congenital diseases (e.g., phenylketonuria, etc.) shortly after being born.

He makes these points in his book which is essentially a chapter-by-chapter interesting anecdote of genetic patients that he has treated over the years.

If you want to find out how genetics/genomics is performed, then there isn't enough information in this book to get you there. This book is much closer to an "I had a patient once who...."

That's not intended to be critical or condescending. There's all kinds of interesting stuff to ponder in these stories and this is a changing area. I will acknowledge that he practices in a new and "interesting" field of medicine that wasn't really available to someone who graduated from medical school much earlier than the mid-1990's.

Knowledge is power. Information is information. Maybe all of us should be genome-sequenced and then spend a fair amount of time figuring out how that information should guide us in our daily lives and behavior. Knowing our genetic make-up is not really all that different from the success coaches who encourage us to know ourselves and our personality traits and then make a conscious decision whether or not we want to follow the knee-jerk reaction to a situation that our personality dictates.

[Nancy · Rating 3 out of 5]

This book is a series of chapters that each contain a story about someone with a medical issue. Usually the illness has a genetic basis which Dr. Lipkin uses as a starting point to explain some aspect of genetic medicine.

The best part of the book is that he brings out some of the problems with being able to sequence anyone's genome. So often knowing more about genetic defects just gives a person more things to worry about. Eventually all this knowledge will surely bring better treatments, but for now there are only a few situations where testing makes a difference in how a disease is treated.

[Elentarri · Rating 2 out of 5]

This book is a collection of "tales from the front lines of genetic medicine". The author discusses what is possible and not possible with current genetic technology. He also discusses some of the ethical issues of this technology. This book is set out in a conversational tone describing case studies, with limited science or technical discussion. In short, interesting if you haven't read much on genetics, nothing new if you have.

[Becky · Rating 4 out of 5]

Good accessible resource for understanding impact and application of genomic data.

[Rjj · Rating 2 out of 5]

Definitely aimed at non-scientists. I thought second half of the book where he talks about ethics and applications was more interesting than the first half.

[rowan · Rating 3 out of 5]

ummm i either already knew about what he was gonna say or it was nuanced and i didn’t necessarily agree with his take. but i like genetic medicine so i finished it

[Piper Wilson · Rating 4 out of 5]

Interesting! Slow start, but eventually quite cool and very readable

[Stacey · Rating 5 out of 5]

I am a cancer communicator; it's my job to distill and disseminate complex science. That said, I was gobsmacked by how well the authors covered this topic. They made it easy to understand, totally engaging and a joy to read. Instead of stuffy science, it was personal - through patient stories, and insights into the personality of the good doctor himself. The writing was fantastic as well - so many clever turns of phrase, and a little humor. I actually found myself laughing out loud in some places.

The book covered a wide range of topics touching genetic medicine: the science and history of the technology as well as policy, ethics and individual considerations. There were also plenty of explainers of specific diseases (cancer and beyond). I learned a great deal, and was left with plenty of food for thought. What started as a read for professional purposes ended up a personal pleasure.

The scope will appeal to those well-versed in the field already, but the simple, accessible style will also appeal to the novice. I would definitely recommend to fans of The Emperor of All Maladies and popular science podcasts.

[Katie · Rating 4 out of 5]

Dr. Lipkin is a medical geneticist who writes about some of his cases to raise current issues that arise in the field of genetics. Overall, I enjoyed this book with its mixture of real patients and the ethical and difficult medical concerns that geneticists and their patients face. I appreciated how he talked about some of the unrealistic expectations people have with being able to "read their genes" and he presented some of the pitfalls that can happen when people expect their genetic code to be able to predict their future. He describes having his own genome sequenced and some of the errors and problems that happened from that experience. One issue that bothered me in this book was that there were multiple editing errors: missing or incorrect words that spell check programs might not catch but actually were rather confusing for someone reading his book carefully. I don't know if this book would be entertaining for those not really into the field of genetics, but I liked it and I learned some interesting, new tidbits.

[Jennifer · Rating 5 out of 5]

This book"The Age of Genomes" tales from the front lines of genetic medicine which is a relative new concept is a very interesting read.I found that this world of DNA and what it represents is astounding and fascinating start to what could be both positive and negative in the world compared to the nuclear physics of the last century.
I would like to thank the author and goodreads for this chance to read this book.Its a complex one and would like to re read it again soon.I enjoyed this book and felt that what the authors gave us by bringing together stories of patients and how this can affect the changes in their lives.
again thank you for this opportunity and i would recommend it to anyone who likes medical and mystories of what and who we all are based on our DNA.

[Ian Yarington · Rating 4 out of 5]

My girlfriend is a genealogist so DNA testing and anything that helps to map ancestry is totally fascinating to her. I on the other hand just enjoy the idea of advancing science and having a better understanding of who we are as beings. DNA is probably the biggest most important piece to our human being puzzle. Interesting read, although admittedly, at times it was over my head.

[Michele · Rating 4 out of 5]

I was surprised on how well the author covered this topic. It is easy to understand, engaging and a joy to read. Instead of stuffy science, it was personal - through patient stories, and insights into the personality of the good doctor himself.

[Cyndi · Rating 4 out of 5]

Several interesting and lightly connected essays on the world of genetic research. Lovely to read a book that is very up-to-date (there was even a reference to the late David Bowie). As a snapshot of the science, it's worth reading. In five years, the book won't be as meaningful.

[Jamie Showrank · Rating 5 out of 5]

Well-written, easy to understand and I learned a lot!