O Fim da Genética: Concebendo o ADN da Humanidade

by David B. Goldstein

A genética humana tal como a conhecemos chegará ao fim em breve. Quem o afirma é o geneticista David B. Goldstein, que acredita que, em pouco tempo, serão os pais a decidir, de forma crescente, a composição genética dos seus filhos.

Conhecendo a probabilidade de uma futura criança ser portadora de uma mutação genética indesejada, que poderá significar uma vida marcada por uma deficiência ou incapacidade que acarretará custos médicos elevados e um grande investimento emocional e de tempo por parte da família, é provável que cada vez mais pais queiram determinar a concepção do ADN dos filhos. Contudo, à medida que isso avançar em larga escala, quais as consequências da intervenção humana na concepção do genoma das futuras gerações?

Caberá a todos nós decidir como será este novo tipo de genética. Goldstein dá-nos as ferramentas para podermos participar neste debate de forma esclarecida.

Genres: Nonfiction, Science, Genetics, Biology, Medicine

168 pages, Paperback

First published January 4, 2022

About the author

David B. Goldstein is John E. Borne Professor of Genetics and Development and director of the Institute for Genomic Medicine at Columbia University Medical Center. He is the author Jacob’s Legacy: A Genetic View of Jewish History.

Reviews

[Mansoor · Rating 3 out of 5]

"گروه‌های جمعیتی زمانی در معرض بیشترین خطر هستند که تنوع ژنتیکی کمی داشته باشند"


"ما 288 ژن بیماری‌زای موجود در کروموزم اکس را شناسایی کرده‌ایم. از آنجا که مردان فقط یک کروموزم اکس دارند و زنان دوتا، بیشترین مبتلایان به بیماری‌های مربوط به کروموزم اکس مردانی هستند که چنین جهشی را از مادرانشان به ارث برده‌اند. یکی از قدیمی‌ترین اشارات به این الگوی وراثتی در تلمود یافتنی است. تلمود در شرایطی برای رسم ختنه استثنا قایل شده و آن وقتی است که در طرف مادری خانواده، ولی نه طرف پدری، بچه‌ها بعد از ختنه دچار خونریزی شدید شده باشند. حاخام‌های یهودی بیماری‌ای را تشخیص داده بودند که ما امروز آن را هموفیلی می‌نامیم"

"ما نمی‌دانیم مهندسی ژنوم چه تاثیری بر پیوند میان والدین و فرزندان خواهد داشت. آیا واقعا می‌دانیم پیوندهای گسترده‌ای که والدین و فرزندان میان همدیگر حس می‌کنند تا چه حد از احساس یک هویت مشترک اثر می‌گیرد و دستکاری ژنوم فرزندان چطور تمام این‌ها را متاثر خواهد کرد؟"

"عبارت اوژنیک (به‌نژادی) دلالت‌های تاریخی مربوط به برتری آریایی‌ها را تداعی می‌کند و ایده‌ی عقیم‌سازی برخی از گروه‌ها و دهشت ناشی از آن را به یاد می‌آورد. اوژنیک با نظریه‌های برتری ژنتیکیِ بعضی از گروه‌های نژادی یا قومیتی بر دیگران همپوشانی دارد؛ نظریه‌هایی که من آنها را از نظر علمی واهی می‌دانم. گرچه این واقعیتی است که گروه‌های مختلف قومیتی در آزمون‌های سنجش هوش و توانایی ذهنی میانگینِ عملکرد متفاوتی دارند. همین‌طور در دیگر مصادیق دستاوردهای ذهنی کارنامه‌ای متفاوت از هم دارند، مثلا این‌که چه‌کسی از استکهلم سر درمی‌آورد تا غبطه‌انگیزترین جایزه‌ی علمی دنیا را از آن خود کند. از میان بیش از نهصد نفری که تاکنون جایزه‌ی نوبل برده‌اند، حول‌وحوش بیست درصدشان تبار یهودی یا دست‌کم یک رگه‌ی یهودی دارند"
.....


Why inbreeding increases the risk of recessive genetic diseases

"Some parts of the world have substantial amounts of inbreeding, in which parents who are third-degree relatives or closer [!] have children, and such pairings of relatives greatly elevate the rate of recessive disease [these diseases are a result of mutations in genes that generally can tolerate a single mutation in one of the two alleles without causing serious problems. But two mutant alleles mean that the individual will express the disease]. The reason is obvious. In unrelated individuals, the genes in which the parents carry single-copy disease-causing mutations are usually different. In related individuals, these genes are much more likely to be in the same genes (because the same mutation has been inherited from a recent ancestor they have in common)."

[Rigel · Rating 4 out of 5]

I was worried this would be a very biased, fear-mongering presentation of modern genomics, but I was pleasantly surprised. Goldstein offers a comprehensive introduction to the field of genetics and ethical questions surrounding it. Just be warned, if you're not familiar with scientific language, Goldstein does use an awful lot of it. Although he does define each word/concept he then starts using it extensively. If I weren't educated in science and genetics myself I'm sure I would have felt lost.
Also another warning, you must take all non-fiction science books with a grain of salt and do your own research on the subject before forming your own opinion. These books don't tend to be peer reviewed and therefore might present biased or manipulated data. Goldstein doesn't seem to be one of the scientists that does this kind of thing as he clearly marks when what he's written is his opinion and presents cold hard facts. All I'm saying is just be aware.

[Nisha Joshi (swamped, will review whenever possible) · Rating 5 out of 5]

It has been possible since 2010 to know the genetic makeup of humans. But there are many traits, many of which are not even known. Will the future generations make use of genetic engineering to remove unwanted traits? Is it even possible? And what will the outcome be, if parents get to decide what traits their children should or should not have?

I absolutely loved this book. If I worried that the book will be filled with possible fear-mongering, I needn't have worried. The author is a scientist who has put in several years of his life studying genomes and patterns and says what the status is without beating around the bush. He is practical and explains each point in a rational manner.

I might have skimmed over portions of the book if I had read it. But I listened to the audiobook and the narrator, Christopher Douyard took me through the book easily.

5 stars.

[Ricardo Moreno Mauro · Rating 4 out of 5]

Un muy buen libro. Lo bueno que tienen es que hay partes para no expertos, que son explicadas en forma didáctica y entretenida. Tambien tiene partes un poco más complejas, que para mi caso como se más, también me pareceieron muy buenas.

Si queiren aprender de como la genética está modificando nuestro mundo. No se los pierda.

[WiseB · Rating 5 out of 5]

Upon finish reading this book, my impression is the author has lay out the content progressively on the history and relevant knowledge of human genetics including the various researches, lab & clinical applications and technologies, so as to deduce his rationale of how the genomes of future children can and will be engineered base on "Reproductive Genomic Design". The four design components per his analysis include:

(1) What are we targeting? ... Disease causing mutations, which include Recessive Genetic Diseases and Dominant Diseases.

(2) What can we do today? ... If "expanded carrier" testing is performed on the parents' genomes before conception, then any same recessive disease genes from the couple can be discovered. With in vitro fertilization (IVF) along with pre-implantation genetic testing (PGT), screening can be performed to prevent using pre-embryo with missing or duplicated chromosomes; or diagnostic on pre-embryo selected to ensure the identified pair of disease (discovered in expanded carrier testing) causing mutations does not exist. Nevertheless, the limited number of pre-embryo is the constraint for the IVF process.

(3) What we will be able to do tomorrow? ... Using induced pluripotent stem cells (IPCS) technology, gamete (embryonic stem cell) can be generated from one's stem cell, which then edited using CRISPR-Cas technology to match a desired genome sequence. This will become the heritable human genome editing practice. On top of this, using IVF with PGT will then protect humans born with many of the disease causing mutations.

(4) What should we do? ... Prior to reaching extensive reproductive genomic design with subsequent fine tune and mature of the related technologies, human should know what we should and should not do with such power, especially the consideration of the unknown of the consequences of the redesign if other than eliminating known disease variants, one also decided to make replacement of rare variants with common ones in the genome.

The reflection after finish reading the book aware of these possibilities for future human generations, it makes one wonder by such time there will be even more class divide in human societies as very likely only the privileged class can afford for the cost of such genomic redesign which definitely enable them to live a better and longer life compared to the rest.

[Lady · Rating 4 out of 5]

This was a brilliant book. I became so engrossed in this book it was over before I even knew it. I really loved reading and learning about science and this book fascinated me, the facts were amazing. I listened to the audiobook and was instantly drawn into this book because of the narrator's smooth voice. It was a fascinating look at how genetics are used to study and find answers for the rares of conditions. It was fascinating to learn That some of these very rare conditions were rather easy to treat and how others still baffle geneticist even today. Also just how many people are having their genetics looked at before trying for a baby and how working is progressing to try and minimise risks of certain conditions from appearing and to what stage do we say this has to stop it immoral. There are lots of aspects of genetics looked at and creat some very interesting controversial issues. I just listened in wonder and learnt so much. It was such an eye opener. I absolutely love listening to audiobooks like this one on subjects im not overly familiar with. This was a perfect insight into this world of genetics.
Thank you so much to the author and publishers for bringing the fascinating audiobook to life as its such An difficult issue to understand and this book made it so easy to understand and learn from. I will definitely be looking out for more titles by this wonderful author in the future.

[Valerie · Rating 4 out of 5]

(Non fiction book 9 of the year.)

This book explained the progress and potential future of out understanding human genetics and the possibility in selecting or manipulating that in a clear manner while addressing the possible dangers this might pose.

That being said, my main takeaway was that I would love to read a book from a different perspective. One of the main focuses of the book is on mendelian diseases, meaning that the gene error is known and expressed based on simple dominant or recessive characteristics. Many of these diseases can have devastating consequences and we are increasingly able to test for them in embryos before implanting them during IVF treatments.

This means that, we could prevent our children from having these diseases. But this isn’t a cure by any means, it is eliminating these children from being born in the first place. And for some of these diseases it is arguably seen as a logical action.

At the same time (and not to question any parent making this complex decision), what is the right aim. Do we need humans to all be the strongest, the healthiest, to live the longest? Or is their value in different lives beyond that. Because ultimately, with all of these actions, we are not curing people of disease, we are preventing them from existing in the first place.

Anyway, I think a book tacking the ethical quandary of that would be interesting.

[Sandra · Rating 4 out of 5]

O que acontecerá quando a tecnologia permitir editar o genoma das crianças? Uma das boas consequências, pelo menos na teoria, seria erradicar doenças terríveis. Outras péssimas consequências seriam colocar em prática as ideias racistas e eugenistas da raça superior. O objectivo do autor, que é cientista, é explicar como funciona a medicina de precisão, concluindo que há ainda muitos pontos cegos, não sendo possível controlar possíveis consequências da própria edição genética. De qualquer forma, dado que assim que a tecnologia o permitir, vai haver experiências, e em seres humanos. O melhor é informar os cidadãos e reflectir sobre essa grande experiência colectiva que, pelo que sabemos do passado, pode correr muito mal.

[Adger Williams · Rating 5 out of 5]

Excellent popular-science level treatment of the ethics associated with the revolutionary advances in genomics.
The human race now knows how to change the genes of our offspring. We don't know what all of the consequences will be. We do know that someone(s) will make genetic changes they feel are justified in the hopes of making things better for their children. We don't know enough to be sure what all of those changes will lead to.

Not too much biography (often the bane of science books not written for scientists); persevere through the first chapter or two and you will be richly rewarded.

[Kate · Rating 5 out of 5]

This book was a very informative read on both the history and current trajectory of the field of genetics. The author brought up valid concerns and benefits of the expanding field and how it will affect life and procreation in the future. While he shares many of his own opinions, he acknowledges them as such, and the book is very well researched. It is also nice and concise, yet the author doesn't oversimplify, so it is a great read for both the more seasoned researcher in genetics and those newer to the field.

[Britt · Rating 4 out of 5]

Suuuuuper interesting and pretty easy to follow given the complexity of the material. The author is very realistic and humble and yeah…I really enjoyed it! Recommended to folks interested in genomics and/or their ethical implications. My takeaway was basically that we’re headed to a similar place as to GMOs - employing these new technologies without proper understanding of their effects. 4 stars.

[OjoAusana · Rating 4 out of 5]

*received for free from netgalley for honest review* worth the read, it was pretty interesting and had lots of good points and information

[Deedee]

Dewey 610.9