Genetic Rounds: A Doctor's Encounters in the Field that Revolutionized Medicine

by Robert Marion

Renowned pediatrician and author Dr. Robert Marion, whose bestselling book The Intern Blues is revered by doctors of all ages, offers a powerful and moving account of his experiences in modern genetics. His gripping stories illuminate a cutting-edge field of impossible moral complexities and incredible scientific breakthroughs that draw him deep into the lives of his patients and their families when they need him the most. Genetics is a specialty of secrets. After thirty years as a pediatric geneticist in New York City, Dr. Robert Marion knows things about his patients that their friends, their families, and even they themselves do not. Having access to this kind of inside information is at once a terrific honor and a terrible burden. It requires Dr. Marion to play detective, philosopher, physician, and friend, sometimes all over the course of a single visit. In Genetic Rounds , he tells the surprising true stories of daily life as a clinical geneticist. From the girl whose bones break at the lightest touch to the boy who is unable to sweat, Dr. Marion imparts the life-long lessons he has learned from his most incredible cases. He walks us through perplexing medical puzzles that have sharpened his wit and transformed him into a Sherlock Holmes in his field. He shares ingenious practical insights that have changed his patients’ lives. And he delves into the moral quandaries through which his patients in turn have changed his Should he wait until after Christmas to break bad news to a frightened family? Should he tell a close friend that his daughter may have a life-threatening, previously undiagnosed disease? And, most importantly, how can he persevere in a specialty that deals with so much heartbreak? The first book of its kind, Genetic Rounds is the story of a remarkable doctor in a field unlike any other. With unforgettable candor and compassion, Dr. Marion not only explores the human side of he shows what medicine can teach us about being human. “ Genetic Rounds is part medical detective story, part scientific tour de force, and part highly personal and emotional story of a doctor and the children and families who have shaped his career and his life in this fascinating field.” — Perri Klass, MD, author of Treatment Kind and Letters to a Young Doctor From Genetic Rounds “I’ve learned that in medicine, virtually anything is possible, that no matter how difficult or unlikely a situation might be, with hard work, perseverance, persistence, and the ability to work with people who are brilliant and creative, miracles can happen.” Praise for The Intern Blues   “A candid . . . gripping account.” — The New York Times Book Review “A thought-provoking study of real human beings.”  — Booklist “An important book for anyone contemplating the long, arduous task of becoming a doctor.” — Library Journal Praise for Learning to Play God “Clear, immediate and moving . . . provides as good a feel for the texture of medical training as any I've read.” — The New York Times Book Review

Genres: Medical, Nonfiction, Medicine, Memoir, Science, Genetics

304 pages, Hardcover

First published October 1, 2009

Reviews

[Shane Evans · Rating 5 out of 5]

This book is great but not for the faint of heart. Luckily, I only read a chapter a day. Some of the stories are so heartbreaking, it takes time to process it all. The science is great, but the humanity is amazing. There are some remarkable folks out there and people who are facing troubles and struggles that dwarf anything I have ever encountered. Grit is a mysterious quality.

[Katie · Rating 5 out of 5]

I loved this book. It was a quick read that brought me right back to my masters degree in Genetic Counseling. In fact, some of the stories were quite familiar since they were gathered from older essays that I must have read or heard about. Several of the chapters made me put down the book and cry for those kids and families who struggled with terrible health issues, but overall the book was uplifting. I would definitely recommend this book to anyone considering going into genetic counseling or other clinical genetic feilds.

[Allyson Brown · Rating 4 out of 5]

An interesting insight into the life of a clinical geneticist. Filled with all of the emotion and heartfelt stories of the families whose mysteries fill the pages.

[Mallika Makkar · Rating 4 out of 5]

Quick and easy, yet highly illuminating read. Only note: author does a good job of explaining some medical/scientific concepts, yet does not go into much detail about others. This may create some confusion for readers who may be outside of the field, but given that the focus is more on the "human side" of disease, it shouldn't cause too much trouble. Otherwise, really enjoyed the book!

[Alyssa · Rating 5 out of 5]

One of my favorite medical reads.

[Raquel Liberow · Rating 5 out of 5]

Fabulous. I was recommended this by my professor and it did not disappoint. Emotionally pungent without being flowery. Real life situations written accessibly. Loved.

[Caroline · Rating 5 out of 5]

Incredible!

[Mazola1 · Rating 3 out of 5]

Robert Marion has a job that most people would find a tad depressing. Dr. Marion is a pediatric geneticist. Like pediatric oncologists, Dr. Marion sees lots of very, very sick children. While it's true that in the 30 years since Dr. Marion began to practice his sprecialty, there has been an information boom in genetics, in most cases, there's still no effective treatment for genetic disorders and diseases. Perhaps that's why Dr. Marion writes that "the experience of working in this field for all these years has afected me, changed me, made me less idealistic and more jaded."

In Genetic Rounds, Dr. Marion tells the stories of some of his most memorable cases. Most involve children with rare, deadly and devastating genetic abnormalities. Many of these diseases are truly horrifying, such as Sanfilippo syndrome in which a genetic defect causes an inability to break down chemicals in the blood, resulting in a buildup of these chemicals in the bloodstream, and the organs of the body, including the brain. The end result is a deterioration of neurologic functioning and an early death.

Another disease caused by a defect in a single enzyme causes a buildup of toxic substances in the bloodstream, resulting in neurologic and other problems, including extreme sensitivity to light, blistering and scarring of the skin and patchy areas of hair loss and indiscriminate areas of hair growth on the skin. Sufferers of this disease may account for the origin of vampire and werewolf legends. The end result is extreme social isolation and usually an early death due to severe anemia. Not only do these diseases kill their child victims, but they impose a sad and heavy burden on their grief stricken parents. Sadder yet, although genetics can confirm the disease, there is as yet no effective treatment.

Most of the disorders that afflicted Dr. Marion's patients are caused by a single mutation in a single gene. Reading Dr. Marion's stories of what causes these disorders, their often relentless progression, and the sorrow and sadness they inflict on those who have them and their families gives one a sense of how thin the line between "normal" and "abnormal" truly is. In that sense, knowing what can and sometimes does go wrong, sheds light on the wonder of what happens when things go right. The great hope offered by genetics is that someday knowing all the changes in the genetic code that predispose people to diseases will allow medicine to prevent those diseases.

[Sandra · Rating 3 out of 5]

Lots of interesting short stories about rare and interesting genetic case studies. He made this very easy for the layperson to understand. As I read his chapter on acute intermittant porphyria, I understood what he meant by dumb luck. We don't see this much at all in the USA, but I happened to remember studying about this in my hematology class, many years before I even decided to become a pharmacist. This lady comes into the pharmacy, with what I thought might be a blood disorder from her symptoms. Out of my mouth pops maybe you have a congenital disorder such as AIP.. Her mouth just dropped open, and unfortunately for me, she thought I was an expert in the area, since that is what she had. It turns out it is very difficult to find a doctor that deals with this condition. Then she comes in with a book of drugs that sufferers can't take together, otherwise it starts an attack. The problem was that the books contradicted each other, and so she was basically asking me what drugs would not start her disease going to keep her out of the hospital. I now know a lot more about AIP, as I read more about it, but at the time I really didn't know anything about it.

[Martin · Rating 4 out of 5]

This book is both fascinating and terrifying. Fascinating because 1) a "House" with an excellent bedside manner is a wonderful find. 2) His humanness is on clear display, showcasing his foibles as well as his successes (however, the book does have a touch of TMI) 3) The diagnostic process is a thing of wonder 4) It, like action movies, makes the reader think he can now walk around diagnosing people. 5) The field is just getting warmed up! Terrifying because 1) The book deals with literal death sentences. 2) The author doesn't accurately convey how rare these diseases are, putting a bit of a fright into an untrained reader. Overall, I'm pleased to have found an alternate to Atul Gawande, whose books I've exhausted, and I needed something good in the interim while I wait for his next book. This was excellent. I'll proceed to the rest of Marion's books and continue seeking more in the field of medicine.

[E · Rating 4 out of 5]

I really enjoyed reading it as its very accessibly written with a relatable human voice. It's for the layperson, though as a genetics professional I also thoroughly enjoyed it and could empathize with his feelings in the tough decision making and conflict.

Although it's about a clinical geneticist, many of the stories could have been written by a genetic counsellor. It's a great book for others to read and learn more about what it's like for the profession; I think next time someone wants to know what I do I will recommend it as a way to find out.

I really liked the postscript sections, as I felt they added more information and helped wrap up the essay. He covered a variety of conditions, though all fairly similar in how they may affect a family, the reactions the families were not the same and therein lies what makes interacting with the families in genetics so constantly interesting.

[Jane · Rating 4 out of 5]

Robert Marion is the author of a number of excellent medical memoirs but has not published any books since the 1990s. Genetic Rounds, a collection of case histories from his experience as a clinical geneticist, is (almost) worth the wait. Some essays focus on the medical mystery aspect of his cases, while others are predominantly about ethical dilemmas or personal reflections. Overall, this is a very good book, but some of the cases will be familiar to readers of the Vital Signs column in Discover.

[Becca · Rating 3 out of 5]

This is a very well-written book, but since I share the same job as Dr. Marion, it really just felt like a slice of my life. The cases designed to highlight extraordinary, rare diseases are very much part of my daily life. I was hoping for a little more insight into how our job shapes our lives and reflections regarding taking care of a population of patients that is almost entirely children with disabilities.

[Eva · Rating 3 out of 5]

A bit cheezily told given what important work this doctor does, helping families that have children with congenital diseases. I also thought he didn't do a good enough job giving more info about the field of genetics and its role in medicine, which I found disappointing, but probably the author's decision to leave all this stuff out was why I finished the book in 2 days.

[Tamarah · Rating 3 out of 5]

Short stories about patients with various genetic illnesses. Very compassionately written, reminds me of Oliver Sacks, but much briefer and far less depth. Nice, easy read, but somewhat dated. I kept wondering how much of what he said is still correct (there are some postscipts noting that things have changed since the article was written).
3.5 stars

[Jocelyn · Rating 3 out of 5]

Dr. Marion, a pediatric geneticist, shares a few of his experiences in working with very sick children. It's an interesting read in seeing how he deals with difficult ethical dilemmas while discussing the cause behind the genetic disorders.

[Jenna · Rating 4 out of 5]

Really interesting! I learned about a whole bunch of things I didnt even know existed. Nice to see Marfan's syndrome in here, since Ive recently seen people with it. Anyway, really cool. Although, I was a little disappointed to see no reference to EDS!

[Chaya · Rating 4 out of 5]

A few proofreading errors and not always the most eloquent of writing, but still an educational, interesting, and heartwarming book, especially for someone who, like me, is going into the field of genetics.

[Elizabeth Nesbit-comer · Rating 4 out of 5]

A pretty interesting read into genetics and how the field has come a long way in the last 25 years. The children's cases are heart wrentching and inspiring.

This is a great read for fans of medical mysteries :)

[Etomby Namme · Rating 4 out of 5]

An excellent insight in the life of practising medic, shared through his experiences over the years that took him from graduate medic to genetic consultant. An easy read with plenty of inspiring anecdotes.

[Erica · Rating 4 out of 5]

read this one for freelance purposes a few months ago. interesting and informative without being lurid.

[Debbie · Rating 4 out of 5]

interesting look into the field of pediatric genetics. Not always a pretty picture...

[Jill · Rating 5 out of 5]

What a great book. Would really recommend it, fascinating insights into genetics, families, children, dr's and medical approaches in general

[Sheila · Rating 3 out of 5]

Give it a 3.5, interesting short stories of peds patients/families by Dr. who's a pediatric geneticist.

[Melissa · Rating 4 out of 5]

Fascinating look at some gentic diseases.

[Joe · Rating 4 out of 5]

A set of really poignant essays, including the story of Dr. Marion's experience with two patients whose story we've all heard about.
Extremely well written and edited.

[Ghalia · Rating 3 out of 5]

Although I did not complete the book yet, I can tell that this was a great book. It contained a lot of inspiring stories about strange cases in genetics. I recommend it to any medical student

[Flicka · Rating 5 out of 5]

I enjoyed this book greatly. It really opened my eyes to the "humanity" doctors experience in their practice. The information about genetic abnormalities was very interesting and informative.