Genetic Rounds by Dr. Robert Marion

Genetic Rounds by Dr. Robert Marion

by Dr. Hsien-Hsien Lei
Posted August 17, 2009 in Books About DNA

SNP this, GWAS that. The news abounds with new genes for cancer, autism, and even sleep while genetic technology races ahead towards the $1000 genome sequence (currently down to $50,000).

genetic rounds robert marion Before it was possible to study the genetics of complex diseases on a genome-wide scale, most talk of genetic diseases looked at those caused by single gene mutations or chromosomal abnormalities. Taking a step back to what might appear to be simpler times, medical geneticist Dr. Robert Marion’s new book, Genetic Rounds, is due out in October.

But even if the genetic basis of diseases such as mucopolysaccharidoses, trisomy 13, acute intermittent porphyria, and spinal muscular atrophy might have been easier to elucidate, that doesn’t mean diagnosing or treating the patients is any easier. In Genetic Rounds, Dr. Marion explains the causes and symptoms of various genetic diseases in clear, easy-to-understand language (as is his forte – see Was George Washington Really the Father of Our Country?: A Clinical Geneticist Looks at World History).

As has been the case for its entire history, most of the practice of medical genetics comes down to the clinician sitting in the clinic with the family, listening to the history, performing the physical exam, and trying to put the pieces of the puzzle together.

Even more enlightening, Dr. Marion reflects on his encounters with the children affected by these devastating illnesses and their families who must cope with the stress involved in taking care of them. I was especially touched by his holistic and empathetic approach as a physician. Any of us who’ve been fortunate enough to have had a doctor who cared about us beyond our acute symptoms and the few minutes in their clinic knows what a rare gift that is.

Many of the essays included in the book were previously published in Discover magazine and The American Journal of Medical Genetics among others. Dr. Marion updates a number of them with news on how the patient and family are doing as well as how his views and feelings changed over the years. Although a couple of essays seem a little out of place in a book about genetic diseases, I still found them all very enjoyable. Genetic Rounds is a must-read for anyone with a connection to genetics and would be an intriguing read for anyone with a passing interest as well.

This week, I will be posting a multi-part interview with Dr. Robert Marion. He is as nice via email as he seems in the book. If you’ve ever had a chance to meet him, please share your story in the comments!



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Comment by Trish

When I was a genetic counseling student, I completed one of my clinical rotations in Bob Marion’s clinic at Montefiore. I remember doing rounds with him and was touched by the time he spent with each family. I recall one mother rocking her sleeping baby who was in the hospital for reasons I can’t remember, but was being worked up to confirm a suspected diagnosis of cystic fibrosis. There was a group of us trailing Dr. Marion that day, a mix of residents, medical students and genetic counseling students. We listened as Dr. Marion spoke to the mother in hushed whispers, asking about how her son seemed to her that day, how her family at home was faring while she spent every moment she could at the hospital with her son. The mother seemed very optimistic and thought her son seemed to be getting better. After we left the bedside and walked down the hall, Dr. Marion briefed us on the child’s history started asking us questions about the patient. There were lots of questions and suggestions about working up cystic fibrosis, and ideas about what some of the little boys test results meant. Dr. Marion stopped us cold- “No- the patient that I am talking about that needs taking care of here is the mother”. Dr. Marion has always had an uncanny way of connecting to his patients-and their families. I recommend his book “The Boy Who Felt No Pain,” one of his first books that reiterates this same theme and demonstates his compassion for his patients while providing a unique view into what it is like to live with an inherited syndrome. I can’t wait to read his new one!


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