Open Reading Frame – The Books That Caught Genetic Counselors’ Attention in 2016

I have never seen a formal study on the topic, but I am pretty sure that many genetic counselors are voracious readers. Despite the daunting task of trying to stay current with the unending torrent of professional articles fire-hosing at us from all directions, we manage to carve out time to read books of our own choosing. There is deep intellectual and emotional satisfaction in immersing yourself in a book that opens up a whole new way of looking at your professional or personal philosophies, values, and opinions.  Well-constructed, beautifully worded sentences sing off the page and you catch yourself saying “Man, I wish I could write a sentence like that.” How did that writer get inside my head, understand me, and open up parts of myself I didn’t know about? It can be a psychotherapeutic experience.

I occasionally use an e-reader and appreciate its practical qualities. But the physical pleasures of holding a book, moving my book mark around, flipping back and forth between pages, studying the front and back covers, the crisp pristine quality of a brand new hardcover, the wrinkled front cover pages falling out old much read paperback that looks like it has been through several wars all touch some pleasure center in my psyche that no doubt would require psychoanalysis to decipher. I try to keep a book in mint condition so that you can’t even tell it has been read. My wife, on the other hand, attacks a book like a terrier going after a rat, bending the spine, folding pages and otherwise beating the life out of it. Despite 30 years of interventions, I have yet to be able to cure her of this disease.

What do genetic counselors like to read? I decided to find out by asking subscribers to the NSGC general forum what book(s) they read in 2016 that made them say “Hey I bet my colleagues would love this book!” I was going to restrict it only to books published this year, but then I thought, why be so limiting? So the list below includes older and new books, along with comments from the genetic counselors who recommended them. This is just in time to buy a gift for yourself or your favorite colleagues for the holidays or just because we sometimes deserve a gift out of the blue. Want to add a personal favorite? Just add it in the Comments section.

The first four books are my personal recommendations.

Life Histories of Genetic Disease by Andrew Hogan. 2016 Johns Hopkins University Press. Andy Hogan, a superb historian of medical genetics who teaches at Creighton University in Nebraska, explores the historical arc of three genetic diseases – Prader-Willi, fragile X, and DiGeorge or CATCH-all DiShprintzen-Velo-22q or whatever you call it these days – and how their definitions continued to evolve with new genetic testing technologies. These stories are told within the framework of the history, ethos, and goals of the field of Medical Genetics. I particularly enjoyed how he delineates the way that the graphic of the ideogram of the g-banded human karyotype continued to influence the way clinicians and researchers think about genetic diseases even after chromosomal studies began playing a less prominent role in genetic diagnosis.  In my view, the chromosonal ideogram is like the pedigree – the other genetics graphic that shapes how our minds think about hereditary diseases.

The Undoing Project: A Friendship That Changed Our Minds by Michael Lewis. 2017. W.W. Norton and Company. You might start to question why I chose this book when you read the first chapter, which is about how the Houston Rockets basketball team assess the talents and potential of their players. But this clever ploy leads quickly to an exploration of the profound insights into human behavioral psychology developed by the work of the psychologists Amos Tversky and Daniel Kahneman. Just as interesting is the intense, complex relationship between the two men. Their work has had a significant influence in many areas, not the least of which is genetic counseling research into decision-making and coping with risk. Michael Lewis, the author of Moneyball and The Big Short, has a knack for storytelling and beautifully explaining complicated topics.

Orphan – The Quest to Save Children With Rare Genetic Disorders by Philip J. Reilly. 2015. Cold Spring Harbor Laboratory Press. Phil Reilly, the author of The Surgical Solution and other genetics related books, gives us an insider’s view of commercial and research labs that are working on treatments and cures for rare genetic diseases, and most importantly, the day-to-day lives of  people and families coping with the diseases. By the end of the book even a curmudgeon like me found myself wondering what it would be like to work in such a lab and come up with a treatment that makes patient makes even a little bit of difference in patients’ lives. See my full review in The American Journal of Medical Genetics – http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37585/full

Blame by Tony Holzman. 2016. Cloud Splitter Press. This novel, by the retired Director for the Genetics and Public Policy Center at Johns Hopkins, examines how a gene therapy trial for Alzheimer’s disease goes terribly awry with the death of an African American woman participating in the trial. The characters are thinly drawn making it confusing to understand their arcs, and the dialogue can be a bit wooden, but they exist mostly to drive the plot. We genetic counselors love to perseverate about the issues that the book raises – complicated workings of IRBs, university politics, conflict of interest, for-profit research, race relations, sexual harassment, poorly interpreted genetic tests, and a HIPAA violation thrown in for good measure.

The following are recommendations gleaned from my informal survey on the NSGC General Forum, along with the submitters’ thoughts on why they chose the particular book.

The Gene – An Intimate History by Siddhartha Mukherjee. 2016. Scribner. Like almost everyone I know, I thoroughly enjoyed Siddhartha Mukherjee’s gem, which made the world of genetics lively, complicated, and very, very human. We all know the stories, but they become page-turners through his story-telling lens, campfire ghost stories beautifully crafted and hauntingly memorable. I went around recounting them in a “he tells it so much better” way for days and days afterward. – submitted by  Karlla W. Brigatti, Clinic for Special Children, Strasburg Pennsylvania

Lab Girl by Hope Jahren. 2016. Alfred A. Knopf. This book is an exceptional memoir of a woman’s experience in establishing herself as a scientist, in this case, botany. Ms. Jahren writes eloquently and with humor about her efforts to fund her lab in various universities and the opposition she encounters all along the way. In addition, chapters alternate with scientific discussions of the life cycle of trees, climate change, research initiatives and problems, and her description of her own eccentricities as well as her unusual co-worker’s idiosyncrasies. Everyone I know who has read it has found it fascinating. – submitted by Judy Widmann, retired Genetic Counselor.

News of The World by Paulette Jiles. 2016. William Morrow. The book has nothing to do with science but it is an extraordinary, beautifully written novel.  I don’t remember underlining a book of fiction since college, but I underlined passages in this one. The story takes place in post-Civil War Texas. An elderly gentleman travels to small towns buying up newspapers from around the world. He then rents a hall and reads the news to the townspeople, each customer paying him a dime to listen. Along the way, he is given charge of a 10 year-old white girl who has lived among the Kiowa Indians, having been abducted by the tribe at age 6 after her family was killed. He is to return her to her aunt and uncle in the south of Texas, a journey of several hundred miles. The relationship between these two characters gives the novel its center and significance. – submitted by Judy Widmann, retired genetic counselor.

Far From The Tree – Parents, Children, and The Search for Identity. by Andrew Solomon. 2012. Simon and Schuster. My nomination for any GC’s must-read list is Far from the Tree by Andrew Solomon. This book had me at the intro:
“There is no such thing as reproduction. When two people decide to have a baby, they engage in an act of production, and the widespread use of the work reproduction for this activity, with its implication that two people are but braiding themselves together is at best a euphemism to comfort prospective parents before they get in over their heads.”

What I truly love about genetic counseling is the opportunity to hear people’s stories. Solomon weaves the true shared experiences – good, bad and ugly – of individuals with children who are different with historical context, insights from philosophy and sociology, and personal insights. It’s not always sweet and it’s not always pretty but it is real.

This may not be the most shocking or surprising choice, given that Dr. Solomon was a keynote speaker at NSGC in 2014, but I feel this choice is not without controversy. There are chapters titled “Down Syndrome” and “Prodigies” nestled alongside “Rape” and “Crime.” There is even a chapter titled “Dwarfs” (yuck). I was gently told that trying to assign this 900+ page book to our genetic counseling students was lunacy. But this is a book that I have read, and re-read, and expect to read throughout my life cycle as a genetic counselor. It informs my soul and my work. – submitted by Christine G. Spaeth, Cincinnati Children’s, Cincinnati, Ohio

Small Great Things by Jodi Picoult. Random House. 2016. I’ve always been a fan of Jodi Picoult. In her most recent book, she helps the reader confront issues that permeate the headlines today – prejudice, race, and how the legal system works. Don’t worry, there’s a few genetics-related twists and turns included too! – submitted by Alyson Krokosky, Walter Reed National Military Medical Center, Bethesda, Maryland

Are We Smart Enough To Know How Smart Animals Are?  by Frans de Waal. W. Norton & Company. 2016. Frans de Waal, a leading primatologist, explains how social, smart and altruistic animals are if we only design the correct social experiments to bring out their behavior. I first became interested in Dr. de Waal’s work because he wrote about his observations of a captive Rhesus monkey with Trisomy 18 born in 1988. This monkey was born to a 22 year old G12P11 mother, elderly for this species, where menopause typically occurs at around age 20-25. The mother did not reject her. She was not kicked out of the troop or savagely beaten. Her older sisters helped her forage for food on the ground, until she was euthanized at age 32 months due to intractable seizures. – submitted by Laila Rhee, UC Davis Health System, Department of OB/GYN, Sacramento, California

A Cancer In The Family by Theodora Ross, MD, PhD. 2016. Avery. How do you talk to relatives about family history, especially if they have been reluctant to share in the past? This book gives great how-to’s. The author also praises and recommends working with GC’s. Interestingly the advice she gives about talking to relatives is very similar to what I’m learning from the genealogy community. Genealogists use techniques like those in this book to elicit family stories, starting with oldest relatives first. Since more and more of my patients tell me about their molecular genealogy results, I find this a fascinating tie-in to our profession. – submitted by Kate Crow, MS, CGC, Hereditary Cancer Service, Southern Colorado Centura, Colorado Springs, Colorado

Life, Animated: A Story of Sidekicks, Heroes, and Autism by Ron Suskind. 2014. Kingswell. I really enjoyed the story about how the Suskind family found that Disney movies were being used by their son with autism as a model for how to interact in the real world. submitted by Susan L. Sell, Hershey Medical Center, Department of Pediatrics, Division of Genetics, Hershey, Pennsylvania

Mapping Fate : A Memoir of Family, Risk, and Genetic Research by Nancy Wexler.1996. Univerity of California Press. I’m a little bit late to the game, but I finally read [this book] this year and really enjoyed it.  Alice Wexler tells the story of a thrilling chase to find the Huntington disease gene, which once discovered, would allow for predictive genetic testing of unaffected individuals (unleashing an entire field of gene ethics). She unveils the eventual breakthrough discovery of the gene as the culmination of daring bets and novel scientific approaches. Now, more than 10 years since the Human Genome Project’s completion, with genetic services extending to every rare disease, it is breathtaking to realize how little we knew in 1979, and how far we’ve come today.

As a genetic counselor, I am most moved by Wexler’s deeply personal account of her connection to – and identity in – the Huntington disease world. She allows the reader to experience all the unfinished edges in her story – her contentious relationship with her father, who has a personal and scientific investment in Huntington research; her frustrations with her passive, 1950s-housewife mother; her personal struggle with relationships and infertility in the context of being at-risk. I appreciate that she did not “hero-ify” every character in her memoir, as some do when eulogizing. – submitted by Weiyi Mu, Johns Hopkins University, Institute of Genetic Medicine, Baltimore, MD

Beggars In Spain by Nancy Kress. 1993. William Morrow and Company. Written in 1993, [this book] is surprisingly relevant in the age of CRISPR/Cas9 which has led us to dust off old hopes of treating genetic disease at the source and old fears of taking gene editing too far. The book is based on a society where genetic modifications is available for those who can afford it. A group of children, called Sleepless, do not require sleep to survive. Sleeplessness is associated with other traits such as improved survival and intelligence. Divisions between the sleepless and the sleepers lead to societal divides and touches on the moral questions of what an individual owes to society, what we owe to each other, and what parents owe to their children. – submitted by Rebecca Tryon, Pediatric Blood & Marrow Transplant, Minneapolis

Evicted: Poverty and Profit in the American City by Matthew Desmond. 2016. Crown. I cannot recommend [this book]  highly enough and feel should be required reading for every American citizen who has known nothing but stable housing during their own lifetimes. Equal parts compelling, eye-opening, and heartbreaking, this book illuminates the daily lives of those who struggle to exist within urban poverty at a level that is likely unimaginable to most genetic counselors. What does housing and eviction have to do with genetics you might ask? After more than a decade and a half practicing as a pediatric genetic counselor, I could not even begin to count of the number of no-shows or last-minute cancellations that were disproportionately for children with government healthcare insurance. Although it is just one small storyline in a book of great depth and complexity, an incident is recounted in which a single mother living in poverty and the chaos of eviction with her two sons has to make a decision about getting treatment when one of the boys has an asthma attack. This book depicts with great humanity how complicated and overwhelming even seemingly simple decisions can become when one feels helpless and without hope as the earth seems to be constantly shifting beneath one’s feet. This book offers a powerful and disturbing insight into a plight that is under the national radar, and for me, the insight relevant to children and healthcare was a striking additional nuance. Perhaps “happy reading!” would not be the right sentiment, but I cannot think of a book that is more worthy of reading. – submitted by Stefanie Dugan, Blood Center of Wisconsin, Milwaukee