Dr. Robert Marion on Physician Knowledge of Genetics

by Dr. Hsien-Hsien Lei
Posted August 27, 2009 in Books About DNA, Personalities with DNA

In the last part of my interview with clinical geneticist and author Dr. Robert Marion, he touches on the inadequate way in which medical schools teach genetics (a topic near and dear to Dr. Steve Murphy’s heart).

How do you expect the genome revolution to change the way you practice medicine?

The genome revolution will lead to a second revolution, this one in medicine.  Rather than being a field in which physicians wait for symptoms and signs to develop, allowing us to react and treat them, we will know, through newborn or prenatal screening, which mutations and polymorphisms are present, giving us information about the likelihood of the development of disease later in life.  And rather than being reactive, medicine will become predictive, with physicians focusing on ways of manipulating the environment in order to prevent those alterations in the genes from manifesting diseases. 

Unfortunately, the lesson of the genome revolution has not yet broken through to medical school education committees.  The traditional way in which physicians are trained will soon become outmoded; we geneticists need to begin to lobby to change the curricula of medical schools now, so that the physicians who care for us tomorrow will have the necessary knowledge to be able to approach this brave new world of medicine.

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For more about genetics in medical education, see:

The dawning era of personalized medicine exposes a gap in medical education by Keyan Salari at Speaking of Medicine, a PLoS Medicine Community Blog

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The full round-up of posts on Dr. Robert Marion and his new book, Genetic Rounds:

• Genetic Rounds by Dr. Robert Marion
• Medical Geneticist Dr. Robert Marion on Writing
• Dr. Robert Marion on Preimplantation Genetic Diagnosis
• Dr. Robert Marion on Complex Genetic Diseases
• Dr. Robert Marion on Direct-to-Consumer Genetic Testing

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Dr. Robert Marion on Direct-to-Consumer Genetic Testing

by Dr. Hsien-Hsien Lei
Posted August 26, 2009 in Books About DNA, DNA Testing, Personalities with DNA

My interview with clinical geneticist and author Dr. Robert Marion continues today with his thoughts on direct-to-consumer genetic tests and genome scans.

In the past couple of years, genetic testing companies like 23andMe have begun offering genome scans to the general public. Have you purchased direct-to-consumer genetic tests such as these? Would you recommend it to anyone even for purely recreational reasons? Why or why not?

The age of personal health through genetic testing is clearly upon us, and this is definitely a good thing.  However, genetic information is a powerful tool, and it must be used carefully.  In the past, experiences with presymptomatic testing for Huntington disease and BRCA 1 and BRCA2 mutations have made all of us aware of the potential problems related to providing genetic testing without supplying adequate pre- and post-test genetic counseling.

And this is the heart of the problem with direct-to-consumer genetic testing; without careful explanation, without accompanying genetic counseling to explain their meaning, the results are not only meaningless, they can actually be harmful. 

Traditionally, this has always been a problem with genetic testing: the technology, our ability to perform the testing, has always run way ahead of our ability to deal with the consequences of that testing, educationally, morally and ethically.  If a test is performed, who should have access to the results?  Should employers be allowed to see them?  Should health and life insurance carriers? And who should pay for these tests?  If insurance companies cover the cost, shouldn’t they be allowed to see the results (and make decisions about coverage based on those results)?

Mercifully, the passage of GINA (The Genetic Information Non-Discrimination Act of 2008) has prevented the latter from occurring, but all of this needs to be worked out and rules put in place before testing is provided, not after.

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For those of you who have purchased a direct-to-consumer genetic test, PhD candidate Sudeepa Abeysinghe at Australian National University is recruiting research participants. She says:

My research is being conducted completely independently of any testing company.  It focuses upon the consumer experience, and I do not ask any potentially sensitive questions about specific genetic results. 

The survey can be found on the (secure) Australian National University website at this address:  https://apollo.anu.edu.au/default.asp?pid=3937

Please help out if you can!

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For more on Dr. Robert Marion and his new book, Genetic Rounds:

• Genetic Rounds by Dr. Robert Marion
• Medical Geneticist Dr. Robert Marion on Writing
• Dr. Robert Marion on Preimplantation Genetic Diagnosis
• Dr. Robert Marion on Complex Genetic Diseases

(>> Start a discussion!)

Dr. Robert Marion on Complex Genetic Diseases

by Dr. Hsien-Hsien Lei
Posted August 25, 2009 in Books About DNA, Personalities with DNA

Part 3 of my interview with clinical geneticist and author Dr. Robert Marion. His latest book, Genetic Rounds, will be published in October. (See part 1 and part 2 of the interview.)

In Genetic Rounds, the patients you focus on have devastating diseases caused by mutations in single genes. What is your perspective on genetic medicine as it applies to complex diseases and traits caused by a multitude of gene variants?

Dr. Marion: As time passes, it becomes more and more clear that everything is genetic (or at least has a genetic component)! I’ve taught this lesson to my colleagues in other specialties; through the years, most of them have come around to accept my view (it’s funny to hear these words come from the mouth of a pediatric cardiologist who deals with congenital heart disease, but our work together has more than convinced her).  In the past, the tools haven’t been able to tease out the genetic factors from the environmental ones, but with advances in technology, it won’t be long until the genetic basis of common diseases. such as diabetes, asthma, schizophrenia, etc. will all be known.

And when the technology allows this to happen, it will change all of medicine.  Rather than being a field that waits for individuals to develop symptoms and signs of disease and then treats those symptoms and signs, analysis of polymorphisms and mutations throughout the genome will allow us to predict who will develop diseases, and even when they are likely to develop them.  Medicine will focus more on prevention than treatment.  I’m convinced that with the way technology is progressing, this will happen within the next two decades.

Unfortunately, medical schools are not geared for training future doctors in thinking in this way.  The genetic revolution will force a revolution in medical education.  As geneticists, I think it’s important to begin to get this message to the people responsible for developing the curriculum at our medical schools.

(>> Start a discussion!)

Medical Geneticist Dr. Robert Marion on Writing

by Dr. Hsien-Hsien Lei
Posted August 18, 2009 in Books About DNA, Personalities with DNA

Dr. Robert Marion’s latest book, Genetic Rounds, will be published in October. I had the pleasure of reviewing the book yesterday and this week will be sharing an email interview of Dr. Marion touching on medical writing, medical genetics, and the genome revolution.

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Dr. Marion, your writing is an inspiration to me and countless other science and medical writers. Can you tell us about your life as a writer and give some advice to those of us involved in science communication?

Thank you for the kind words.  I’ve been interested in medical genetics and medical writing since college.  For the former of these interests, after getting my MD degree from the Albert Einstein College of Medicine in 1979, I did a residency in pediatrics and a fellowship in medical genetics at that same institution, and then joined its faculty.  So, I’ve been at Einstein for more than 34 years!  To me, that’s pretty amazing!

My writing career has paralleled my medical career.  My first book, "Born Too Soon", a novel about my first month of internship in pediatrics, was written during my senior residency year and published during my fellowship.  "Genetic Rounds" is my seventh published book, and through the years, I’ve also had many essays and short stories published in both medical journal, such as the Genetic Drift section of the American Journal of Medical Genetics, and lay magazines, such as Discover magazine and Reader’s Digest.

I don’t see these two careers as competitive; rather, they are complementary.  From early on, I found that writing about my encounters with patients and their families helps me better understand my motivation in the clinic.  So first and foremost, my writing is self-help for me: the essays that are collected in "Genetic Rounds" serve as psychotherapy for me.

But the writing is more than that.  The field of genetics is exploding.  One can’t read a newspaper or watch a TV news magazine without encountering an article about a mutation or a polymorphism in a particular gene that prevents the individual from needing to sleep more than four hours a day (today’s particular article) or some related issue.  People are interested in knowing about the human side of these discoveries, about the individuals behind the basic science.  As clinical geneticists, we are privileged to see extremely rare and unusual conditions, disorders whose basis might hold the key to an important and universal discovery.  As writers, it is our responsibility to be able to report on these compelling individuals. 

(>> Start a discussion!)

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).

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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Books About DNA: The Crime of Reason by Robert B. Laughlin

by Dr. Hsien-Hsien Lei
Posted January 15, 2009 in Books About DNA

From Stanford Magazine about Robert B. Laughlin’s new book, The Crime of Reason: And the Closing of the Scientific Mind:

Just wait until enough people read Laughlin’s suggestion that, in addition to the open announcements of cloned animals, “It is very likely that we also got Hal (or Heather) the human. . . . There was, however, no public announcement of a cloned human, presumably because of the storm of public outrage that would have ensued.”

Is he serious? “I cannot prove it,” says Laughlin, throwing in a charming smile while emphasizing that the speculation is scientifically sound.

(>> Start a discussion!)

Books About DNA: Coming to Life by Christiane Nusslein-Volhard

by Dr. Hsien-Hsien Lei
Posted May 9, 2008 in Books About DNA, DNA Quotes and Excerpts

Coming to Life: How Genes Drive Development by Christiane Nusslein-Volhard

Christiane Nüsslein-Volhard, winner of The Nobel Prize in Medicine, gives a concise and illustrative overview of genetics, evolution, and cellular processes as well as a discussing of current ethical issues in human biology.

An excerpt from the American Scientist review of the book:

The subtitle of Nüsslein-Volhard’s book is How Genes Drive Development. That’s really the essence of her conception of developmental biology, a view that guides the organization of the book. She begins with chapters that introduce the genetic machinery, heredity, chromosomes, genes and proteins. She moves on to a brief discussion of the role of model organisms that have been crucial in developmental genetics and proceeds to the first of these, D. melanogaster.

(>> Start a discussion!)

Books About DNA: Tomorrow’s Table

by Dr. Hsien-Hsien Lei
Posted May 2, 2008 in Books About DNA, DNA Quotes and Excerpts, Genetically Modified Foods and Organisms

Tomorrow’s Table: Organic Farming, Genetics, and the Future of Food by Pamela C. Ronald and R. W. Adamchak

From Dr. Ronald’s blog:

One of the major themes of our book “Tomorrow’s Table: Organic Farming, Genetics and the Future of Food” is that the judicious incorporation of two important strands of agriculture—genetic engineering and organic farming—is key to helping feed the growing population in an ecologically balanced manner. We are not suggesting that organic farming and GE alone will provide all the changes needed in agriculture. Other farming systems and technological changes, as well as modified government policies, undoubtedly are also needed. Yet it is hard to avoid the sense that organic farming and genetic engineering each will play an increasingly important role, and that they somehow have been pitted unnecessarily against each other. Our ambition in this book, therefore, is not to be comprehensive, but to identify roles for both GE and organic farming in the future of food production.

Another theme of the book is that the broader goals of ecologically responsible farming, and the adherence to those ideals, are more important than the methods used to develop new plant varieties. To this end, we have generated a list of key criteria
to help guide policy decisions about the use of GE in food and farming.

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Books About DNA: The Century of the Gene by Evelyn Fox Keller

by Dr. Hsien-Hsien Lei
Posted April 25, 2008 in Books About DNA, DNA Quotes and Excerpts, DNA in General

The Century of the Gene by Evelyn Fox Keller

In a book that promises to change the way we think and talk about genes and genetic determinism, Evelyn Fox Keller, one of our most gifted historians and philosophers of science, provides a powerful, profound analysis of the achievements of genetics and molecular biology in the twentieth century, the century of the gene. Not just a chronicle of biology’s progress from gene to genome in one hundred years, The Century of the Gene also calls our attention to the surprising ways these advances challenge the familiar picture of the gene most of us still entertain.

In a CBC Radio interview, Dr. Evelyn Fox Keller talks more about genes and public perception. (HT: Women in Science)

For more discussion on what is a gene, see this Genome Research article – What is a gene, post-ENCODE? History and updated definition.

…we propose a tentative update to the definition of a gene: A gene is a union of genomic sequences encoding a coherent set of potentially overlapping functional products.

DNA Network member Sandra Porter at Discovering Biology in a Digital World gave her definition of a gene last year.

(>> Start a discussion!)

Two Books About Breast and Ovarian Cancer Genetics by Masha Gessen and Jessica Queller

by Dr. Hsien-Hsien Lei
Posted April 11, 2008 in Books About DNA, DNA Quotes and Excerpts, DNA in General

Blood Matters: From Inherited Illness to Designer Babies, How the World and I Found Ourselves in the Future of the Gene by Masha Gessen

In 2004 genetic testing revealed that Masha Gessen had a mutation that predisposed her to ovarian and breast cancer. The discovery initiated Gessen into a club of sorts: the small (but exponentially expanding) group of people in possession of a new and different way of knowing themselves through what is inscribed in the strands of their DNA. As she wrestled with a wrenching personal decision—what to do with such knowledge—Gessen explored the landscape of this brave new world, speaking with others like her and with experts including medical researchers, historians, and religious thinkers.

Pretty Is What Changes: Impossible Choices, The Breast Cancer Gene, and How I Defied My Destiny by Jessica Queller

Laura Landro of the Wall Street Journal reviewed both Blood Matters and Pretty Is What Changes.

As we learn more about our risks of developing a wide range of cancers and diseases, how and when should we use that information in making life-altering decisions?

That is the question tackled in two books, both of them written by women in their 30s who are of Ashkenazi Jewish descent and who learn that they carry the BRCA breast- and ovarian-cancer gene mutation that is common to their ethnic heritage. When Jessica Queller, a television writer, and Masha Gessen, a journalist, are confronted with the prospect of imminent prophylactic mastectomies and the future removal of their ovaries, they find themselves weighing the elevated cancer risk against their unrealized personal goals and their fear of disfiguring surgery. The women also have to contend with the often conflicting advice they receive from genetic counselors, scientists, physicians and fellow patients.

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