2009 August

The DNA Network Reincarnated (Again)

by Dr. Hsien-Hsien Lei
Posted August 29, 2009 in The DNA Network Specials

The DNA Network, a not-for-profit consortium of some of the best genetics blogs on the Web, has a new homepage at DNAbloggers.com designed by Ricardo Vidal. The Network is now over two years old and boasts over 50 active blogs. If you’d like to join, please email me at hsien AT eyeondna DOT com.

The Network is now available via Google Reader as a “bundle” where you can also access the aggregated RSS feed.

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Dr. Robert Marion on Physician Knowledge of Genetics

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

genetic rounds robert marion

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.


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


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

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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

genetic rounds robert marion

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.


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!


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

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Dr. Robert Marion on Complex Genetic Diseases

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

genetic rounds robert marionPart 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!)


Dr. Robert Marion on Preimplantation Genetic Diagnosis

by Dr. Hsien-Hsien Lei
Posted August 20, 2009 in DNA Testing, Personalities with DNA

genetic rounds robert marionHere’s part 2 of my interview with Dr. Robert Marion, whose new book, Genetic Rounds, will be published in October. (See Part 1 for Dr. Marion’s thought on medical writing.)

One of the most touching aspects of Genetic Rounds was your concern for the families of patients affected by genetic disorders. Some would-be parents turn to preimplantation genetic diagnosis (PGD) so as to avoid passing down certain genetic mutations to their offspring. What are your feelings about PGD?

Dr. Marion: My feelings are mixed.  PGD is an amazing tool, an opportunity that allows families like the Kennedys in "Genetic Rounds" who, because of the birth of a previous child with a devastating genetic disorder (in their case, Spinal Muscular Atrophy) have decided not to have more children, to safely reproduce and raise a family.  As such, it’s a technique that allows babies who would not have been conceived to be born.  So, from that perspective, it is an incredible breakthrough.

The problem I see, however, is that I don’t think we’re certain of what effects PGD and in vitro fertilization in general  might be having on the pre-embryo and embryo.  Recent work showing an increase in conditions in which epigenetic disturbances may play a role, such as Beckwith Wiedemann syndrome, points to our need for additional information about how extra-corporal fertilization (a technique that’s necessary for PGD) affects gene silencing and gene expression.  Until these studies have been completed, we have to continue to be cautious.

However, I think the benefits of PGD clearly outweighs the risks. 


I recently received an email from a reader who’d undergone preimplantation genetic diagnosis prior to conceiving their children by IVF. Unfortunately, the genetic mutation they were concerned with was not picked up during the screening. With permission, here’s the email I received:

My wife and I underwent IVF and PGD testing to try and avoid passing on a genetic condition which she carries.  Her mutation had been previously identified by a certified and highly respected laboratory.  Three embryos were implanted and we were elated at the birth of our fraternal twin sons.  Almost immediately, my wife recognized the signs of her condition in one of our sons.  A blood sample was drawn from him and from my wife.  These were sent to another highly respected lab that confirmed 1) the initial laboratory successfully and properly identified my wife’s mutation and 2) our son has the condition.

The laboratory that performed our PGD refuses to respond to our inquires.  We just want to know and understand what happened — and that someone gives a damn.

Prior to undergoing the procedure, we thoroughly weighed and examined the moral and practical issues surrounding IVF & PGD.  I researched the topic as much as I possibly could and kept running across assurances such as "error rates approaching zero."  Heck, that’s better than what you get for any medical procedure! 

I can’t begin to explain to you how alone we felt.  It would be helpful to know that someone else has gone through this before… (emphasis added)

What are your thoughts on preimplantation genetic diagnosis? Do you have some kind words to share with this reader? For more information, see my previous post – Genetic Testing to Prevent Wrongful Life.



Medical Geneticist Dr. Robert Marion on Writing

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

genetic rounds robert marion 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.


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).

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!



New Gene for Ovarian Cancer – BNC2

by Dr. Hsien-Hsien Lei
Posted August 5, 2009 in DNA and Disease

Infamous genes for breast and ovarian cancer, BRCA1 and BRCA2, now have a new companion – BNC2. A new study has found that BNC2 is more common than BRCA1 and BRCA2 but does not confer as high of a risk for ovarian cancer. (Wall Street Journal)

As reported in Nature Genetics, researchers performed a genome-wide association study and identified a new ovarian cancer susceptibility locus on chromosome 9p22.2 where the BNC2 gene is located. The gene may encode a transcription factor that plays a role in the differentiation of spermatozoa and oocytes.

Carolyn B Saks award-cropped In September 2007, I interviewed two women who’d experienced ovarian cancer – Sandi Pniauskas and Carolyn Benivegna. Sadly, Carolyn died a year later but Sandi carries on her work to bring awareness to ovarian cancer. She is urging people to sign the petition for an ovarian cancer awareness postage stamp in memory of Carolyn.

We, the undersigned, respectfully request that the Citizens’ Stamp Advisory Committee approve an Ovarian Cancer Awareness Stamp. With early diagnosis and specialized care, survival rates increase dramatically. Every day counts…women/girls of all ages are dying needlessly from this terrible disease. Each year, more than 20,000 American women are diagnosed with ovarian cancer and nearly 16,000 deaths occur in the U.S. from this dreaded disease. Ovarian cancer is the deadliest of all gynecologic cancers, killing more women than all other gynecologic cancers combined. Every female is at risk (even those who have had their ovaries removed), and no age is spared (girls as young as one year old have been diagnosed with Ovarian Cancer).

For more information, see the National Cancer Institute’s page on ovarian cancer.

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Happy DNA Birthday to Esther Dyson!

by Dr. Hsien-Hsien Lei
Posted August 3, 2009 in Personalities with DNA

I want this cake for my birthday this month! Esther Dyson celebrated hers in July and got very cool DNA birthday cake from Big Think where she was a panelist discussing genetics research.


Apologies for the belated birthday wishes!

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Q&A with Anne Wojcicki of 23andMe

by Dr. Hsien-Hsien Lei
Posted August 2, 2009 in DNA Podcasts and Videos, Personalities with DNA

The New York Times Freakonomics blog is hosting a Q&A with 23andMe founder, Anne Wojcicki. You can post your questions in the comments section. Answers will be available on the Freakonomics blog in about a week.

Bring Your Questions for Genetics Entrepreneur Anne Wojcicki

Here’s a recent video of Wojcicki and Linda Avey talking about 23andMe’s new initiative, Research Revolution.

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