Category Archives: Her Nature Posts

GenoHype! Genetics and Athleticism

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The ultimate Nature vs. Nurture debate

boltThe world of professional sports is littered with examples of athletes who defy the laws of natural science and make human marvels seem effortless. Take Usain Bolt, for example. The 6’4″ Jamaican sprinter not only made history by breaking both the 100m and 200m record in the same Olympic games, but his laid back attitude and gesturing made it seem easy.

So, what is known about genetics and athletic ability? In searching the published literature, it is clear that there is a huge amount of research into gene variants and athletic prowess. Most of these studies involve mouse models and have not yet been clearly translated to human athletic performance. There is one exception, that has been replicated by several different researchers in different populations: The ACTN3 gene, or the “sprinting gene” as it has been dubbed by the media. Basically, studies have shown that olympic athletes are more likely to have a particular ACTN3 variant in these genes, over non-elite athletes.

I guess I shouldn’t have been surprised by this New York Times article that ran yesterday. The article features Atlas Sports Genetics, a company that is currently offering genetic testing for the ACTN3 gene, and are marketing the test specifically towards children. In their words “knowing what a person is born with can ensure they develop into the best athlete they can be.”

Strangely enough, I just finished reading the chapter in Malcolm Gladwell’s Outliers in which he deconstructs the notion that professional athletes are simply gifted with natural athletic ability, but are rather conditioned for athletic prowess through a combination of chance (e.g. what month one happens to be born in), circumstance (e.g. being in the right place at the right time) and practice (approximately 10,000 hours).

A certain amount of athletic ability is innate. However, ACTN3 represents one out of potentially hundreds or thousands of genes that contribute to natural athletic ability. Take these hundreds of gene variants and couple them with a child’s physical and social environment and personal experiences, and looking at the ACTN3 variant on its own seems somewhat inconsequential to a child’s athletic development. Consequently, making decisions based on this gene variant alone seems absurd.  

Kids play sports, because sports are fun.

I while ago I posted about the need for the genetics community to at least recognize some of the cool and recreational aspects of the field. In some capacity, I think there is an opportunity for genetic testing of ACTN3 to fall into the realm of recreational genetics.  However, in my opinion Atlas Sports Genetics has got it wrong. This information should not be used in children, and should not be used to guide parents decisions about their children’s recreational time.

Even though research has shown an association between athletes and an particular ACTN3 variant, I find it hard to believe that a parent would want to determine their child’s athletic path based on the results of a genetic test. I would hope that a child’s personality, desires, likes and dislikes would take precedence over a genetic test result. I can’t help but think that genetic testing for “athletic genes” in kids will only serve to undermine the most fundamental purpose of sport and play: fun.

Screening teens for hypertrophic cardiomyopathy

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picture-32On October 13, 2008 New York Rangers draft pick, Alexei Cherepanov, suffered a fatal heart attack and died during a hockey game. Only 19 years old, Cherepanov is the latest in a long line of young elite athletes who have lost their lives to Hypertrophic Cardiomyopathy (HCM), a genetic heart condition.

HCM basics (more detailed info here)

  • It affects 1 in 500 people
  • Symptoms include shortness of breath, chest pain, fainting, dizziness and sudden death
  • Diagnosis is made by 1) echocardiogram (heart ultrasound) and 2) ECG (measurement of the heart’s electrical impulses)
  • It cannot be cured, but it can be managed using a combination of lifestyle modifications (i.e. avoiding strenuous activity), medication (i.e. beta-blockers) and surgical interventions (i.e. ICD implantation)
  • There are currently 15+ genes known to be associated with primary HCM (more detailed info here)

picture-4The question of population screening

Strenuous physical activity is dangerous for someone with HCM, especially because sudden death can be the first symptom. This has prompted some to suggest that all young adults should be screened for HCM (using echocardiogram and/or ECG) prior to being enrolled in competitive sports. An Italian study found that screening teens for HCM, and disqualifying those affected from participating, eliminated the risk for sudden death from HCM in young athletes.

Is screening teens for HCM something we should be doing in North America? Certainly within the context of the Canadian public health care system, it could be feasible. Sports have been a big part of my life, and I can’t imagine being told as a teen that I was “disqualified” from participating. However, being left out certainly pales in comparison to suffering a heart attack and possibly sudden death. Eighteen year old David Carle of Denver University knows this all too well.

In the current climate of preventative medicine, it seems to me that screening for HCM should be high on the public health priority list. The questions then become a) at what age should this screening occur b) how would this be implemented and enforced and c) when does prevention go too far? Anyone care to weigh in?

Photo Credit 1: http://www.bleepingidiots.com/2008/10/alexei-cherepanov-passes-away/

Photo Credit 2: http://www.flickr.com/photos/extrasupercutie/689313791/

Retail DNA Testing named “Invention of the Year”

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Is it merely a fad? Or will retail genomic testing companies have longevity? No one knows the answer yet, but Time Magazine believes 23andMe’s DNA testing service is important enough to hold the title
Best Invention of 2008:

“Not everything about how this information will be used is clear yet — 23andMe has stirred up debate about issues ranging from how meaningful the results are to how to prevent genetic discrimination — but the curtain has been pulled back, and it can never be closed again. And so for pioneering retail genomics, 23andMe’s DNA-testing service is Time’s 2008 Invention of the Year.”

So, it is not 23andMe’s product that Time Magazine is applauding, but the fact that the company is attempting to sell their product at all. How many people are actually ordering these tests? No one really knows. I’ve heard 23andMe reps say ‘we can’t give you definite numbers, but we can say that there are people signing up everyday.’ (Has anyone heard any concrete numbers?)

In the midst of a global economic crisis, I can’t imagine that consumer spit samples are rolling in with any great frequency. The Genetics and Public Policy Center recently launched much needed research into these companies and their consumers. Hopefully, by the time global markets stabilize and American economic security is restored, we’ll have a better understanding of the real impact of these trailblazing retail genomic products.

Photo Credit: http://genomicenterprise.com/services

Genetic Counsellors and Genomics

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Where do we belong?

Earlier this month the Canadian Institute for Advanced Research (CIFAR) hosted an open forum panel discussion entitled “Personalized Medicine: Are we Ready?” The 7 person panel was made up of a diverse group of scientists, physicians and a couple of direct-to-consumer company representatives. In addition, Cheryl Shuman, a genetic counsellor and the director of the University of Toronto Genetic Counselling program was included. Not only did I anticipate an interesting debate, but I was looking forward to hearing how the GC perspective might stand out against the rest.

In the end, I was disappointed. The debate quickly descended into (as it inevitably does) the scientists vs. the capitalists. The overall sentiment of the evening was (as it always is) that 1) personalized medicine is “not yet ready for prime time” and 2) DTC companies are selling tests that lack clinical validity and utility.

I was left wondering how genetic counsellors might fit into the world of personalized medicine. Interestingly, Gene Sherpas has been pondering the same thing. And according to him, the outlook is bleak. He cites GC’s lack of medical training as a major barrier, and believes that training nurses in genetics is a more feasible option. He also chastises GCs for providing medical advice without physician supervision. As a young genetic counsellor with a strong interest in personal genomics, I find these comments disturbing. Some of my thoughts on the issue:

  1. The advent of personalized medicine will require an overhaul of GC training programs. Our programs were initially developed to fill a void in the area of clinical genetics, and our classroom training and clinical rotations reflect this purpose. One of my colleagues did her thesis on the possibility of adding a component of specialization to GC training programs, perhaps in the form of fellowship. I think she’s on to something.
  2. There is a huge potential for GCs to have a role beyond that of patient interaction. We have first-hand knowledge of the implications that genetic testing can have on people, their families, their social network. This knowledge can and should be used to inform discourse between healthcare providers, administrators and legislators about the impact and issues surrounding genomic medicine.
  3. Within the GC community there is tension between those GCs who work directly with physicians vs. those that don’t. As eloquently described by the anonymous GC commenter on the Gene Sherpas post, this issue is rooted in our current lack of regulation. This issue is real, and certainly not new.
  4. Genetic counselors need to get off the listserv, and get on the web! There is a lot to be said for the “public thinking” model that blogs and open forum sites allow for. We need to engage our allies and our critics in professional debates, in order to adequately adapt and stay relevant in this ever-changing environment.

Tell your genetic counsellor how you really feel

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I recently had an opportunity to receive honest and explicit feedback from a patient I encountered in the clinical setting. For confidentiality purposes I won’t discuss the details of the encounter, but I highly doubt that I will ever stumble into such a unique and serendipitous situation again. It was enriching, and left me wanting more.

Given that the information we provide in genetic counselling sessions is complex and often anxiety provoking, I wouldn’t be surprised to learn that our patients have a lot to say, be it good or bad.

In training, genetic counselling students receive a lot of criticism from their clinical supervisors, teachers and program director. However, as far as I am aware, there is no system in place to elicit direct feedback from patients.

So why not provide a section on your clinic website where a patient can send an anonymous comment? Or why not keep a comment box in your clinic waiting room? As I see it, we have nothing to lose and everything to gain.

Scania Price, designer of the “Always in Beta” t-shirt defines the term as:

Always testing.

Always pushing.

Always in development.

Never, ever standing still.

The applicability of this mantra to the field of genetics is too great to ignore. With countless other industries embracing the notion of “always in beta,” why shouldn’t we? And what better way to do this, than go to the source– the patients themselves.

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The concept of patient feedback has been explored more broadly for the medical community:

  • Sites such as DrScore.com allow people to rate their physician in a public forum. The feedback in this case is intended for other patients, not the doctor’s themselves.
  • Recently, researchers at the Medical College of Georgia released the Patient Dashboard, a kiosk that can be placed in doctor office waiting rooms. The machine provides real-time feedback to physicians in the form of red lights (for dissatisfied patients) or green lights (for satisfied patients), and monthly status reports.

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If you know of any other examples, please comment below. Has anyone been asked to provide feedback for their healthcare provider? Any experiences with a genetic counsellor you’d like to share?

Genomics and America: Election 2008

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With the upcoming US election, I can’t help but watch and think about how the outcome might affect genetic policy.

I first heard of Barack Obama in the fall of 2006, when his proposed “Personalized Medicine Act” came up in a class discussion. Among other things, this bill (which has been revised and is now called the Genomics and Personalized Medicine Act of 2007) states that realizing the promise of personalized medicine requires:

  • the expansion and acceleration of genomics research
  • a capable genomics workforce
  • improved regulation over the quality of genetic tests, direct-to-consumer advertising of genetic tests, and use of personal genomic information

Needless to say, this bill (and the man behind it) easily appeals to the scientific community, and specifically the genetics community. A couple of weeks ago, Obama revealed an impressive list of scientific advisers which has only served to increase the scientific community’s support for the presidential candidate.

The addition of Sarah Palin to the republican bill provides a very different, and troubling layer to their scientific platform- namely her support for the inclusion of creationism in science classes. With genetics being the cornerstone of evolutionary theory, what would a republican win mean for genomics research funding and the “genomics workforce”?

This question is made more interesting when you consider her youngest son’s Down Syndrome diagnosis. If it is true that the diagnosis was made prenatally, then it is conceivable that Palin would have interacted with genetics during her pregnancy, and possibly even met with a genetic counselor. [Out of curiosity I searched the National Society of Genetic Counselor's website to find a prenatal genetic counselor in or around Anchorage, Alaska; there are none listed.] If not prenatally, it is likely that her son would have been evaluated by a geneticist within the first few months of life.

Palin has committed to advocating on behalf of children with special needs, an important and honorable task. However, the special needs community is intimitely tied to the genetics community through clinical care, research and even advocacy work. I can’t help but imagine that policy decisions made within the context of a creationist ideology would only serve to undermine the genetics/genomics community and in turn, do a great disservice to the people Palin so fervently promises to help.

Petition for Life: Albinism in Tanzania

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In June I wrote about the terrifying discrimination against people with albinism that is taking place in parts of Africa. Rick Guidotti (a former fashion photographer turned health advocate) has partnered with Under the Same Sun, and will be heading to Tanzania in mid-October to assist national and local officials in putting an end these hate crimes.

If interested, please show your support by signing this petition: http://www.underthesamesun.com/petitions.php

Genetics for fun, not health

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Lately, I’ve had a couple friends ask me about the genetics of things like athleticism, intelligence and homosexuality. Regardless of the question, my answer is the same: I have no idea. The focus of my training was solely on medical genetics. When we did disucss genetic testing for non-medical traits, it was generally within the context of the surrounding ethical, legal and social issues. To be honest, I fear the use of genetics for non-medical reasons (as might anyone who has watched the movie GATTACA.) Nevertheless, I’ve decided to make an effort to be more informed in this area.

In browsing, one of the first things I came across was The Genius in All of Us, an interesting blog-to-be-book project by writer David Shenk. He’s posting pieces of his book-in-progress (tentatively entitled “The Genius in All of Us: Nature, Nurture and the New Science of Talent and Giftedness”) and is actively seeking feedback from readers in order to enhance the project. From what I have read so far, he provides a balanced yet skeptical look at the “science” behind the genetics of giftedness, and takes a critical approach to the way in which this science is portrayed in the media. It’s worth a look.

“Recreational genetics”: A useful paradigm

A while ago I posted about “recreational genetics,” a term that was refuted by a couple of commenters on this ScienceRoll post. I agree that drawing a definitive line between the practice of recreational and medical genetics is impossible. However, I think the concept is an important one in understanding the differences in motivations for seeking out genetic testing or pursuing genetic research.

This week 23andme dropped the price of their testing from $999 to $399. Despite their claims that they have “democratized personal genomics” the facts remain that:

  1. Their service is about fun, interest and curiosity.
  2. Someone with a serious health concern or family history of disease is hopefully turning to their doctor first, and is not paying $400 out-of-pocket for this testing.

So even though someone might gain some health-reated information (proven, research or otherwise) from the 23andme service, I would still argue that the test is recreational in nature.

Over the next couple of weeks, I am planning to look into and post about a few recreational genetics topics, starting with athleticism. If there is a topic you are interested in or a good resource you know of– please feel free to pass along.

BReast CAncer: An Unimaginable Decision

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Surgery or Surveillance?

At the risk of becoming overly focused on celebrities with genetic conditions, I can’t help but comment on Christina Applegate’s interview on Good Morning America last week. She speaks openly about her recent breast cancer diagnosis and reveals that she has a genetic mutation in her BRCA1 gene that makes her at a very high risk of developing breast and/or ovarian cancer. In what some are calling a controversial decision, Applegate opted to forgo radiation and chemotherapy treatment and chose prophylactic removal of both breasts instead.

After watching the documentary In the Family, I have a newfound appreciation for the agonizing decisions about surgery that women with BRCA mutations are faced with. Genetic counselors learn to present BRCA-positive women with a choice: prophylactic removal of the breasts and/or ovaries OR close surveillance using mammography, MRIs and ultrasounds with the hope of catching developing cancer early. This film, which brought a room full of GC’s to a deafening silence, very clearly illustrates the lack of support for women who choose the “surveillance” option. Time and time again the heroine/director Joanna Rudnick is gently pushed towards choosing surgery by everyone around her.

Here’s the movie trailer:

Christina Applegate doesn’t talk about how long she has known about her BRCA status, nor does she speak about her decisions surrounding ovarian cancer screening or surgery. Given the gravity of the decision I imagine that she prefers to keep this information private, and rightly so. She does, however, credit her breast MRI with saving her life, and has committed to creating a foundation that will raise money for the costly MRI screening for women at high risk for breast cancer. I applaud this effort – especially because it will provide some much needed support to those who would like to choose surveillance.

In the Family will air as part of POV on PBS on October 7, 2008. Although it is very heavy, I highly recommend it. For more information about hereditary breast and ovarian cancer, click here or here.

Michael Phelps and Marfan Syndrome?

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His body has been described as a “freak of nature” and “transhuman.” The BBC has a comprehensive break-down on why it’s perfect for swimming. But as I watched 23-year-old US Olympian Michael Phelps win his 7th gold last night, I couldn’t help but think “Marfan Syndrome.”

Marfan Syndrome is a rare genetic condition that affects the connective tissue in the the body. Some of the more obvious physical features seen in Phelps include:

- Wing span much greater than height

- Long and slender fingers/toes

- Protruding sternum (pectus carinatum)

- Hyperflexibility of joints

- Long narrow face

- Small jaw

- Overcrowding of teeth

Unfortunately, Marfan Syndrome is also associated with a high risk for a fatal heart condition in which the major vessel leading from the heart can tear.

A quick google search made it clear that I am far from the first person to have linked the swimmer with this condition. Phelps himself writes about being evaluated for Marfan Syndrome in his autobiography Beneath the Surface:

I could feel something wrong one day when I dove into the water at practice. My heart was accelerating and Bob suggested I see the doctor. Because I was very flexible and had long hands and feet, I had some early symptoms of Marfan Syndrome. (Page 66)

In his book, Phelps goes on to say that he is regularly monitored and his heart is in good shape. It is not clear from his recount whether he has been given a definitive diagnosis of the condition, and out of personal curiosity I wonder whether he has had genetic testing. But if in fact he does have Marfan Syndrome, we can expect a 50% chance that little Michael Phelps offspring will share their father’s unique physique and potential for swimming prowess.

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Post Script: Phelps’ possible genetic advantage is generating some interesting ethical discussions in the blogosphere