Author Archives: Allie Janson Hazell

Tweeting: A New Dimension to the AEC

I wanted to put together a quick post mid-AEC to highlight a new (and for many, invisible) dimension to this year’s conference.

For those of you attending the NSGC Annual Education Conference in Boston this week, you’re likely keeping busy hopping between talks, committee meetings, networking functions and catching up with old friends and colleagues. You’re listening to experts in our field discuss new and relevant topics in our profession, and exchanging your thoughts on the lectures with the person you are sitting with.

If you aren’t able to attend the AEC this year, you may have perused the preliminary program and made note of the topics, but that may be the extent of your connection to the AEC content.

But, what if those of you not attending could check-in on the ongoing conversations happening at the AEC? What if you could listen in on the highlights from the talks, and hear attendees reactions to the material? You can! Twitter allows instant access to the conference dialogue. For the first time, the conference organizers have designated a Twitter hashtag (#AEC2012) to  help ‘organize’ or ‘amalgamate’ the online conference conversation. Whether you have a twitter account or not– just click on one of the following links in order to access real-time AEC reactions and discussions:

This has benefit not only for non-attendees. As an attendee, Twitter has enhanced the conference experience for me immensely. I love being able to “listen” to others reaction to the same material I am processing. It is like being able to read someone’s conference notes over their shoulder. I’m always surprised by the difference in what others take away from the same information that I am listening to. And I like being able to silently interact with other conference goers (usually strangers) in order to gain access to another perspective.

Laura Hercher (@laurahercher) and I (@alliejanson and @GenoScapeGC) are both at the conference and actively tweeting throughout the day. We are also occasionally tweeting from the @theDNAExchange account. There are a numer of other notable GC tweeters here as well: @ASanSmith, @GeneticCouns and @dcheatherc.

Whether you’re attending the conference or tuning in from afar, I encourage you to join in!

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New York Times Weighs in on GC Conflict of Interest

On Saturday the New York Times ran a piece titled Conflict Potential Seen in Genetic Counselors, about whether it is ethical for genetic counselors who are paid by corporate labs to be counseling patients about genetic testing. As any reader of The DNA Exchange will know, the topic of conflict of interest in genetic counseling has been an important one of late for Robert Resta, one of our contributors, who has written here extensively on the subject. The Times article used a quote from a commenter on one of Bob’s earlier posts on the topic (see ‘Are We There Yet’).

Conflict of interest is a contentious and emotional issue among genetic counselors (in fact we’ve received some strong criticism regarding Bob’s posts). Because of its controversial nature, I think it’s a subject we tend to shy away from. But the NYT article exposes a serious gap – there is public discussion happening about our field, that we as an industry appear to be somewhat reluctant to discuss ourselves. The DNA Exchange exists to promote open dialogue on exactly this sort of topic. With coverage by a media outlet at the level of the New York Times, it is clear that this is an issue of growing public concern that we all should be talking about, if not researching more formally.

I’m curious about GC reactions to this article. Did you find the author’s point fair? Is ‘Conflict of Interest’ in genetic counseling something that concerns you? Is it something that you have to think about in your day-to-day work? If so, what should we be doing about it? Please share your comments, or cast your votes (anonymously) below.

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Wanted: Campaign to End Genetic Determinism

Today is National DNA Day, a day designated to promote genetics and genomics education. I’ve always found it a little unfortunate that DNA day falls so close to Earth Day (April 22). Clearly the latter is more recognized and celebrated throughout the world. Wouldn’t we do better to celebrate DNA Day six months from now, when it might get a little more attention? But in considering it further, I think we can benefit from the opportunity to celebrate DNA and our planet at the same time. If nothing else, it provides a perfect opportunity to tackle one of the biggest challenges we face in genomics education: Genetic Determinism.

Genetic determinism’ or the prevailing perception that our genes determine health and dictate our behaviour, is a misconception that healthcare providers and the genetics community tackle daily. In reality, we know that genes are only one piece of the puzzle. Our genes plus our environment and the complex interaction between the two must be considered in order gain a realistic understanding of health and disease risk.

A recent reminder of the perils of genetic determinism came in a New York Times article titled ‘Study says DNA power to predict illness is limited.’ This article reported on a study that looked at over 50,000 identical twins in relation to 24 common health conditions to determine how often one or both twins developed a particular condition. As the author reports,

Since identical twins share all of their genes, the investigators could ask to what extent genes predict an increased chance of getting a disease. Using a mathematical model, they reached an answer: not much. Most people will be at average risk for most of the 24 diseases.

So, what would the average person reading this article (or just the headline) likely take away from it? Probably: genes don’t matter.

I’ve found that I can measure how much traction a study has gained by the number of personal emails I receive from friends and family linking to a particular source. Needless to say, this was a particularly ‘hyped’ study. And one that I found quite frustrating, not because of what the findings were, but rather how the findings were being portrayed. I was not alone in this sentiment as evident by the amount of online chatter that ensued. Erika Check Hayden over at Nature News Blog nicely summed up the sentiment:

Geneticists don’t dispute the idea that genes aren’t the only factor that determines whether we get sick; many of them agree with that point. The problem, geneticists say, is not that the study… arrived at a false conclusion, but that it arrived at an old, familiar one via questionable methods and is now being portrayed by the media as a new discovery that undermines the value of genetics.

So, essentially just because your genes aren’t everything, doesn’t mean your genes are nothing.

The fact that genetic determinism continues to persist as a mainstream perception illustrates that we, as the scientific community, simply aren’t doing enough to communicate the ‘genes plus environment’ message to the general public. Or, we need to consider new approaches to delivering this message. As scientist and science writer Christine Wilcox argues:

…scientists pass the buck when it comes to communicating science. We write the papers, but then hand them off to journalists and say “here, explain this to everyone else.” … Then, we gripe and moan when the science is shottily explained or, worse, completely misinterpreted.

This argument can be extended beyond researchers to healthcare providers, and the genetics community in particular. For genetic counsellors specifically, our business is communication. Which brings us back to DNA Day: this day is not only an important initiative, but a yearly reminder that we could all be doing a little (or a lot) more.

This blog post was originally published on www.theGenoScape.com.

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Whole Genome Sequencing and Calculating Risk Tolerance

I often liken the human genome to a savings bond. When we get it, we overpay. Eventually– barring an economic meltdown (or genomic bubble)—it matures. For most of us the return on investment will be low. But for a few of us, the return on investment will be substantial.

– Misha Angrist, Personalized Medicine 2011 8(6), pg 654

Most people who have met with a financial advisor have probably used some sort of Risk Tolerance Calculator at some point in time. These calculation tools are meant to help give you and the advisor an accurate sense of the types of investments and portfolios that are likely to be right for you. My husband and I went through this exercise again recently and it was interesting for me to see how different our risk tolerances are. I started thinking that this type of risk tolerance tool could be applied in a genetic counselling context, especially with respect to whole genome sequencing.

Last week John Lauerman published an article describing his experience with whole genome sequencing (through the Personal Genome Project) and his struggle to come to terms with his results: learning he carries a potentially life-threatening gene mutation. He reviews his results with Aubrey Milunksy, a Harvard geneticist who expressed concern over the reporter’s decision to participate in the genome sequencing research project. Their conversation highlights the two very different ways to look at the same information:

“You know it’s there, but you don’t know what it means,” [Milunksy] said. “You’re smack in the territory of inviting anxiety into your life. And this may have no meaning whatsoever in your entire life.” I disagreed. The results had actually taken some uncertainty out of my life, I told Milunsky… I have a rare mutation linked to rare conditions, most cases of which can be treated. Wouldn’t it make sense for me to undergo a blood test regularly to see whether my blood counts had changed?

In my role at Medcan, I counsel healthy people who are undergoing SNP-based genomic testing for preventative health reasons. Our current testing panel is centered on: 1) common diseases 2) SNPs that have the highest level of validation and 3) health conditions where ‘actionable’ preventative recommendations can be given. Clients have the option to opt-out of receiving certain results (for late-onset Alzheimer’s disease, for example), although anecdotally very few patients actively opt-out of receiving information. Conversely, clients routinely ask about the possibility to know ‘everything.’ These individuals aren’t concerned that there is no preventative recommendations related to particular health condition, they are just interested and curious to access as much info as they can. Just like John Lauerman, these are the type of people who would participate in the Personal Genome Project, if it were available to them in Canada.

A new genetic counselling challenge

Whole genome sequencing (WGS) presents a new challenge for the field of genetic counselling. It is impossible for genetic counsellors not to think about how different our role will be in the context of clinical results of an entire genome. In my opinion, it is not necessarily the ambiguity of the results that poses the biggest challenge (most of us already deal with ambiguous results on a daily basis), but rather the sheer volume of data that seems insurmountable. Most genetic counsellors will spend about 30-45 minutes with a client discussing genetic testing for a single gene. Using our current model, it seems incomprehensible to review results of a whole genome sequence.

To date, this issue has mostly been discussed in the context of returning WGS results to research participants. In his 2011 article in Personalized Medicine, Misha Angrist argues that the ‘feasibility issue’ shouldn’t be used as a reason not to return research results. Similarly, I agree that lack of feasibility should not be a reason to keep WGS out of the clinic. There are new models of care and new technological tools that can be developed to address the feasibility issue.

Genetic counselling ’risk tolerance’ tool

So, how do you manage to provide comprehensive genetic counselling in the context of piles and piles of data? I think the key is to find a way to distinguish between what people can know and what people want to know. The obvious idea (and similar to what we currently use at Medcan in counselling about the SNP-based genome testing) would be to create a comprehensive checklist of health conditions that people would like to opt-out of receiving. For understandable reasons this would be overly cumbersome and incredibly time consuming.

A more interesting thought would be to develop a ‘risk tolerance’ tool to help identify the type of information that an individual is comfortable receiving. This, when used in the context of pre- and post-test genetic counselling, could be a way to have patients start to think about the potential implications of various types of results and whether or not this is information that they’d like to know. Personalized reports could then be generated based on categorizing findings according to (for example):

  1.  Clinical validity (known disease associated vs. variants of unknown significance)
  2. Actionability (definitive clinical recommendations, some clinical recommendations, or no recommendations)

There are various ways to design this type of tool and personalized report. But a built-in mechanism to provide updated reports to reflect changes in categories or changes in patient decision-making (which may shift based on age, circumstance, health status) would be important.

As far as I know, I don’t think this sort of tool is being used currently, although I’d love to hear from genetic counsellors working in WGS research settings or in those clinics that are offering whole exome sequencing for complex cases. I do think this type of tool should be trialed in a research context, so when it comes time for clinical applications we are prepared to deal with the deluge of data.

While there are clearly differences between the financial application of a Risk Tolerance tool and one that is applied to health, disease prevention and diagnostics, I think this is an important concept to consider. The same justification that can be used to argue against a one-size-fits-all approach to medicine can be used when it comes to whole genome sequencing. As patients increasingly become more involved in their healthcare, it is important that we are armed with the tools to enable individuals to decide the type of information that they want to know.

This blog post was originally published on www.theGenoScape.com

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The Myth of the Designer Baby

A couple of months ago I was interviewed by a few undergraduate students doing a class project on Reproductive Genetics. As  anticipated, their questions centered on new technologies, such as preimplantation genetic diagnosis, and then quickly veered toward the topic of  creating ‘designer babies.’ After completing the interview, I felt like I had  taken the wind out of their sails. For all of their enthusiasm and controversial questioning, I had simply and consistently reiterated two points:

  1. We don’t have the scientific understanding and capacity to pick and choose for cosmetic traits.*
  2. In my honest (and perhaps wishful) opinion, I hope we never gain the ability to do so.

I was reminded of that interview when The Globe and Mail ran a front-page story at the beginning of January: ‘Unnatural selection: Is evolving reproductive technology ushering in a new age of eugenics?‘ It is a piece that we have all read a dozen times before, with quotes from GATTACA to boot. As I started in on the article though, I had a brief moment of self-doubt. More specifically, I wondered if my own ‘wishful thinking’ (point number 2, above) might cloud my judgement and ability to see what is actually being offered in the real world.  What if someone is offering testing in the realm of ‘designer babies’ that I am not aware of?

In the end, contrary to what the title suggests, the article mostly focused on Mendelian diseases and the well-known ethical ‘slippery slope’ discussion. It was also chock full of quotes from medical professionals who bluntly state that we don’t have the capability to select for cosmetic traits, and will likely never have the ability to accurately do so.

There were still things in the article that surprised me, though. For one, the openness of PGD gender selection testing being routinely offered by a US-based center for non-medical indications. I also learned about a fertility center called Natera, that has considered using PGD to test for common complex disease, such as psoriasis. (In looking into the company further I was happy to see that they have a number of genetic counselors on staff.) Most notably, I was surprised by quotes from a number of fertility specialists who say they routinely get questions about whether they can select for specific cosmetic traits.

Dr. Steinberg’s work in Tinsel Town means that he is well acquainted with such desires. “We get requests for all kinds of things. We had a pop star inquiring if her vocal abilities could be passed on to her children,” and elite athletes asking, “Do you think you could make it a tall boy?”

The thorn in a genetic counselor’s side

As genetic counselors, we will spend the rest of our professional lives explaining that our role does not involve the creation of ‘designer babies.’ This is a professional hazard that we have no choice but to accept.  As frustrating as this perpetual conversation may be, at least right now we have the science to fall back on: We can‘t do that. We don‘t do that.

But, what if? What if the science gets there, and the myth of the ‘designer baby’ becomes a reality?

I’m pretty confident that we will not see a day when parents routinely use reproductive technologies to select for cosmetic traits, or even against multifactorial diseases. The complexity of the genome is too great, and the gene-gene, gene-environment, epigenetic interactions too numerous and minute to control. But, maybe I’m just blinded by my  personal opinions on the matter.

I’d love to hear what others think. Cast your vote and/or share your thoughts below.

*Cosmetic traits being used to describe polygenic phenotypic traits, such as height, eye color, hair color etc.

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Guest Post: YouTube It!

BY JUSTIN LORENTZ

Justin Lorentz is a genetic counselling student completing his second and final year of his MSc at McGill University. Before entering the world of genetic counselling he studied at the University of Waterloo and in 2010 graduated with a BSc in Molecular Biology and Biotechnology. He is a member of both the NSGC and CAGC and has been actively involved in Genetic Counselling Awareness Week since its infancy. Justin manages a Twitter account under geneharbinger which is dedicated to the field of medical genetics and genomics.

As a genetic counselling student it can be tough trying to stay on top of the seemingly exponential learning curve that marks our graduate program. In an attempt to ride this curve I find myself processing and digesting a lot of information about genetic conditions. The strategy I use to make sure this information is absorbed and retained is somewhat multidimensional in that I gather different forms of media to learn the same thing. For example I may look at Wikipedia (you do it too), I read through books, I browse through the literature, print off pictures on Google images, and I have even been known to listen to podcasts.

One day during class, the disorders under the umbrella of Limb Girdle Muscular Dystrophy (LGMD) came up and our lecturer mentioned how a patient’s gait, among many other things, can act as a clue in making a diagnosis. The lecturer was not willing to demonstrate a gait characteristic of someone with LGMD and, after mentally sifting through my usual research schema; I realized I would need to get creative if I was going to actually see this gait.

That night I went home and I typed “Limb Girdle Muscular Dystrophy” into the YouTube search bar and to my surprise I got plenty of results. The main contributor was a user named John71377 AKA John Graybill, a 34 year-old man who has LGMD type 2A. When I visited his YouTube channel here my interest was in his gait, but after watching the first 30 seconds of a video I didn’t care about that anymore. John showed me a little about his life that I would never see in a clinic or read in a textbook. As I sifted through over 30 videos of him demonstrating how he gets out of bed, goes up and down stairs, and how he stands up from a seat, I realized I would never forget about LGMD. To this day I see John when I think of this condition.

John Graybill’s YouTube channel. The current video is a demonstration and description of how John walks. On the left are his other videos that include demonstrations of how John get goes up and down stairs, rises from the ground, etc.

Comments posted in response to one of John Graybill’s videos.

I quickly realized that John’s goal in making his videos was not to show genetic counselling students how he walks; instead it was to help other people with muscular dystrophies like LGMD by sharing tips and advice about how he has overcome his limitations. In addition to his videos he advertises his website he created to raise awareness about LGMD, particularly type 2A. After looking at the comments on his channel, and then watching him on a PBS special I am confident he has been successful.

After “meeting” John, I wanted to see if there were other people who have shared their life with a genetic condition on YouTube. In a matter of seconds I “met” Jim who has myotonia congenita. He posted this video with the intention of educating the public about his condition. He shows how his body reacts when he moves rapidly and he explains how he can overcome the limitations of his condition through stretching. Then I “met” Elliot Adler, a 10 year old boy who has Charcot-Marie Tooth (CMT). With the help of his mom, he created this video raising awareness for CMT. He says that the more people who know about his feet means the better the chances of finding a cure.

Although the intentions of these videos are different, I saw similarities when I looked at the comments written about them. From what I have seen, there have always been comments from other YouTube members who could personally relate to the videos because they had a friend or relative with the same condition or because they have it themselves. Almost every comment provided support, and sometimes members would even network and share email addresses.

It is important to note that the people watching these videos are not just those who can personally relate to them. Furthermore, it is not just people with genetic conditions that are making these videos. Patient organizations such as the Canadian SADS Foundation have harnessed the power of YouTube and create videos like this one to educate the general population, spread awareness, and raise money for research.

YouTube is being used everyday as an educational tool for patient organizations, for patients with genetic conditions, and for the occasional medical genetics practitioner. It might be time for the genetic counselling community to begin thinking about whether there is a place for YouTube in their practice. YouTube videos made by organizations pose many of the same benefits and limitations as websites made by organizations. Personal YouTube videos in many ways are like personal websites, and similar disclaimers may apply if they were ever to come up in a session. But like how reading a book provides a different experience than watching a movie; viewing a website on LGMD will provide an experience that cannot be compared to seeing someone with LGMD move through their house. YouTube can be a powerful resource in this field (for better or for worse).

What information does YouTube have on your field of genetic counselling? It might be good to check it out. I bet some of your patients have done just that already.

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Canadians celebrate 2nd Annual Genetic Counselling Awareness Week

This week (November 20-26) genetic counsellors across Canada will be participating in the 2nd annual Genetic Counselling Awareness Week (see my post on this topic last year.) The theme for this year’s event is centered around dispelling common myths about genetics.

For a 2nd year in a row I am serving as a co-chair for this initiative, and for the second year in a row I am blown away by the amount of work and thought that GCs have put in to ensuring this week is a success.  Even seemingly simple events, such as organizing a trivia night or movie screening, require an incredible amount of planning and coordination. GCs in Canada are taking time out of their busy lives and are volunteering their time and expertise.

I am hoping to put together a follow-up post after this week is over, with a ‘behind the scenes’ look at GC Awareness Week, in the hopes that it might provide some insight and incentive for other countries to follow suit. But for now I will just leave you with some highlights of what is coming up this week:

  • Genetic Counsellors in Edmonton, Alberta and Winnipeg, Manitoba will be featured on local news programs.
  • Groups in St. John’s, Newfoundland and Ottawa, Ontario will each be hosting a trivia night at a local pub. The GCs in Winnipeg are hosting a similarly themed evening, using clips from popular television shows, to help dispel common myths about genetics.
  • Multiple movie screenings will be occurring across the country. Films being screened this year include: In the Family, Extraordinary Measures, GATTACA and At My Mother’s Breast. In most cases, a genetic counsellor panel discussion will follow.
  • Several centres will be setting up information booths within their institution, in order to liaise directly with patients and hospital staff.
  • Rumor has it an Alberta-based group will be putting together a fun-loving You Tube video this year. Click here for last year’s video from GCs at North York General Hospital.

For a full list of events and info, visit the GC Awareness Week website.

Want to help spread the word? Pass along any relevant info to family members and friends who live in Canada, or use the designated hashtags #GCAwarenessWeek #geneticcounselling and #CAGC when tweeting about GCAW or GC-related issues throughout the week.

Image credit: TheFutureisUnwritten (link to image here)

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Genomics and the Social Web: A Timeline

(As posted on www.hernaturehisnurture.com)

I thought I’d share this timeline that I put together recently for a presentation on the social asepcts of genomics. Although clearly not an exhaustive list of events, I still find it interesting to see the major milestones in genomics side-by-side the evolution of the social web.  Not only does this provide a potential explanation for why the genomics industry has developed the way that it has, but it helps to illustrate the relationship between genomics and social media: openness, connectivity, patient autonomy and citizen science.

 

(click on image for larger view)

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Guest Post: What Makes You Who You Are?

By Anne Madeo

Anne Madeo is a genetic counselor who has worked for the National Institutes of Health for the past 11 years.  The views expressed here are her own and do not necessarily represent the views of the National Institutes of Health or the U.S. Department of Health and Human Services.

A few months ago, Bob Resta mused on clients’ responses to queries about ethnicity and what they tell us about the client. A recent conversation on the Nat’l. Society of Genetic Counselors’ listserv about ancestry testing and sex verification got me thinking about a similar issue in a different light.

What defines who we are on a fundamental level? Am I a woman because I wear dresses? Am I a woman because I have two X chromosomes? Am I woman simply because I say I am and that is how I feel on a gut level? Am I a woman if I have two X chromosomes and identify as a female, but I have a point mutation in a gene that increases testosterone production but not so much that in utero or postnatally I have male external genitalia? In the final question we might say that I am clearly female. But in the case of high-level performance athletics, my increased testosterone might provide such an advantage over women with typical human female hormone production that I shouldn’t be allowed to compete as a woman. In a recent decision, the International Amateur Athletic Federation (IAAF) side-stepped the issue of determining somebody’s sex and ruled that if a woman’s androgen levels are within the range of a typical male, she will not be allowed to compete as a woman in IAAF-regulated competitions. Should we should start testing athletes for mutations that predispose them to excel at sprinting and handicap the athletes that have these alleles to make the playing field even?

What about ethnicity or race? Am I Italian-American because I celebrate the Feast of the Seven Fishes on Christmas Eve? Am I Italian American because my paternal great grandparents immigrated here from Italy? Am I Italian-American because I say I am and it is how I’ve been raised and feel? Am I Italian-American because my DNA testing demonstrates that I’m a descendant of both Michelangelo and Leonardo da Vinci? I think most students of genetics would say that no, that last idea doesn’t make me Italian-American. We’re probably all distantly related to some famous individual or the other from the past. I could be Queen Victoria or Genghis Khan’s distant relative. (I doubt many people request testing to see if they’re related to Josef Stalin.)

So, can we use genetics to determine what racial or ethnic group we belong to? Although I usually assume that people with training in molecular or clinical genetics would say no, that’s clearly not always true. The postmodern interpretation of race is that it is a social construct. We determine our race and it is determined for us through family, societal and cultural cues. So, can I identify as Native American if my maternal great great grandmother was Native American and that’s the identity my family has always embraced? It seems that some would say yes, that if your experience is Native American and that is how you identify then you are Native American. But the extreme of the post-modern argument is that I, an individual with no known to me African heritage could claim that I am African-American simply because like most Americans I likely have some African ancestry. What say those who decry postmodernism? The extreme of the position that race and ethnicity are not culturally determined but the result of ancestry is the one-drop rule and the perception that light-skinned multi-racial individuals who identify as “white” are passing.

The obvious answer to all this is that who we are is determined by a complex mix of genetics, family, cultural and individual influences. Which still leaves us with the question—how do we decide ‘who’ or ‘what’ somebody is? Or, is that the right question to ask?

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