Category Archives: Allie Janson Hazell

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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Why We Love Genetics: A Group Post by The Staff of The DNA Exchange

We suspect that many genetic counselors out there got hooked on genetics by an intriguing bit of information, something that grabbed your attention and made you say “Hey, that’s pretty cool. I want to learn more about this field.” Sure we all want to help people and be good counselors, but the intellectual stimulation of the complex field of genetics also plays a critical role in keeping the spark in your career relationship.

So, in a slightly belated Valentine’s Day posting, we wonks and nerds here at the DNA Exchange (well, there is no “here” here, just 5 of us who email back and forth on an irregular basis) decided to provide some Genetic Factoids that caught our fancy. They include the profound, the moving, the questionable, the near sensationalist, and some gee whiz stuff. Be stimulated by them, have fun with them, and in the Comments section, share your fave facts about genetics with our readers.

 During the course of mammalian evolution, the RNA of  retro- and other viruses have become integrated into host genomes, thanks to that clever devil of an enzyme, reverse transcriptase. Currently about 8% of the human genome is derived from these viruses. And these are not just inconsequential inert bits of DNA. Some viruses play a critical role in mammalian biology. For example,  the HERV-W retrovirus plays an important role in placental physiology, and, by one estimate, 0.4% of human genetic diseases are the result of insertions of Alu elements of retroviral origin. On top of that, about 90% of the cells in the human body are not actually human, as we are inhabited by a large populations of bacteria and other microbes (biology makes for strange bedfellows). Among other things, this calls into question just how much we are defined by “our” DNA, as well as  how we delineate the borders between species. It also makes me smile about our growing obsession with germophobic practices. (Horie M, et al. Endogenous non-retroviral RNA virus elements in mammalian genomes. Nature , 2010, 463:84-7Ryan F.  Human endogenous retroviruses in health and disease: a symbiotic perspective. J R Soc Med, 2010, 97:560-5.Katzourakis A, Gifford RJ. Endogenous viral elements in animal genomes. PLoS Genetics, 2010, 6(11):e1001191)

♥ The largest mammalian gene family has nothing to do with placentas, fur, intelligence, or  behavior. Instead,  the award for body system with the most DNA devoted to it goes to the olfactory system. Three percent of the human genome codes for olfactory receptors, more than the combined total of genes devoted to immunoglobulin and T-cell receptors. The smell of love is in the air, we have the genes to help us detect it, and Chanel takes advantage of that. (Shepherd GM  Neurogastronomy: How the brain creates flavor and why it matters. 2011.  Columbia Univ. Press)

 During the early 1990s, two out of three of deaths among men with hemophilia were the result of AIDS related complications, the majority of which were young men who had acquired the virus during transfusion treatments. In 2009, about half of all people diagnosed with hemophilia in the United States were infected with the Hepatitis C virus. One disease’s cure is another disease’s cause (vide infra, PKU) (Committee Reports, 111th Congress (2009-2010), House Report 111-220, Departments of Labor, Health and Human Services, and Education and Related Agencies Appropriation Bill, 2010.;  Soucie JM et al. Mortality among males with hemophilia: relations with source of medical care. Blood. 2011. 96:437-42.)

♥ In the United States in 2009, there were as many babies exposed to maternal PKU as there were babies born with PKU. Given the inadequate funding for follow-up of patients who have genetic diseases detected by newborn screening and the potentially harmful effects of maternal PKU, the benefits of PKU newborn screening in preventing developmental disabilities hang in a delicate balance. It also makes one wonder what surprises the law of unintended consequences holds for expanded newborn screening (vide supra, hemophilia). (Resta R (2012) Generation n + 1: Projected Numbers of Babies Born to Women with PKU Compared to Babies with PKU in the United States in 2009. Am J Med Genet (in press).)
 

 A study of 194 DNA exonerations of criminal convictions found that witness/victim misidentification was a factor in 75% of wrongful convictions. False confessions were obtained in 30% of the cases, and jailhouse/government informants played a role in 22% of false convictions. Invalid forensic science testimony played a significant role in wrongful convictions, including serology (38% of cases, mostly blood, saliva, semen, and vaginal fluids), hair comparisons (22%), fingerprinting (2%), and bite mark analysis (3%) (And CSI make it look so easy and objective). Of exonerees, 58% were African American, and 43% of crimes were classified as cross-race (i.e., a perpetrator of one race committing a crime against a victim of a different race). DNA  plays a critical role in the legal system. Still, I am shocked by proposed state laws that require collecting DNA at the time of arrest (not at the time of conviction). (Hampikian G, et al.  The genetics of innocence: Analysis of 194 US DNA exonerations. Ann Rev Genomics Hum Genet. 2011. 12:97-120.)

 About 8-9% of dizygotic twins are the result of more than one coition and 1/400 dizygotic twins born to married white women in the US are bipaternal. Some people are very romantic. ( James WH. The incidence of superfecundation and of double paternity in the general population. Acta Genet Med Gemellol (Roma).1993. 42(3-4):257-62.)

 Elizabeth Taylor’s thick eyelashes were the result of a mutation in FOXC2, which can cause lymphedema-distichiasis syndrome (though she did not appear to have “photo”-phobia). (Elizabeth by J. Randy Taraborrelli, Grand Central Publishing, 2006).

♥ Because of a mutation and in-breeding, the town of Sao Pedro, Brazil has a 10% rate of twinning. Most of the twins have blue eyes and blond hair, which had raised suspicions that the unusual number of twins was the legacy of some peculiar science experiment by German ex-pat in hiding Josef Mengele (Nazi ‘Angel of Death’ Not Responsible for Town of Twins,  New Scientist, January 27, 2009).

 Levels of gene expression for genes involved in fighting infection are lower in people who are lonely, according to researcher Stephen Cole (Ah, yes, but the lonely suffer less from heartache).(Cole S. et al., Social regulation of gene expression in human leukocytes. Genome Biology, 2007, 8:R189).

 In a study by Muscarella and Cunningham, males and females viewed 6 male models with different levels of facial hair (beard and mustache or none) and cranial hair (full head of hair, receding and bald). Participants rated each combination on 32 adjectives related to social perceptions. Males with facial hair and those with bald or receding hair were rated as being older than those who were clean-shaven or had a full head of hair. Beards and a full head of hair were seen as being more aggressive and less socially mature, and baldness was associated with more social maturity.Of course, social maturity is very difficult to measure in men. (From: http://en.wikipedia.org/wiki/Baldness; Muscarella, F. & Cunningham, MR. The evolutionary significance and social perception of male pattern baldness and facial hair. Ethology and Sociobiology, 1996, 17 (2): 99–117. doi:10.1016/0162-3095(95)00130-1).

 If you were to recite the ATCG sequence in your own DNA (which is 3 billion bases pairs long) and uttered 100 ATCG sequences per minute without taking a break for sleeping, eating, or drinking, you would speak for 57 long years. Not so helpful for maintaining close relationships.

 1000 cell nuclei could be squeezed into a period mark at the end of a sentence. (http://www.geneplanet.com/the_abcs_of_genetic_analysis/interesting_genetic_facts)

 A report in Scientific American in late 2011 looked at the websites that were most commonly linked to by science-lovers on Twitter. There are several flaws inherent in the “study design,” but regardless it is interesting to note that Genetics and Astronomy were very closely linked: meaning people who linked to Astronomy articles & content were more likely to also link to Genetics content and visa versa (Hey there Genetic Counselor, you with the stars in your eyes). Other interesting correlations included Physics and Fashion as well as the fact that Chemistry appeared to be an outlier, not being linked to any other science.
In terms of heritability versus shared environmental effects, genetic factors account for 50-64% of an individual’s right-wing authoritarian attitudes with 0-16% due to shared environmental effects, while genetic factors account for approximately 54% of an individual’s extraversion, 49% of their conscientiousness and 57% of their openness with no appreciable shared environmental effects. (Bouchard TJ. Genetic Influence on Human Psychological Traits. Curr Dir Psychol Sci. 2004;13(4):148-51.)

 And, of course, let us never forget The Jumping Frenchmen of Maine.

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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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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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