Last week, I attended the National Society of Genetic Counselors (NSGC) Annual Education Conference in Boston. Although I attended talks on a variety of subjects, where possible I chose sessions focused on new genomics technologies and associated issues. There were some common threads tying these discussions together beyond ‘genomics’ itself. Here’s a quick summary of some of the things I observed and learned.
1. Secondary, Ancillary, Incidental – Oh my!
It is no surprise that discussions around the use of Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) universally include the question of what to do with the “extra” data—those pieces of information we weren’t looking for, but happened to find. What was surprising are the differences in the terminology we use to describe these extra pieces of data. Jessica Everett, a GC from the University of Michigan Mi-OncoSeq project explained that confusion over this terminology lead her team to decide that they would universally refer to an incidental finding as an unintended piece of information that “falls into your lap” and a secondary finding is extra information you end up finding out, but have to look for.
There are likely some official definitions and designations that already exist here. But it is apparent that we as a GC community currently don’t have a consensus on the nomenclature around this issue.
2. GCs don’t need new skills, but rather need to apply our skills in new ways.
This type of thinking is music to my ears—I love the challenge of applying our skills in new and unique ways. The GC role in pharmacogenomic testing specifically was a sub-theme here. I heard multiple genetic counselors who work in the realm of pharmacogenomic testing say that while they initially believed their role with patients undergoing testing for pharmacogenomic purposes would be minimal, the applicability of our traditional skills and opportunity to provide value to both patients and physicians was far greater than they anticipated.
3. “Scalability” of the Genomic counseling session
The sheer volume of information and amount of time required to consent patients for WES/WGS technologies was routinely cited as a barrier to genetic counseling in the genomic era. In some cases, GCs plan for a 2+ hour pre-test counseling session, and in most cases there are multiple visits or contacts before testing is initiated. There was also alot of discussion about how best to inform patients about the various types of information that can be learned through genome sequencing technologies. Bioethicist Scott Kim (also from the Mi-OncoSeq project) made a good case for a ‘flexible default’ model for informed consent in these situations.
Consistently GCs commented that when asked ‘do you want to know everything?’ patients and research participants will almost always reply ‘yes– of course I want to know everything!’ However, the use of specific scenarios or examples seems to be required in order to elicit a more meaningful discussion about potential results, and what information patients will decide to opt out of receiving. (This is a topic I’ve previously written about.)
Although this may be the least exciting or surprising underlying theme, it is likely the most important. Almost every lecture concluded with a slide highlighting the importance of a collaborative and multidisciplinary approach to genomic testing.
As always, I’d love to hear about others’ reactions and impressions from this year’s AEC. Please feel free to share, below.
For the next few days, genetic counselors from across North America will be descending on Boston for the National Society of Genetic Counselors (NSGC) 31st Annual Education Conference. The program looks great, covering areas from whole genome and whole exome sequencing, new developments in non-invasive prenatal testing and targeted therapeutics, to name a few. We’re also happy to see that the conference will have a strong social media presence this year – which is a great way to keep track of the presentations and conversations if you’re not able to attend.
To get the most up-to-date conference info, follow the official conference hashtag: #AEC2012 via Twitter. You can also check out the #NSGC2012 feed too. We’re also adding a live stream below, so whether you’re there or not, you can stay on top of, and participate in, the conversation. See you in Boston!
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.
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):
- Clinical validity (known disease associated vs. variants of unknown significance)
- 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.
There has been discussion for quite some time about the potential benefits of incorporating genetics/genomics into primary care, however not much evidence exists to support this theory and to date, few initiatives have been taken to determine how best to achieve this in Canada. A recent comment from a patient prompted me to look at this again from a different angle – from the angle of the end user, the patient.
To back up a bit and to provide full disclosure, I am a genetic counsellor working in a private health clinic, where for the last 6 years, I have worked alongside physicians, specialists and other healthcare providers to offer services in the area of prevention and wellness. In this setting, I have had the unique opportunity to see first-hand the impact that genetics and genomics can have on healthcare, related not only to treatment and diagnosis, but also to health behavior. Recently, I was asked to become involved in a case where a patient had asked his Medcan physician about options for genetic testing for a rare disease. His physician and I discussed the case and agreed that genetic testing was appropriate. Although there are some genetic tests that should be preceded by a physical exam by a geneticist, in this particular case it made much more sense for a primary care physician with knowledge of his clinical history to arrange the testing, rather than having the patient referred to a clinical genetics centre.
We were able to quickly obtain family records and prior approval for out-of-country testing. I first met with the patient when he came back for the DNA test and after reviewing the genetic aspects of the disease as well as the risks, benefits and limitations of testing, I walked him to the lab to have his blood drawn. It was at this time that he commented on his surprise at not only the quick response to his request for testing, but also the fact that we (as a team) had knowledge of the condition and were able to grant a request for testing. He had done a lot of research on his own about the condition and had requested this genetic test several times with his primary care doctor, but was denied due to (in his opinion) the physician’s lack of understanding of the condition, the potential benefits of genetic testing and how to access the test itself.
His comments really brought to light the benefits of having a genetic counsellor working alongside a primary care doctor. As we know, this will become even more important as the field moves from identifying genetic mutations that cause rare diseases to the wide use of genomics in predicting common disease risk and pharmacogenomic responses. And while I’ll be the first to admit that there has been reluctance to adopt this approach, even from the team of physicians that I work closely with every day, I do feel as though I’m helping to shift their view of genetics and genomics by having my practice alongside theirs.
Although the setting in which I work is somewhat unique, I think there are opportunities for genetic counsellors to improve healthcare and healthcare delivery on a broader spectrum. Of course, the question that we all struggle with is how to best incorporate the delivery of genetic services in a traditional primary care setting?
A number of limitations have been highlighted, including the lack of physician knowledge and training in genetics and the limited number of qualified genetic counsellors, to name a few. In Ontario, there are already a number of regional Family Health Teams that employ physicians, nurse practitioners, social workers, dietitians and pharmacists, all working together to help optimize patient care. It seems to me that having a genetic counsellor support one or several of these teams would be highly beneficial. In the case of my patient, at least, he would have been able to access the genetic testing he required much more efficiently had his primary care physician been able to collaborate with a genetic counsellor directly.
What happens when you get a group of bright and accomplished people in a [virtual] room and ask them to tell you the biggest challenge facing personalized medicine in Canada? They answer your question, and give you more: potential solutions. If you didn’t get a chance to read through the series last week, you can find the links to all of the published commentaries here.
The diversity of backgrounds and opinions represented from the guest contributors provides an insightful look at this very complex issue. In an attempt to summarize the outcomes of the series, we’ve put together a visual representation of the topics covered, and more importantly the solutions presented. Trends we see:
- Strong leaning toward putting the onus on medical professionals, whether it be engaging the general public, industry or each other.
- Collaborative models, including health and non-health professionals.
- Focus on industry: creative, market-driven approaches to healthcare issues (privacy, data collection & storage, development of new technologies) with a requirement for proper and timely reimbursement.
While it is easy to focus on the areas where the contributors overlap significantly, it is equally interesting to pay attention to the negative spaces. Is there anything you’d add to this graph/discussion? Things that you’d change? Share your thoughts here, and we’ll can update as we go.
(Click on the image to enlarge)
This post is part of the guest commentary series: What is the biggest challenge facing personalized medicine in Canada? _________________________________________________________________________
Kathy Siminovitch, MD, FRCPC
Dr. Katherine Siminovitch is a geneticist who studies the molecular mechanisms underpinning development of immunologic disease. As a Senior Investigator at the Samuel Lunenfeld Research Institute of Mount Sinai Hospital, Dr. Siminovitch aims to provide new knowledge and technologies enabling more efficacious and “individualized” therapies for major immunological diseases. Dr. Siminovitch is a Professor of Medicine at the University of Toronto and serves as the Director of the Lunenfeld’s Genomic Medicine Program and the Fred A. Litwin Family Centre of Genetic Medicine at Mount Sinai Hospital, and the University Health Network (UHN). She also directs the UHN Gene Profiling Facility and the Toronto General Research Institute Genomic Medicine Division. Link to complete bio here.
Progress in genomic science has created unprecedented opportunity to develop the diagnostic and outcome predictive markers required for individualized, more effective medical care. However, a very significant gap exists between clinical genomics discovery and its translation into effective personalized medicine. There are many reasons for this gap, but a particularly important one stems from the persistent use in healthcare of archaic informatics technology. While the rapid emergence and ubiquitous adoption of mobile digital devices and social networking tools in the world outside of the healthcare system has been nothing less than extraordinary, the healthcare system seems to have existed in a bubble, almost frozen in time. The continued widespread use of paper for medical charting and prescribing and of telephones and fax machines for appointment bookings and referrals, aptly reveal how out of sync our healthcare system is with the breathtaking pace of informatics progress and genomic discovery that are driving innovation and societal change.
An operational model for personalized healthcare demands the capacity for real-time electronic capture of health data. It is not realistic that an effective model can exist in the absence of informatics frameworks for integrating all health data – from clinical to imaging to large-scale genomic/proteomic datasets. Genomics-based personalization of medical care certainly requires next-generation decision-making tools that guide healthcare workers in bedside application of highly complex information.
The informatics bottleneck in healthcare reflects many factors, not the least of which are the often highly bureaucratic and regulatory aspects of the healthcare system, the lack of shared vision among its providers and users and the consequent use of a top-down, often non-adaptable and unresponsive “eHealth”-type approach. Knowledge of medicine and of healthcare system operations are also not as intuitive as Twitter-enabled social connection. This limit in population understanding of its workings also makes the healthcare system less subject to market force pressure. To realize the promise of personalized medicine, a from the ground-up, market-driven iHealth model is needed, whereby those most familiar with the practice of medicine entice those most skilled in IT delivery to provide contemporary, creative informatics solutions for healthcare. To translate the enormous global effort in genomic sciences to a personalized and better healthcare system, the ingenuity and vision that delivered Google, Facebook and the panoply of iDevices must first be translated into the healthcare paradigm.
This post was submitted as part of the guest commentary series: What is the biggest challenge facing personalized medicine in Canada? _________________________________________________________________________
Lea Velsher, MD CM, FRCPC (pediatrics), dipABMG
Dr. Velsher is a Fellow of the Royal College of Physicians of Canada, a Fellow of the Canadian College of Medical Geneticists, and a diplomat of the American Board of Medical Genetics. She is currently on active staff at North York General Hospital and a lecturer at University of Toronto. Dr. Velsher is active in the OMA, the Northern Regional Genetics Program and is a consultant for Medcan Clinic, the Familial Colon Cancer Clinic at Toronto Sunnybrook Regional Cancer Centre.
There exists an interesting dichotomy in society today: those who have seemingly unrealistic expectations for what genomics can and will achieve, and those who undervalue the current usefulness of genomics in medicine. What we need most in this era of genomics and personalized medicine is a healthy dose of level-headedness, open-mindedness and education—we need to close the knowledge gap.
The field of clinical genetics developed around the diagnosis and assessment of single gene disorders and chromosomal abnormalities. It is not surprising that dealing with genomic variability as it contributes indirectly to disease susceptibility doesn’t easily fit into this paradigm. The clinical genetics world has been slow to embrace genomics and its potential usefulness in the clinical setting.
Personal genomics fits well with clinical practice in other specialties. The information from a genomics assessment can be added to existing risk algorithms for common conditions such as coronary artery disease. The concepts involved are common to medicine in general. However, the science and the data are new and education in genetics is limited in medical school, residency training and continuing medical education programs. There is limited genetics teaching for allied health professionals who provide primary or supportive care, such as midwives and nurse practitioners.
We need to find ways to ‘teach the teachers’ about genetics and how the new technology and new information from genomics can be integrated into medical practice. The integration of genomics into medical practice will then become part of the routine curriculum for physicians and other health care providers.
As genetics professionals we need to engage the general public in order to foster an understanding of the value and the limitations of genomics and personalized medicine. I’d point to the Ontario Genomics Institute (OGI), which has a wonderful outreach program dedicated to connecting with students and the general public on this very subject.
We need to look at ways to bring genetic literacy to the general public on a basic level. Just as children are taught about anatomy and health in grade school, they should also be introduced to the concepts of cells, genes and DNA. We should encourage accurate and balanced reporting on genetic issues in the media and on popular programs that feature medical or health topics.
There are a many challenges facing personalized medicine in Canada. It will gradually become part of routine medical practice. This will happen faster in a community of well-informed health care providers and educated patients. The challenge for us in the field is to find effective ways to make this happen.
This post was submitted as part of the guest commentary series: What is the biggest challenge facing personalized medicine in Canada? _________________________________________________________________________
Yann Joly, DCL
Yann Joly, Ph.D. (DCL), is a Lawyer and an Assistant Professor at the Faculty of Medicine, Department of Human Genetics at McGill University, as well as a research fellow from the Fonds de la recherche en santé du Québec (FRSQ) and a researcher at the Centre de recherche en droit public (Université de Montréal). He also works as an ethics and legal consultant in the private sector. Prof. Joly’s research activities lie at the interface of the fields of intellectual property, health law and bioethics. Link to complete bio here.
Personalized medicine is not a sprint, but a relay
Direct-to-consumer (DTC) genetic testing refers to testing (typically offered online) directly to the consumer and generally in the absence of a qualified healthcare provider. The current association that is often made between personalized medicine and private DTC online genetic testing services could be detrimental to this emerging medical discipline. The DTC experience is also informative as to the challenges personalized medicine could face in the coming years. In the model presented by DTC, a vast quantity of genetic tests is provided to the consumer, often without proper efficacy or quality checks or the use of a qualified intermediary (e.g. geneticist or genetic counsellor). What often results is a consumer bombarded with personal genetic information without the necessary preparation or knowledge to weigh its significance or to use it for meaningful health choices. Consequently, DTC could be both a cause of personal anxiety for patients and a source of unnecessary logistical and financial burden for healthcare professionals if these patients start bringing their “results” to the medical clinic for interpretation. It should also be noted that there is no guarantee that these “results” are anything other than conjuncture since validity is often questionable.
The lesson to be learned from DTC is that without planning, education, and the development of proper checks and balances, personalized medicine could achieve the opposite effect predicted by its proponents. Instead of empowering patients and promoting a more rational and efficient healthcare system, it could become a source of unnecessary anxiety for patients and an administrative nightmare for practitioners. If it is to have any chance of success, personalized medicine will have to be introduced gradually in the healthcare system. Science (e.g. a greater number of validated, useful tests), technological developments (e.g. security mechanisms to protect patients’ health data), and professional education (through university or professional development courses) will need to have reached a sufficiently high level to ensure a smooth, secure integration of personalized medicine into our healthcare system. Personalized medicine is not a sprint, where one has to be the first to develop a clinical product, but rather a relay, where all actors will need to be ready to carry the research and development baton in synch in order to efficiently contribute to the common goal of clinical translation and positive health outcomes.
Stephen W. Scherer, PhD, FRSC
Dr. Stephen Scherer is the Director of the McLaughlin Centre and The Centre for Applied Genomics, affiliated with both the Hospital for Sick Children and University of Toronto. Dr. Scherer leads one of Canada’s busiest laboratories. His group has discovered numerous disease susceptibility genes and most recently has defined CNV and other genetic factors underlying autism. He collaborated with Craig Venter’s team to decode human chromosome 7 and to generate the first genome sequence of an individual. Link to complete bio here: http://www.tcag.ca/scherer/
In my opinion the biggest challenge facing personalized medicine (what I prefer to call genomic medicine) in Canada will be time demands imposed on health care workers and professionals. The cyclical nature of personalized or genomic health investigation is driven by a constant flow of questions and knowledge between medical practice and research (both ‘bench to bedside’ and ‘bedside to bench’). In such a model, investigation guides informed medical questions, which yield solutions that feed back to individuals, families and populations in a natural progression, and which have an impact on health. Such progress may be constrained, however, simply by the sheer time it will require to deal with the thousands needing the ‘new care’. There will also need to be significant collaboration with scientists and cross-disciplinary health consultation, which currently only (partially) exists in well-endowed teaching hospitals and medical schools.
To meet these demands it is likely that the health care system as a whole will have to change. I suppose, there will be an immediate need for educational tools to transfer the vast amount of knowledge to health care providers. Moreover, a new generation of technologists and genetic/ genomic counsellors will need to be trained to interpret the new genome-wide and health-related datasets. Furthermore, there will be a requirement for the development and implementation of health information tools, such as electronic capture and filtering, to facilitate the collection and interpretation of medical histories and outcomes. Finally, the general education of the public will also have to be elevated so they can actively participate in the necessary informed decision-making around their own health. The practice of medicine is already moving in the direction of a personalized paradigm, but the pace is slow and incremental, one patient at a time. The time spent on each patient will increase, which is good for the patient, but probably not so good for the current system.
This post was submitted as part of the guest commentary series: What is the biggest challenge facing personalized medicine in Canada? ____________________________________________________________________________