Feature Stories

The gene codes for a protein in the membrane of the cardiac cell, but its function is currently unknown. What is known is that a mutation in this gene is responsible for ‘arrhythmogenic right ventricular cardiomyopathy’, or ‘ARVC’ a deadly genetic heart condition highly prevalent in Newfoundland and Labrador – most often in men under 50. This gene mutation causes fibrous, fatty tissue to replace healthy heart cells, interfering with the heart’s electrical current. In effect, the heart “short circuits”, causing a potentially lethal heart rhythm.

The gene discovery was made by a team of researchers working on the Genome Canada-supported Atlantic Medical Genetics and Genomics Initiative (AMGGI), co-led by Memorial University’s Terry-Lynn Young and the University of Montreal’s Mark Samuels. Up until this discovery, there was no way of diagnosing the condition definitively. For decades, medical practitioners in Newfoundland had been scratching their heads trying to figure out why seemingly healthy individuals were suddenly dying of heart failure.

AMGGI was launched in July 2006 as a four-year, $9.3 million project to ascertain, collect and molecularly characterize 25 to 30 new single-gene or ‘monogenic’ disorders in Atlantic Canada.

Monogenic disorders can be passed on to subsequent generations with a relatively high degree of predictability. Over 4000 human diseases are believed to be caused by single gene defects, such as AVRC, polycystic kidney disease, cystic fibrosis, and hereditary deafness. Atlantic Canada’s population has tended to be quite homogeneous – particularly in small communities where families have remained for many generations. For this reason, it’s considered ideal for research that can identify genetic traits and trace inherited diseases, such as those caused by certain monogenic disorders.

But the AMGGI project goes beyond identifying genes and genetic mutations. As part of a commitment to facilitate knowledge transfer to the health care system, the team is also implementing research results at the clinical level. For instance, as a result of the ARVC discovery, Newfoundland is taking steps to make genetic screening and diagnosis for this condition more widely available. Affected patients are notified and offered the option of having a heart defibrillator implanted as a preventative measure to halt the deadly effects of the disease. 

To implement these and other genetic services based on their research results, AMGGI has mobilized an integrated team of experts with a range of knowledge and skills, including clinical ascertainment, gene discovery, genetic diagnostics, genetic counselling, community outreach, health economics and bioethics.

As AMGGI identifies more gene mutations at the root of certain monogenic disorders, difficult decisions will need to be made based on ethical, legal, cultural and socio-economic considerations before new screening diagnostics and treatment interventions can be adopted. To help address some of these questions, a GE³LS component was developed to systematically evaluate the impact of new genetic information on patients, health care workers, and the Canadian health care system. The goal is to facilitate ethical, effective and efficient uptake of genetic services.

“From a GE³LS perspective, we have to figure out how to assess the barriers – economic, social, and ethical – to the implementation of genetic services,” comments Dr. Daryl Pullman, a philosophy professor at Memorial who, along with colleague and medical anthropologist, Dr. Fern Brunger, developed an integrated GE³LS program for AMGGI.

The integrated AMGGI GE³LS team is examining the values, beliefs and practices of physicians and genetic counsellors who are the potential providers of genetic services, as well as those of patients, families and communities who are the recipients of such services. Team members are assessing the genetic burden of disease at a variety of levels (personal, community, provincial, federal) and along a number of dimensions (ethical, legal, psychological, sociological, and economic) in populations who carry various gene mutations. They are focusing on four of the single-gene disorders being studied by the scientific team: ARVC, heredity blindness, hereditary deafness, and colorectal cancer.

For instance, on the colorectal cancer front, the team began by interviewing families affected by the cancer to find out more about their experiences and frustrations.

“We explored how they live with the disease, and the challenges they face in accessing appropriate genetic testing and screening procedures. We also explored how knowing you have a gene that makes you susceptible to this type of cancer will change behaviour. Will people continue to go in for screening? What will happen in families when one person is determined to have the gene and another member is not?” asks Pullman.

The team also examined the clinical choices and practices of physicians who provide colorectal screening, such as surgeons and gastroenterologists.

“Demand for screening currently outstrips supply, so we looked at whether physicians used family history of colorectal cancer as a reason to provide screening, or if they tended to give priority to those over 50 years of age. What do they see as barriers to screening?”

A third component of the integrated GE³LS research is an economic analysis of potential cost savings to the health care system if genetic testing for colorectal cancer is provided. It’s expected that knowledge gained about colorectal cancer as a case study can eventually be applied to other monogenic disorders.

Pullman’s involvement with the AMGGI project stemmed from a longstanding relationship with genetics researchers at Memorial.

“I started working on various genetic-related projects when I came to Newfoundland ten years ago, and so I had already worked closely with a number of the AMGGI researchers. That’s one of the advantages of being in a small place.”

Initially, the scientific co-leads asked Pullman to review their scientific proposal, which was a sizable document, and identify GE³LS issues with the goal of developing an integrated GE³LS component.

“Rather than write a single, discrete GE³LS section, I asked them if I could identify GE³LS issues within relevant sections of the scientific proposal itself, to which they agreed. So Fern Brunger and I noted where there were potential issues – ethical, social, economic, and policy-related – throughout the proposal. It really set the tone for how integrated the GE³LS research project became. When the proposal went out for scientific review, we received positive feedback with regard to the GE³LS – reviewers saw the GE³LS component as a truly integrated part of the project, and not an afterthought,” he says.

At first, according to Pullman, the scientific teams and GE³LS teams met separately. But as the project got underway, they soon realized the benefits of meeting together, so they could all benefit from shared information.

“We’ve been learning about different aspects of the project from each other. As GE³LS researchers, it’s very useful for us to hear from geneticists – to understand the challenges and frustrations of doing that kind of work. For their part, along with running assays in the lab, genomics researchers are getting to know families affected by some of the diseases they study and coming to understand some of the broader societal implications of their work. It gives them a different perspective as well,” Pullman concludes.

They came in just about every conceivable form. Some tall, others short. Some stocky, some slim.

More than 20 of these ‘models of diversity’ were put on display at Montreal’s Complexe Desjardins last year as the embodiment of Quebec’s genetic diversity. The display was part of “My genes are unique: Pharmacogenomics”, an event conceived to help people better understand and discuss the new field of pharmacogenomics, which uses a patient’s genetic information to help predict his or her responses to medication.

When it comes to drug response, we are all different. These differences can account for why some patients respond favourably to a drug, why some don’t – and, worse yet, why some experience adverse drug reactions (ADRs). ADRs are a leading cause of hospitalization and mortality in Canada, the United States and Europe. Pharmacogenomics holds the promise of more effectively forecasting patient response to treatments, with an eye towards selecting the most effective drugs and mitigating against ADRs.

The public event, comprising a kiosk and a mini-conference about pharmacogenomics research, was convened as part of a larger Genome Quebec/Genome Canada Competition III project, “Pharmacogenomics of Drug Efficacy and Toxicity in the Treatment of Cardiovascular Disease”.  Principal Investigators (PIs ) on the scientific project, Jean-Claude Tardif and Michael Phillips, are investigating drug response problems in the management of cardiovascular disease – coronary heart disease, congestive heart failure, hypertension and stroke – hoping to determine how patients will respond to treatments for cardiovascular disease using their genetic profiles.

Integrating Ethics and Science

The project’s scientists recognized early on that, given the novelty of the pharmacogenomics field, many societal issues remained unexplored. While still in the process of developing their research project, they sought the early integration of ethical, legal and social aspects into their scientific realm. They approached Denise Avard and Yann Joly to develop an integrated GE³LS component.

“Michael Phillips, the Project Co-PI, approached us initially,” says Joly. “He had seen some of our work and knew that we had the expertise on the social science and legal/ethical side. From the start, we had complete freedom to develop our integrated project. We had input into the grant writing process, and we sat in on all the meetings.”

Working as part of an interdisciplinary team is not without its challenges, but the team nevertheless managed to surmount all difficulties. “It was sometimes challenging to communicate with such a diverse group, which included scientists from different academic fields,” remarks Joly. “But we each learned to adapt the information in order to communicate it more effectively. It helped that we were invited to go to all the project meetings to inform the other researchers about recent ethical and policy developments, and find different ways to present our information to them. It’s really a question of attitude: we all wanted to work together, so we figured out a common language.”

“We also sometimes found it challenging to remain aware of any new scientific developments,” adds Avard, “because we were not working on-site and so didn’t have the benefit of close proximity, but we worked hard to keep the lines of communication open.”

Developing Informed Consent in Pharmacogenomics

Avard and Joly proposed to explore policy issues surrounding informed consent that are specific to pharmacogenomics research. Their goal was to enhance both the informed nature of prospective consent and the protection of participants’ rights. They wanted to investigate issues of access to stored tissues, confidentiality and coding, and mechanisms of conveying information to research participants.

“We’re helping to develop consent forms that would be used by the project’s research participants,” explains Joly, “but we found that there were really no guidelines. Because it’s a novel field, it tends to be assimilated within the field of genetic research. We asked ourselves, ‘What are the key differences between other kinds of genetic research and pharmacogenomics research?’”

To help answer that question, the pair has proposed consultations with policy-makers, scientists, ethicists and other stakeholders and are now in the process of developing a “Points to Consider” guidance document. Scientific co-PI, Jean-Claude Tardif, is planning to speak at these consultations. His participation “will help open the event, create a genuine partnership and help bind our team,” notes Joly.

Building interest in pharmacogenomics

“The process of translating this knowledge to raise public awareness and inform policy development for pharmacogenomics is critical,” says Avard. “Launching events such as ‘My genes are unique: Pharmacogenomics’ and close consultations between the interdisciplinary GE³LS team and the policy-making community are integral parts of this knowledge transfer.”

Ultimately, Avard and Joly’s mutual goal is to ensure that the consent process in pharmacogenomics is carried out in an ethical manner. The achievement of this goal, they believe, hinges on raising awareness about this new discipline amongst policy makers, as well as the public.

To read more about Avard and Joly’s integrated project.

---

All research activities will be archived on the HUMGEN Website.

What if, in the course of studying a specific disease, a researcher finds a genetic mutation associated with that disease in a tissue sample provided by a study participant? Or what if the researcher finds some other genetic variant completely incidental to what he or she set out to look for? Should the researcher disclose the finding to the study participant?

As it turns out, this seemingly simple question has no simple answer. How researchers proceed depends on a number of considerations, which include the clinical accuracy and validity of the test results – itself a contested question– as well as the nature of the disease in question, whether or not it can be treated, and the participant’s right to know or not know. Does the information provide clear direction for action or carry with it some uncertainty? 

“For the last five years or so, we’ve seen a growing body of literature that supports sharing more individual-level information with study participants,” comments Béatrice Godard, a bioethicist with the Université de Montreal. “Typically what happens now is participants might be offered access to general research results – sometimes they’re given a contact number in case they want to find out more about published scientific data – but not individual results.”

Along with her team, Godard is analyzing the ethical implications of sharing genetic research results with study participants, as part of a GE³LS project integrated with “Identification and Characterization of Genes Involved in Common Developmental Brain Diseases”, co-led by Guy Rouleau and Pierre Drapeau in Québec.

Godard and colleagues surveyed families who had given blood samples as part of an earlier research project on autism led by Rouleau. The anonymous survey asked participants if they would have wished to receive individual genetic results as part of the study and, if so, why they wanted the information and what they would have done with it. (The questionnaire made it clear that these were theoretical questions since no individual results from the study will be shared.)

An overwhelming majority – 98 percent – indicated they would have wanted access to their family’s individual research results.

“I was really surprised by that number,” says Godard. “In the literature, typically only about 30 percent want to know their individual results. But you do have to look at what’s being studied. If it’s related to Huntington’s disease for instance, the potential for individual results to cause psychological distress to people is higher than for autism because the consequences could be more dramatic. With Huntington’s, for instance, we know that carrying the gene will inevitably cause the individual to suffer from the debilitating effects of this untreatable disease. So fewer people might want to know their individual results for this disease.”

“The other salient factor is that parents typically want information that could concern their children; they feel a sense of responsibility toward them, and having [their family’s genetic test results for autism] gives them hope that they could do something about this condition in the future.” This is particularly so in cases where the parents can seek a confirmed clinical diagnosis and access support services that can help their child in a timely manner.

Godard was equally surprised by the finding that study participants would have wanted to receive individual genetic test results even if they were negative, and that the preferred method of receiving such information was by letter, rather than in person or over the phone.

“Sometimes we assume people want to find out results face-to-face, or that they want counselling, but in this survey, people clearly told us they didn’t.”

According to Godard, the desire to know more about one’s individual genetic information is “part of the general movement against paternalism in medicine and research, and a sign of reciprocity between researchers and study participants.”

Godard found that some study participants feel research is too one-sided and that they don’t get enough back. “Many survey respondents expressed a feeling of being ‘used’. They said, ‘many times they ask us to give a blood sample, but when it comes time to give information to us, nobody is there, or they don’t want to give us certain information in order to protect us’.”

“More and more, we are recognizing the autonomy of the person. If someone is able to understand why you’re doing research on the genetics of autism, for example, they’ll probably be able to understand the information you provide at the end of the research.” Godard, who sits on numerous research ethics boards and committees, hopes her study will help inform researchers’ decisions about whether or not individual genetic results should be shared with participants in future genetic studies.

Two other integrated GE³LS projects, both based in Ontario, are exploring similar questions – so similar, in fact, that the two GE³LS researchers decided to combine efforts.

Although no funding dollars are being pooled or shared, Fiona Miller and Robin Hayeems, both from the University of Toronto, examined participant attitudes on the return of individual genetic research results in the context of a large-scale study on autism led by Stephen Scherer and another on cystic fibrosis (CF) co-led by Peter Durie and Julian Zielenski.

The pair then decided to collaborate and examine the same question, but from the researcher’s perspective. “Instead of just pursuing how study participants feel about sharing results,” says Hayeems, “we decided to explore researchers’ attitudes and decision-making processes on this issue since we felt that the obligation of disclosure should not only be a function of what participants desired.” 

“The collaboration gives us an ability to do a comparative case study on two different conditions, autism and CF,” explains Hayeems. “It has created a nice synergy and an ability to more robustly explore the influence of context on research findings. It seemed like an opportunity to achieve greater statistical power and impact.”

Initially, Hayeems conducted a pilot survey with families involved in the CF study, to get a “pulse” of how they felt about receiving results.

“I wanted to use a real live example. The CF research study had recently published a new finding in a scientific journal, which had also been announced through a press release. I used that example to get a sense of the families’ expectations of what information was owed to them by the researchers and gauge how families were interpreting what had been disclosed.”

In the pilot survey, Hayeems found that most families held a “high expectation of what information they should receive from researchers”.

But according to Hayeems, it’s not only families who expect researchers to share individual information; there’s also a “heightened interest among some researchers themselves to give participants more information as a way of reciprocating for time spent participating in a study”.

“One phenomenon we observed in Fiona’s preceding work in the autism context is that, in some cases, research mimics clinical care. The instinct – particularly of clinician-researchers – is to provide information to their patients. This begins to blur the boundaries between their role as researcher and as clinician. Add the fact that clinical services are lacking in certain areas, particularly in the case of autism, and you find researchers increasingly wanting to help the families they’re studying. But that may not be a responsibility researchers can adequately assume.”

To understand more about which factors seem to be driving researchers’ decisions to disclose, or not disclose, individual information, Hayeems and Miller designed a survey aimed at international researchers. The pair has finished collecting survey data, and, according to Hayeems, are “right in the thick of data analysis”, which they expect to complete in the coming months.

“We’re interested in exploring the nature of this emerging sense of obligation to share results with study participants. The argument that all research findings should systematically be reported to study participants may perhaps be ignoring the context. Numerous factors could influence a researcher’s decision-making, including the clinical significance of findings, the nature of services in their jurisdiction, the nature of their relationship with the participant, how robust the findings are, and if they’ve been replicated.”

Hayeems suggests that when research data are uncertain, researchers could still fulfill their responsibility to communicate with study participants via general newsletters highlighting research progress and providing updates of recent developments in the field.

“If scientific research results are provisional, or in an infancy stage of understanding, it may be inappropriate to share them. The wish to respect a person’s autonomy may not be enough to warrant systematic disclosure of all individual research results.”

---

Returning individual genetic results to study participants is a highly complex question that depends on many different considerations, including:

• What is the clinical accuracy, validity and utility of the genetic test conducted for research purposes? Is it as technologically and scientifically robust as that which would be carried out in the clinical context for diagnostic purposes?
• What is the degree of certainty or predictability that the identified genetic mutation will cause a known condition or disease?
• Is the researcher, or member of the research team, qualified to make such diagnostic determinations? Is the mutation related to the very aim of the study in which the researcher likely has some degree of specialization or is it a completely incidental finding for which the researcher has no interpretative expertise whatsoever?
• What is the nature of the condition or disease? How significant are its health or reproductive implications for the individual and/or their family?
• Is it something that the individual, if told, could still do something about in a timely manner to their benefit? Or is it information about a late-onset or fatal disease for which there is no known cure or treatment? Even if there is no possible intervention, is it something the individual would want to know about in order to prepare themselves for, or is it information which, without any likelihood of benefit, is likely to cause only undue suffering or distress?
• What is the participant’s expectation of what they would be told after the research test? Have the implications of receiving or not receiving individual results been explained to them? Have they expressed a desire to know or not to know?
• What about the researcher? Is he or she also the treating clinician with a duty to disclose? Or if the researcher is a non MD, do they nonetheless have some “lesser” legal or moral duty to disclose?
• If the researcher non-MD decides to disclose, should they do so directly to the participant or should they communicate through a health professional who could help verify and interpret the results, answer the individual’s questions and offer support? In the latter case, will the genetic test result thereby become part of the individual’s clinical record, jeopardizing his or her chances of securing insurance or employment? Does the individual know about the potential risk of discrimination, and is he or she willing to assume it?

Confusion about scientific terms can affect how people perceive a technology. That’s what Nancy Gélinas found when she analyzed the results of an online survey she designed to gauge stakeholder and public perceptions about the use of genomics in forestry.

“In French, the terms modification génétique (genetic modification) and amélioration génétique (molecular breeding) sound very much alike and seem to confuse people. There is also confusion about the term sélection génétique (genetic selection),” explains Gélinas, a forestry economist at Université Laval. “Using a survey, we wanted to test if this confusion affected people’s level of acceptance for using genomics in forestry. At the beginning of the survey, before the terms were explained and put into context, people reported feeling less comfortable with using genomics in forestry. After terms and distinctions were explained to them, and put into context, they were more comfortable with its use in the forestry sector.”

“What I can surmise is that some survey respondents thought that molecular breeding involves genetic modification. This worried them, because, as a rule, they don’t want GMOs (genetically modified organisms) in their forests.”

Molecular breeding involves the identification and evaluation of useful traits using marker-assisted selection – genetic selection, only fast-tracked – while genetic modification uses specific techniques to directly alter the structure and characteristics of genes in living organisms.

Gélinas’ survey is part of a GE³LS project embedded within the Genome Quebec/Genome Alberta Arborea II forestry genomics project, led by Laval forest biologists John MacKay and Jean Bousquet. The integrated GE³LS project, co-led by Gélinas and Robert Beauregard, also of Laval, aims to assess the socio-economic impacts of applying new genomics knowledge to the forestry sector.

In the online survey, respondents were asked to share their perspectives on using genomics in two different forestry scenarios: forestry plantations and “functional zones”.

Forestry plantations involve planting trees for lumber, over a large area. Genomics could be used in a forestry plantation scenario to grow more trees, faster. Explains Gélinas, “It could help to produce more wood, but, in the public’s perception, could also have an impact on the aesthetics of the forest and on the environment.”

The second scenario, which Gélinas describes as a “new vision for forest management”, involves dividing a smaller area into three “functional zones”: extensive management; intensive management; and conservation.

The three-zone system was developed to make forest management more efficient. The extensive management zone is a multi-use area that allows recreation, conservation, and more restrictive forestry management practices, such as small partial cuts. Intensive management areas are focussed exclusively on wood production, such as forestry plantations. The conservation area restricts any type of forest management, except for the purposes of wildlife management.

Gélinas comments, “Functional zoning allows the industry to produce more trees faster, while using less space. The use of genetically improved trees increases productivity in the intensive zone.”

Gélinas found that once respondents understood molecular breeding and how it could be used in the different scenarios, they indicated a preference for applying it in a functional zone scenario.

“Our analysis of preliminary results shows that people think forest genomics could help resolve some forestry issues. A better understanding of what genomics means reinforces that perception. Also, context can influence the perception of genomics and its potential to resolve some issues. These findings will help us identify the kind of information we need to share with people, so that they can make up their own minds about a certain technology.”

Gélinas became involved in the project after being approached by the scientific project’s co-leads at the beginning of the second phase of the Arborea forestry genomics project.

“I attend all the scientific meetings, and, at first, it was hard to follow the discussion – the biggest challenge was just to understand the technical language being used across different disciplines.”

“Committee members come from different universities and genomics specialties and, while they were all very interested in GE³LS issues, they didn’t necessarily share the same perceptions. This made it challenging to reach a consensus on what should be the objectives of the socio-economic aspects of the research. But, over time, our dialogue became easier and I became a very accepted part of the committee.”

The project’s next steps include defining the level of social acceptability of forestry genomics and providing more hard data to inform decision-making. The project is slated to wrap up next spring.

“This research is well-timed, given the current context of a substantial review of the forest regime in the province of Québec,” concludes Gélinas.

---

Integrated GE³LS project: “An analysis of socio-economic impacts and environmental issues associated with the use of genomics research to enhance breeding of softwood trees”

Patent law has not always been at the centre of debate. After all, it is made up of a relatively straightforward set of statutes and regulations designed to protect inventions of a mechanical nature — the proverbial ‘mousetrap’. But in the last several decades, intellectual property regimes have strained to deal with innovations of a biological nature – critical assets that research institutions and companies strive to protect in the hopes of one day achieving a financial return.

The patenting of life forms has perhaps sparked the most controversy. Some argue that since genes are part of nature they cannot be deemed human inventions, and should therefore remain unpatentable. A common counterargument is that it takes considerable time and intellectual effort to identify, isolate, purify and find a use for a gene, which qualifies as “invention”.

For others, it’s more a question of timing. Some critics argue that patents obtained too early in the discovery research process – too far ‘upstream’ – can unfairly limit access and create obstacles for ‘downstream’ research, especially when it comes time to develop applications such as new drugs or vaccines.

Some commentators have raised the spectre of ‘patent thickets’ – the development of complex networks of patents that can stifle research. The concern is that even if researchers manage to unravel these networks, they may still face the costly prospect of having to license numerous patented genomics-based technologies in order to conduct their research.

Given these issues, some critics have questioned whether to continue to patent and license biological innovations in a conventional manner, or whether the IP protection of such innovations should be opened up, in a process akin to the open-source software movement.

Such IP-related conundrums are what preoccupy Dr. Ed Levy and Emily Marden, both of whom are faculty members at the W. Maurice Young Centre for Applied Ethics (CAE) at UBC. Along with related academic credentials, both have experience working in the biotech industry: after teaching philosophy of science at the University of British Columbia from 1967-1988, Levy held various management positions at the biotechnology company QLT Inc. until 2002. Marden is also a practicing regulatory attorney in the biotech/pharmaceutical arena.

Their partnership began while investigating alternative IP models as part a large-scale, stand-alone GE³LS project –“Building a GE³LS Architecture” (GE³LS Arch) – a Genome Canada project led by the CAE’s Michael Burgess and Peter Danielson aiming to ensure public concerns are reflected in policies related to genomics. Using the Arch project as a springboard, Levy and Marden formed the Intellectual Property and Policy Research Group (IPPRG) to study and compare IP regimes such as public domain, open source biology, and full-scale patenting.

“After the SARS sequence was identified at the BC Cancer Agency, we started thinking about alternative IP,” says Marden. “At the time, there was lots of talk about novel IP regimes, but we wanted to look at actual case studies of where new forms of IP were being implemented and ask critical questions.”

As a result of those efforts, the IPPRG group is developing a portfolio of real-world approaches where novel intellectual property regimes are being proposed for genomics research. The portfolio includes efforts by the BC Cancer Agency (BCCA) to patent the SARS sequence using a three-tier system of licensing: freely available to researchers; widely available to those attempting to develop a diagnostic; and available on a limited basis to those developing a therapeutic. It also includes an analysis of the efforts by the BCCA to form a patent pool around the SARS sequence; Levy and Marden tracked this work and, in the process, developed a position that patent pools were a means of promoting ‘open science’.

Stemming from work initiated as part of the Arch project, Levy and Marden are now involved with two integrated GE³LS projects investigating different aspects of IP. The common thread: a focus on the social and legal issues at stake, including the promotion of public health, the location of proprietary rights, and the distribution of costs and benefits.

“Dissecting Gene Expression Networks in Mammalian Organogenesis”, commonly known as “MORGEN”, is a Genome Canada/Genome BC-funded project that’s generating and publishing novel scientific information on how genes direct the development of tissue and organs inside the embryo. IP rights could be maintained over some of that information. Levy and Marden, along with colleague Rebecca Goulding, are examining how different IP options could impact both the conduct of upstream scientific research like MORGEN's and the possible commercialization of its results.

“MORGEN is giving us a rare opportunity to test the concept of open-source licensing in a way that we haven’t seen anywhere else,” says Marden. “Making the transition from the open-source model used in the software world to the world of biology is challenging; it’s not a neat or easy transition.”

Adds Levy, “The big question is: Can you have data sharing and data disclosure in such a way that those things you want to become a product have enough proprietary protection?”

Part of the IPPRG’s investigation involves how Technology Transfer Offices (TTOs) –which manage a university’s research initiatives with industry and are responsible for commercializing the university’s intellectual property – influence the IP process.

“You have to look at the role of TTOs when you investigate alternative IP models,” explains Levy. “They’re the gatekeepers of upstream science and the use of alternative IP, and unless you acknowledge their significant role, you won’t get very far.”

With lead researcher Lily Farris, the group is also getting the opportunity to study a wormy subject: the impact on IP of scientific data being released into public domain. In this case, the scientific data is sequencing data from the C. elegans Gene Knockout Consortium (GKC), a central large-scale production system used to generate worms with ‘knocked out’ or deleted genes that researchers all over the world are using to address biological and disease-related problems.

“In this project, we’re analyzing how the GKC distributes worms and shares their genetic data with other researchers and developers around the world in order to understand the downstream impact. We’re tracking publications and patents that reference the use of C. elegans and the knockout consortium, to illustrate how this open science system functions,” says Levy.

More recently, Marden was invited to lead an integrated GE³LS project on Sunflower Genomics, funded by Genome Canada as part of its Applied Genomics Research in Bioproducts or Crops (ABC) competition, and will be investigating IP and regulatory issues in the context of genetically modified plants.

“The key thing to emphasize is that what we’ve done is the reverse of how most integrated research projects evolve,” says Levy. “Rather than work with one science project to identify and address its particular GE³LS aspects, we started by identifying a set of issues that cut across scientific projects. Then we were able to investigate various real-world scientific projects as they grappled with these same issues. Cross-fertilization between the different projects – between the science and the social science and humanities, and between the different GE³LS projects – has advanced our research a lot further than if we’d worked independently.”

---

UBC’s Intellectual Property and Policy Research Group (IPPRG) outputs have included numerous presentations at conferences, published peer-reviewed articles, and two day-long workshops with internationally recognized scholars, industry representatives and scientists working in the IP area:

• “Genomics and Intellectual Property: Considering Alternatives to Traditional Patenting”, held with the MORGEN research team in 2007.
• “Alternative Intellectual Property for Genomics and the Activity of Technology Transfer Offices: Emerging Directions in Research”. This 2008 event was attended by approximately 25 scientific, sociology, and law scholars and technology transfer managers, including Rebecca Eisenberg, Janet Hope, Dianne Nicol, Rob Bouchard, and Angus Livingtone.

Officially launched on October 1, 2009, VALGEN (Value Addition through Genomics and GE³LS) is a large-scale, $5.4M GE³LS research project funded under Genome Canada’s $112M Applied Genomics Research in Bioproducts or Crops (ABC) competition.

According to VALGEN’s first policy brief, “Amidst the opportunities in applied genomics for bioproducts and crops, deep governance challenges exist. VALGEN responds to these challenges by assembling a team of researchers to study how Canada can benefit from applying genomic research to agriculture.”

Using current research methods in the social sciences, humanities and legal scholarship, VALGEN researchers will focus on three areas where barriers to innovation in agricultural biotechnology research and development typically arise: intellectual property management and technology transfer, regulation and governance, and democratic engagement.

Along with conducting its own stand-alone research program, VALGEN also aims to ‘add value’ to the eleven GE³LS research teams integrated in the ABC science-based projects – taking the notion of integration to the next level.

“VALGEN’s main objective is to identify and remove roadblocks to innovation within the bioproduct and crop sectors,” explains the University of Ottawa’s David Castle, who, along with the University of Saskatchewan’s Peter W.B. Phillips, is leading the VALGEN research initiative. “As we conduct our research in this area, we also want to provide a synoptic vision of what everyone else is doing within the integrated projects, so we can help provide linkages between researchers, nationally and internationally, and identify research gaps. It’s a synthetic approach.”

The VALGEN concept was conceived to allow for synergies across many of the projects dealing with similar GE³LS issues, so that knowledge can be abstracted for the purposes of policy formulation and the development of best practices. Phillips noted that “this ‘higher level’ of integrated GE³LS research is expected to provide a range of new opportunities that GE³LS researchers would not likely obtain working on isolated projects. We intend to be the hub for knowledge translation between the GE³LS and the science establishment.”

“For many years, Peter Phillips and I, along with various colleagues, had been discussing the strengths and weaknesses of GE³LS integration, and how to improve it,” comments Castle. “There have been some situations of redundant research; people doing very similar things in different places, working within their own silos or their own regional areas. Some research and collaboration opportunities were missed.”

“It has been a serious problem,” adds Castle. “People talk about a ‘GE³LS community’, but it’s still developing. There are people who know of each other, but that’s more by accident than design. Part of the problem is not many people work on GE³LS issues – we know from the ABC competition, for instance, that it’s not always easy to find a GE³LS researcher.”

“We want to provide some cohesion between the integrated projects and mobilize the researchers. That includes developing a network to support existing researchers. But we also want to train new researchers,” says Castle.

VALGEN will ‘add value’ to the 11 integrated GE³LS projects through a number of mechanisms: formal networking; identification of overlaps, gaps and potential for synergies in the collective research activities of integrated GE³LS; communications; coordination of partnerships; and new researcher mobility programs.

“For instance, you could have two groups doing some kind of democratic engagement activity,” explains Castle. “There might be situations where they could collaborate or pool resources. They’d have bigger samples, or could each do something different; one could conduct a focus group, the other a citizen jury. That’s just one example.”

Castle adds that since agricultural and environmental ethics is a new field, GE³LS-related research would benefit from having a stronger ‘brand identity’.

“We want VALGEN to provide a brand for Canadian researchers to self-identify within this scope of activity, so Canadian researchers are recognized as thought leaders internationally in the bioproduct and crop sector, which is so important to our economy.”

As a first step to developing this network, the VALGEN team has invited Principal Investigators (PIs) from all 11 science-based projects, as well as the GE³LS leads for each integrated project, to a meeting in Banff in January 2010.

“It’s a chance for us to let everyone know who we are, what we intend to do, and what VALGEN can bring to the integrated projects,” notes Castle. “All the project teams are participating – they’re excited and curious. We want to get input and start to develop an action plan of how the network will develop and what kinds of benefits it will bring to everybody. To start to develop a community, people will sit down face-to-face and talk about their work. We’ll start to identify overlaps and gaps, opportunities, how we can do things better, and how we can overcome barriers.”

---

VALGEN Facts

The team includes researchers from across the country from the Universities of British Columbia, Calgary, Saskatchewan, Regina, Western Ontario, Ottawa, McGill, Laval, and New Brunswick.

Over 100 students and employees, as well as 60 industrial and government partners contributing to research design and development, will work on the VALGEN project.

VALGEN is supported by Genome Canada and managed by Genome Prairie. Major funding partners include the Government of Saskatchewan, Western Economic Diversification, Genome Prairie, Genome Alberta, Genome BC, Genome Quebec, the Canola Council of Canada, Concept Systems Inc., SRC Holdings Ltd, the University of Saskatchewan and the University of Ottawa.

Academic partners include The University of Edinburgh (Scotland); Kluyver Center for Genomics (The Netherlands); the Said Business School, University of Oxford (England); and the Université de Versailles Saint-Quentin-en-Yvelines (France).

For more information, contact:

Peter W.B. Phillips, Johnson-Shoyama Graduate School of Public Policy, University of Saskatchewan
peter.phillips@usask.ca

David Castle, Canada Research Chair in Science and Society, University of Ottawa
dcastle@uOttawa.ca

Kari Doerksen, VALGEN Project Manager
kdoerksen@genomeprairie.ca