Ontario Cancer Genetics Hub In The Works

By Patricia Joyce Thangaraj

The Ontario Hereditary Cancer Research Network (OHCRN) is creating an Ontario cancer genetics and genomics registry that would result in several advantages for both patients who are living with hereditary cancer syndromes in this province as well as the clinicians who treat them.

This was revealed by Program Manager at the Ontario Institute for Cancer Research (OICR), OHCRN, Lauren Hughes who delivered a presentation entitled “Who Else Is Out There? The Ontario Hereditary Cancer Research Network” as part of a 2022 webinar series hosted by the Women’s College Hospital (WCH).

Program Manager at the Ontario Institute for Cancer Research (OICR), OHCRN, Lauren Hughes.

She said that the OICR is really in a unique position to be able to support the development of a cancer genetics research network. The OICR includes three main initiatives. These are clinical translation, therapeutic innovation and adaptive oncology, which is the branch that the OHCRN fits into. The adaptive oncology program beings together researchers who have expertise in areas such as genomics, bioinformatics, machine learning, biology and pathology among other areas.

The various stakeholders that the OICR collaborates with across the different organizations, disciplines and professionals to build a comprehensive network.

Echoing Medical Geneticist and Medical Director, Genetics and Cancer Early Detection, Princess Margaret Cancer Centre, Dr. Raymond Kim’s comments, she explained that this project is very patient driven in an effort to ensure that the OICR meets the needs and desires of cancer patients, they reached out to their patient partners who either already have or are at risk for hereditary cancer in order to get their contributions on what they hope to gain from the OICR.

Some of the feedback that they received from their patient population included access to high-risk screening, preventative surgeries, oncologists and other specialists in Ontario, patient support, accessible testing options for their families, therapeutic intervention for their families, personalized medicine and enrollment in clinical trials. Therefore, these are the areas that the OICR are aiming to target as they expand on the program.

She stated that one of the obstacles that they have is that some of the cancer syndromes that they are dealing with are rare tumours, which is why it is imperative to bring together patients who have these cancers with the oncologists who specialize in treating these rare cancers.

“One of the current challenges is that some of these cancer syndromes that we’re trying to study are quite rare. So in order to improve clinical care in all of these areas, we need a way to bring together as many patients and researchers as possible to support the work that actually informs these clinical decisions.”

These are just some of the responses that the OICR would have received from their patient population.

Building The Hub

Therefore, in order to bring together these two groups, they would be creating an Ontario genetics website where information on areas such as clinics and advocacy groups can easily be accessed. The website would also contain links to other health care organizations across the province such as Cancer Care Ontario where they can go to get further information.

“So, keeping this patient partner feedback in mind, we’re building out an online Ontario genetics hub. So, we’ll develop a website for patients and clinicians including information about clinics, labs, and advocacy groups. We’ll be able to link out to provincial health organizations like Ontario Health and Cancer Care Ontario to better connect the cancer genetics community. There will also be a portal into the research registry for different options for enrollment.”

They would start off by recruiting both clinicians and patients to enroll into their registry. For clinicians, this would involve a care provider reaching out to their patients to obtain consent to participate in this initiative while patients can go online, identify themselves as a carrier of a hereditary cancer syndrome and indicate their interest to participate in this program.

“So, for our first step, we are focusing on building out the registry enrollment by clinicians and by patients. For a clinician enrollment, a care provider would be able to obtain contact from their patients and then for patient enrollment, patients would be able to go online and self-identify as a carrier and provide their own consent for contact by the OHCRN and then more detailed permissions will be arranged later on to fully enroll the individual into the registry.”

Hughes said that they would start off with patients who have deleterious mutations, disease-causing mutations, predisposing mutations and susceptibility gene mutations, but as they expand on this virtual hub, other persons would have an opportunity to join as well.

“The first version of the OHCRN would focus on confirmed carriers with pathogenic variants or mutations. But we’re building this registry to really be able to encompass everyone who accesses hereditary cancer genetic testing in Ontario. This includes both individuals with and without cancer diagnoses.”

An outline of the OHCRN website.

Factors To Consider

One of the critical factors involved in putting this hub together is ensuring that they respect patients’ privacy at all costs. This would involve taking thorough steps to ensure that they obtain their consent before sharing any of their health information, to participate in their research and for their information to also be included on the websites of their partner organizations across Ontario, explained the OICR Program Manager.

“So in order to build a registry that is beneficial to patients and researchers that also respects patients’ autonomy, means that we must also be very thoughtful when it comes to developing the consent. So things that we are keeping in mind again as we build it out are obtaining consent to register into the registry to release and share clinical and genomic data, to participate in anonymized research, to be recontacted by the program, to connect with existing research registries and to link to external databases.”

The steps involved in obtaining consent from hereditary cancer syndrome patients to use their clinical information.

The registry will serve as a central hub that would contain information on patients’ clinical data such as their cancer status and type and their genetic or genomic details such as their molecular genetic test results. The registry will also link out to external databases which will help to capture additional clinical information. This would include things like a patient’s surgical history and/or their medication history, said Hughes.

Obstacles In Data Collection

She said that one of the biggest hurdles that they are encountering with this project is that it requires pulling data from diverse sources stored in non-standardized formats. All of this information is currently being captured in various ways by different organizations. However, they are working overcoming this challenge.

Some of the clinical data that the hub would have.

The OICR Program Manager said that the process of gathering and centralizing all of this data appeared to be a relatively easy task when they first started out. However, as time went on, they realized that collecting patients’ cancer syndrome information was much more multifaceted.

“So when we first started thinking about centralizing this patient information, I would admit, it seemed initially relatively simple. We would gather patient clinical and genomic information and consolidate it with any research data that was already being collected, we would make it available to approved researchers and projects and this would drive cancer knowledge forward. This is still very much a high-level overview of what we are doing. But the collection of data has become more complex over time as we dig deeper.”

The initial steps involved in collecting and consolidating patients’ clinical information.

This is because they have to consolidate data from multiple sources. “You start to see the complexities become apparent as we consider the multitude of resources that can contribute to these different information categories. For example, patient clinical data can come from genetics clinics, can come from administrative health databases, other existing registries and so forth.”

Moving further into the data collection process.

It also involves collecting and centralizing data from primary, secondary and tertiary sources, which further complicates the process, she said.  “And then as we dig further, we are discovering that even those secondary contributors have resources that need to be considered. So what initially seemed like a straightforward data collection is actually becoming quite a bit more complicated.”

Collecting data from primary, secondary and tertiary sources.

Hughes stated that with all of the work involved in putting this together, they had to stop for a moment and ask themselves if this initiative is even worth their time and energy and this involves more than just their opinion. They also have to consider what patients need and want.

“So as we get into the weeds of the data collection and consolidation, I think it is a good time to take a step back and ask the question, ‘Do patients and clinicians even want registries? Is all of this work to bring data together worth it?’ Obviously, we think it is, but what do patients have to say about it.”

She said that a paper coming out of Australia last year addressed this same question. ICCON is a research database in Australia for adult carriers of germline pathogenic variants in cancer predisposition genes and in this database, patient anonymized data is available for research. Patient anonymized data plays a crucial role in informing broad clinical care and health policy.

However, Australia does not have an active national registry with re-identifiable information. This is why this registry is so important because storing identifiable and linkable information is necessary to be able to facilitate patient enrollment in areas such as clinical trials and to be able to link to additional health data, said the OHCRN Program Manager.

She said that the ICCON interviewed patients who have received care from a familial cancer care clinic in Australia, where they asked patients for their thoughts on establishing a national genetics and genomics registry in that country.

The ICCON Australian paper.

Identifying The Needs Of Patients And Clinicians

What the OHCRN team discovered from this Australian example as well as interviews that they conducted in Ontario is that patients and clinicians are indeed interested in having this registry. Furthermore, they also have their viewpoints on what they believe this registry should accomplish.

“So the short answer to the question is yes. Patients and clinicians do want registries to participate in them, but they had many thoughts that anyone building a research registry, including us at the OHCRN must consider and these include making patient privacy and consent a priority, controlling access to data, ensuring protection from discrimination and ensuring that the registry collaborates with other existing research initiatives.”

Ensuring that their data was centralized, that they had an opportunity to connect with experts, learn more about gene discovery and variant reclassification and have a source where their voices could be heard were some of the other areas that patients expressed an interest in gaining from the registry, said the OICR Program Manager.

“The interviewees also commented on the positive impact of the registry such as the opportunity to standardize and connect with experts, an opportunity for gene discover and variant reclassification and the potential for mutual benefit and this was a theme in that it really needs to be two-way communication, where patients can provide their information and consent and contribute to research, but also receive up-to-date information and communication back from researchers.”

Hughes said that several of the patients that they interviewed also spoke about the need to improve their own care and help their families. Therefore, the more information that the OHCRN can provide, the better it would be the future generations of these families with hereditary cancer syndromes and if there are treatments, programs and/or other things that people can do reduce their risks and that of their future generations from getting cancer, then it is good to know that these resources are available for these patients.

She said the overall, patients are willing to share their genetic information for their personal benefits as well as the benefits of other people who are in a similar situation as themselves.

Using this Australian example in addition to conducting their own interviews with patients in Ontario, the OHCRN were able to pinpoint some of the criteria that patients were looking for. The two quotes on the right highlight some of the feedback that they received from their patient population.

A Unified System

The idea of a genetics registry is not entirely new. She said that they have talked about the existing registries in Ontario that function separately and there are other groups across the globe that are also working on developing more complex research registries.

The organizations included in their research in putting together the unified Ontario registry are built on similar health care systems to Canada. Many of them are also siloed and function in an anonymized fashion similar to the ICCON database. The UK also has several initiatives to consolidate their own clinical and genomic data. However, even though they have a solid national health care system, they still face many obstacles when it comes to connecting and using identified information, said the OICR Program Manager.

There is also the European based ERN Genturis health care system, which the EU created in an effort to try and consolidate the sharing of medical knowledge and expertise across the EU. She said that as they continue to expand on the OHCRN, they would keep track of these similar projects because for many persons living with rare cancer syndromes in Ontario, the only way to truly profile them, will be to connect them with as many people and groups as possible.

The organizations included here are built on similar health care systems to Canada, said the OICR Program Manager.

Meeting The Needs Of Patients And Clinicians

She said from a clinician viewpoint, the registry would help to answer questions like the number of BRCA1 and BRCA2 carriers living in Ontario.

“So to give you an idea of some of the use cases or questions that we’re hoping to answer. Centralization of patient information and building of a larger data repository will allow researchers to address some of the questions listed here. So for example, ‘How many BRCA1 carriers are there in Ontario? What are the cancer rates of BRCA2 carriers in Ontario? What is the incidence of ovarian cancer in PALB2 carriers?’”

Meanwhile, some of the questions that the registry would help to answer for patients include how many persons living in Ontario have the same mutation that they have, the age that these persons have risk reducing surgery, how many people with the same mutation that they have got a mastectomy and if their variant of uncertain significance is now significant among others.

“And then thinking about questions more from a patient perspective that we can help to answer, ‘How many people in Ontario have the same mutation as me? At what age do people with the same mutation as me, have risk reducing surgery in Ontario? I am a BRCA1 carrier, do I have a higher risk of colon cancer? How many people in Ontario with my mutation have had a mastectomy? Is my variant of uncertain significance now significant.’ I feel that this is a question that we in clinical care get quite often – I mean the genetic results that we receive aren’t always as clear cut as we would like them to be – and ‘What research studies can I participate in?’ So to have really a centralized place where both patients and clinicians can go to find out how patients can contribute and how clinicians can get involved.”

Some of the questions that the OHCRN team would have received from interviews conducted with their hereditary cancer syndrome patient population in Ontario.

Benefits For Hereditary Cancer Syndrome Patients In Both Rural And Urban Ontario

Patients with hereditary cancer syndromes such as BRCA1 who are living in rural Ontario would have greater access to genetics and genomics research, the opportunity to connect with these researchers and access to more updated and advanced screening technologies, she said.

“So to return back to the patients that Dr. Kim introduced. So thinking forward to when OHCRN is complete, fully up and running, we can really see the benefits of building this network and connections. So if we return to Patient A in rural Ontario who is the carrier of a BRCA1 mutation, they can now register with OHCRN to connect with current research, access specialists and know when new screening technologies become available.”

Benefits for hereditary cancer syndrome patients in rural Ontario.

Meanwhile, patients with hereditary cancer syndromes living in urban Ontario would also be able to connect with clinicians and their current research among other benefits, said Hughes.

“And then Patient B in the city centre who is a carrier of a PALB2 mutation, is now better able to connect with the current research as well. Their surveillance guidelines and documents that their clinicians are using to make clinical decisions, will be based off more evidence and more data that was generated within Ontario.”

Benefits for hereditary cancer patients in urban Ontario.

The OICR Program Manager said that in moving forward, collaborations between the different stakeholders in the hereditary cancer space and the community building, which is currently occurring, would help to eliminate those geographical and institutional hurdles and encourage data sharing and mutually beneficial partnerships.

The final registry will expand on existing systems including imaging across Ontario in areas such as tumour genomics and health data while clinical care will benefit from increased cohesiveness and the connection to research will help to facilitate clinical trials and genomic discovery. 

A preview of the objectives that the OHCRN team hope to gain from the registry.

Hughes said that when she was working in clinical care, patients would often ask her how they can help and as Dr. Kim mentioned, carriers are usually very proactive and engaged and often wanting to know how they can help further scientific discovery, how they can learn more about their specific mutation and how they build knowledge for their families among other things.

Patients play such a critical role in research and they encourage them to participate wherever and whenever they can from attending webinars like this one to participating as a patient partner in their respective clinics, hospitals or other organizations. “Patient voices really help to shape research and ensures that progress continues in a responsible and meaningful direction.”

Highlighting the importance of patients’ voices, Hughes encouraged patients to get involved from attending educational webinars like this one to participating as a patient partner in their respective clinics, hospitals or other organizations.

It is also imperative that patients with hereditary cancer syndromes share their health information with their families in areas such as their family history, the inherited risk factors in their respective families and available research and clinical care and once the OHCRN is up and running, they encourage patients to enroll, said Hughes.

The contact information for the OHCRN team for hereditary cancer syndrome patients interested in enrolling in the registry.


Who else is out there? The Ontario Hereditary Cancer Research Network


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