Dr. Yvonne Bombard stands outside the Li Ka Shing Knowledge Institute.

Dr. Yvonne Bombard

An innovator and an advocate: that’s how Dr. Yvonne Bombard describes herself when it comes to genetics research and access to genomic medicine. 

Dr. Bombard heads up a lab at the Li Ka Shing Knowledge Institute that evaluates the adoption of genomic medicine practices and creates digital solutions to optimize access to genetic testing. Her research on patients being denied insurance or employment due to genetic information has led to changes in Federal legislation. Her studies on patient and provider experiences in accessing genomic testing led to the development of a digital platform to fill in gaps in genomics care. Now, she’s tackling the deeply rooted inequities that exist in accessing genetic testing and receiving care-altering results.

For World DNA Day, we caught up with Dr. Bombard to learn more about her research.

What do we know about genomics in health?

Genomics is the backbone of disease and health. We’ve come a long way from looking at genetics, which is just looking at one gene and how it is associated with one disease to genomics, which is looking at different factors genetic variants, environmental, lifestyle that impact health and disease. Genetic testing can diagnose your disease, predict how severe it might be or identify the best medicine and dose for you – this is personalized medicine.

With COVID, we now appreciate how fundamental genomics is to tracking emerging variants. Never has there been a time when the word ‘variant’ is such a household word – that’s the power of genetics and genomics for public health as well as for disease diagnosis and prevention.

When it comes to genetic health, what are some of the biggest barriers that patients face?

What we’re seeing is that individuals who get access to genetic testing are unfortunately a very small proportion of the population. It is a problem with how we’ve structured who’s eligible for genetic testing – in order to access it, you have to have a very good understanding of your family history and get a special referral from your family doctor. That has marginalized some populations from ever being able to access a genetic test, which is fundamental to accessing high risk screening. If you can’t get a genetic diagnosis, you can’t access high risk screening and prophylactic surgeries. That cascades into poor health outcomes and higher mortality rates for populations experiencing marginalization who don’t have access to testing.

So unfortunately while the awareness of genetics is growing, there are systemic barriers impeding access to genetic services to the patients who can benefit the most. We know of the power of genomic information and the promise it has to improve patient outcomes and public health- our systems just are not yet designed and set up to enable equitable access to it.

How does a lack of access to genetic information for an individual impact the broader system?

Because of the way the system works currently, there is a burden placed on the patient to provide family health information to their care provider to be eligible for a genetic test. A patient might not have a family physician, the resources or knowledge of biological relatives to be able to do that, which shuts out a huge segment of the population and reinforces health disparities.

The individuals who are able to access genetic testing are more often than not those of European ancestry. As a result, most of our research and databases that we use to interpret people’s genetic results are based on European populations and so a large majority of non-European individuals are getting either negative or unclear test results, which means they’re at a disadvantage from gaining access to potentially lifesaving interventions.

On the flip side, your research also examines the challenges health care providers face when it comes to genomics. What are some of the barriers from that lens?

It depends on the provider. In the case of a family doctor, we hear that they often see patients who have received direct-to-consumer DNA results (like 23andme) and want to know how to act on the information they have. As stewards of the health-care system, family physicians need to make the appropriate referrals but sometimes don’t have that information at their fingertips and aren’t equipped to manage DNA test results.

Looking past direct-to-consumer testing, we’re increasingly using genome sequencing tests in the clinic, which essentially unravels a patient’s whole genetic code. That results in a lot of complex information, which patients and doctors need help to navigate. Often providers don’t have the capacity or the resources, and they feel underprepared and overwhelmed. Patients also need resources to be empowered to act on their health information.

What are some of the health-system level challenges that exist with genomic medicine?

We don’t actually know if the benefits of all forms of genomic testing  outweigh the costs and how best to deliver the information in a way that support high quality care. That’s because genomics is still on the cutting edge and a lot of work needs to be done to develop the evidence base to support effective implementation.

Genomics is this field where often what we’re doing in research very quickly filters into the clinical world, and that information goes to the provider and the patient to essentially manage, and those costs are borne by the system as well. This is an interesting multi-pronged issue where the technology is moving faster than the systems we have to support it, or the evidence base we have currently.

How is your lab is working to address some of these barriers and challenges?

We want to improve access to high quality  genetic services and provide an evidence base for the benefits and the harms to inform what we should be doing in health care.

Early on, we knew that a concern for patients to even get genetic testing was the fear of being discriminated by insurers or employers based on their genetic results. Our research helped spur a federal law that has made it illegal for anyone in the country to deny someone goods or services based on genetic results.

We started to get interested in digital health because we thought it could be another way to improve access to genetic testing. So we created digital care systems to provide genetic testing, deliver genetic counseling, return test results, guide management, and help navigate patients through the care system.

Along the way it became very clear that the people we’re able to serve in our genetics clinics are coming from a very small segment of the population and that’s not equitable. We’re now studying what the inequities are so we can co-design strategies to mitigate them in partnership with underserved communities, providers and system decision makers.    

You are passionate about making sure patients inform the work you do. Why is it important to you to have patients at the table?

Patients are the reason we do the research we do. Patients offer their expertise – their lived experience – they teach us how we can provide better care experiences. Patient-partnered research can advance the quality of care we provide in medicine, especially in genetics or genomics.

When it comes to digital tools, patients are the users. If we’re not working in lockstep with the users, then there’s no point to invest and set up these systems of care for them.

Patient engagement is crucial especially when it comes to understanding inequities. There is no way we can understand the experiences, needs and barriers without partnering with individuals from the communities that have been marginalized.

What do you want people to know about the work you do?

We are not harnessing the full potential of what we can be doing to best serve our patients with our genetic and genomic technologies.

We are at a pivotal moment as a society, and as a health-care system where we can carefully and thoughtfully co-design how we’re going to scale the system of care to best support patients, their families and providers. The challenges that come with this opportunity can be easily addressed if we can think differently about how we can deliver care and do so in partnership with patients. We can integrate digital technologies to scale and optimize access while thinking carefully and honestly about existing disparities in our current service delivery model. This is a watershed moment for genetic and genomic health care delivery.

By: Ana Gajic