Health Equity: From Barriers to Breakthroughs

Denise Heaney
Chief Medical Partner, Molecular Solutions and Infectious Disease, VP, Medical and Scientific Affairs, Roche Diagnostics

I’m a subject matter expert in infectious diseases, including respiratory and sexual health, with over 20 years of experience in clinical diagnostics. I lead an interdisciplinary team dedicated to improving access to and utilization of diagnostics in the field of infectious diseases.

What health inequities have you observed in your professional lives?

AC: Let me give you a case study. A few years ago, we were invited to Kenya by William Ruto, who was then Vice President and is now the country’s President. Sitting in his backyard, he shared a striking story: his brother had died of prostate cancer at just 35 years old – something rarely seen elsewhere. While health disparities often explain late-stage diagnoses, cases like his raised the question of whether genetic factors also played a role.

Ruto believed his brother’s experience wasn’t unique, but part of a larger trend affecting the entire country. In Kenya, as in many parts of Africa, healthcare systems cannot afford the expensive diagnostics and treatments available in wealthier nations. The standard approach to prostate cancer there is heartbreaking – patients are typically diagnosed late, their extended families pool all their savings to send them to distant hospitals, and more often than not, they return home only to pass away. For every person lost, an estimated 11 more are impoverished in the process.

This highlights a crucial gap: diagnostics must not only be effective but also affordable and widely accessible. If we can develop low-cost, early-stage diagnostics, we can shift the focus from expensive late-stage treatment to cost-effective early intervention. The same principle applies to diseases like neurodegenerative disorders that Russ is studying, as well as to cancer.

RL: Our understanding of neurodegenerative diseases is years behind that of oncology. Historically, we classified diseases like Alzheimer’s and Parkinson’s based on clinical symptoms alone. If someone had dementia, we called it Alzheimer’s. If they had movement disorders, we categorized them as Parkinson’s or ALS. But as our diagnostic tools improve, we now realize these conditions are far more heterogeneous than we once thought. In dementia alone, there may be 10 or 11 distinct subtypes, each progressing at a different rate. The more precisely we can diagnose these conditions at a molecular level, the better we can tailor treatments.

Health inequities further complicate this challenge. Many biomarkers used for early Alzheimer’s detection were developed using data primarily from Northern European populations. But when we apply those same biomarkers to Black, Latino, or Asian populations, the established cutoff points may not be as accurate. This means we need more diverse data to ensure that diagnostic tools work equally well for all populations. However, gathering such data is difficult. We’ve spent 35 years collecting data from predominantly White populations, and now we need to catch up quickly to ensure our diagnostic tools are equitable.

I also want to echo Arnon’s point about cost. Early detection itself is a cost-effective solution – it can save lives and reduce the need for aggressive treatments. But some of the most precise diagnostic methods today require specialized expertise and expensive equipment. The challenge is to make these tools not just accurate, but also affordable and scalable worldwide.

DH: In infectious disease, health inequities in diagnostics are complex, driven by socioeconomic disparities, geographic barriers, and limited access to advanced testing technologies. Low-income populations, rural communities, and marginalized groups often struggle to obtain timely and accurate diagnoses due to a lack of nearby healthcare facilities, inadequate insurance coverage, and systemic biases. Cultural and language barriers can further delay diagnoses, leading to poorer health outcomes.

Addressing these challenges requires a multifaceted approach: targeted investments, policy reforms, community engagement, and a commitment to building a more inclusive healthcare system. By expanding access to decentralized and cost-effective diagnostic solutions, we can ensure that everyone – regardless of background or location – receives the early and accurate diagnoses they need to improve health outcomes.

What do you think is the main cause of the health disparities we see today? 

RL: One of the biggest challenges is that clinical trials – where we gather critical knowledge – often reflect a narrow patient population. In the US, major healthcare institutions, which generate the bulk of clinical data, tend to have better access to male patients of Northern European descent. That’s the historical reality and, as a result, our data have been skewed.

This is a critical issue because underrepresentation in clinical trials directly impacts diagnostics. If a diagnostic test is developed using data that excludes certain populations, it may not be equally effective for everyone. It’s rarely intentional, but when access is limited, so is the data. 

Over the last decade or more, we’ve been actively working to include underserved populations in clinical research. However, it’s a difficult process. Large, well-funded universities often don’t treat these populations by definition, so collecting representative data requires significant effort. There’s also a trust gap, which makes engaging these communities even more challenging. 

That said, progress is being made. We now recognize that health inequities lead to what I call health non-equivalences – meaning differences in how diseases are diagnosed and detected early. And those differences have profound implications for patient outcomes.

AC: Early detection is critical in most diseases, but especially in cancer. Yet, when you look at the data, the disparities are stark. Take prostate cancer, for example. Black men are more than twice as likely to die from the disease. Why? 

There could be genetic factors at play, but a much bigger issue is access. A large study published in The Lancet analyzed data from over a million men and found that late-stage diagnosis – largely due to inadequate access to care – is a major driver of this disparity. If you don’t have access to diagnosis, you reach a later stage of disease, and that drastically reduces survival rates.

This is where diagnostics can be a game-changer. Not only can they save lives, but they can also significantly reduce healthcare costs. We spend enormous amounts on late-stage cancer treatments, many of which might be unnecessary if we prioritized early detection. The populations that stand to benefit the most from improved diagnostic access are precisely those currently being underserved.

DH: My experience aligns with both of yours, and I’d add that the COVID-19 pandemic reinforced just how crucial diagnostics are in modern healthcare. The pandemic made it clear that laboratory tests inform around 70 percent of healthcare decisions. Yet, traditional diagnostic methods – often reliant on centralized lab testing – can be slow, expensive, and inaccessible to at-risk communities. These barriers contribute to delayed treatment, increased costs, and missed opportunities for early intervention.

One of the major takeaways from COVID-19 was the value of decentralized testing, particularly for respiratory diseases. But this approach has far broader applications. We have an opportunity to extend decentralized diagnostics to other critical health areas, such as sexually transmitted infections (STIs). By embracing these solutions, we can bridge healthcare access gaps and ensure that essential diagnostic testing reaches all communities, regardless of geography or socioeconomic status.

How are diagnostics evolving in order to address health disparities?

AC: I think it’s about asking the right questions about disease. Most cancer screening tools focus on the presence or absence of a biomarker. The majority of confirmatory biopsies in large cancer come back negative, which is not a good use of resources. 

My company’s screening tests use a unique approach, asking an important question about protein biomarkers: can we detect a change in the three-dimensional structure of a particular biomarker that could be a hallmark of the disease? Then we ask whether a person testing positive for this signature structure is more likely to have the disease. And, if we find that disease signatures vary with ethnicity, then we can apply that knowledge to the screening test to make it more inclusive.  

Finally, automating early detection tests will further lower theit cost, making the overall approach a cheaper option than a $10,000-dollar-a-month pill to treat a late-stage cancer.

RL: Molecular pathology has shown us that some neurodegenerative diseases are caused by normal brain proteins folding into an abnormal shape and then taking over and killing healthy cells. 

As with cancer, if we can detect the early stages of those aberrations, we can treat the disease with minimally invasive methods. But, unlike cancer, we can’t do a biopsy of the brain – the closest we can get to brain tissue is the cerebrospinal fluid. While that can be collected in a minimally invasive way, it would be great to seek the same results in blood or in an even more accessible tissue.

We're now exploring early diagnosis of brain disease by looking at nerves in the skin. Why? Because they're accessible, and, if we can work backwards to the link between what's in a peripheral nerve in the skin and what's been going on in the brain, we could make a diagnosis early and noninvasively. So we're learning, but we're always limited by both the biology and the pathology.

However, as we increase our disease understanding, we can then subtype conditions in different populations. That enables us to diagnose and treat each population in the best way. That's the important thing.

DH: Molecular diagnostic tests are also evolving rapidly, with a key trend toward molecular point-of-care testing (POCT) emerging. This approach brings diagnostic solutions closer to the patient, enabling easier access to care through urgent care centers and community health clinics, where providers have the potential to reach a variety of at-risk and underserved populations. 

This patient-centric approach enables rapid and precise real-time results during a single office visit, improving overall treatment management, reducing loss to follow-up, and curbing further infection transmission while supporting responsible antibiotic stewardship.

How do we ensure that POCT is fit for purpose?

DH: At least three measures need to be considered. The first is availability. The faster turnaround times afforded by POCT allow for more rapid clinical management, which is always a benefit for patients seeking care. When POCT isn’t available, there’s a risk of loss to follow-up with patients because the turnaround times for diagnostic testing sent to centralized labs are much longer.

Secondly, POCT should enhance workflow efficiency. With laboratory and medical staffing shortages taking a toll on nearly every area of healthcare, CLIA-waived POCT has the potential to streamline practice and administrative workflows and reduce time-intensive tasks. Simple, easy-to-use molecular POCT helps alleviate staffing shortages, freeing up laboratory personnel to focus on tasks that require more expertise.

Finally, POCT should support the principles of antimicrobial stewardship. STI testing and treatment patterns in the US offer a case in point. In a real-world study analyzing more than 23 million instances of patients presenting with symptoms of a urogenital condition, the study showed that 89 percent of patients who received antibiotics started their treatment within the first three days of their initial appointment – likely before their test results were available.

These study findings point to presumptive treatment for diseases that should be treated on the basis of a definitive diagnosis. The study also revealed that, even for individuals who showed symptoms, fewer than 2 in 10 received CT/NG testing, demonstrating the underutilization of point-of-care STI testing.

What success stories have you seen where diagnostic improvements have closed the health equity gap?

AC: I’ll share a quick story that sticks with me. One day, our Chief Operating Officer, Aimee, was chatting with our UPS delivery driver. He’d been coming to our office for years, but one day he finally asked, “What do you guys actually do here?” Aimee explained that we develop cancer diagnostic tests. He was curious and asked about the specific tests we worked on. When she mentioned our prostate cancer test, IsoPSA – one that analyzes isoforms of PSA – his response floored her.

He said, “I took that test last year. It saved my life.”

As someone who comes from a physics background rather than medicine, that moment really hit me. Physicians like Russ are used to directly saving lives, but for me, as a researcher and entrepreneur, it was a reminder of the real-world impact our work can have. This driver, who happened to be African American, had not only benefited from the test himself, but he had also encouraged his family members to get checked.

Since then, thousands of patients have used this test, and that number is growing rapidly. But beyond individual stories, the bigger picture is clear – early diagnostics are not just life-saving; they’re cost-saving. No matter the price of our test, it’s pennies on the dollar compared to what it would cost if the disease progressed unchecked. In both the US and internationally, healthcare budgets are under immense pressure, and when cuts happen, the most vulnerable populations are often hit hardest. If we don’t have effective and affordable diagnostic solutions for these communities, they will suffer the most.

RL: Arnon’s story illustrates exactly why this work is so critical. Let me add to that by talking about some of our own breakthroughs in neurodegenerative diseases.

For decades, we’ve known that when you examine the brain of someone with Alzheimer’s, Parkinson’s, or ALS after they’ve passed away, you see very specific protein abnormalities. The problem was, until recently, we had no way of detecting these diseases with certainty while the person was still alive. The only way to confirm a diagnosis was postmortem, meaning we had 100 percent accuracy – when it was far too late to do anything.

Now, thanks to new diagnostic tools, we can detect these same abnormal proteins in living patients using blood, spinal fluid, or even peripheral nerve samples. This is groundbreaking because we now know that these diseases don’t just appear suddenly in a person’s 60s or 70s – they start incubating 20 years earlier. That means if someone is diagnosed with Alzheimer’s at 70, the disease likely began developing when they were 50.

The question we asked ourselves was: Could we detect the disease at that earlier stage? The answer, thanks to long-term studies, is yes. We’ve been able to analyze samples from people in their 50s – long before they had symptoms – and predict with near certainty who would go on to develop the disease 20 years later. That’s an enormous leap forward.

But here’s where health equity comes into play. Most of our early biomarker research was based on data from predominantly Northern European populations. Now, as we apply these tests to Black, Latino, and Asian populations, we’re realizing that our original cutoff points for diagnosing disease may not be accurate for everyone. We need more diverse data to ensure our diagnostic tools work equally well across different populations.

The good news is that we’re making progress. We’re partnering with major pharmaceutical and medical device companies to develop treatments that match specific disease subtypes. But for these advancements to benefit all populations, we need better outreach and more inclusive clinical trials. The more diverse data we collect, the more precise and equitable our diagnostics will become.

DH: My success story comes from testing for STIs. Molecular POCT has transformed STI management by offering rapid, precise diagnostics in decentralized healthcare settings such as urgent care centers and community clinics. With timely and reliable results available during the patient visit, providers can implement well-guided treatment strategies immediately. This not only improves patient outcomes but also helps curb the spread of infections through early intervention.

Expanding access to diagnostics means meeting patients where they are – whether through accessible healthcare sites or targeted community outreach. This is particularly critical for at-risk and underserved populations who may struggle to access care or, in the case of STIs, avoid seeking treatment due to stigma or discrimination. 

What else needs to change in the diagnostic pathway?

AC: Both cancer and neurodegenerative diseases share characteristics with infectious disease. Just as infection starts with a small number of pathogenic organisms that multiply over time, cancer occurs from a single faulty cell that replicates, and neurodegenerative disease begins with a few misfolded proteins that recruit others to do the same.

The medical world knows that the best outcomes for infectious disease result when you catch it early. And the solution is always much simpler at that early stage than in advanced disease. 

So, if scientists like Russ can find ways to diagnose and treat early-stage Alzheimer’s or Parkinson’s, I could almost guarantee that the treatment would be simpler and more efficacious than treating late-stage disease, when the damage is more extensive.

We also need more focus on discovering the upstream markers of disease for screening purposes. The typical pathology workstream sees highly trained individuals testing thousands of benign samples every day. Ideally, we should see those confirmatory tests happening purely reflexively, after a screening test has filtered out those patients whose samples are negative for disease markers.

RL: I absolutely agree. Diagnosis is the key pillar of medicine. And when we develop screening tests that are simple and cost-effective, that means more people can have them – at a younger age – and we can catch disease before it really starts to do major damage.

The problem is that the best diagnostic solutions are not available to everyone. But even more importantly, the data that we've used to develop diagnostic tests only reflect a small part of the population.

Then we have the issue of health nonequivalence, which recognizes that people are biologically different with respect to diagnostic markers that we use. The challenge is to understand the context of those differences, so that we come to a diagnostic conclusion that is accurate for that person. As much as we don't want to generate false positives – which are both alarming and costly – we also don't want to miss things. 

There is a compromise to be reached there, but armed with understanding of health inequities and nonequivalencies, it's our obligation as diagnosticians to try to address both problems.