Sean is living in the shadows: He knows he has a rare genetic disorder—he was diagnosed when he was a small child. But he has long given up seeing doctors for his occasional attacks, because nobody could do anything for him. “Why bother,” he told his wife when she found out about his health problem, “I’ll just have to be strong and stick it out.”

Beth is also living in the shadows: She was 19 when she had her first bout of excruciating pain in her abdomen. Doctors removed her appendix, only to discover that it wasn’t that organ that was causing the problem. She’s now lived more than a decade with recurring attacks, trying to control them with a “Beth-proof” diet. She’s stopped seeing doctors because they believed her symptoms were all in her head. What they don’t know is that Beth and Sean have the same rare disease.

Living in the Shadows

Sean and Beth’s true experiences are quite representative of what a lot of people living with rare and orphan diseases go through: They receive suboptimal treatment, because they are unaware that they could ask for anything better or because their current healthcare team is not up-to-date on the latest scientific developments, treatment approvals, or protocols. This is tragic in and of itself, but it’s also a big loss for any biopharma companies that may have a possible solution to improving the lives of patients like Sean and Beth.

The stakes are high in rare diseases. Two individuals not on treatment means two individuals missing out on appropriate care. It also means two customers not even on the radar of providers, manufacturers, and payers. And it comes at a very significant loss for all. These losses are particularly high outside of urban communities, where many patients have less access to specialists and end up seeing only their GP, who probably has little exposure, if any, to other patients with the same rare condition.

The Severity of the Issue

For people living with a rare disease, the empowered and informed patient prototype is not necessarily typical. Often, we find people living in some form of denial, either not admitting there’s a health problem at all or not acknowledging the impact it has on their quality of life. Others, not knowing of different options, are resigned to their suffering. HCPs can correct that notion, and in many cases they do. But often there’s a lack of knowledge and awareness due to the rarity of the disease, so even people who go to a doctor for their condition often stay in the shadows, unable to obtain optimal care.

Another complicating factor in some rare diseases is the availability of cheap, band-aid, short-term solutions that can become problematic in the long term. For example, often steroids can be used to address acute symptoms, but at the long-term expense of suboptimal treatment and potential damage with chronic use. New treatments are approved for a reason. Patients and HCPs must understand the true severity of the issue in order for behavior change to take effect.

Eliminating the White Space

Now imagine if all of this were different. If those who need to know about a rare disease knew and understood the importance of addressing it. If there was a way to educate the right HCPs on the latest breakthroughs and treatment protocols and to educate those living with the disease on what questions to ask. Quality of life might be greatly improved for patients and their families. Patients would have hope that perhaps there’s more to life than just having to “stick it out.”

So what do you do when you know there’s a market, but you also see a significant amount of white space on the map? Deploying an army of sales reps to HCPs all over the country who may or may not see a patient with the disease seems like a waste of resources—it is not feasible for most emerging biotechs, or even large pharma companies. Instead, we’re looking for a targeted approach, through which a maximum number of cases can be found. Then the physical HCP visit only takes place once it is determined where the relevant individuals are.

Traditional methods looking at proxy data provide a starting point but often lack the critical qualification piece to be effective for the smaller, highly compensated, sales teams typical of rare treatments. To address this gap, many orphan disease biopharma companies are choosing cost-effective tele-profiling to help filter very large data sets into a more actionable set of targets. We call this multi-step process NEDL (Network, Evaluate, Define, and Locate).

Fish Where the Fish Are—Network And Evaluate

The first step is to define the network. We start with a deep dive into the disease state and corresponding attributes to try and narrow the focus. For example, in the case of some rare genetic disorders, there are geographic clusters that should be targeted along immigration patterns, e.g., Tyrosinemia in French Canada or Gaucher in Romania. Correspondingly we can then look for connections to those groups in our local communities using social, religious, or other proxies associated with the targets. Understanding the diagnosis process can also be insightful.

In the case of HAE, it might be allergists and immunologists as the focus since patients often present in the system because of swelling to the hands and face, often the hallmark of an allergic reaction—even certain types of lab tests can provide insight into a specific population. Or for acromegaly, ENTs could be targeted as symptoms include jaw pain, or podiatrists because of enlargement in their feet. There can also be behavioral predictors, like those observed with Wilson’s disease, which manifests often as a lack of coordination in the teens/twenties, even though it’s typically an ophthalmologist who actually sees the telltale signs; Copper rings in their eyes.

Beyond the healthcare provider, when we intend to deliver targeted education, we can even step outside the box and look to other outlets tied to aspects of certain diseases, e.g., wig shops for breast cancer patients or supplement stores for diseases with specific dietary concerns. Once we have defined the network, we can initiate the evaluation process.

This step is the most critical, as sifting through the network with a fine-mesh net requires a highly skilled and trained call center. During this step, the callers utilize specific questionnaires to figure out if the office is currently seeing patients with the rare disease, without, of course, asking for any protected information.

The Needle in a Haystack—Define And Locate

At the end of the evaluation step stands the definition of an HCP’s informational and educational needs. This helps to prioritize and focus visits by field sales representatives in a way that is not disruptive to their existing call plan and that meets with a welcoming audience: You only go where there’s an identified interest in learning more about the disease and the current treatment protocols.

Locating prospective leads then becomes a matter of focused efforts on the defined set of HCPs who currently see patients with the disease in question. Often there are low hanging fruits, so prioritization is important—particularly in the first iteration of the NEDL process. In the case of rare diseases however, companies should also consider starting the process over again with targets that may be less likely, but nonetheless conceivable, to be treating the disease. Even a single patient can have a significant financial impact.

For an HAE outreach for instance, one would focus first on allergists, then transition to GI doctors. The final iteration might simply be to target GPs in rural or difficult-to-reach areas, which may seem like a very big effort for a very small patient population. But let us not forget: This part of the patient population is exactly the part that tends to be not so engaged, not so informed, and all the more in need of education. And from an economic perspective, when considering the lifetime value of some of these treatments, even a few new leads could generate a meaningful ROI. This is especially true when there’s a genetic component. As in Sean and Beth’s case, every needle found in the haystack could lead to several other needles, making such an effort even more valuable.

One patient coming out of the shadows and regaining the trust that life has more in store for them than silent suffering—that idea appeals to all of us. Do you have NEDLs in the haystack that need to be found?

  • Nadine McGowan

    Nadine McGowan is a VP at Snow Companies. Nadine has built a reputation as one of the life science industry’s most patient-focused marketers. Nadine has had an impressive career within the industry before joining the patient engagement leader Snow Companies.


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