For Genetic Diseases, a Patient-First Approach Delivers More Precise Prognoses

April 30, 2021
Donovan Quill

Directions in Pharmacy, April 2021, Volume 3, Issue 2
Pages: 33

Health care practitioners and manufacturers must change practice patterns and management strategies.

A growing understanding genomics and of how genetics drives health, disease, and drug responses in each patient is enabling better disease prevention strategies, more accurate diagnoses, safer drug prescriptions, and more effective treatments. Personalized medicine (PM) tailors care to each patient’s unique genetic makeup, which can improve outcomes and lower costs.

For device and drug manufacturers, PM provides an opportunity to develop agents targeted for specific patient groups that don’t respond to medications.1 But effective PM requires changes in practice patterns and management strategies for health care practitioners and for manufacturers in reimbursement, regulatory practices, and knowledge sharing. What’s more, they must overcome barriers to implementation to effectively individualize diagnoses and prognoses.

PM will be especially relevant for the orphan drug market, which was projected in early 2020 to account for almost 40% of FDA approvals that year.2 More drug manufacturers are developing orphan drug products despite their financial value, which is sometimes limited and dependent upon the size of the targeted population that may benefit from a specialty drug. At the same time, this trend is making the orphan drug market more competitive and increasing the potential for reduced costs and broader patient accessibility. The products are often expensive because they target specific conditions. According to a recent IQVIA report, spending on orphan indications amounted to 11% of the $518 billion in the United States’ invoice spending in 2019. Furthermore, the average annual cost of treatment with an orphan drug was approximately $32,000, but about 39% of drugs with orphan indications cost more than $100,000 per year.3

Taking a patient-first approach to PM will benefit drug manufacturers, helping them to optimize patient care and gain a stronger financial foothold.

Looking at Genome Science

Genetic diseases have been traced to specific genes and can be connected to defects in the proteins they create. Most of these diseases are rare, typically affecting fewer than 200,000 individuals in the United States or fewer than 1 in 2000 in the European Union. There may be as many as 7000 rare diseases affecting the United States population.4

As genome science becomes part of the standard of routine care, the vast amount of genetic data will allow medicine to become more precise and more personal. In fact, the growing understanding of how large sets of genes may contribute to disease helps identify patients at risk from common diseases such as diabetes and cancer, as well as heart conditions. This in turn enables physicians to personalize their therapy decisions and allows patients to better calculate their risks and potentially take pre-emptive action.5

Moreover, the increase in other forms of data on individuals—such as molecular information from medical tests, electronic health records, or digital data recorded by sensors—more easily enables the capture of a wealth of personal information, as does the rise of artificial intelligence and cloud computing to analyze it. The challenge now is for hospitals, physicians, and pharmacies to keep pace with this vast repository of information, balancing its benefits while protecting patient privacy.

Leveraging a Patient-First Strategy

With a patient-first approach, wholesale distributors, specialty pharmacies, and hub service providers connect seamlessly under one roof, instead of operating independently. Continuity across the entire patient journey, from clinical trials to commercialization of products and beyond, strengthens communication; yields rich data, including genetic data, for more informed decision-making; and improves the overall patient experience.

This focus addresses all variables around collecting data, while maintaining frequent communication with patients and their families to ensure adherence and positive outcomes. Serving as a single-source, fully integrated partner, drug manufacturers benefit from this approach by bringing a continuity of care that is critically missing from the legacy care model. The net result is that patients have a better experience, which is a critical component of a product’s value.

In the orphan disease space, many manufacturers have worked with multiple specialty pharmacy partners and an internal or external product hub, but this unique patient-first approach offers key advantages:

Single source—When a manufacturer uses several specialty pharmacies, the payer will almost always have a distribution preference inside its network, which can force patients to change pharmacies and potentially disrupt care. The fully integrated, single-pharmacy, patient-focused model ensures that the patient has access to the right drug for a particular disease state. When there’s only one place to get this drug, insurance will cover it.

Competitive edge—Patients with rare and orphan diseases and their physicians must overcome massive hurdles in achieving any level of consistent care. When a new therapy is available on the market, switching to it can lead to physical, emotional, clinical, and economic challenges. These drugs can cost hundreds of thousands of dollars per patient per year, and insurance companies pay close attention to the value received for every dollar spent, prompting doctors and patients to think twice before considering a new therapy.

This unique, patient-first methodology specializes in helping patients and providers overcome reluctance to changing drugs by being a resource every step of the way. It gives them a competitive edge in addressing clinical and insurance challenges while solidifying relationships with physicians and patients.

Pharmacy pricing model—A core difference between the legacy and patient-first model lies in how pharmacies are compensated. With the legacy care model, pharmacies earn a margin on the products sold as they strive to keep millions of patients adherent to maintenance medications. When the focus is on the product instead of the patient, the pharmacy’s incentives can become misaligned. They’re focused more on monthly profits, which can lead them to attend to how much time hub service employees spend on the phone. Such incentives prevent pharmacies from being truly patient-centered and able to deliver the best possible care.

Addressing Human Need and Care Continuity

Patients with rare and orphan diseases require a high level of support and they benefit from high-touch service. It is important to work with a patient-first partner that offers a care team––including program manager, care coordinator, pharmacist, nurse, and specialists––that is 100% dedicated to the disease state, patient community, and therapy. This is a critical differentiator from other specialty pharmacies and hub service providers, which tend to push technology solutions that fail to address human needs and variability.

Manufacturers of every size can leverage this continuity of care for a streamlined, one-stop-shopping approach to optimize the patient journey. Furthermore, the longer a patient is adherent to treatment, the less frequently the manufacturer needs to invest in acquiring new patients. Also, this approach can help drive an adherence rate of nearly 90% for orphan and rare disease therapies, compared with industry standards of about 70% to 80% for specialty drugs and 50% for nonspecialty drugs.

In addition, a patient-first model can help manufacturers focus not simply on getting FDA approval, but on how the product affects patients’ lives. Most patients don’t fit into the right box for trials because they may be too sick, too healthy, or have comorbidities. This makes it difficult to identify them as trial participants, especially when they have not received a diagnosis because there has been no other form of treatment.

Facilitating the Patient Journey

A patient-first approach builds awareness and provides education programs to aid in understanding patient groups, letting patients know there is support to develop a drug and a comprehensive program based on their needs. Such an approach adds a layer of patient advocacy, helps physicians better understand the patient journey, and creates a patient registry. Additionally, the patient-first approach assesses patients in terms of social determinants of health, such as education level, socioeconomics, lifestyle choices, and other clinical and nonclinical issues.

This level of information plays a role in the design of clinical trials and during commercialization of the drug. For manufacturers, it presents an opportunity to obtain patient-reported outcomes outside of the clinical trial protocol.

When the product enters the distribution phase, further patient information is captured and determinations are made about what is important to the patient regarding outcomes. This support helps patients transition to the product beyond the clinical trial, prevents lapses in coverage, and optimizes continuity of care.

A patient-first approach is about the best means of bringing a product to market, understanding payer coverage, and providing patient education about their disease; it serves as a guide for the manufacturer every step of the way. Once the product reaches market, a patient-first approach provides long-term health management, genetic counseling, and, if appropriate, a nutritionist throughout the clinical trial’s duration.

Addressing Adherence Issues

When it comes to adherence, a patient-first model is designed to proactively reach out to patients on a weekly or monthly basis to make sure they are taking their medication. It identifies whether the patient needs lab work; ensures physicians get the results; and makes sure the patient has access to a coordinator and physician, if needed, when they have issues with a product. This helps the clinical trial site, many of which are teaching facilities or doctor’s offices, and is the best means of removing the burden of educating patients around adherence and handling the dispensing and scheduling of medications.

A patient-first approach minimizes the daily impact of living with rare and orphan diseases by employing a single, dedicated team to provide comprehensive, best-in-class services tailored to maximize therapeutic opportunities. This improves outcomes, enhances patients’ quality of life, and rapidly advances research, even during the coronavirus disease 2019 pandemic.

Manufacturers that adopt a patient-first approach will gain the focus and customization needed for longterm success and be well positioned to capitalize on the benefits of personalized medicine for patients and other stakeholders.

DONOVAN QUILL is president and CEO of Optime Care in Earth City, Missouri.


  1. Vogenberg FR, Barash CI, Pursel M. Personalized medicine: part 1: evolution and development into theranostics. P T. 2010;35(10):560-576.
  2. OptumRx Drug Pipeline Insights Report. Optum. 2020. Accessed March 10, 2021.
  3. Orphan drugs in the United States. IQVIA. December 3, 2020. Accessed March 19, 2021.
  4. FAQs about rare diseases. National Institutes of Health: Genetic and Rare Diseases Information Center. Updated January 26, 2021. Accessed March 9, 2021.
  5. Medicine is getting to grips with individuality. Economist. March 12, 2020. Accessed March 19, 2021.