Getting to the Rare Diagnosis: 7.6 Years and 7 Different Doctors

For patients with rare disease, getting to the right diagnosis is just the beginning of their journey. Our Rare Conditions Care Value Program® offers personalized support to help patients manage their disease.
SafeGuardRx Affordability

Prescription accessibility and affordability for high-cost medications isn’t always about the price. Streamlining care, reducing waste and inefficiency, and surrounding patients with personalized care and support all in concert with innovative reimbursement strategies creates true value for patients and plan sponsors.

For the more than 30 million Americans who have a rare disease, one of the greatest and most costly challenges is getting to the right diagnosis and the right therapy. For many patients, that journey can be long and difficult: on average, 7.6 years and seven different doctors. Even then, determining the best treatment and managing the complexities of any rare disease requires an expertise only few physicians may have, given the rarity of the condition.

Rare Conditions Care Value Program

Our new Rare Conditions Care Value® (RCCV) program aims to reduce the burden of getting to the right diagnosis and treatment, and ensure success with that treatment once identified.

The program, which will begin January 1, 2019, will provide members whose plan is enrolled in RCCV with free access to the Second Opinion support service through a partnership with PinnacleCare®, a private health advisory firm that offers personalized guidance to expert medical opinions and research. Second Opinion offers members diagnosed with a rare disease with a second opinion from a top specialist in the field who will provide an expert assessment of the diagnosis and recommendations on the most effective treatment protocol.

In addition to Second Opinion, the Rare Conditions Care Value program is enhanced by the personalized patient support offered by our clinical pharmacists and nurses who specialize in the care of patients with rare disease at our Accredo specialty pharmacy. This support includes one-to-one counseling and, when the drug regimen requires, in-home nursing services to help patients better manage their disease and improve outcomes.

The program also helps plan sponsors prepare for and manage the high costs of rare-condition treatments through a variety of cost-containment tools and strategies – unique to each condition – when the medication is dispensed at Accredo.

Rare Is Not So Rare

The Rare Conditions Care Value program is addressing diseases that have recently seen significant increases in diagnosis and treatment utilization, such as hemophilia, Huntington’s disease, Gaucher’s disease, acromegaly, alpha-1 deficiency, hereditary angioedema and idiopathic pulmonary fibrosis. Among these disease states alone, the number of newly approved drugs that can treat the disease or the symptoms associated with the disease will rise from 46 in 2014, to 76 in 2020. These treatments can be very costly; for example, treatments for hereditary angioedema, a potentially life-threatening genetic condition occurring in as few as 1 in 50,000, can cost $2.2 million for one patient in a single year.

With more than 7,000 different rare diseases identified by the medical community so far, Americans living with a rare condition are as common as people living with diabetes. Among Express Scripts’ commercial book of business, the proportion of clients with at least one member who has one of the seven rare conditions addressed by the RCCV program has grown from 29 percent in 2014, to 41 percent in 2017. Just as the prevalence of rare disease has risen, so have the number of treatments available and the costs of treatment. Consider:

  • One-third of new FDA-approved drugs have an orphan designation.
  • The price of rare-condition medications has increased 54% in the last four years alone, with some drugs costing as much as one million dollars for a single year’s treatment.
  • Patient out-of-pocket costs for these conditions have also risen more than 41% since 2014 to an annual average of $1,790 in 2017, not accounting for manufacturer coupons or patient assistance programs, and may continue to grow as additional therapies in the pipeline come to market.

Second Opinions Matter

The years spent going to different doctors, getting myriad medical tests, managing paperwork and experimenting with numerous treatments is an ordeal for patients and their health, as well as for those who love and care for them.

PinnacleCare’s Second Opinion support service addresses the challenges faced by patients with rare diseases in identifying a diagnosis and treatment. In doing so, Second Opinion helps reduce the emotional, physical and financial burden on patients and plan sponsors associated with misdiagnosis, waste and inappropriate treatments, which can cost millions of dollars and impact years of a patient’s life. Among patients who have used PinnacleCare services, nearly 77 percent of engagements have resulted in a change of diagnosis, treatment or care, when working in coordination with a patient's pharmacy benefit manager and medical benefit plan.

Safe Guarding Plan Sponsors

Amazing scientific discoveries are life-changing for patients who have a rare disease, and the drug pipeline is full of promise for many more patients. But these costly and complex therapies can devastate a plan. Having a strategy for the treatment of rare diseases can help plan sponsors ease the financial, emotional and physical burden of rare disease for their members.

Getting to the right diagnosis and the right therapy is critically important for people with a rare disease. Combining the benefits of PinnacleCare’s Second Opinion program with the expertise and care delivered by the specialist pharmacists in our Accredo Specialty Pharmacy can make a tremendous difference in the patient’s quality of life and substantially reduce wasteful spending.

The Rare Conditions Care Value program is part of Express Scripts’ SafeGuardRx® suite of solutions that offer affordable access to medication classes that pose the largest budgetary threat to payers, including inflammatory conditions, oncology, diabetes, high cholesterol, multiple sclerosis, pulmonary conditions and hepatitis C. Since 2015, Express Scripts has introduced 10 value-based programs that improve access to innovative drugs and provide a pathway to the best care offered to all patients of Accredo through specialist pharmacists at disease-specific Therapeutic Resource Centers.

Stay Informed
Subscribe to our newsletter for regular updates and the latest thinking from our experts.