Express Scripts Give Patients a Faster Path to Rare Disease Diagnosis

June 4, 2018

New Rare Conditions Care Value ProgramSM expands support services to facilitate second opinions that can improve health outcomes, reduce wasteful spending

ST. LOUIS and BALTIMORE, May 31, 2018 — For any patient with a rare disease, the journey to the right diagnosis and treatment can be long and difficult. On average, it can take 7.6 years and seven different doctors before a patient suffering from the symptoms of a rare disease finally receives a correct diagnosis. Even then, determining the best treatment and managing the complexities of any rare disease can require expertise that many physicians lack given the relatively small patient population affected by the condition. Many times, a second opinion from an expert can help resolve clinical questions and bring emotional reassurance to patients struggling with the symptoms of a rare disease.

Express Scripts (NASDAQ: ESRX) today announced a new Rare Conditions Care ValueSM (RCCV) program with the introduction of a support service known as Second Opinion in partnership with PinnacleCare, a private health advisory firm that offers personalized guidance and expert case review. Members whose plan enrolls in the RCCV program will have free access to Second Opinion, a potentially life-altering service that offers 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.

The Second Opinion support service addresses the challenges that patients with rare diseases face in securing 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.

“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,” said Glen Stettin, M.D., senior vice president of clinical, research and new solutions at Express Scripts. “Getting to the right diagnosis and the right therapy is critically important for the more than 30 million Americans currently 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.”

Rare Conditions are not so Rare
The Rare Conditions Care Value (RCCV) program is addressing rare diseases that have recently seen significant increases in diagnosis and treatment utilization, such as hemophilia, Huntington disease, Gaucher disease, acromegaly, alpha-1 antitrypsin 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, 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 percent 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 percent 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.

“Rare disease trends are growing on all fronts – more patients, new drugs and higher costs,” said Miles J. Varn, M.D., chief medical officer of PinnacleCare. “In order to provide affordable access to these newer therapies, we need to make sure that the diagnosis is correct, and that the pharmaceutical treatment plan is based upon expert best practices. Working with Express Scripts, we’ll help patients achieve better health outcomes and ensure the care they receive is thoughtful and cost effective.”

Rare Conditions Care Value Program
In addition to the Second Opinion service, the Rare Conditions Care Value program is enhanced by personalized patient support from clinical pharmacists and nurses specializing in the care of patients with rare disease through the services offered by our Accredo specialty pharmacy. This support includes one-to-one counseling and, when a drug regimen so requires, in-home nursing services to help patients better manage their disease and improve outcomes. The program also helps clients prepare for and manage the high costs of rare-condition treatments through a variety of cost-containment tools and strategies.

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.

About Express Scripts
Express Scripts is leading the way for tens of millions of people by aligning with plan sponsors, taking bold action and delivering patient-centered care to make better health more affordable and accessible.

Headquartered in St. Louis, Express Scripts provides a full range of integrated pharmacy benefit management services, including home delivery pharmacy care, specialty pharmacy care and benefit management, benefit-design consultation, drug utilization review, formulary management and medical and drug data analysis, that guide patients and plans toward better health by prioritizing care and increasing savings. Our services drive down the cost of care for employer-funded, Medicare, Medicaid and Public Exchange plans, and create the headroom needed to keep patients’ cost-share low, access broad, and do more for those who are challenged by high out-of-pocket costs. Express Scripts also distributes a full range of biopharmaceutical products and offers innovative medical benefit management services.

For more information, visit or follow @ExpressScripts on Twitter.

About PinnacleCare
PinnacleCare is a private health advisory with a mission to ensure that all members realize their highest expectations for their health and wellness. PinnacleCare’s personalized approach to health care is a unique combination of exceptional medical resources, an unmatched range of services and outstanding care allowing members efficient access to the finest health care experiences, expert guidance through the complex healthcare system by expert health advisors, and assurance in leading the healthiest lives possible, at home and abroad.

Twitter: @PinnacleCare