New Program Offers Second Expert Opinion to Patients with Rare Diseases Like Hemophilia

Margarida Azevedo, MSc avatar

by Margarida Azevedo, MSc |

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Express Scripts has teamed up with PinnacleCare to include in its new Rare Conditions Care Value (RCCV) program a service that provides patients with rare diseases like hemophilia a second opinion from a specialist care provider.

The initiative, simply called Second Opinion, is designed to give patients an additional assessment from top experts on their diagnosis and recommendations on effective treatments and symptom management strategies.

Express Scripts, a pharmacy benefits services provider, will offer members whose plan includes the RCCV program free access to Second Opinion through its partnership with PinnacleCare, a private health advisory firm that offers personalized guidance.

“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,” Glen Stettin, MD, senior vice president of clinical, research and new solutions at Express Scripts, said in a press release.

It can take nearly eight years for individuals with rare diseases to receive an official diagnosis, often involving visits to multiple doctors and additional costs. Even after receiving a confirmed diagnosis, it can take time to determine the best treatment and management of the disease.

A second opinion from a specialist could help accelerate this process, resolving questions and bringing emotional reassurance to those who have symptoms of a rare disease.

The Second Opinion service is intended to help reduce the emotional, physical, and financial burden on patients, as well as decrease the number of misdiagnoses, and time and funds wasted, which can impact a person’s life.

Express Scripts’ RCCV program addresses rare diseases that have recently seen significant increases in diagnosis and treatment, such as hemophilia, Huntington’s disease, and Gaucher disease, among others.

In addition to Second Opinion, the program offers counseling, in-home nursing services when necessary, and assistance with managing the costs of rare disease treatments.

Costs are a particularly significant concern. As the number of patients with rare diseases rise, so do the prices of their medicines and treatments. The price of medications for rare diseases increased 54 percent in the past four years, and patients’ out-of-pocket expenses for these conditions have risen more than 41 percent since 2014, averaging $1,790 in 2017.

Among Express Scripts’ clients alone, the percentage of patients with one of the seven rare conditions included in the RCCV program grew from 29 percent in 2014 to 41 percent in 2017.

Moreover, the number of Americans living with a rare disease is estimated to be similar to the number of Americans with diabetes.

According to the company, a third of the new therapies approved by the U.S. Food and Drug Administration have an orphan designation, which indicates a treatment’s use for a rare disease.

“Rare disease trends are growing on all fronts — more patients, new drugs and higher costs,” said Miles J. Varn, MD, 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.”