Program Provides Second Opinion About Rare Disease Diagnosis, Care

A Rare Conditions Care Value (RCCV) program providing second opinions from experts for patients with rare diseases like Huntington’s disease was launched recently by two U.S. health management companies, Express Scripts and Pinnacle Care.

The program, aptly named “Second Opinion,” offers another assessment regarding diagnosis and disease treatment from a specialist in the field, so patients can access recommendations on the most effective treatment protocols and symptom management strategies.

This service could be especially important for patients who have rare diseases and some physicians’  knowledge and experience may be limited.

Express Scripts provides pharmacy benefit management services. PinnacleCare is a private health advisory firm that offers personalized guidance and expert case review. Members whose plans enroll in the RCCV program will have free access to the Second Opinion service, which is available through the company’s SafeGuardRx suite of solutions.

People with rare diseases wait an average of 7.6 years to receive an official diagnosis. Besides the costs involved in just receiving a definitive diagnosis, patients then must find the best treatment, which is another journey in itself.

Most likely, a second opinion from an expert would help resolve clinical questions and bring emotional reassurance to patients struggling with symptoms of a rare disease.

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

A second opinion service could help Huntington’s patients significantly. Today, genetic testing for a mutation in the HTT gene can help doctors diagnose the disease, and counseling can help families with Huntington’s gene mutations make informed reproductive choices.

When patients already display symptoms of the disease, magnetic resonance imaging (MRI) or computerized tomography (CT) scans also can be used to look for changes in the brain and confirm a diagnosis.

The new RCCV service should help reduce the emotional, physical and financial burden off patients, as well as the number of misdiagnoses and inaccurate treatment plans. In addition to Huntington’s it also addresses other rare diseases such idiopathic pulmonary fibrosis (IPF), hemophilia, alpha-1 deficiency, acromegaly, Gaucher disease, and hereditary angioedema.

According to Express Scripts’ estimates, the proportion of patients with one of these rare diseases covered by their RCCV Program went from 29 percent in 2014, to 41 percent in 2017.

“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.”

Today, more than 7,000 rare conditions have been identified. The number of Americans living with one of these conditions is nearly the same as that of Americans living with diabetes.

Of note, the price of medications for rare diseases has increased 54 percent in the past four years, and patients’ out-of-pocket costs for rare conditions averaged an annual $1,790 in 2017.

The RCCV program, apart from the Second Opinion service, also offers patient support by specialized clinical pharmacists and nurses, including one-to-one counseling and in-home nursing services.