Have you ever wondered how a rare disease can take control of a person’s life? The deteriorating health, being unable to receive an accurate diagnosis, and more importantly finding an effective treatment. You may already be familiar with this scenario.

There are seven thousand rare diseases that affect approximately thirty million individuals in the United States. This equates to one in ten people. In the majority of cases, the cause can be traced to changes or mutations in one single gene.

This leaves patients with a long arduous journey trying to get an accurate diagnosis only to be met with a number of obstacles. Even after receiving the correct diagnosis, the patients face other barriers. One such barrier is the extremely high cost of specialty drugs or gene therapies that could save their lives. The cost of specialty drugs has risen at a faster pace than the GDP in the last decade.

Some drugs are available but are not covered by affordable or accessible healthcare plans. Surprisingly, over ninety-five percent of patients with rare diseases do not have an FDA-approved therapy for their disease. Not only is this a burden for patients and their families but the issue has become a public health problem.

Patients and their caregivers should note that NORD maintains a Rare Disease Database that provides information for patients about certain rare diseases.

An Encouraging Outlook for Specialty Drugs

Increased innovation and knowledge of various diseases have given rise to many novel therapies. The number of rare disease patients is rising with some patients having several conditions that require specialty drugs.

Coverage may be through a pharmacy or medical benefit and determined by:

• The location of the drug that is being administered
• Whether the patient self-injects or takes a pill (at home)

If the drug is administered at home it would be covered by a pharmacy benefit.

Should the drug be administered at a hospital, doctor’s office, or clinic it would be covered by the medical benefits portion of their health insurance plan.

Low-Cost Opportunities

Coupon/copay programs can be used by both the payer and patient to offset funds provided by the manufacturer for therapy charges. The use of carve-outs takes specialty drugs from standard prescription drug administration to a specialty administrator or a pharmacy benefits administrator.

About Gene Therapies

Imagine a world where cancer, blood disorders, and other currently incurable diseases can be not just treated but cured. With the continued development of new products, that will become a reality.

Currently, there are over nine hundred new drug applications for the study of gene therapy products. The goal is not just to treat symptoms of a disease but to cure the genetic abnormalities that cause the disease.

The FDA adds additional momentum with its goal of approving ten to twenty gene therapies each year.

A loan assistance program may provide solutions to payer coverage. The premise is to convert the upfront cost of expensive therapies to smaller payments over a specific time period.

While these issues are currently being discussed, payment models are being developed for new gene therapies and specialty drugs. These improvements are a good indication of the need for coordination and flexibility.