Bright Future for Rare Disease Patients Driven by Innovations Including Genomics and Personalized Medicine, But Some Challenges Remain

International Bio Convention

CSL Behring’s Bob Repella joined NORD’s Pam Gavin for a wide-ranging discussion about rare diseases at the 2016 BIO International Convention. The following is excerpted from his remarks.

By Bob Repella

Rare diseases are serious and often debilitating conditions that have a tremendous impact on 350 million patients worldwide, about half of whom are children, and their families. Today we are on the brink of significantly improving their lives through rare disease awareness, early diagnosis and innovative treatments.

More therapies are available today for previously unmet needs, and there are greater choices for patients than ever before. But even with this progress, a great deal of work remains to be done. Over 90% of the approximately 7,000 rare diseases have no treatment available, and there are still challenges to accessing existing therapies. Nevertheless, the trends overall are positive.

Promising developments

There are promising developments in medical information, technology, and genomics, as well as in new treatment therapies. The explosion in medical information has resulted in more engaged patients and providers. New tools and easier access to information are leading to improved awareness of and diagnosis of rare diseases.

New tools and easier access to information are leading to improved awareness of and diagnosis of rare diseases.

In addition, creation of sophisticated databases and analyses is leading to better natural histories and identification of patients at risk for rare diseases, greater understanding of underlying disease mechanisms, outcomes data to demonstrate effectiveness and guide treatment, and ultimately to better care.

Healthcare providers and patients can now monitor and optimize treatment through better technology, including wearable and handheld devices and phone apps to aid in adherence to treatment and improvement in care. We know the benefit of this firsthand at CSL Behring where we are pairing such technologies with our therapies. There is also a trend in moving treatment into patients’ homes to save money, time, and infection risk and improve quality of life.

Genomics and personalized medicine

In terms of the promise of genomics for rare disease populations, it’s all about diagnosing sooner, improving the ability to get the right treatment to the right patient at the right time, and even finding a cure. For example, expanded newborn screening has improved early diagnosis of some rare diseases. In the case of severe combined immunodeficiency (SCID), newborn screening can mean a cure if done soon after birth. If not done soon after birth, death often results.

In the plasma therapeutics space we see various examples of personalized medicine such as flexible dosage, and matching coagulation dosing to individuals’ propensity to bleed and their lifestyle.

Public policy, legislation and regulation

Public policies in legislation and regulation can have a positive or adverse effect on helping to address rare disease patient needs. We have the Orphan Drug Act in the U.S., which has unquestionably aided in encouraging and facilitating the development of orphan therapies.

But a tax writing committee subsequently put forth a proposal that would eliminate the orphan drug tax credit, which is integral to the success of the Orphan Drug Act. (An Ernst and Young study commissioned by NORD and the Biotechnology Innovation Organization shows that without the orphan drug tax credit, there would be 33% fewer orphan therapies produced over the next decade). Rare disease therapies need encouragement, not discouragement.

Pam Gavin and the National Organization for Rare Disorders (NORD) have done a tremendous job working to affect public policy and regulations that encourage the development of rare disease therapies. For example, NORD called for regulatory agencies to demonstrate and codify flexibility in clinical trials and licensing requirements for rare disease therapies due to the special nature of rare diseases, including the challenges of conducting trials in very small patient populations.

Access to care

We also need to ensure patients have access to rare disease therapies. If the community makes great strides in diagnosis and awareness, and manufacturers meet the challenges of researching and producing therapies for difficult conditions in small populations, it would be tragic if patients could not readily access those therapies due to negative access policies.

We also need to ensure patients have access to rare disease therapies.

For instance, high cost-sharing aimed at rare disease conditions defies the purpose of insurance, is discriminatory and harms care. Unfortunately, it is a growing trend. We believe an answer is to have access decisions reflect value to the patient and society and not just on the cost of the therapies. The value of therapies is enormous. (Read a previous post on BioBlog – “The Value of Pharmaceutical Products to Patients and the Healthcare System Versus the Cost”).

Value-based access decisions require engagement with payers and payer willingness to truly consider what access to these rare disease therapies means to patients, and differentiate assessment requirements to reflect that importance and the broader societal benefits of treating a rare condition.

At CSL Behring, we live by the mantra that it really is all about the patients and delivering on our promise to them for more than 100 years. If biotech companies, government, and payers all keep our focus on what is best for patients, we can continue to meet today’s needs while maximizing the tremendous promise of tomorrow for people with rare diseases.

Bob Repella

Bob Repella is Executive Vice President, Commercial Operations at CSL Behring


4 thoughts on Bright Future for Rare Disease Patients Driven by Innovations Including Genomics and Personalized Medicine, But Some Challenges Remain

  1. It’s good to see CSL leaders speaking out for patients and their needs. What is CSL doing to improve patient access to rare disease therapies?

    • Thanks for your question Maureen. At CSL Behring we deliver on our promise to patients in a number of ways. These include collaborating with patient advocacy organizations worldwide to impact public policies that affect patient access to care. We also work with international trade associations to promote the availability of and access to safe and effective plasma protein and recombinant therapeutics for all patients. In the U.S., our Reimbursement Resource Center helps patients understand medical service costs and related insurance matters, and our Patient Assistance Program provides access to our therapies for qualified patients who are uninsured or underinsured.

  2. Thanks. Can you send me a link to more information on your Patient Assistance Program?

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