A disease is considered rare when it affects fewer than 200,000 people. It’s estimated there are nearly 8,000 total rare diseases affecting over 25 million people in the U.S. alone. Some of these diseases have even rarer subtypes or mutations. This makes it extremely difficult to identify and recruit patients for clinical research – compounding the difficulty of an already complex process.
Prior to initiating a genetics-informed clinical trial, it’s important to understand the unique challenges genetic information presents and how genetics expertise can be used to develop strategies to navigate the nuances that arise.
Patient Identification in Action
Patient identification is often the biggest challenge facing rare disease clinical trials. The traditional recruitment methods rely heavily on large academic medical centers. This approach is not as successful with rare disease trials due to the extremely small population size at any given site.
Less traditional approaches to broaden a search, such as engaging community physicians, can increase the likelihood of finding candidates — especially when targeting rare genetic subtypes or specific mutations. However, most physicians are not experts in genetics and rely on expert genetic counselors to support their practice and their patients.
Patient identification is a critical first step that sets the stage for trial success. There are several ways to overcome common identification challenges such as:
- Creating a database of patient data derived from clinical services and genetic testing.
- Conducting direct outreach to targeted physicians, with messaging and solutions that address the challenges they face in diagnosing and testing their patients. Healthcare providers are barraged with educational and promotional materials, and rarely respond unless participation is simple to incorporate into their practices.
- Setting up a dedicated screening website that makes it easy for clinics to refer patients or for patients to self-refer. Empowering patient foundations and advocacy organizations to identify and refer patients is another useful tool to build and nurture relationships for effective outreach.
- Integrating telemedicine with sponsored genetic testing programs can also effectively identify patients. With telephone-based expert genetic counseling, e-consent, support in test ordering and authorization and genetic test kits shipped directly to patient homes, the burden of travel to a health center can be removed from the early stages of clinical trial screening.
Overcoming the Challenges in Enrolling Patients
There are several additional challenges in rare disease clinical trials that can be overcome with the help of genetics experts. These include:
- Provider Engagement: It is no longer enough to rely solely on academic research centers to find patients; an outreach strategy that goes directly into the community is needed. This is especially true for underserved and rural patient populations. However, it can be very difficult to engage providers who are not traditionally involved in clinical research and for those providers to know what tests to order to screen for rare diseases. Genetics specialists can guide not only physicians, but patients as well — this is paramount in order to navigate trial enrollment intricacies and provide support.
- Patient Recruitment: Converting patients from identified to enrolled can be difficult since most patients feel removed from the clinical trial process and often find it burdensome once it begins. As clinical research can take a considerable amount of time, many participants lose interest well before the trial begins, especially when there is not a continuous engagement plan. Many participants may drop out of a study to seek one on a faster schedule or one that is more convenient. Having a plan in place to retain patients, with tools to support the process, and providing dedicated patient engagement specialists empowers patients to make decisions and builds commitment, driving participation and engagement.
- Data Regulations: With numerous national regulations and standards regarding genetic-testing, informed consent and results disclosure, and genetic data use in clinical trials, it is important to know how data can and should be used. Clinical genetics expertise can be leveraged to create IRB-approved, compliant programs that maximize data for sponsors while protecting patients and ensuring adherence to guidelines at every step.
- Post-Marketing: Rare disease – or “orphan” – drugs are expensive, meaning it is critical to consider reimbursement policies and any pre-approval logistics. As a result, sponsors need to optimize the number of eligible patients and payer approvals, but also start thinking about payer issues early. Having relationships and policies that will lead to a high percentage of eligible patients being approved for coverage is critical for success.
Rare disease clinical trial success depends on a well-informed team to decode many of the challenges facing clinical research. Since genetic components add many intricacies to a clinical trial, patient identification and recruitment require strategic thinking and appropriate expertise and resources to ensure the trial’s success.
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