The relatively new field of pharmacogenomics — the study of how genes affect a person’s response to medications — is leading to an acceleration in the use of tailored drugs to treat a wide range of health issues, including many genetic diseases. But finding patients to participate in clinical trials presents unique challenges for pharmaceutical and biotech companies. InformedDNA’s Karmen Trzupek offers insights into the importance of incorporating genetics into clinical trials, including finding and engaging patients to improve diagnosis and treatment protocols.

More pharmaceutical companies are incorporating genetics into their clinical trials. What are the top reasons for this?

In 2018, more novel drugs were approved for the treatment of rare diseases with orphan drug designation than in any other year since the passage of the Orphan Drug Act of 1983. This clear push toward developing therapies for rare diseases is occurring for a number of reasons. One reason is that companies receive seven-year market exclusivity granted to drugs that treat rare diseases. The bigger reason, though, is that genetic diseases offer important insights into the mechanisms of how more common diseases occur.

For example, common diseases such as coronary artery disease and diabetes are very complex disorders that result from a combination of genetic and non-genetic factors (e.g., environmental and lifestyle). In contrast, hereditary genetic diseases occur because of an underlying mutation in a single specific gene. Therapies that effectively target and treat the genetic cause of disease lead to a mechanistic approach to treatment that filters out all the “noise” from non-genetic factors. Drug companies have a growing interest in the treatment of rare genetic diseases in part because they offer a window into biological pathways and genes that may overlap with related common conditions. Once there is proof of principle with treatments for genetic conditions, common diseases may also be treated more effectively.

How are pharmaceutical companies finding patients with rare genetic diseases as candidates for their clinical trials? 

When a pharmaceutical company is identifying a population of patients who have a particular genetic sub-type of disease or particular genetic mutation, they typically approach the principal investigators (PIs) at participating clinical trial sites, as well as physicians who refer to those centers. To find eligible clinical trial candidates, each clinic searches their EMR for patients with mutations in a particular gene. But while this may be an effective strategy for relatively common diseases with many affected individuals, it’s much harder to apply for most rare diseases or diseases where there are many causative genes underlying that condition.

That’s one of the biggest challenges: Pharma companies using the more traditional model of partnering with clinical trial sites cannot find enough patients with mutations in specific genes to fulfill study needs, leaving them asking how they will identify these rare patient populations. Many potentially eligible patients never travel to an academic clinical research center and haven’t undergone genetic testing.  It’s clear that as pharmaceutical companies get more involved in rare genetic diseases, they have to look beyond large academic research centers to find and engage patient populations more broadly. This may involve reaching out to community-based physicians who don’t typically order genetic testing.

How are patients initially identified for genetic counseling as part of screening for clinical trials?

Patients are identified for genetic counseling in a number of ways. Increasingly, physicians are eager to order genetic testing for their patients but are not well-equipped to order, interpret and communicate genetic test results. InformedDNA genetic counselors serve as an extension of clinical teams through physician and staff support and patient counseling. Physicians and patients both appreciate access to genetics specialists, while maintaining their current, trusted doctor/patient relationship.

We also work with patient foundations and advocacy organizations. Often, patient foundations have registries offering a way for patients to save information about themselves, their disease, and genetic test results. This way, when a clinical trial is enrolling, pharmaceutical companies can reach out to the patient foundation to help identify the most appropriate  patients. Typically, the foundations contact patients about clinical trial prospects and refer them to the source for further information. InformedDNA offers patients objective, unbiased answers to their questions. We have learned that patients who have access to lab-independent genetic counselors are much more likely to consider clinical trial participation than if the pharmaceutical company is the first point of contact.

In a current example, InformedDNA is working with the Foundation Fighting Blindness to increase the use of genetic testing for inherited retinal degenerative diseases. In less than two years, more than 4,000 patients have received genetic testing and counseling, many of whom had waited decades to learn more about the underlying cause of their genetic disease. This, in turn, supports drug development by building a robust registry of genotyped patients interested in participating in clinical trials.

Are there other challenges in identifying patients with rare diseases as candidates for clinical trials?

Yes. Another challenge we frequently encounter is managing patients’ hopes and expectations, both before and after genetic testing to determine potential eligibility for clinical trial participation.

We recently worked with a pharma company that was testing a specific gene therapy for inherited retinal dystrophy. Only about three percent of patients tested would ultimately qualify for treatment. Had they used the approach of sending patients to academic research centers for screening, precious time and resources would’ve been wasted and many participants would have been disappointed after finding out that they would not qualify for the trial.

The InformedDNA model of using telephone-based genetic counseling and remote genetic test facilitation for clinical trial screening benefits all stakeholders. Patients can talk to a board-certified genetic counselor about the potential utility of genetic testing, and even those who are not eligible for treatment benefit from genetic counseling and education about current research and available treatment avenues. Pharmaceutical companies realize a huge increase in efficiency and cost savings because they are only paying for on-site evaluations for the small number of individuals who test positive and potentially qualify for the clinical trial.

At InformedDNA, we believe that genetic testing, genetic counseling, and access to clinical trials should be available to everyone regardless of location, demographics, culture, or socioeconomic status. Through our work with patients, providers and pharma sponsors and CROs, we are honored to help accelerate the pace of clinical trial research and therapy utilizing the largest and most experienced nationwide, full-time staff of lab-independent genetics specialists.

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