InformedDNA: telemedicine connects genetic patients to clinical care

Recruiting and retaining patients is a formidable task for any clinical trial—and the process becomes even more challenging when the condition at the center of the research is a rare genetic disease. Pile on other complications such as concerned physicians and the current global pandemic, and the web becomes even more tangled.

Karmen Trzupek (KT), director of clinical trial services for InformedDNA, spoke with Outsourcing-Pharma (OSP) about the firm’s fascinating work in genetic testing and counseling, and how use of telemedicine could benefit everyone involved.

OSP: Could you please tell us a little bit about InformedDNA—what the company does, how it got started, and who you work with/for day to day?​

KT: InformedDNA got started 13 years ago as a telemedicine genetic counseling company. We found there were many, many more patients who would benefit from genetic services than were actually getting it.

Patients receiving genetic services were the ones who managed to make it to large genetic centers; most never do. I would say that’s still the core of what we do—deliver specialty-level genetic care to patients, supporting providers all over the country.

We do what we do regardless of geographic location, breaking down various barriers to increase access to services. A doctor might order genetic testing, and they don’t know anything about an ultra-rare genetic decision.

OSP: Could you tell us little bit about telemedicine, and how its use in healthcare in general, and clinical trials in specific, has evolved over recent years?​

KT: When people think about telemedicine, they think of a doctor over video looking at a patient, trying to diagnose them or conduct triage. It’s a whole lot more than that. We've been facilitating genetic testing and conducting genetic counseling since we started 13 years ago. At the time, it was really, really unique. Now, it’s much more embraced across medicine.

We partner some unique services with more traditional services. Some clinics are using it to be able to extend the way that they follow patients over period of time. Patients don’t travel in as often as they might typically be expected to, given their disease. Broadly, the use of telemedicine has evolved. Being used increasingly to support standard medical practice, instead of being seen as completely different.

Most of these appointments are just talking. Medical records are shared, that’s just talking but easy to share given technology. No reason that can’t be done over the phone.

OSP: Why does the use of telemedicine make sense for use in clinical trials—how does it benefit sites, sponsors, patients and other stakeholders?​

KT: I think the No. 1 reason why telemedicine makes sense in trials is, if you ask any sponsor what’s the main challenge, most will tell you patient identification. When you start to think about genetic diseases, or anything involved in gene-targeted therapies, we’re talking about rare diseases. We’re talking about a specific gene, sometimes a specific mutation.

You might have the ability to find all the patients you want to find at a few academic and medical centers, but how do you ID patients? Historically, you might rely on those clinical research centers to just get more patients in, maybe get the word out to their referral network.

There’s a variety of problems with that. One, and it’s a big one, doctors might not be so keen on sending all their patients to a big center. Then they stand to lose those patients, and they want to continue managing care for those patients.

If we use telemedicine to support those patients, we can tell the doctors we can offer screening to the patients, provide support, explain our services and help them understand. When we’re done, all those patients are going back to their doctors. The ones that qualify, doctors can then refer them for evaluation, which means you get higher community physician involvement. That gets more physicians sending patients for clinical trial evaluation.

OSP: Why have some sites and sponsors been a little reluctant to use telemedicine in clinical research?​

KT: It’s mostly a matter of education. Initially some doctors and clinical trial sites might look at it as saying, “You’re not set up to do this—we’re going to take these patients from you.”

We’re not doing that. We’re trying to increase the number of participating doctors and patients. We give them a greater level of support, then send them back to their referring docs.

Sometimes it’s also I think it’s a matter of pride. “Are you telling me I can’t do this? Are you saying I can’t interpret that? Will you take this patient from me?” That’s not what we’re saying.

Our telemedicine service for inherited retinal disease began with very complicated patients. By and large, this isn’t a matter of saying to doctors, “You don’t have the expertise.”

As a doctor, you see a lot of patients in a limited amount of time. How can you possibly sit down with that patient, take the time needed to explain a complex report, and address all their concerns, explain the research, talk about whether family members should get tested? That’s impossible. So, it’s mostly education and recognizing where those concerns lie.

OSP: How could such reluctant players be convinced to step up use of telemedicine?​

KT: Increasingly we’re seeing that physicians are being asked by patients whether they would qualify for trials. Patients are becoming more educated and involved; there’s a level of responsibility they’re starting to feel.

Doctors are starting to feel, “I want to make sure I’m doing the right thing.” They ask about trials, what studies might be appropriate, how can they start partnering with them.

This doesn’t have to be complicated. You don’t have to figure out what’s the best testing lab or program, how to set up a portal, etc. Just refer the patient to us and we’ll do it all.

OSP: Could you talk about your work with Spark Therapeutics?​

KT: We’ve worked with a bunch of different sponsors. Spark is well known—they have the illustrious designation of being the first company FDA approved for gene therapy for a genetic condition. There are a number of other sponsors who’ve since had gene therapy approved.

We directly communicated with them and had a conversation about telemedicine. We really helped them to appreciate that a genetic testing support program, with genetic counseling baked in, was a really great idea.

We helped to develop and implement a program to offer genetic counseling to anyone that didn’t have access to it. It brought in hundreds of community physicians that had never ordered a genetic test in their career, which proved to be a pivotal moment for a lot of physicians in that community—“Hey, this is something I can incorporate in my own practice.”

They would order the test, and check the box for genetic counseling. Education happened in the front, to help doctors understand who we are and what we do, and what they would get from us, which is a full report.

They love all the reports and information they get. Through the program, we’ve seen something like thousands of patients who otherwise wouldn’t have been able to get tested. We also got the genetic counseling support, to help them understand what it meant.

When a patient gets tested, you don’t want to give them a report that just says “negative.” The patient gives up. Instead, you give them a counselor that goes through the report line by line. They say, “you might not qualify for the therapy, but you did qualify for this.”

They also might worry about passing a condition down, but with this, they could see, “All my life I worried my kids were going to get this—now you’re telling me they’re not.”

OSP: How could the use of telemedicine technology help clinical trials in the age of COVID-19?​

KT: We’re in the middle of an unprecedented healthcare crisis. Some of these patients are not going into the doctor’s office for appointments. They put things off, or cancel them completely. Some clinics are closed entirely. Patients are not going into the doctor for anything non-critical.

In some cases, that’s meant total a stop in clinical trial progress. For companies not working on therapies for COVID-19, does it mean all their trials stop?

One of the most time-consuming components is patient ID. How do you find your patient, how do you get your patient engaged, what happens with the initial screening process?

In a gene-based therapy, in those kinds of therapies, the most difficult criteria to meet are the genetic criteria. Using telemedicine, we can continue to screen and interview patients. The ones who test in, we can talk to them about a study, long-term engagement, and possibly bridge to when that site will be opened back up.