Digital DNA: Genetic Counselling – An Interview with Jill Davies
The Digital DNA series explores the role of large-scale genetic testing in science, industry and society. We aim to understand both the benefits and risks of this emerging technology and see what the future may hold.
We talked to Jill Davies, CEO of GeneMatters. The company provides genetic counselling to patients through a telehealth platform to improve access.
FLG: Can You Introduce GeneMatters and the Work that you Do?
JD: Gene Matters is a telehealth company that offers genetic counselling services over phone or video. Genetic counsellors work with patients and doctors to help them understand the results of genetic testing and what they mean for them. Over the years as the genetic testing market has grown substantially, we continue to see longer waiting times for genetic counsellors. Access to genetic counselling has become a real problem and is causing a ‘bottleneck’ in delivering genomics related healthcare to patients. We deliver our genetic counselling services through our telehealth platform, which was built by genetic counsellors, for genetic counsellors.
We mainly partner with health systems, hospitals, labs, academic medical centres so that they can expand their genetic counselling reach. Although there’s coverage gaps in many parts of the world our focus right now is US and Canada. Ultimately, we hope to expand beyond those markets. The ultimate goal is to make genetic counselling more accessible and reach more patients quicker.
FLG: How Did You get Involved with GeneMatters?
JD: I’ve been in the genetic counselling field for 20 years working in various roles, starting in clinical and then moving into more programme management, product development and business development. I had previously done some consulting for a video telemedicine company – getting doctors to patients on demand – and they were interested in bringing other medical services to their platform, including genetic counselling.
We worked with engineers to see how we could deliver the telehealth service, got the input of genetic counsellors and patients and talked to companies that we could partner with to deliver the service.
We took the business plan and pitched it to a technology company that was based in Minneapolis, who decided to co-found GeneMatters with me. We started the company in a tech incubator, which is an interesting model as it allows access to a number of shared resources including engineers, HR, finance and legal. This provided everything we needed to help accelerate the growth of the company, so we were able to get the product to market really quickly. We are still rapidly growing and working on a lot of larger contracts.
FLG: Can You Take Us Through the Whole Process of Genetic Counselling?
JD: Most of the patients that we see are already identified as candidates for genetic testing within the health system or occasionally because they’ve been proactively doing research themselves and are pushing to get their own care moved forwards. We are usually working alongside oncologists or other practitioners who don’t have time to spend with their patients to educate them on genetics.
Often these clinicians rely on genetic counsellors’ specialized training in genetics and counselling, including the latest research on genetics; it’s really challenging for any individual to do this especially if it’s outside their practice area. The clinicians therefore identify people who would benefit from genetic testing and then refer them to a genetic counsellor on site or at GeneMatters. GeneMatters often works in tandem with internal genetic counsellors, providing additional capacity.
We usually recommend that patients have genetic counselling prior to testing so they can understand what genetic testing results might mean for them. The genetic counsellor can fully evaluate genetic and family history to determine what the right test might be for the right patient. There are over 75,000 different genetic tests on the market right now, so your average provider has a really hard time keeping up with the new developments. We’ll recommend a test and provide a summary back to the clinician through our platform. The clinic will move forward and arrange the test for the patient if that is what they want to do. Sometimes pre-test counselling doesn’t result in testing as people opt out, deciding that it’s not the type of information they want or maybe it’s not the right time.
When the results come back, we usually deliver the post-test counselling results to both the doctor and the patient. We’ll communicate directly with the clinician and present a summary of the consult with recommendations to them through the GeneMatters platform. This ensures we can successfully transfer all the data allowing the doctors to continue the care and delivery that they’ve been providing previous to us becoming involved.
FLG: What are the Challenges of Communicating Genetic Test Results to Patients?
JD: Sometimes the patient has a genetic variant where it’s not clear if it’s a positive or negative result for the diagnosis of a certain genetic disease. There are also genes that affect pre-disposition to a disease where it is not known how a patient’s variant affects their disease risk.
These variants are known as a ‘variants of unknown significance’. Over time these variants often get classified as one or the other as the literature updates all the time. We’ll usually provide post-test counselling to discuss positive and unknown variants. The doctors will call a counsellor if there are any outstanding questions that they or the patients have.
The responsibility of updating variants normally lies with the lab that provides the genetic test. If there was a change in a variant classification, they would communicate it back to the clinician that ordered the test. The clinician then can request a second genetic counselling session so we can communicate the changed result to the patient. However, often this happens years later and someone that has had a genetic test may have lost contact with the lab or healthcare provider. Ensuring that the information is communicated to the patient in a timely manner across health systems and even states is difficult.
FLG: How does Genetic Counselling Differ for Consumer Genetic Testing?
JD: We don’t do a lot of work to target the consumer genetic testing market, although other genetic counselling companies do. We do see some patients who find genetic testing on their own and seek out counselling with us. I would say it tends to be a complex market because of the expectations people have for their genetic test. The results they get might not be what thought, and they often finish with a lot more questions than answers.
It’s often the case that either people don’t present with any illness or they have a complex medical history and they are hoping that their consumer genetic test will help them understand the reason for their symptoms. Often the challenge is that they are either coming seeking answers to complex symptoms or they are healthy and curious; which are two completely different sets of patients.
With the healthy curious patients, we can let them know what the limitations of the testing were and if there are other tests that are more appropriate for them. We often have to explain that the tests don’t cover everything in the genome and is therefore limited in terms of what it was testing. It’s a lot of correcting myths I would say! Dispelling myths around how accurate consumer genetic testing is and the limitations they are based on; they are not a diagnostic test.
We do try to help patients with complex symptomologies. We direct them to what might be a more appropriate test or a more appropriate referral for them. They might need a specialist doctor and we’ll try to help with that and point them in the right direction. These patients are often a bit more challenging and lengthier in terms of consult time, but we can certainly handle and address their issues.
FLG: What Organisations Do You Work with to Provide Genetic Counselling?
JD: We usually work with hospitals to support an oncology or a reproductive department and help clinicians identify who are good candidates for genetic testing.
We work with the labs that provide genetic tests. Often labs want to deliver genetic counselling alongside their test so they can effectively compete with other test providers, while reassuring clinicians that the genetic counselling they offer will help both them and patients understand the test results. We can reduce the workload burden of the labs by providing integration of their systems with the GeneMatters platform.
We also support delivery of research genetic counselling. There is a big movement for therapeutic companies to offer sponsored testing. Typically, these are companies looking to identify rare disease candidates for clinical trials and require individuals who have a certain gene or genetic mutation to make them eligible for a specific drug that targets that gene mutation. We are supporting a number of these types of programmes by working with pharmaceutical companies and labs.
FLG: What are the Advantages of Telehealth Counselling to both Genetic Counsellors and Patients?
JD: In many parts of the country there is either no access to genetic counselling or patients have to drive for five hours to their closest genetics clinic. Through the platform patients can have appointments at their convenience; the counselling can be delivered to them at home or at work, so they don’t have to take time off to drive to their appointment. The patient’s health system does also not have to refer them somewhere else meaning clinicians can keep patients and support them within their own region.
Our genetic counsellors are a blend of full time, part time and contract employees. We are really flexible with what we offer our genetic counsellors – if they either want to work part time from home, have flexible hours or supplement their income because they are working somewhere else, they can. GeneMatters also allows counsellors to have access to large variety of patients to work with. Often genetic counsellors don’t work across multiple disciplines and specialise in areas including oncology or reproductive. We allow counsellors to have more diversity in the patients they are seeing and as a result they are constantly learning about different practice areas – particularly rare disease areas. It therefore promotes professional development and lets counsellors stay attached to their field as it grows.
Our technology automates a lot of the routine aspects of what a genetic counsellor will do in their day to day clinical practice, so it allows them to focus their time when they are in consult with the patient on the patient. They don’t have to spend a lot of time doing their administrative work or even the research component or even note taking – a lot of that function is automated for them.
FLG: Are There Any Drawbacks of Telehealth Counselling?
JD: The drawback of telehealth counselling is that there is definitely a small subset of patients for whom telehealth counselling may not be the best delivery method. This is particularly true for paediatric patients. We do, however, support a paediatric practice in Idaho. They lost two thirds of their genetic counsellors within six months and as they still wanted in-house genetic counsellors, we were able to provide a solution for them. A genetic counsellor prepares a case with the doctor in advance of the patient’s appointment. When the appointment starts the counsellor is present on the video and can interact with both the doctor and the patient. Although we can be flexible with how we deliver our solution, it’s more challenging to deliver paediatric counselling remotely than it is others like oncology and cardiology.
Our Digital DNA series will continue with more interviews and articles exploring the benefits, risks and potential of genetic testing. If you or your company would like to contribute to the Digital DNA series, please email email@example.com
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