Based on a conversation between Amy Sturm, genomic medicine professor at Geisinger and Past President of the National Society of Genetic Counselors, and Erynn Gordon, the founder and President of Ripple Genetics Consulting and Past President of the American Board of Genetic Counseling.
As genomics makes its way into mainstream healthcare, clinical genetics is expected to expand to treating common, preventable conditions - and genetic counselors are poised to champion this transformation. Many recent developments in genetics and genomics are expected to alter the future roles of genetic counselors.
In this post, Amy Sturm and Erynn Gordon shed light on some of these advancements including the adoption of digital tools in genetic counseling practice, the advent of population screening, and the emergence of new rare disease treatments. They also explore the potential roles that genetic counselors are likely to play in the future, as a result of these developments.
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Genetic counselors repeat a number of tasks and conversations in patient interactions - guiding them through a family health history questionnaire, building a pedigree, etc. This work is vital, but depletes the counselors’ time. By consigning some of these tasks to technology such as chatbots and pedigree builders, genetic counselors can free up their time for richer, deeper patient interactions.
Many of the standard questions asked of a patient can be handled by chatbots. Chatbots can incorporate various functions and use cases, including obtaining consent, enabling family sharing to allow results to be shared with at-risk relatives, facilitating cascade testing, prenatal screening, patient follow-ups and more.
The use of chatbots is quickly gaining traction. Erynn Gordon says: “We've seen a tremendous uptick over the last five years in patient interest in digital tools, not just in genetics but across the board.” Focus groups have shown that even older individuals in their 50s and 60s are open to receiving digital communications.
As chatbots take on some of these conversations, the role of genetic counselors will evolve. Chatbots will allow them to step away from administrative tasks and focus on longitudinal follow-up with patients. It is also important to note that while chatbots can support the work of a genetic counselor, they have their limitations. Genetic counselors will still need to assist patients with needs that technology cannot meet. For example, patients might be struggling with decisions or confused about their risks. Regardless of the pervasiveness of technology in genetic counseling practice, there needs to be a conduit for a genetic counselor’s service when it’s needed.
Over time, as people get comfortable using chatbots, patients needing the intervention of genetic counselors will form the minority - but because genetics is expected to serve a far larger population in the future than it does today, they will be a significant number nevertheless.
Another popular digital tool is the pedigree builder, which helps genetic counselors with charting family history. Traditionally, a family history questionnaire is sent to the patient before their appointment. The form is returned either before the appointment or with the patient. Sometimes, an assistant will call the patient to create the pedigree in order to save the genetic counselor’s time. This method still requires manpower, and the pedigree information is often reviewed again by the counselor in a pretest session.
Digital pedigree builders can achieve a steep jump in efficiency. These tools can link to patient questionnaires, capture information from them, and create pedigrees. In addition, they can work in conjunction with chatbots, and populate risk assessment tools. The patient can then be presented with their risks based on the information they provided, and be given the option to either continue with the chatbot or schedule an appointment.
When the patient attends their first appointment, the above information is already available to the counselor. The in-person appointment can be used to address questions that weren’t properly answered in the questionnaire. Erynn Gordon says,
“these tools have the potential to reduce a session by probably 15 minutes or more - and considering the rising cost of healthcare and the need for efficiency, that is a tremendous asset.”
There are other advantages to this digital setup. When patients fill in the questionnaire at home, they are more likely to consult family members to report more complete information, leading to better care. In addition, some of these tools are designed to be integrated into the Electronic Medical Record (EMR). This means that a patient can complete a questionnaire from home, which the pedigree builder could use to create a pedigree that is integrated directly into the EMR. In some cases, integration can enable the EMR to pull data directly from the pedigree or questionnaire. Since the information is stored digitally, it can be updated incrementally as necessary.
Erynn Gordon says, “many genetic diseases are very rare and what we know about them changes and evolves as we do more genetic testing. Having a digital tool that can be updated to amalgamate symptoms and provide a differential diagnosis is incredibly exciting and will change the practice of genetic counseling.”
As whole exome sequencing becomes more affordable, it has opened conversations about predictive whole exome sequencing for healthy individuals looking to identify health risks.
The benefits of population screening have been well documented. Amy Sturm says: “Our data has shown us that we are consistently missing people with real genetic disease risk.”
Erynn Gordon concurs, stating that there has been an underutilization of genetics for years. “We have not been identifying the right people, or not referring them to genetic tests as needed. This is an argument for population screening because I don't think we're magically going to close this gap. We are not going to be able to reach everybody who has a disease-causing variant through the small percentage of patients that we are actually capturing.”
She continues:
“While I think there is a lot of opportunity and power in whole exome/genome testing, it has to align with the motivations of the patient. What are they in here for? For instance, in many cases, carrier testing of a whole exome or whole genome doesn’t actually include triplet repeat disorders, like fragile X, which would often be included in a carrier screen.”
In order for population screening to become standard of care, there needs to be more research and legislation to influence its use. The first step is to analyze the data available in order to understand the implications of positive results, the long-term outcomes for individuals who receive healthy sequencing, the financial benefit of screening, and other important factors.
In addition to this analysis, clinicians and the general population need to be consulted to understand public opinion of healthy screening. Then, there is the consideration of payment. Erynn says: “In the USA, the expectation is that health insurance will pay for your care or a portion of it, if it is medically necessary. If there's no coverage for healthy sequencing, I think there’s going to be a perspective among healthcare providers and the public that it’s not medically necessary. We need to convince payers to include population screening, with coverage that is equitable across all strata of society.”
The cost for rare disease treatment can be astronomical. For example, the life-saving drug Spinraza, which has helped save the lives of Spinal Muscular Atrophy (SMA) patients, costs over a million dollars. Genetic counselors are poised to help address this inaccessibility to lifesaving medication.
Amy Sturm speaks to the role of genetic counselors as advocates. “A lot of advocacy needs to happen individually with our patients and families, but also importantly, we can partner with advocacy organizations that go straight to Capitol Hill to fight for access for everyone with these conditions.”
Erynn Gordon adds: “It is necessary to consider the full equation. For instance, while the cost of the SMA drug is very high, the lifetime cost of caring for an individual with SMA is even higher - specialist appointments, ventilators, wheelchairs, parental time away from work, etc. While we look at the cost of a drug, we also need to consider how much it decreases the cost of long term care, how it affects the productivity of caregivers, etc. It is important that genetic counselors raise awareness of this nuanced perspective in the community.”
With the scaling of genetics to a broader patient population, the role of genetic counselors is extending and expanding beyond its foundational specialties of prenatal, pediatric, and cancer genetics. There has been rapid growth in the number of genetic counselors working outside traditional clinical settings—in the laboratory, in research settings, and in pharmaceutical companies.
In addition, advancements such as polygenic risk scores are carving out new work for genetic counselors. Just as they did for Mendelian disease risk, genetic counselors will lead the integration of polygenic scores into the clinic and work alongside primary care givers and specialists.
Another potential role for genetic counselors is that of a patient navigator. As genetics goes mainstream, patients will require systems that provide continual support as they navigate genetics at various points in their life. Genetic counselors are uniquely placed to play the role of patient navigators, checking on patients from time to time. However, since genetic counselors are already pressed for time, assigning them the exclusive charge of patient navigation may not be sustainable.
Amy says: “This idea of genetic counselors as patient navigators is exciting and I hope we can actualize this. However, it cannot always be just a genetic counselor who serves as a patient navigator, because that is not scalable. Here is where digital tools can help. We have been building genomic indicators into EPIC to automate health maintenance topics, so the primary care physician will get a notice when the patient comes in to see them.”
In the near future, physicians, cardiologists, neurologists, ophthalmologists, and other specialists will be using genetics in routine practice. Genetic counselors will play an integral role in advising them and helping them triage and identify patients who might need a deeper level of care or a greater level of expertise.
In essence, genetic counselors have a bright, busy future in the fast approaching world of genetics-led personalized healthcare. With the support of technology and tools to ease their workload, genetic counselors can make an effective transition into an era in which their presence is ubiquitous and their expertise is sought in routine medical settings.
The themes covered in this Speaker Series session were inspired by the Laura Hercher 2020 paper, “Pondering the future of genetic counseling: An adolescent field comes of age”. Watch the entire Speaker Series conversation between Erynn Gordon and Amy Sturm, with host Kira Dineen.
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