In the 1990s, Elissa Levin proposed a master’s thesis on using the Internet to extend the reach of genetic counselors. Quickly, her committee shut down that idea. In those “old days”—just a few decades ago—many genetic counselors believed that only face-to-face assessments could be useful. In the midst of the COVID-19 pandemic, the shortsightedness of such thinking couldn’t be more clear.
“The pandemic could fast-forward—probably 5 to 10 years—the patient receptivity of virtual platforms,” says Levin, now vice president, clinical and policy at population-genomics company Helix. Although current healthcare conditions might be driving the push to telemedicine in genetic counseling, it’s far from a new idea. “Some of the first studies 10 years ago of genetic counseling by telephone showed we can provide it well in a remote way,” says Gillian Hooker, current president of the National Society of Genetic Counselors (NSGC) and vice president of clinical development at Concert Genetics. “The uptake was slow until now, and suddenly it’s really fast.”
Even with a growing number of genetic counselors ready to provide virtual consultations, some obstacles remain, including financial ones (See “Restructuring reimbursement” page 24). Nonetheless, some technical advances create new opportunities to expand the field’s reach.
Building the breadth
The growth in telemedicine aside, Hooker sees an expanding spectrum of people who could benefit from genetic counseling. “The early days of genetic counseling focused on hereditary cancer, which is still a big area, and prenatal issues, which is also still a big area,” she says, “but we’re seeing genetic counseling branching out to cardiology, endocrinology, nephrology, neurology, and other areas.” Increasingly, these patient populations need genetic counseling to find the best ways to treat their diseases.
As Leigha Senter—associate director of The Ohio State University division of human genetics—explains it: “In addition to discussing hereditary conditions, we find ourselves in discussions about genetics-focused treatments, as well.” In cancer care, for example, an increasing number of treatments target specific genetic markers. Consequently, Senter notes, “A broader application of genetics in clinical medicine, especially with regard to targeted therapies, has really exploded in recent years and continues to change at a rapid pace.”
Furthermore, genetic counseling keeps extending into new areas of healthcare. One example involves brain disorders. For instance, scientists at the Autism & Developmental Medicine Institute, of Geisinger Health reported that patients with developmental brain disorders (DBD)—such as autism spectrum disorder, intellectual disability, and schizophrenia—often have single nucleotide polymorphisms (SNPs) and pathogenic copy-number variations. The Geisinger scientists state: “Incorporating genetic testing into the care of adult patients with DBD, paired with targeted genetic counseling and family cascade testing, may increase self-advocacy and decrease stigma.”
With increasing genomic sequencing, much of it driven by decreasing costs, even more molecular markers will be found in an even wider range of diseases and paired with diagnostic tests and targeted medications. Plus, people beyond patients are taking advantage of genetic information.
“Historically patients were referred to genetics by their healthcare provider, but now there are a rising number of people who are seeking genetic testing on their own,” says Erynn Gordon, vice president of clinical operations at Genome Medical. “This significantly increases the demand for genetic services—beyond the current capacity—and means that the healthcare ecosystem needs to reconsider how patients access genetic services and genetic testing.” As Gordon points out, this raises various questions: Should patients decide on genetic testing on their own; does everyone need to see a genetic counselor to help guide patients to the right testing given their medical needs; or is there a hybrid technology solution that can support greater use of genetic testing in healthcare with expert guidance—without a consultation?
To help with this, Genome Medical developed a virtual platform. “We combine telegenetics with our Genome Care Delivery technology platform to drive efficiency in the identification and assessment of high-risk patients, the navigation to appropriate genetic testing, and the integration of test results into healthcare to improve outcomes,” Gordon explains. The company’s Genome Care Navigator includes self-guided education. “While some patients can and want to proceed to genetic testing without pre-test genetic counseling, our platform uses technology to optimize patient preference and high-quality clinical care by offering patients the option for one-to-one counseling and by using clinical algorithms that allow us to flag patients and direct them to one-to-one counseling as needed—based on patient information—to ensure an optimal clinical experience,” she adds.
As more people use this technology, Gordon expects to learn that “patient needs are diverse and can be met in many different ways.” From some perspectives, many “ways” already exist in genetic counseling.
Tests and taxonomy
Genetic counselors already cover a lot of information. There are about 150,000 genetic tests available in healthcare today. Although some tests look for the the same thing, serving as similar tests from different vendors, the number still grows by tens to hundreds a day. As Senter says, “Our patients will count on us to know when the new tests and technologies should be used.”
No genetic counselor’s brain stores information on 150,000 tests. That takes technology. “At Concert Genomics,” Hooker says, “We supply tools and technologies that providers can use to pick the right test and see if it’s covered by a patient’s insurance.” This technology puts tests in an organized taxonomy, an arrangement that groups similar tests. “The more complex the testing gets, the more you need an infrastructure that includes genetic counseling,” Hooker says.
AI in GC
Collecting more data demands thinking more deeply about how to use it. As clinicians screen across more of a person’s genome, says Rupert Yip, director of clinical genomics at QIAGEN, “the panel sizes are so large that almost every patient is guaranteed a hit as a carrier of a genetic condition—even if the risk is exceedingly small or inactionable.” It will be up to a genetic counselor to “either allay patient anxiety or appropriately recommend further testing,” Yip says. “Also, as more esoteric conditions get tested, even seasoned general practitioners will need to consult genetic counselors on conditions they’re not familiar with.”
Yip envisions demand outstripping supply. “We’re seeing an increase in demand for genetic counseling for not just hereditary genetic testing but also for hereditary cancers and in some cases somatic testing as well,” he says. “As a result, we’re seeing a rise in the use of AI and chatbots to assist human genetic counselors in addressing the ‘easy’ GC cases.” The simpler cases that he has in mind are people asking if genetic testing is right for them or what risks are implied with a given test result. The ongoing accumulation of data, experience, and knowledge help AI-driven platforms work better. Yip says, these AI-based tools provide “a great way to triage the difficult cases for human genetic counselors to tackle.”
The extent of applying AI to genetic counseling is just getting started, but it could reach even further in combination with other technologies. For example, Yip describes combining facial-recognition software with a virtual genetic counselor to diagnose some genetic conditions. “Using a smartphone and an app, users could take a selfie, then the app would apply proprietary image algorithms to rank a series of possible phenotypes or syndromes,” he explains.
These advances arise from technological improvements across computer science, including voice and pattern recognition, natural language processing (NLP), and AI. These tools can also keep up with the avalanche of information that impacts modern genetic counseling. As an example, Yip, says, “NLP technologies can be used to automatically curate scientific literature from review articles, historical cases, et cetera to improve the accuracy of genetic-counseling interactions.”
Improving that accuracy, though, depends on accruing enough data. In using facial recognition to diagnose rare conditions, for instance, Yip says, “The challenge is getting a large enough dataset to train the algorithms, and this is difficult since by definition these real-world cases are rare.”
Even as AI-based and other computer-related tools improve, human interaction will stay part of the genetic-counseling process. As Yip says, “Recommended follow-up action is very customized for each patient and, whenever you’re addressing patient anxiety, the human touch can never be replaced by any virtual experience.”
From rare to routine
The field of genetic counseling started by serving a few select groups, but that is expanding as health systems launch population health programs. To improve the health of an entire population, says Kimberly Foss, assistant professor in the University of North Carolina at Chapel Hill’s Program for Precision Medicine in Health Care, “presumedly healthy individuals from the general population are screened for the presence of inherited conditions with recommended preventive health actions.”
The U.S. Centers for Disease Control and Prevention (CDC) developed its Tier 1 Genomic Applications, which it describes as “those having significant potential for positive impact on public health based on available evidence-based guidelines and recommendations.” These applications apply to various conditions, including Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and familial hypercholesterolemia (FH), which increase the risk for various cancers and heart disease or stroke, respectively.
So far, estimates suggest that 1–3% of the U.S. population has an inherited condition on the CDC’s Tier 1, but ongoing screenings could change that prevalence. As Foss says, “Several population health-screening projects are underway across the U.S., including at our own institution through the UNC Program for Precision Medicine in Healthcare.”
Like enhancing some uses of genetic counseling with AI, population-health applications rely on technology. “Massively parallel sequencing or next generation sequencing technology have spurred tremendous advances in diagnostic testing accompanied by precipitous drops in sequencing costs and increased coverage in policies from many health insurers,” Foss explains. “The result is that access to genetic testing has expanded to enable testing of broader groupings of genes as opposed to targeting only one or two genes at a time.” As a result, scientists learn more about the clinical relevance of gene variations across larger groups of people.
“There’s still a big gap between what we can do and we do do,” says Hooker. One group of investigators, including Hooker, examined the coverage of genomics testing in the United States and reported four general findings: genomic testing is used inconsistently across the country, coverage of testing by payers varies, having coverage doesn’t mean more use of genomic testing, and inconsistent reimbursement is a challenge.
To drive ahead in resolving these obstacles to getting the most from genetic counseling, many approaches should be considered. “We need more economic studies to see if there’s evidence that genetic testing and genetic counseling are cost-effective over time,” Levin says. “We’re still in the early stages for those.”
Nonetheless, ongoing advances will spur even more uses of genetic counseling. From Gordon’s perspective, “Over the next five years, we are likely to see demand for genetic services surge—driven by an increase in understanding of the role of genetics in healthcare beyond rare disease and supported by changes in technology, such as integrated risk-assessment tools in patient portals and use of artificial intelligence to mine medical records and prioritize patients who need referrals to genetic counseling.”
Soon, genetic counselors will be called to help people make healthcare decisions at nearly every stage of life. That will, hopefully, reduce the gap between what can and does get done. Most important, specialists across healthcare and patients could then better work as a team. Then, the old and the young and those in between could all live higher quality lives.
To provide wider service, genetic counselors need to be recognized more widely as healthcare providers. Currently, that is not the case with the U.S. Centers for Medicare & Medicaid Services (CMS). “Under Medicare, we can’t bill as independent providers,” Hooker explains. Instead, a genetic counselor can only bill Medicare under a physician.
Genetic counselors hope that H.R. 3235, the “Access to Genetic Counselor Services Act of 2019,” will change that. If made into law, H.R. 3235 will give genetic counselors status as healthcare providers by CMS. “This bill is critical as demand and interest in genetic counseling increase,” Hooker says.
Without this bill, many people cannot get genetic-counseling services. “Reimbursement of genetic counselors is the key to building the infrastructure that can make genetic medicine, personalized medicine work,” Hooker says. “We need to invest in the workforce and serve the population equally.”