Video Education in Germline Genetic Testing: A Step Toward Improved Access to Personalized Medicine

The steady march toward realizing genetic medicine’s potential has continued, particularly in oncology. Based on high germline diagnostic yields of over 10%, clinical cancer guidelines now recommend universal germline genetic testing for patients diagnosed with an increasing variety of cancers. This list now includes epithelial ovarian cancer, pancreatic adenocarcinoma, metastatic or node-positive prostate cancer, and pleural mesothelioma.^1–3 Additional clinical guidelines recommend that germline genetic testing be considered in a wide variety of scenarios, such as when a patient experiences early onset of cancer, is diagnosed with a relatively rare tumor type, or if the patient has a striking personal (ie, multiple cancers in the same patient) or family history (ie, multiple occurrences of the same cancer within a single pedigree).⁴

Despite genetic medicine’s increasing utility and promise, significant barriers to its successful implementation remain. These hurdles include heterogeneous and vaguely written guidelines, uncertainties in genetic testing reimbursement, and technically insufficient assays that place patients at risk of falsely negative results and their attendant downstream consequences.^5–8 Perhaps one of the most ominous barriers to personalized medicine is a paucity of medical professionals who can offer high-quality genetic testing, recognize current practices’ limitations, and adapt to rapid advances in this field.⁹ Addressing the genetic counseling workforce shortage will require multipronged solutions, including scalable approaches such as asynchronous video education (VE). VE, which delivers pretest counseling through brief, standardized videos, instructs patients on the risks and benefits of germline genetic testing.¹⁰ This education model is central to the approach evaluated by Schneider et al¹¹ in a study clearly showing that VE is a viable form of pretest education for patients with breast, ovarian, pancreatic, and metastatic prostate cancers.

For this study, the authors randomly assigned 250 patients with breast, ovarian, pancreatic, or metastatic prostate cancer to receive pretest education via either video (n = 187) or a traditional visit with a genetic counselor (GC, n = 63). As is typical practice, patients were referred by their oncologists or were identified by manually reviewing upcoming appointments. Patients who received VE watched an 8-min video, narrated at a ninth-grade reading level, that discussed broad genetics concepts (inheritance patterns, the role of genes, etc) and clinical genetics topics (panel testing, cascade testing, the medical implications of genetic results, etc). Patients in the control arm met with a GC, as is the current standard of care in the field.¹¹

The results of this study are encouraging and broadly indicate that VE is a feasible complement to traditional GC visits. First, VE likely removes a friction point, a conventional clinic visit that may reduce access to genetic medicine, as a higher proportion of patients in the VE arm ultimately completed pretesting education (91.0%) compared with those in the usual care arm (77.8%, P = .01).¹¹ While most patients (97%) who completed a conventional clinic visit with a GC felt that their questions were satisfactorily addressed, fewer patients (67%, P < .0001) in the VE arm had their questions answered to a satisfactory degree. Despite this, 91% of the patients on the VE arm would recommend the process to a friend or relative, compared with only 81% of those on the usual care arm.¹¹

It is unclear if the efficacy of VE in this study’s primarily White (90.5%) and English-speaking patient population will be reproduced in more diverse clinical practices in the United States. While the patients in this study were well balanced by sex and race, no data were available for insurance status, education level, or income, and a large proportion of the enrolled patients (40%) were older than 70 years. It is unclear if this study’s highly educated, affluent patients were more adept with technology than the older patients that many of us care for in our practices. Prior work has discovered disparities in access to genetic services for socioeconomically vulnerable patient populations, but it is impossible to determine the proportion of patients in this study who would be considered at risk of these disparities.¹² Implementing VE efforts more broadly will likely involve additional growing pains related to access and equity, particularly for patients who are not tech literate or do not have high-quality Internet access. These patients were likely not highly represented in this study. Limited data suggest VE can be deployed in diverse patient populations,^11,13,14 so future work must evaluate these models in more diverse populations to more fully understand the potential impact of VE.¹⁵ The cost-effectiveness of VE in diverse patient populations will also be a key consideration, as other alternative models for genetic medicine, such as remote counseling, point-of-care testing, group counseling, and telegenetics, are cost-effective.¹⁶ These findings bode well for VE, but similar economic modeling should be applied to VE to inform its reimbursement and implementation policies. In addition to providing high-quality education, VE addresses logistical barriers such as travel burdens and appointment wait times. These issues disproportionately affect rural, elderly, and underserved populations.¹⁷ Schmidlen et al¹⁸ found that asynchronous tools such as chatbots improve testing accessibility without compromising comprehension. These models can enhance efficiency, reduce patient burdens, and close access gaps in diverse care settings.

The encouraging findings in the study by Schneider et al further cement VE as a viable complement to usual care that reduces the load on an already strained genetics workforce. The GC workforce remains critically undersized relative to demand, and the United States has fewer than 5,000 certified GCs, far below the threshold needed to meet a growing national demand.⁹ This shortage reinforces the urgency of exploring scalable alternatives, such as asynchronous VE. Prior work has shown that these models can reduce strain on the workforce while maintaining patient comprehension and satisfaction. The model proposed by Schneider et al builds on this foundation and suggests that VE may offer an optimal balance between efficiency and quality. One can easily imagine a blended model that combines the best of both approaches—patients could first undergo VE, and patients with additional questions could engage a traditional GC and/or a chatbot well trained in the fundamentals of genetic medicine.¹⁹

In summary, as clinical guidelines recommend universal genetic testing for an increasing number of cancers, VE will likely offer a pragmatic, scalable approach that promotes equity in access to personalized medicine. Pairing VE with post-test counseling—delivered by GCs or digital assistants—may strike the right balance between efficiency and empathy. This blended model represents a critical step in integrating precision medicine into routine cancer care.