With telemedicine on the rise and electronic health records (EHRs) becoming standard in medical practice, genetic counselors are relying more and more on technology to manage growing demands while preventing burn out. Seasoned genetic counselors and digital champions Andrew McCarty, Scott Weissman, and Dr. Amy Taylor discuss the adoption and impact of digital tools in genetic counseling.
As the Cancer Services Lead for a Genome Medical, a nationwide tele-genetic practice, Scott Weissman emphasizes the importance of pedigree software when it comes to effectively and efficiently providing services to a large volume of patients. Some pedigree software, like PhenoTips, further enhance efficiency by auto-generating pedigrees from patients’ digital intake surveys.
In addition to their current pedigree software, Genome Medical is developing an interactive pedigree tool that provides video education to patients. The patients can choose which videos they watch, while answering questions regarding their personal and family history. This generates a family pedigree before the patient sees the genetic counselor, allowing counselors more time to facilitate decision making and conduct psychosocial assessments.
Many national centers have employed these video education models, and demonstrate that patients are as effectively educated as they are when engaging directly with genetic counselors. These tools also introduce the patient to some of the relevant terms and concepts used in genetic counseling, ensuring patients enter their live sessions armed with more understanding, as well as more direct and informed questions. Scott Weissman agrees,
“It allows them to come to the session with very targeted and specific questions and concerns [so] that you can really then spend the time practicing at the top of scope, as a genetic counselor.”
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While electronic health record (EHR) systems have represented a significant digital milestone in medicine and allowed for patient records to be accessed from any location, there is still a lack of functionality for genetics on these interfaces. More specifically, without genetic pedigree tools or an understanding of families in EHRs, information regarding family history can be misleading or inappropriate when included in a patient’s medical record, as the information is not specific to the patient. This is especially misleading since patients are able to request access to their record themselves, without the guidance of a medical professional to clarify which information pertains to them versus their family members.
For genetic counselors at Cambridge University Hospitals NHS Foundation Trust, like Dr. Amy Taylor, this disparity is addressed by PhenoTips with the family history tool, which stores all the family history forms returned by patients, as well as pathology and genetic test reports for other family members. In addition, video, instead of phone, clinical appointments have further enhanced patient involvement, as features such as screen sharing allow a patient to view their pedigree being constructed in real time.
Digital tools can help supplement EHRs by triaging and scheduling patients appropriately, based on questions or concerns they may have for a genetic counselor. Variations of intake and pre-screening forms are also useful tools to maximize time with genetic counselors.
Pedigree tools that empower patient-directed family history collection, like PhenoTips’ Pre-Visit Patient Questionnaire, further enhance the patient’s appointment by maximizing the quality of information acquired from their family history, before their scheduled visit. These tools allow the patient to contact various family members at their leisure and enrich the resulting data set by ensuring thoughtful and thorough patient-directed entry. In this way, the family history tool collects better information so that genetic counselors can make more informed risk assessments and genetic testing recommendations.
EHRs and online genetic counseling tools, such as pedigree drawing tools, optimize information access across multidisciplinary teams regardless of physical location. As a result of improved collaboration and information access, team members are better equipped to actively contribute to meetings. Transferring information regarding patients is also greatly accelerated compared to paper-based methods; when investigating multiple families with different genetic counselors, this information is assimilated digitally and facilitates linking of family members through pedigrees to recommend follow-up testing.
The online centralization of familial pedigrees and other information provides patient data in a digital format, which is easier to quantify in a laboratory setting. Labs are then able to streamline pedigree data to better analyze the information found from genetic testing and provide more accurate diagnoses.
Pedigree chart tools may occupy the niche market of genomic medicine, but the demand is increasing. These tools also standardize communication between medical professionals so that edits and human error are minimized for better results and improved patient care.
According to Andrew McCarty’s research, when paper pedigrees were compared with digital pedigrees
“we found [...] about 80% of individuals who had had a digital pedigree taken, and this was in 2014 or so, were interested in having a copy, citing reasons such as sharing it with their physician, their family, to gather more information. Whereas, with the paper pedigree[…]it was closer to 10%.”
The utilization of pedigree chart makers simplifies the process of adding to patient records and is in step with the digitization of medical records and increased popularity of telemedicine. The interactive and collaborative format of online pedigree drawing tools helps to engage patients. Dr. Taylor elaborates,
“I have always found when I show somebody their digital pedigree—the way that we do it at the moment, they fill in a paper—which then becomes a digital pedigree and they usually love seeing that. It's exciting for them to see their family in this format… I know the paper feels so personal, but actually I think digital feels more like a shared space… like a sort of a shared activity and they're really kind of contributing to their consultation.”
Some digital tools for genomics designed with dysmorphology or rare disease in mind, such as PhenoTips, have the added benefit of sorting and search functions. These functions afford the ability to select individuals or form cohorts by potential pathogenic genes or variants of interest, which can be particularly useful when recommending screenings to patients based on variants or other coded features. PhenoTips in particular has the added benefit of parsing once difficult-to-read doctors’ notes using natural language processing.
Diagnostic cascade testing is aided by family history tools, for example, if one individual is diagnosed, parents and other relatives can receive suggestions for genetic testing derived from the pedigree generator.
Currently, data sharing has been restricted by paper-based workflows and EHR functionality, limiting the potential diagnostic yield associated with collaborative efforts. An ideal EHR tool would streamline patient intake by disseminating patient information from a snapshot or scan, saving health care professionals the labor of manually abstracting the patient’s chart. Cross communication between platforms would afford better time spent with the patient, but data sharing between systems is limited. Currently, Care Everywhere is restricted to those with EPIC systems, but patient pedigree charts can be universally exported using a .ped file type.
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.”
Currently there are three main applications of digital tools: pediatric, prenatal, and cancer. As these tools become more mainstream and reach more areas of genetic medicine, with patients directly filling a digital form, genetic counselors will have more time and resources to effectively counsel their patients. User-friendly digital education and visual aids to facilitate patient learning and comprehension would also benefit the overall quality of care, especially as genetic science becomes increasingly complex.
Scott notes that PhenoTips’ Cancer Risk Assessment tool has greatly improved efficiency at Genome Medical, as it has centralized a patient’s pedigree as well as multiple common risk assessment models. This ability to run and validate multiple risk models greatly reduces genetic counselors’ time spent post-session.
Digital medical genetics tools continue to evolve as technology does; soon facial recognition (i.e. identifying facial phenotypes of genetic disorders using deep learning) and exome integration will allow for differential diagnoses, eventually without the need to order a panel. The capacity of some digital tools to store a wealth of genetic information will further allow for this transition away from panels.
Technological advancements continue to innovate the ways in which genetic counseling can be supplemented by digital tools. The integration of existing software that uses facial morphology to suggest potential diagnoses, with other metrics under development, such as polygenic risk scores and exome/genome methodologies, would further enhance diagnosis and risk assessment. PhenoTips represents a step towards holistic digital systems as it currently provides differential diagnoses based on manually entered or text-mined dysmorphological phenotypes, while supporting complex pedigrees featuring multiple partners, consanguinity, and the representation of LGBT individuals and relationships.
Scott Weissman predicts that future genetic counseling will take place in a majority digital space, relying heavily on chatbot or video learning, thus preparing patients and allowing for targeted sessions. Additionally, psycho-social tool for conditions such as cancer-anxiety could help some individuals seek testing without counseling while identifying those who might require counseling, thus improving testing accessibility and allowing genetic counselors to function at top-of-scope. Interactive apps or websites for family members of individuals who have been screened would help these relatives understand their genetic risk factors, rather than receiving a letter in the mail which may create more questions than answers.
For providers outside of genetics, risk assessment tools which suggest patient screenings or referrals to counselors would also improve accessibility of genetic counseling. Andrew McCarty hopes that future digital tools will focus on producing data that easily integrates with exome, genome, and other future-forward methodologies to improve diagnostic yield and risk assessment outcomes, thereby streamlining decision-making on the patient and family end.
As genetic counseling practices convert from paper to digital tools, features that would enhance productivity while easing the transition for patients and counselors alike should be prioritized. These include HIPAA compliance, cross-platform integration, risk-model integration, and intuitive work-flows and models. Appropriate and long-term customer support is also essential during and following the incorporation of these tools into health care systems. Receptive support during beta testing is incredibly valuable as it creates a more user-friendly platform for both clinicians and patients.
To facilitate the adoption of digital tools, the time-saving functionality must be emphasized; not only in terms of inputting data, but also in acquisition of information from patient self-reporting and doctors’ notes. In addition, digital champions must practice patience and persistence when transitioning from paper to digital, as the process requires a gradual introduction of ideas so that clinicians are not overwhelmed by sudden change or unfamiliar programming.
Considerations of HIPAA compliance and departmental cost savings are other important points to be made when encouraging a pivot from paper to digital tools. Storing information on digital platforms reduces the risk of data breaches by securely containing patient related information, especially as more genetic counselors begin to work from home.