Genetic counseling, 2030: An on‐demand service tailored to the needs of a price conscious, genetically literate, and busy world

Abstract

The practice of genetic counseling is going to be impacted by the public's expectation that goods, services, information, and experiences happen on demand, wherever and whenever people want them. Building from trends that are currently taking shape, this article looks just over a decade into the future—to 2030—to provide a description of how the field of genetics and genetic counseling will be changed, as well as advice for genetic counselors for how to prepare. We build from the prediction that a large portion of the general public will have access to their digitized whole genome sequence anytime, any place, on any device. We focus on five topics downstream of this prediction: public health, personal autonomy, polygenic scores (PGS), evolving clinical practices, and genetic privacy.

Patient Interactions With an Automated Conversational Agent Delivering Pretest Genetics Education: Descriptive Study

“…In one other use of a conversational agent for a related application in the context of chronic conditions (eg, cardiovascular disease, diabetes, and cancer), Wang et al [ 39 ] developed an animated virtual counselor to collect electronic family health histories for clinical risk assessment [ 29 , 30 ] and as a proxy for genetic predisposition to personalize medical care and disease prevention [ 40 - 45 ]. In a randomized comparison with the Surgeon General’s My Family Health Portrait [ 46 ], the conversational agent had better acceptability and usability outcomes (eg, ease of use, flow, understanding information, and satisfaction).…”

“…Only recently have clinical cancer care settings begun to leverage this technology to support patient information management in service delivery [ 4 ]. Conversational agents have been used in some of these processes, such as collecting patient data, providing genetic information, delivering results, and facilitating cascade testing of at-risk relatives in clinical settings [ 18 , 27 - 30 ].…”

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

“…This approach is likely to become increasingly important in the future as the development and use of electronic decision aids and artificial intelligence (e.g., chatbots) in clinical genetics services moves forward. [178][179][180] Many studies highlighted the potential of alternative service delivery models, but while a recent systematic review of randomized controlled trials of outcomes of genetic counseling found that these can be as effective as in-person counseling in some settings (e.g., women at risk for hereditary cancer), 181 it is important to emphasize that there remains a subset of patients for whom appropriate genetic counseling and testing will require the traditional in-person two-appointment model. Care needs to be taken when implementing efficiency improvement initiatives to ensure that appropriate services are available for all patients.…”

Democratizing genomics: Leveraging software to make genetics an integral part of routine care

“…Primary care providers have indicated unease with interpreting results (Hauser, Obeng, Fei, Ramos, & Horowitz, 2018) and counseling patients (Evenson, Hoyme, Haugen‐Rogers, Larson, & Puumala, 2016). These providers often rely on the expertise of genetic counselors; however, the demand for genetic counselors exceeds the current supply, and nonspecialists are not always aware of when to refer a patient to a specialist (Rashkin et al, 2019; Selkirk, Weissman, Anderson, & Hulick, 2013; Vassy et al, 2017). Similarly, a recent survey among primary care providers on their attitudes toward pharmacogenomic testing showed that 76% believed this type of testing can improve care; however, only 26% reported confidence in using such testing in prescribing decisions, and 70% preferred a pharmacist consultation (Smith et al, 2020).…”