Tele-Genetic Counselling vs. Onsite Genetic Counselling. The tele-genetic counselling as a solution to better access to services

The use of telemedicine in genetic counselling

Over the last decade, the use of telemedicine has significantly increased across various sectors of healthcare worldwide, primarily to enhance cost-effectiveness and provide equitable access to medical services in remote areas or for individuals with other difficulties like mobility challenges, anxiety, depression, and distress symptoms. As the demand for clinical genetic services rises, paired with a shortage of clinical geneticists and genetic counsellors, established genetic centres can leverage telemedicine, a practice known as “tele-genetics” [1]. The Covid-19 pandemic has further accelerated the development and acceptance of tele-genetics to minimize in-person appointments between patients and healthcare professionals. This can serve as an invaluable method for genetic counselling, utilizing telephone or video formats, i.e., digitally or remotely, and allows professionals the opportunity to share their expertise with patients. According to a recent survey by the National Society of Genetic Counselors, tele-genetics (audio-visual) emerged as the leading service delivery model in North America in 2021, utilized by 82% of respondents, closely followed by face-to-face genetic counselling at 81% and telephone sessions at 74% [2]. Furthermore, according to a survey in Europe, telephone genetic counselling was used by 17% of professionals and videoconferencing facilities were available to 24%, but only 9% of them used these for patient counselling [3].

The tele-genetic counselling as a solution to better access to services

Despite the identification of more genetic diseases, the growing complexity, and heightened awareness of genetic testing, access to genetic counselling remains limited globally, often falling short due to a shortage of trained professionals such as genetic counsellors and geneticists [4]. The availability of genetic counselling services in many countries is notably scarce, and the services currently offered are provided by physicians working alongside clinical laboratory geneticists due to a shortage of medical geneticists and genetic counsellors. Due to the absence of genetic counselling services, individuals with inherited disorders and their families, might not be able to fully benefit from genetic testing, genetic counselling, management, and monitoring, which could improve their quality of life. A potential solution to these obstacles is tele-genetic counselling. Until the advent of the Covid-19 pandemic, comprehensive legislative initiatives on telemedicine were lacking, which posed a significant barrier to its widespread use. However, medical procedures are now available remotely through the telemedicine system using digital applications.

Useful tools to support tele-genetic counselling services

Useful digital tools can be used in tele-genetic counselling services to enhance the effectiveness of the services, participants' empowerment, psychological well-being (anxiety, depression, and distress symptoms), and behavioral adaptations. Our goal in the Genes4All project is to develop  digital tools that can be used in genetic - and tele-genetic counselling processes. We think that algorithms tailored to patient-disease combinations must be created because there isn't a single method that works for all diseases.  We are paying special attention to neurodegenerative diseases in this context.  We are creating an online tool that gives access to useful resources like behavioral adaptations, an attractive and educational serious game for people with inherited diseases and/or family members with neurodegenerative disorders, and a digital service delivery model for genetic counselors.  By providing all of our digital information in six different languages, we want to expand access to genetic counselling services globally. Results from this project will provide relevant information to stakeholders, which may enhance individual psychological well-being, empowerment, and lifestyle changes toward genetic risk information management, by using more digital tools in genetic counselling.

REFERENCES:

[1] Hilgart JS, Hayward JA, Coles B, Iredale R (2012). Telegenetics: a systematic review of telemedicine in genetics services. Genet Med 14, 765–776.

[2] NATIONAL SOCIETY OF GENETIC COUNSELORS (2022) 2022 professional status Survey - executive summary online, https://www.nsgc.org/Portals/0/Executive%20Summary%20Final%2005-03-22.pdf., Accessed April 23, 2025.

[3] Otten E, Birnie E, Lucassen AM, Ranchor AV, Van Langen IM. Telemedicine uptake among Genetics Professionals in Europe: room for expansion. Eur J Hum Genet. 2016 Feb;24(2):157-63. doi: 10.1038/ejhg.2015.83. Epub 2015 Apr 22.

[4] Ormond KE, Abad PJ, MacLeod R, Nishigaki M, Wessels T-M (2024) The global status of genetic counselors in 2023: What has changed in the past 5 years? Genet Med Open 2, 101887.