Psychosocial Implications of Prenatal Telehealth Genetic Counselling: A Systematic Review


Keywords: Telehealth, Telegenetics, Genetic Counseling, Prenatal Genetic Counseling


Introduction: Telehealth is a growing service delivery model in clinical genetics and genetic counselling. Despite its popularity, telehealth genetic counselling (TGC) is often not incorporated into prenatal genetic services. Methods: A literature review was conducted to identify peer-reviewed, original research articles, which examined the psychosocial implications (e.g. satisfaction) of prenatal TGC. Using the PubMed database, searches were conducted using the following key terms: “Telehealth Genetic Counselling”, “Prenatal Genetics Telehealth and “Telegenetics. Results: The search returned 82 articles; only five articles assessed the psychosocial implications of prenatal TGC. The TGC delivery methods varied among studies, but results consistently revealed positive responses, most notably patient satisfaction. Conclusions: Further use and research of TGC are needed to better understand the social implications of this service delivery model for prenatal populations. This information is essential to guide clinical care for prenatal populations.


Resta R, Biesecker BB, Bennett RL et al. A new definition of genetic counseling: National society of genetic counselors’ task force report. J Genet Counsel 2006;15(2):77-83.

Heimler A. An oral history of the national society of genetic counseling. J Genet Counsel 1997;6(3):315-336.

Dice LR. A panel discussion: Genetic counseling. Am J Hum Genet 1952;4(4):332–346.

Sites J, Jacobson C. Genetic counseling in obstetrics and gynecology. Ann N Y Acad Sci 1967;142(3):768-772.

National Society of Genetic Counselors. (2018). 2018 Professional status survey reports. Available at: accessed 10 June 2018.

Pletcher BA, Toriello HV, Noblin SJ et al. Indications for genetic referral: a guide for healthcare providers. Genet Med 2007;9(6):385-389.

World Health Organization. (1998). A health telematics policy in support of WHO’s health-for-all strategy for global health development: Report of the WHO group consultation on health telematics, 11–16 Dec 1997. Geneva: World Health Organization.

Craig J, Patterson V. Introduction to the practice of telemedicine. J Telemed Telecare 2005;11(1):3–9.

World Health Organization. (2010). Telemedicine: opportunities and developments in member states. Available at: oe_telemedicine_2010.pdf accessed June 18, 2017.

Wenger TL, Gerdes J, Taub K et al. Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit. J Perinatol 2014;34(3):234–240.

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;24(2):157-163.

Vrčar I, Hristovski D, Peterline B. Telegenetics: an update on availability and use of telemedicine in clinical genetics service. J Med Syst 2017;41(2):21.

Hilgart J, Hayward J, Coles B, Iredale R. Telegenetics: a systematic review of telemedicine in genetics services. Genet Med 2012;14(9):765-776.

Buchanan AH, Rahm AK, Williams JL. Alternate service delivery models in cancer genetic counseling: A mini-review. Front Oncol 2016;6:120.

Buchanan AH, Datta SK, Skinner CS et al. Randomized trial of telegenetics vs. in-person cancer genetic counseling: cost, patient satisfaction and attendance. J Genet Couns 2015;2(6):961-970.

McDonald E, Lamb A, Grillo B, Lucas L, Miesfeldt S. Acceptability of telemedicine and other cancer genetic counseling models of service delivery in geographically remote settings. J Genet Couns 2014;23(2):221-228.

National Center for Biotechnology Information (US). (2018). PubMed Help [Internet]. Available at: accessed 24 November 2018.

Sangha KK, Dircks A, Langlois S. Assessment of the effectiveness of genetic counseling by telephone compared to a clinic visit. J Genet Couns 2006;12(2):171-184.

Lea DH, Johnson JL, Ellingwood S et al. Telegenetics in Maine: Successful clinical and educational service delivery model developed from a 3-year pilot project. Genet Med 2005;7(1):21-27.

Hunter A, Cappelli M, Humphreys L et al. A randomized trail comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients. Clin Genet 2005;67(4):303-313.

Abrams D, Geier M. A comparison of patient satisfaction with telehealth and on-site consultations: a pilot study for prenatal genetic counseling. J Genet Couns 2006;15(3):199-205.

Otten E, Birnie E, Ranchor AV, Van Langen IM. Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care. Eur J Hum Genet 2016;24(4):513–520.

Shiloh S, Avdor O, Goodman RM. Satisfaction with genetic counseling: dimensions and measurement. Am J Med Genet 1990;37(4):522-529.

Julian LJ. Measures of anxiety: State-Trait Anxiety Inventory (STAI), Beck Anxiety Inventory (BAI), and Hospital Anxiety and Depression Scale-Anxiety (HADS-A). Arthritis Care Res (Hoboken) 2011;63(S11):S467-472.

How to Cite
Beretich, L., DeLuca, J., & Eggert, J. (2018). Psychosocial Implications of Prenatal Telehealth Genetic Counselling: A Systematic Review. Journal of the International Society for Telemedicine and EHealth, 6(1), e21 (1-5).