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A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care

European Journal of Human Genetics (2019) | Download Citation


With the rising demand for clinical genetics services, it is a challenge for clinical geneticists to meet the needs of patients and referring primary care providers in a timely way, using current models of genetics health care delivery. One method of providing primary care providers with greater access to clinical genetics expertise is through an electronic consultation (eConsult) service. We describe here a pilot project of a clinical genetics eConsult service that our genetics centre in Eastern Ontario, Canada provided, using the Champlain Building Access to Specialists through eConsultation (BASE)TM web-based application. We analyzed 111 genetics eConsults submitted by primary care providers to a single clinical geneticist over a 28-month time period. More than half (54%) of the eConsult questions were regarding (1) hereditary cancer and (2) genetic syndromes, with the remainder encompassing a wide variety of clinical genetics topics. We avoided a referral to the Genetics clinic for an in-person appointment for 30% of the eConsult cases, based on a contemplated referral rate to Genetics clinic of 72% prior to eConsult and a planned referral rate to Genetics clinic of 42% following all eConsults. Primary care providers rated the eConsult service of high value to themselves and also to their patients. This pilot service supports the potential of an eConsultation service to create a stronger and more dynamic link between clinical genetics and primary care providers, which may lead to better patient care.

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  1. 1.

    Otten E, Birnie E, Ranchor AV, van Langen IM. Online genetic counseling from the providers’ perspective: counselors’ evaluations and a time and cost analysis. Eur J Hum Genet. 2016;24:1255–61.

  2. 2.

    Zierhut HA, MacFarlane IM, Ahmed Z, Davies J. Genetic counselors’ experiences and interest in telegenetics and remote counseling. J Genet Couns. 2018;27:329–38.

  3. 3.

    Otten E, Birnie E, Lucassen AM, Ranchor AV, Van Langen IM. 2016 Telemedicine uptake among Genetics Professionals in Europe: room for expansion. Eur J Hum Genet. 2016;24:157–63.

  4. 4.

    Kibar Y, Frimberger D, Kropp BP, Reiner W. Accuracy of perinatal diagnosis of 45, X/46, XY mosaicism and electronic consultation of affected parents. J Pediatr Urol. 2009;5:274–8.

  5. 5.

    Kentwell M, Dow E, Antill Y, Wrede CD, McNally O, Higgs E et al. Mainstreaming cancer genetics: a model integrating germline BRCA testing into routine ovarian cancer clinics. Gynecol Oncol. 2017;145:130–6.

  6. 6.

    Swanson CL, Kumar A, Maharaj JM, Kemppainen JL, Thomas BC, Weinhold MR et al. Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis. Gynecol Oncol. 2018;149:121–6.

  7. 7.

    Battista RN, Blancquaert I, Laberge A-M, van Schendel N, Leduc, N. genetics in health care: an overview of current and emerging models. Public Health Genom. 2012;3:34–45.

  8. 8.

    Reiff M, Ross K, Mulchandani S, Propert KJ, Pyeritz RE, Spinner NB et al. Physicians’ perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clin Genet. 2013;83:23–30.

  9. 9.

    Christensen KD, Vassy JL, Jamal L, Lehmann LS, Slashinski MJ, Perry DL et al. are physicians prepared for whole genome sequencing? a qualitative analysis. Clin Genet. 2016;89:228–34.

  10. 10.

    Vimalananda VG, Gupte G, Seraj SM, Orlander J, Berlowitz D, Fincke BG et al. Electronic consultations (e-consults) to improve access to specialty care: a systematic review and narrative synthesis. J Telemed Telecare. 2015;21:323–30.

  11. 11.

    Liddy C, Drosinis P, Keely E. Electronic consultation systems: worldwide prevalence and their impact on patient care—a systematic review. J Fam Pract. 2016;33:274–85.

  12. 12.

    Keely E, Liddy C, Afkham A. Utilization, benefits, and implact of an e-consultation service across diverse specialties and primary care providers. Telemed J E Health. 2013;19:733–8.

  13. 13.

    Witherspoon L, Liddy C, Afkham A, Keely E, Mahoney J. Improving access to urologists through an electronic consultation service. Can Urol Assoc. 2017;11:270–4.

  14. 14.

    Lai L, Liddy C, Keely E, Afkham A, Kurzawa J, Abdeen N et al. The impact of electronic consultation on a Canadian tertiary care pediatric specialty referral system: a prospective single-center observational study. PLoS One. 2018;13:1–13.

  15. 15.

    Rostom KC, Smith CD, Liddy C, Afkham A, Keely E. Improving access to rheumatologists: use and benefits of an electronic consultation service. J Rheumatol. 2018;45:137–40.

  16. 16.

    Murthy R, Rose G, Liddy C, Afkham A, Keely E. econsultations to infectious disease specialists: questions asked and impact on primary care providers’ behavior. Open Forum Infect Dis. 2017;4:e1–6.

  17. 17.

    Liddy C, Smyth C, Poulin PA, Joschko J, Keely E. Improving access to chronic pain services through consultation: a cross-sectional study of the champlain BASE eConsult Service. Pain Med. 2016;17:1049–57.

  18. 18.

    Shehata F, Posner G, Afkham A, Liddy C, Keely E. Evaluation of an electronic consultation service in obstetrics and gynecology in Ontario. Obstet Gynecol. 2016;127:1033–8.

  19. 19.

    Keely E, Liddy C, Epstein G, Afkham A, Williams R, Keller E. Ontario experience with eConsult: moving from pilot to provincial program. Ont Med Rev. 2018; 85:41–3.

  20. 20.

    Liddy C, Rowan MS, Afkham A, Maranger, J, Keely E. Building access to specialist care through e-consultation. Open Med. 2013;7:e1–8.

  21. 21.

    Liddy C, Afkham A, Drosinis P, Joschko J, Keely E. Impact of and satisfaction with a New eConsult Service: a mixed methods study of primary care providers. J Am Board Fam Med. 2015;28:394–403.

  22. 22.

    Joschko J, Liddy C, Moroz I, Reiche M, Crowe L, Afhkam A et al. Just a click away: exploring patients’ perspectives on receiving care through the Champlain BASETM eConsult service. Fam Pract. 2018;35:93–8.

  23. 23.

    Canadian Medical Protective Association (CMPA). Is that eConsultation or eReferral service right for your medical practice? CMPA Perspect Mag. 2017;9:10–3. September

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This work was supported by the Ministry of Health and Long-Term Care, The Canadian Institutes of Health Research, The Ottawa Hospital Academic Medical Organization Innovation Fund, e-Health Ontario, the University of Ottawa Department of Medicine, Bruyère Research Institute and the Champlain Local Health Integration Network.

Author information


  1. Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada

    • Priya T. Bhola
    •  & Gail E. Graham
  2. CT Lamont Primary Healthcare Research Centre, Bruyere Research Institute, Ottawa, Ontario, Canada

    • Clare Liddy
  3. Department of Family Medicine, University of Ottawa, Ottawa, Ontario, Canada

    • Clare Liddy
  4. The Champlain Local Health Integration Network, Ottawa, Ontario, Canada

    • Amir Afkham
  5. Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada

    • Erin Keely
  6. Division of Endocrinology/Metabolism, The Ottawa Hospital, Ottawa, Ontario, Canada

    • Erin Keely
  7. Ottawa Research Institute, Ottawa, Ontario, Canada

    • Erin Keely
  8. Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada

    • Gail E. Graham


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Conflict of interest

The authors declare that they have no conflict of interest.

Corresponding author

Correspondence to Priya T. Bhola.

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