Telegenetics: a systematic review of telemedicine in genetics services

Jennifer S Hilgart, Julie A. Hayward, Bernadette Coles, Rachel Iredale

Research output: Contribution to journalReview articlepeer-review


PURPOSE: Telemedicine is being increasingly used in many areas of health care, particularly to reduce the barriers that rural populations face in accessing health-care services. Telemedicine may also be effectively utilized in clinical genetics services—an application that has been termed “telegenetics.”

METHODS: A systematic review of the literature was conducted to identify studies of genetic consultations carried out through video conferencing so as to determine whether conclusions can be drawn about the value of telegenetics. A total of 14 articles reporting data from 12 separate studies met the inclusion criteria.

RESULTS: In a majority of these studies, patients received their telegenetics consultation at a local clinic or outreach center, from where they communicated via a synchronous video link with a genetic spractitioner. All the studies reported high levels of patient satisfaction with telegenetics,and patients were generally more receptive to telegenetics than the genetics practitioners were. The studies had limitations of small sample sizes and lack of statistical analyses.

CONCLUSIONS: This review suggests that telegenetics may be a useful tool for providing routine counseling and has the potential to evaluate pediatric patients with suspected genetic conditions. Prospective,fully powered studies of telegenetics that explore the accuracy of diagnoses and patient outcomes are needed to allow informed decisions to be made about the appropriate use of telemedicine in genetics service delivery.

Original languageEnglish
Pages (from-to)765-76
Number of pages12
JournalGenetics in Medicine
Issue number9
Publication statusPublished - Sept 2012


  • Adult
  • Child
  • Genetic Counseling
  • Humans
  • Patient Satisfaction
  • Prospective Studies
  • Referral and Consultation
  • Rural Population
  • Surveys and Questionnaires
  • Telemedicine
  • Videoconferencing
  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Review


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