The future is now: Technology's impact on the practice of genetic counseling

Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):15-23. doi: 10.1002/ajmg.c.31599. Epub 2018 Mar 7.


Smartphones, artificial intelligence, automation, digital communication, and other types of technology are playing an increasingly important role in our daily lives. It is no surprise that technology is also shaping the practice of medicine, and more specifically the practice of genetic counseling. While digital tools have been part of the practice of medical genetics for decades, such as internet- or CD-ROM-based tools like Online Mendelian Inheritance in Man and Pictures of Standard Syndromes and Undiagnosed Malformations in the 1980s, the potential for emerging tools to change how we practice and the way patients consume information is startling. Technology has the potential to aid in at-risk patient identification, assist in generating a differential diagnosis, improve efficiency in medical history collection and risk assessment, provide educational support for patients, and streamline follow-up. Here we review the historic and current uses of technology in genetic counseling, identify challenges to integration, and propose future applications of technology that can shape the practice of genetic counseling.

Keywords: artificial intelligence; clinical decision-support system; genetic counseling; natural language processing; risk assessment; technology.

Publication types

  • Review

MeSH terms

  • Artificial Intelligence
  • Genetic Counseling / methods*
  • Genetic Counseling / trends
  • Genetic Techniques / trends
  • Genetics, Medical / methods*
  • Genetics, Medical / trends
  • Humans
  • Internet
  • Pedigree
  • Referral and Consultation / organization & administration
  • Software
  • Telemedicine / methods*
  • Telemedicine / trends