Otten Ellen, Birnie Erwin, Lucassen Anneke M, Ranchor Adelita V, Van Langen Irene M
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Wessex Clinical Genetic Service, Southampton, UK.
Eur J Hum Genet. 2016 Feb;24(2):157-63. doi: 10.1038/ejhg.2015.83. Epub 2015 Apr 22.
Today's economic challenges and the changing landscape of clinical genetics are forcing us to consider alternative ways of providing genetic services, to comply with budget limitations and at the same time meeting the demands of increasing patient numbers and patient-centered care delivery. Telegenetics could be an effective and efficient way of counseling, but its use in Europe is not widely reported, nor is there evidence of international collaboration. We conducted an online survey among 929 genetics professionals, to explore the current availability and use of different telegenetics modalities in Europe. Our questionnaire was completed by 104 clinically active European genetics professionals. Telephone genetic counseling was used by 17% of respondents. Videoconferencing facilities were available to 24%, but only 9% of them used these for patient counseling. Various barriers to availability and use were cited, ranging from practical constraints, lack of professional support/knowledge, to lack of perceived suitability and need. The results show that telegenetics modalities are not currently in widespread use by our respondents, in part due to perceived barriers. To meet the changing economic, genetic, and societal circumstances, we recommend consideration of greater integration of telegenetics into regular clinical genetic care, to supplement existing care modalities. Professional cooperation, sharing knowledge, and establishing guidelines on a national and international level could contribute to successful and more widespread implementation of telegenetics. However, the perceived practical and regulatory barriers have to be overcome.
当今的经济挑战以及临床遗传学不断变化的形势，正促使我们思考提供遗传服务的替代方式，以符合预算限制，同时满足患者数量不断增加以及以患者为中心的护理服务需求。远程遗传学可能是一种有效且高效的咨询方式，但其在欧洲的使用情况鲜有广泛报道，也缺乏国际合作的证据。我们对929名遗传学专业人员进行了一项在线调查，以探究欧洲目前不同远程遗传学模式的可及性和使用情况。我们的问卷由104名仍在临床工作的欧洲遗传学专业人员完成。17%的受访者使用过电话遗传咨询。24%的人可以使用视频会议设施，但其中只有9%的人将其用于患者咨询。受访者提到了各种使用和可及性方面的障碍，从实际限制、缺乏专业支持/知识，到认为不合适和无需求等。结果表明，远程遗传学模式目前在我们的受访者中并未广泛使用，部分原因是存在这些被感知到的障碍。为应对不断变化的经济、遗传和社会环境，我们建议考虑将远程遗传学更广泛地融入常规临床遗传护理中，以补充现有的护理模式。专业合作、知识共享以及在国家和国际层面制定指南，可能有助于远程遗传学的成功实施并更广泛地推广。然而，必须克服这些被感知到的实际和监管障碍。
