Inherited cardiovascular diseases generally inherit following an autosomal dominant pattern meaning there is a 50% chance to transmit the disease-causing genetic defect to any of the offspring. If a mutation underlying disease is detected in the proband (the first person attending the cardiogenetic clinic), relatives can have predictive DNA testing, and – when they are carrier - be monitored and timely treated if needed. Currently, unfortunately less than half of relatives at risk attend genetic counselling in the first years after the genetic diagnosis in the proband. With the eCG (electronic Cardiovascular Genetics) Family Clinic, we aim to offer an easily accessible virtual clinic which better suits the needs and preferences of relatives. At this eCG Family Clinic, relatives will receive tailored information to support informed decision-making (with support of a virtual assistant), may decide to have a DNA-test at home if desired, and can be referred for local cardiac monitoring if they appear to be a carrier of the disease-causing mutation.
In this consortium, we focus on the development and implementation of the eCG Family Clinic. To inform development, we conduct consultation studies with stakeholders, including probands, family members, healthcare professionals and patient advocates, and we outline the economic, ethical, and legal aspects of this e-health initiative. In addition, the prototype of the eCG Family Clinic will be tested and evaluated in clinical care at the end of this consortium, in which it will be compared with current practice.
The consortium is multidisciplinary, including software developers, clinicians, and experts on ethical, legal, economic, communication and psychosocial aspects. Stakeholder participation is considered pivotal for this consortium’s success.
Prof. Dr. Peter van Tintelen (University Medical Centre Utrecht, dep. Genetics)
Prof. Dr. D. Heylen (University Twente, dep. Human Media Interaction)
Dr. M.A. Siemelink
University Medical Centre Utrecht, dep. Genetics