The Afib CAUSE study is intended to evaluate the known genetic variants, along with the variants of uncertain significance (VUS)
US-based medical genetics company Invitae has unveiled Invitae Discover, a clinical research platform designed to leverage Apple Watch’s biometric data to better understand the genetic causes of disease.
In relation with the American Heart Association’s Scientific Sessions on genetic screening in familial hypercholesterolemia, Invitae intends to start the first study using the platform to evaluate genetics in cardiovascular disease.
Invitae chief medical officer Robert Nussbaum said: “The creation of the Invitae Discover platform will make it easier to conduct studies that assess genetic test results alongside the biometric data that is now easily available on Apple Watch, thereby joining basic electrophysiological data with genetic information in order to advance our understanding of the genetic underpinnings of disease and help improve clinical care.
“Our first study on the platform is designed to determine the contribution of certain genetic variants to clinical presentations of atrial fibrillation and other cardiovascular conditions associated with abnormal heart rhythms, as well as to improve the interpretation of genetic testing results.”
Institutional Review Board (IRB) supervise the study to be conducted
Afib CAUSE, the first study on Invitae Discover, will combine health and activity data from Apple HealthKit with clinical genetic testing results, in patients enrolled through the Invitae Discover app, which is available on the Apple app store.
The company said that the Afib CAUSE study is enrolling US residents aged 18 years or older and the criteria for enrolment can be accessed through the Invitae Discover app.
The study is not only intended to evaluate the known genetic variants but also to specifically assess the biometric data for patients whose genetic testing included variants of uncertain significance (VUS).
It is aimed at building preliminary data for improved variant classification and, providing evidence to support the resolution.
Invitae claims that it is aimed at bringing broad range of genetic information into mainstream medicine, and to aggregate the world’s genetic tests into a single service to improve healthcare for people through high quality, less time, and lower price.