Genetics and Electronic Health Records – Opportunities for Personalized Medicine

17 May 2021. The 2020-2021 NSHG-PM webinar series continued on 14 May 2021 with presentations on a topic titled “Genetics and Electronic Health Records – Opportunities for Personalized Medicine,” by Lili Milani and Neeme Tõnisson, University of Tartu, Estonia.

In addition to audience Q&A, there was a panel discussion with Sara Hägg of Karolinska Institute, Nina Mars of the Institute for Molecular Medicine Finland, and Kári Stefánsson of deCODE genetics.

The Estonian Biobank is a volunteer-based biobank. Today, it contains a collection of health and genetics data of over 200,000 individuals, approximately 20% of the adult population of the country. The health records of the biobank participants are regularly updated using national electronic health databases and disease registries. A unique feature of the biobank is that participants can be contacted again for further studies based on specific genetic findings.

As a result, national clinical pilot studies evaluating the implementation of personalized medicine have been launched – one for female breast cancer genetics-based screening and another for prevention of cardiovascular disorders. Many more are on the way, including studies on the genetics of drug metabolism and implementation of pharmacogenetics on a national level. What are the advantages of genetics-first approaches, and when will healthcare systems be ready to integrate genetics in disease prevention?