Watch NSHG-PM Webinar: Genomic Risk and Its Use in Disease Prevention

 

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             Samuli Ripatti

4 February 2021. The 2020-2021 NSHG-PM webinar series continued on 3 February 2021 with a presentation titled “Genomic Risk and Its Use in Disease Prevention” by Dr. Samuli Ripatti of FiMM - Institute for Molecular Medicine Finland.

Ripatti was joined for discussion by Andres Metspalu of the Estonian Genome Center; Juni Palmgren of Karolinska Institutet; and Kári Stefánsson, Patrick Sulem, and Daniel F. Guðbjartsson from deCODE genetics.


Listen to the webinar.

 

Overview

The genetic discoveries over the past 15 years not only have led to findings of new biological insight of hundreds of diseases, but also provided understanding of the high level of polygenicity of common complex diseases. Statistical algorithms are now able to capture efficiently these genome-wide effects on disease risks and turn them into person-specific risk estimates or polygenic risk scores.

In this talk I reviewed the development of polygenic risk scores, talked about the latest results in applying them to estimate risks in diseases such as coronary artery disease and breast cancer, and discussed the opportunities they provide in prevention or early detection in many diseases. I also described the experiences of returning the risk estimates to individuals and the changes in health behavior this has induced.

 

Questions for Discussion

  1. What do you see as the biggest hurdles to using genetic data widely in disease prevention? How do we overcome these hurdles?
  2. Are there good examples or success stories in your country?
  3. What could NSHG-PM do to promote a wider use of personalised genetic risk information in health care?

 

Background Material

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers.
Mars, N., Koskela, J.T., Ripatti, P. et al.
2020 Apr;26(4):549-557.

The role of polygenic risk and susceptibility genes in breast cancer over the course of life.
Mars, N., Widén, E., Kerminen, S. et al.
Nat Commun. 2020 Dec 14;11(1):6383.

Communicating polygenic and non-genetic risk for atherosclerotic cardiovascular disease - An observational follow-up study.
Widen E, Junna N, Ruotsalainen S, et al.
Preprint on MedRxiv, September 18, 2020.

 

About the Society

The Nordic Society of Human Genetics and Precision Medicine (NSHG-PM) works with stakeholders at national, regional, and global levels to: 1) establish a Nordic framework for research into the genetics of human diseases, evolution, and population history; 2) accelerate discovery of disease-influencing genes; 3) translate these findings for precision medicine to improve public health; and 4) uphold and promote the highest legal, regulatory, social, and ethical standards.

The benefits of membership for you and your research include reduced registration fees at NSHG-PM conferences, symposia, and select workshops. Equally important, you are helping to support the field as NSHG-PM works to educate and advocate for human genetics and precision medicine research in academic, policy, and public education arenas.