The Latvian Biomedical Research and Study Centre has successfully completed the implementation of the Reform Project 4.1.1.r of the Recovery and Resilience Facility fund, within the framework of which a reference genome of 3,520 Latvian residents has been established.
The Latvian genome reference, together with genome data from other European populations, will be included in a unified European genome database as part of the “1+ Million Genomes” (1+MG) initiative. The goal of the 1+MG initiative is to ensure secure access to genetic and sample-related clinical data across Europe, to help doctors predict, prevent, and diagnose diseases, and to better treat patients based on their individual genomic characteristics. More and more people will benefit from data sharing and from physicians having access to multiple associated genomic databases.
The main benefits are expected in four key disease areas – rare diseases, cancer, common chronic diseases and their therapies, and infectious diseases. Firstly, the reference genome will significantly aid in the diagnosis of rare diseases by helping to refine disease-causing mutations within existing diagnostic models. By expanding whole genome sequencing (for example, providing it to newborns), most inherited diseases could be detected before they manifest, allowing timely and appropriate treatment. Secondly, the reference genome is already being used in cancer diagnostics, helping to identify somatic cancer-causing mutations, which are increasingly the basis of targeted cancer therapies.
The greatest potential for using the population genome reference lies in accurately determining the risk of developing common chronic diseases, which place the greatest economic burden on Latvia. In this case, the genome reference, combined with a relatively inexpensive genotyping test, enables a much larger portion of the population to more accurately identify individual disease risks as well as the effectiveness of certain medications. This provides an opportunity to optimize screening procedures for many diseases, enabling early detection or even prevention of illnesses such as cancer, diabetes, and cardiovascular diseases. For infectious diseases, this approach will also help identify high-risk groups who are more vulnerable.
Feedback from participants:
• Thank you for the opportunity to contribute my genes to such a project! I am a scientist myself and understand how time-consuming data processing can be, so I will wait patiently for the promised results. Wishing you the best of luck!
• It is nice to know that each of us is special to you and contributes to the overall advancement of medicine.
• Thank you for the fantastic opportunity to participate in this project. I eagerly await my report on ethnic ancestry composition and the launch of the new portal.
• I’m genuinely curious about what the overall results might look like, but I didn’t dare to hope that I’d be able to see results about myself. Many thanks to you, and I will wait for them patiently. Thank you for what you are doing for science and for Latvia. I sincerely wish that the Muse rests on your shoulder and inspires you to carry out more valuable scientific projects.
