Editorials in 2022

Large-scale genotyping and phenotyping efforts, including biobanks, have revolutionized our understanding of the genetic architecture of human traits and diseases. Years of ever-larger genome-wide association studies (GWAS) have produced a catalog of genetic variants that contribute to complex traits. A corollary of this research has been the development of personalized polygenic scores (PGS) or polygenic risk scores (PRS).

In this issue of Nature Genetics, we celebrate the legacy of Gregor Mendel, who was born 200 years ago. We also note the 30th anniversary of the launch of Nature Genetics. The convergence of these two milestones helps us to look back on how far the genetics field has come, and also to look to the future to see where we are heading.

The genetics community has a particularly important part to play in accelerating rare disease research and contributing to improving diagnosis and treatment. Innovations in sequencing technology and machine learning approaches have positively affected diagnostic success, but more coordinated efforts are needed to move towards effective therapies or even cures for these important, and sometimes overlooked, class of diseases.

In recent years, large-scale genomic studies have been performed in attempts to determine how genetic variation in the human host influences the gut microbiome. As microbiome traits are very heterogeneous, new analytical approaches are needed to move this field forward. By using genetic tools, there is a huge opportunity to enrich our understanding of the complex link between humans and our intimately associated microbial species.

We kick off 2022 by noting that the 200th anniversary of Gregor Mendel’s birth will be on 20 July 2022. We look forward to celebrating this milestone and reflecting on how far the genetics field has developed in 200 years. Here are some of the things that we are most excited about for 2022.