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What role for genomics in medicine? Chief Editors Aarno Palotie and Taru Tukiainen lead new specialty in Frontiers in Genetics

Male scientist looking at genome codes in a lab amongst scientific apparatus

Increasingly dubbed the medicine of the future, genomic medicine is finally becoming a reality. Using genomic information in healthcare solutions is only set to become a mainstay in solving the sorts of health problems many of us are likely to face in the future.

Taru Tukiainen

Chief Editors Aarno Palotie and Taru Tukiainen of the University of Helsinki welcome articles in the new Frontiers in Genetics specialty on Genomic Medicine, on translating genomic information to healthcare solutions. Basic research to clinical applications of genomic medicine as well as studies of ethical and legal matters extending to their social implications are all encouraged.

Aarno Palotie

Chief Editors Aarno Palotie and Taru Tukiainen were asked for their insights on genomic medicine and their motivation behind the new specialty.

In your opinion, what is the main challenge facing the field of Genomic Medicine today?

The pace of translating genomic information into clinical practice varies widely across different areas of medicine. Next-generation sequencing for clinical diagnostics is routine in many Mendelian disorders and increasingly in diagnosing cancer. The application of pharmacogenomics is expected to move into clinical practice in the near future. Using genomic data in common, chronic diseases is as yet less well established and we hope to see advancement here too. Predicting the likelihood of disease based on polygenic risk scores is a rapidly evolving field.

Recent studies have demonstrated the utility of polygenic risk scores in enhancing and refining disease risk prediction, and the next challenge is to introduce these prediction models to healthcare settings. How such new and unmodifiable risk information is received by the general public and how to educate healthcare professionals to communicate these genetic risk profiles to patients remain open questions.

One immediate challenge that the whole field of genomics needs to tackle is the disproportionate representation of select ancestries in genomic data sets. We need to increase data and analyses of non-European populations to provide more representative reference databases for various genomic medicine approaches. Projects like gnomAD have done a tremendous job in this respect in the Mendelian disease space, however, for instance, due to the heavy bias for European study samples in genome-wide association studies many of the existing genetic risk prediction models for common, chronic disease are applicable only in populations of Caucasian ancestry. Thus, as polygenic risk scores are now entering the clinic, it is crucial to extend prediction models to other ancestries to ensure these new healthcare solutions avoid promoting health disparities.

Why is this specialty so timely?

We are expecting the full potential of large-scale genomics studies to improve human health to be realized in the near future in the form of more individualized and targeted healthcare solutions. In the past decade, we have gathered copious amounts of genomic data and made significant and often unexpected discoveries regarding disease etiology, genetic architecture and global patterns of genetic variation, yet it is now time to translate this knowledge into clinical implementation and functional and mechanistic insights to fuel the development of new therapies. Achieving these goals needs a vast amount of research. Various disciplines need to contribute towards a successful outcome. For instance, there is a call for pipelines to interpret this data and translate it into meaningful insights into individual health and at the same time there is a need to consider the ethical, legal and social implications of sharing the genetic data and related discoveries. Here we welcome an exchange between different disciplines that include genomics of rare and common diseases, different omics, clinical pilots as well as ELSI-aspects.

Is Open Access a factor in helping solve challenges in your field?

For a fast-evolving field such as genomic medicine it is crucial to share and communicate new findings to the genomics and medical communities and beyond as swiftly as possible without paywalls or other barriers limiting access. We believe that Frontiers in Genetics with its open access policy and efficient peer review process is thus an excellent forum for dissemination of research results from diverse types of genomics studies.

What is your main aim as Chief Editor of this specialty? How and why do you encourage researchers to get involved and contribute to it?

Our main aim is to provide a rapid and community-engaging platform for communicating research findings and ideas that relate to the diverse aspects of genomic medicine. Hence, Genomic Medicine has a broad scope: we welcome manuscripts from all steps of the process of translating genomic information to healthcare solutions, from basic research to clinical applications as well as studies on ethical and legal matters including their social implications. Frontiers in Genetics and our specialty offers multiple means by which researchers can contribute and communicate their research output. Besides the more traditional research articles, reviews and technical reports, we find that research topics are a particularly exciting way to engage the community and offer researchers a great opportunity to promote and advance research on a theme that they find of special interest and relevance. We hope to receive suggestions for research topics and of course submissions of exciting research articles, perspectives, etc. Ultimately, Genomic Medicine is dedicated to shaping the field and building knowledge together.

The following Research Topic is currently open for submissions:

Chromosome Biology as a Key to Understand Disease Mechanisms, Genome Architecture and Evolution

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