About this Research Topic

Background

Advancement and increasing availability of sequencing technologies, computational pipelines for variant interpretation, and training of clinical personnel, coupled with decreasing sequencing costs, have nudged genomic sequencing ever closer to the practice of routine health care. While genetic testing has demonstrated utility as an indication-based diagnostic tool for certain diseases, the full potential of genomic sequencing as a non-diagnostic tool for population-level screening is not yet realized.

DNA-based population screening to detect an individual's underlying predisposition to serious genetic conditions and improve health outcomes through risk assessment, early detection, and disease prevention, and timely treatment could accelerate the practice of precision public health. However, ascertainment of otherwise apparently healthy individuals with underlying genetic risk will necessitate a departure from the traditional model of familial or personal risk-based genetic testing in speciality settings to a population-based model of screening in primary care or community settings. Adoption of a population-level genomic screening strategy will necessitate developing a sufficient evidence-based, dismantling barriers to equitably enacting such an approach in the context of clinical care and designing and conducting pragmatic trials. Given the low frequency of individuals with a heritable genetic risk, sharing of study methods and data from evidence-gathering pilot studies are needed to foster the linkage of observations and outcomes to collaboratively address these gaps. With the ever-increasing number of settings carrying out DNA-based screening, this Topic Issue encourages a broad range of contributions in support of accelerating the implementation of human genome sequencing for precision public health.

This Research Topic intends to showcase the breadth of perspectives and approaches that comprise the current state of knowledge about DNA-based population screening, along with genome sequencing data and clinical outcomes from ongoing clinical and research programs in a variety of settings. Submissions of the following types of prospective articles are welcomed: Original Research, Reviews, Protocols, Policy and Practice Reviews, Perspectives, and Opinions.

Subtopics may include, but are not restricted to, the following:
1) Assessing patient, provider, and health systems success factors of clinical and/or research-based pilot population screening programs (recruitment, enrollment, outcomes, informed decision-making, return of results, ELSI);
2) Clinical utility and health economics outcomes from return of genomic information compared to standard of care;
3) Technological aspects of DNA-based population screening 4) Knowledge integration processes for assessing clinical validity and clinical utility;
5) Implementation challenges for population-level screening (e.g. barriers and facilitators for participants and providers);
6) Stakeholder engagement to enhance utility, inclusivity, and equity of recruitment and enrollment;
7) Education and resources for various stakeholders around issues of informed decision-making (consent), understanding of results, data sharing, and clinical follow-up;
8) multi-purpose use of accumulated biosamples for DNA-based population screening;
9) insurance coverage for follow-up care of individuals detected through population screening;
10) infrastructure for and governance of genomic and associated data.

Keywords: genomic screening, genetic testing, DNA sequencing, clinical utility, clinical validity, precision medicine, public health, health outcomes, health economics

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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