We Screen Newborns Don’t We? Progress in DNA-based Population Screening
May 18, 2023, 10:00 am – 11:00 am ET
Rapid advances and decreasing costs of human genome sequencing technologies are accelerating the integration of genomics into clinical practice. Although genomic sequencing has demonstrated utility as an indication-based diagnostic tool for certain diseases, the full potential of DNA sequencing for population-level screening is yet to be realized. DNA-based population screening has enormous potential to identify people with underlying genetic predisposition to serious diseases such as cancer and heart disease, who represent 1–2% of the population. Early detection, disease prevention, and timely treatment can improve health outcomes and equity, and usher in a new era of precision public health.
In 2013, James Evans and coauthors proposed that population screening for selected genetic pathogenic variants could help realize the promise of public health genomics. They called for a new partnership to be forged between the genomics and public health communities. The partnership would expand the focus from solely common diseases and embrace the newly developed power of genomics to identify those rare (but, in aggregate, substantial number of) individuals in the population who carry highly penetrant mutations that confer a high risk of preventable diseases. This effort would use affordable, massively parallel sequencing technology to sequence a small, defined set of genes that meet the twin bars of high penetrance and effective intervention.
As part of 2023 Public Health Genetics and Genomics week, we review in this webinar the concept of population genomic screening for rare diseases beyond the newborn period, share research progress made in the last decade, and discuss the path forward to prepare the medical and public health communities for population-based genomic screening.
![Wood2 headshot of Grant Wood](./DNA_pop_screen_2023_htm_files/Berg2.jpg)
Jonathan S. Berg, MD, PhD
Bryson Distinguished Professor, Genetics and Medicine
University of North Carolina
Chapel Hill, North Carolina
![Wood2 headshot of Grant Wood](./DNA_pop_screen_2023_htm_files/Milko2.jpg)
Laura Milko, PhD
Assistant Professor, Genetics
University of North Carolina
Chapel Hill, North Carolina
![Evans photo of James Evans](./DNA_pop_screen_2023_htm_files/Evans.jpg)
James Evans, MD, PhD
Retired Bryson Professor of Genetics and Medicine
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina
Selected References
- We screen newborns, don’t we?: realizing the promise of public health genomics. Evans JP et al. Genet Med. 2013 May;15(5):332-4
- Editorial: DNA-based population screening for precision public health. Milko V et al. Front Genet. 2022 Oct 24;13:1061329
- Prioritizing the detection of rare pathogenic variants in population screening. Lacaze P et al. Nat Rev Genet. 2023 Jan 13
- From genes to public health: are we ready for DNA-based population screening? Khoury MJ et al. Genet Med. 2021 Jun;23(6):996-998
- The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. Foss KS, et al. J Pers Med. 2022 Apr 26;12(5):692
- DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps. Murray MF et al. JAMA. 2020 Jan 28;323(4):307-308
- Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening. Meagher KM et al. Per Med. 2018 Sep;15(5):343-346
- Finding the Rare Pathogenic Variants in a Human Genome. Evans JP, et al. JAMA. 2017 May 9;317(18):1904-1905
- The promise and peril of genomic screening in the general population. Adams MC, et al. Genet Med. 2016 Jun;18(6):593-9
- Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews. Prince AE et al. Genet Med. 2015 Jun;17(6):441-3
Hosted by
- Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention
- Precision Public Health Network