We Screen Newborns Don’t We? Progress in DNA-based Population Screening

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.