Over the course of the next few decades, the availability of cheap, efficient DNA sequencing technology will lead to a medical landscape in which each baby’s genome is sequenced, and that information is used to shape a lifetime of personalized strategies for disease prevention, detection, and treatment.- Francis Collins

Francis Collins led the Human Genome Project which took 13 years and a consortium of multidisciplinary researchers worldwide to sequence ~90% of the human genome. As the project aimed to sequence DNA from a set of organisms, there was a wave of innovation to improve DNA sequencing methods. The most important legacies of the HGP are the openness to data sharing across the scientific community and the establishment of the Ethical, Legal, and Social Implications (ELSI) Research Program.

The HGP set the stage for large-scale scientific undertakings that prompted innovation in techniques and technologies. Fast forward to 20 years after the completion of the HGP, such scientific endeavors are becoming well-accepted. The latest one on the list is the two-year Newborn Genomes Programme by Genomics England in partnership with the NHS.

Newborn Genomes Project

The project aims to sequence genomes of ~200,000 babies to detect about 200 rare genetic conditions that are treatable. Beginning late this year, this project aims to identify potential susceptibilities to developmental disorders and other risks. Typically, diagnosing such conditions can take four to five years if done using diagnostic tests other than genomic analysis.

With new technologies and opportunities, there are scientific, technical, ethical, and societal challenges to overcome. Keeping this in mind to design the pilot of the Newborns Genome Project, a wide range of experts, from medical ethicists, geneticists, maternity healthcare experts, new/expectant parents, and people with lived experience with genetic diseases were consulted. The public dialogue and expert dialogue were vital in capturing the concerns, risks, and potential of sequencing the postnatal whole genome.

Key Themes from the Public and Expert Dialogues

Some of the major themes that arose from these dialogues were around:

• the ability of WGS to conclusively predict disease in pre-symptomatic babies
• how parents could be best guided through uncertainty to avoid unnecessary “medicalization”
• to ensure that the initial panel of conditions screen is developed in a transparent and equitable manner
• to ensure that data is appropriately used and safeguarded
• ensure the inclusion of ethnically diverse populations that often lack in medical research projects is another major theme that will be prioritized

The NGP is in its initial design, test, and iterate stage where they will establish parameters before the program is launched.

Whole Genome Sequencing Projects for Neonates: World Map

Whole genome sequencing has entered an exciting new phase as the technologies, expertise and our understanding of genetics have improved. The information from WGS is critical to developing personalized strategies for preventing, detecting, and treating diseases.

On a global scale, eight projects are either currently ongoing or being planned for launch that focus on the whole genome sequencing of neonates. The Newborn Genomes Programme is the largest of the eight newborn screening projects being planned across the globe.

With a plethora of such projects being launched worldwide, these are exciting times for the scientific community. Not just the scientific community, these projects are a commendable step toward improving the lives of patients and caregivers where inclusion, data sharing, data safety and faster diagnosis are being prioritized.