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Experts Agree, a review of:  Perspectives of Rare Disease Experts on Newborn Genome Sequencing

The future of newborn screening is on the horizon, with groundbreaking technology like FORESITE 360 leading the way. A recent study in the Journal of the American Medical Association surveyed rare disease experts to explore their views on implementing Newborn Genome Sequencing (NBSeq) into newborn screening programs. Currently, newborn screenings are single-use, state-mandated, and only screen for up to 50 diseases. The study results indicate that experts are in substantial agreement (over 85%) that Newborn Genome Sequencing should be used to enhance newborn screening.  

By overcoming the limitations of traditional screening methods and accommodating emerging treatments, FORESITE 360 is positioned at the forefront of this transformative research, promoting earlier diagnoses, improved surveillance, and enhanced health outcomes for countless newborns worldwide. 

Benefits of Newborn Genome Sequencing

But what makes FORESITE 360 and NBSeq so appealing? For one, it can identify conditions that are currently difficult to detect using existing methods. For example, OTC deficiency, a severe condition affecting male infants, could not only be more accurately identified using FORESITE 360, but the time it takes for a diagnosis is swift. This technology could also be used to detect additional infant-onset metabolic conditions that may not have a stable biochemical marker.

Another advantage is that NBSeq can accommodate new and emerging pharmacological treatments. As therapies evolve and become available, the technology can be easily adapted to identify infants who might benefit from these breakthroughs. Currently, FORESITE 360 screens for over 50 medication types to predict the response a child will have to certain medications based on their genetic profile.  

Predicting Cancer and Bleeding Disorders

The study also found that experts support the inclusion of gene-disease pairs related to childhood-onset cancer predisposition and bleeding disorders. For instance, RB1, a gene associated with hereditary retinoblastoma, was endorsed for screening by 89.3% of the experts. Early detection of retinoblastoma leads to better outcomes and preservation of vision. Hemophilia A and B were also highly endorsed, indicating that future newborn screenings should be expanded to include these conditions as well.

The Future In Healthcare

It's important to note that younger experts were more likely to support the integration of NBSeq into newborn screening. This suggests that as more professionals in the field become familiar with genomic screening tools, they will become more open to using them in healthy newborns. Implementation of this caliber of genetic screening may take decades to become standard practice, but FORESITE 360 is available now and offers this advisable screening today.

While this study comes with some limitations, including potential selection bias and primarily US-based experts, it still sheds light on the potential benefits of NBSeq. 

This survey study reveals that rare disease experts are largely supportive of using NBSeq to expand newborn screening for genetic disorders. FORESITE 360, spearheading this innovation, holds the potential to transform countless lives by enabling earlier diagnoses and optimizing health outcomes. Designed with input by parents, bioethicists, genomics leaders, and clinicians in addition to rare disease experts, FORESITE 360 has the ability to identify previously difficult-to-detect conditions and adapt to emerging therapies. FORESITE 360 offers a more comprehensive approach to newborn screening with actionable treatment plans. As the medical community increasingly embraces genomic screening tools, FORESITE 360 stands as a beacon of hope for the future of newborn healthcare, poised to benefit innumerable infants and families around the world.

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