High throughput genome sequencing is approaching into clinics at a lightning pace. Recent advancement on the long read sequencing technologies made it possible to decipher many inaccessible biological insights (i.e genome phasing, de novo assembly, repeat expansion, T2T mapping) that was not achievable with short read technologies. With all the seq-tech goodies, the newest technologies hold promise to make a big stride in clinical genetic diagnosis.

Well, not so fast! Even if you solve the computation and storage requirements for such large datasets, the elephant in the room is how to make sense of all these genetic variants?

Although genetics contributes to over 80% of the rare disease risk factors, genome sequencing still can not resolve variants/mutations that are causal due to interpretation bottleneck. Each genome produces over 4 million variants and thousands of these variants are rare. Probing each variant following American College of Medical Genetics (ACMG) or any other equivalent regulatory guidelines require massive data integration for knowledge gathering. It is not feasible for clinics and hospitals to build complex databases and keep it updated for indefinite time for clinical genetic services. Industry needs to bring forward credible and potent solutions to resolve genome interpretation bottle neck. GenomeArc built a platform based solution ‘Horizon’ and instantly understood, this is not a one off solution for any clinical genetics setting, rather ‘Horizon’ will require constant update to fine tune its genomic databases

Rare genetic disorders consist of complex symptoms and are dependent on crucial genetic information to stop diagnostic odyssey and move towards early therapeutic or management related interventions. Whole genome complexities can be an overwhelming technology for clinics and hospitals. We hope one day, variant interpretation technologies will mature enough for comprehensive clinical molecular diagnosis and will be one of the first tier tests for therapeutic intervention as well.