Gene Sequencing in the Clinic

Returning for a second presentation at the 2022 Oncology Clinical Pathways Congress, Mahek Shah, MD, MBA, MS, Physician Executive, Investor, Advisor and Managing Partner, Harvard University and WTM Advisors, spoke on “Genomics: Sequencing as-a Service in the Clinic.” Dr Shah shared his insight into the increased usage of gene sequencing in health care.

As of May 2019, more than 30,000 genetic tests in the National Institutes of Health Genetic Testing Registry list next-generation sequencing (NGS) as their primary test method, reported Dr Shah. Additionally, the clinical gene sequencing market is rapidly growing, with $10 billion spent in 2021, and a predicted $31 billion to be spent in 2027.

The fast-growing clinical gene sequencing market’s main challenge is the expense it requires to set up the lab and run it.

“I want to talk less about the science purely and more about where the field is going,” Dr Shah said. “If you know disruption theory, it’s very much classic disruption theory: things that were done previously in a large institution—call it health system, call it hospital—are moving toward a different location of care, and this is where genomics and sequencing is going. It has benefits, but as you can imagine, disruption also upsets a few legacy players in the field as well.”

The goal for the future, according to Dr Shah, is to enable gene sequencing-as-a-service in clinical settings without the capital expenditures or operating expenses. This includes automated sample preparation, labs at the needed locations, and on-demand sequencing that would result in faster turnaround. This also means that patients would pay per test.

“Diagnosis is impacted by gene sequencing because we have targeted therapies, we have awareness of subtypes of diagnoses, which requires a different pathway to treat,” Dr Shah explained. “Genetic screening is becoming more and more popular, both in the health care industrial complex but also in the home, and treatment is impacted by this revelation.”

By creating a smart data flow process, analysis bottlenecks would be eliminated.

The existing gene sequencing model has roughly 80 hours of workflow time and over 9 hours of hands-on time, where it is expected that in the future those numbers will drop significantly to 26 hours of workflow time and 1 hour of hands-on time.

“The future really is compelling,” Dr Shah said. “If you’re looking at 3 hours in the plasma isolation and DNA extraction, 3 hours down to 15 minutes.”

A major benefit of this model is that gene sequencing samples would stay in the clinic, which alleviates any privacy or security concerns.

Dr Shah explained technology advances, such as microfluidics, next-generation sequencing, advanced bioinformatics powered by AI/ML, and cloud scalability and accessibility to high-power computing all aid in the move to sequencing-as-a-service.

Strategic advances, like longitudinal studies, COVID-19, security and privacy concerns of genomic data, and precision medicine also help with this initiative.

“The thought that I want to leave you with is, what could oncology care look like when you move sequencing, when you move some of these things closer to the patient. Closer to that sacred relationship that still exists between the oncologist and clinical team and the patient and their family.”