The future of genomics: Improving outcomes with a “sequence once, query often” model

James Lu is a co-founder and SVP of Applied Genomics at Helix, a population genomics company. He co-founded Helix in 2015 and leads the company’s R&D, bioinformatics, quality, policy and external research collaborations. He was previously a faculty member at Duke University where he focused on translational genomics and developing machine learning methodologies for medical records. James holds an M.D. and Ph.D. from Baylor College of Medicine, and a B.S. and M.S. in Chemical Engineering from Stanford University.  

We sat down with James to get his perspective on the future of genomics and healthcare.

In most cases, it’s not. And as a result, right now millions of people in the US are living at an increased risk for highly actionable hereditary conditions - including things like heart disease and cancer. It turns out that 90% of at-risk individuals don’t know about their inherited risk and so they’re not able to take advantage of interventions that could save not only their lives, but also the lives of their family members. 

Historically, this has been because the clinical utility of broad screening wasn’t well known. But if you look at the evidence today and where the cost of sequencing is at, we’re hitting a tipping point where the utility of genomics for preventive care justifies population-scale screening. As the industry continues to generate more and more evidence to support this we’re likely to see faster adoption of these methodologies. 

In the modern healthcare system, there will be three key pillars of data: clinical data from EHRs, social determinants, and genomic data. By integrating these datasets rather than looking at them in siloes, these data can be used to inform comprehensive individual and population risk. This combined dataset will then be used to inform therapeutic and lifestyle choices. 

We’ll also see genome sequencing becoming the standard of care in specialty settings and starting to become standard of care in the PCP setting. 

Also germline genetics is the only dataset in healthcare that doesn’t change, so these data will be portable by the individual and stay with the patient whether they switch providers or insurance plans. This allows the data to be used multiple times throughout a person’s life — otherwise known as a “sequence once, query often” model. With this type of portability, one data set can be used to assess a person’s risk for certain types of cancer or heart disease, to understand what conditions they might pass down to future children, or to determine what medications work best for them. 

First off, we need to align the incentives across stakeholders, payers and providers in particular. Currently medical guidelines for genetic testing are restrictive and reimbursement is limited. What we’re seeing in reaction is that at-risk health systems are launching large-scale genetic screening initiatives to get access to this information and improve the health of their patient populations. So we need to continue to find ways to support healthcare providers in developing the evidence themselves — such as through initiatives like Renown Health’s Healthy Nevada Project and AdventHealth’s WholeMe project. 

Secondly, we also need genomics to gain traction in the community setting. We have a lot of work to do on improving the infrastructure and services to support this — including physician education, how we return results to individuals and their healthcare providers, and how we support individuals with genetic counseling. 

And lastly, we need to flip the traditional model of lab testing on its head. We shouldn’t have to re-sequence people every time they need another test. Your genome is the one biological dataset that doesn’t change over time. If we can store it, make it portable, and give individuals access and control, it can be used much more seamlessly in clinical care and impact more lives.

Plain and simple: It will save patient lives. By identifying people at risk for genetic conditions earlier and more broadly, we can help prevent or delay the onset of disease. We can also prevent adverse drug reactions and identify treatments earlier. If we’re successful, we should start to eliminate scenarios where 30 year olds with Lynch Syndrome get diagnosed only after manifesting multi-system disease. 

Learn more about how Helix is working with innovative health systems across the country to make this future a reality at Helix.com.
 

Helix powers life-changing population health programs. Using clinical-grade sequencing and secure data storage, Helix facilitates immediate and ongoing disease screening, precision medicine, and patient engagement—all without having to resequence each person. One sample unlocks a lifetime of insights. Learn more about Helix's comprehensive population health solution at Helix.com.