Population-Scale Genomics Opens the Door to More Personalized Care

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Leading health systems show how utilizing genomic medicine can lead to more personalized and proactive care

By James Lu, MD, PhD, Co-founder and CEO, Helix

A patient’s DNA information contains valuable insights into if they’re at a higher risk for certain diseases and has the potential to help healthcare providers deliver more personalized and effective clinical care. But unfortunately, this information still remains outside the current standard of care.

There are several reasons for this: until recently, the cost of DNA sequencing has been high and clinical guidelines for using these data have been restrictive. As a result, healthcare providers often have had limited access to DNA insights. In addition, these data have often been hard for physicians to access rapidly.  

However, advances in genomics and decreases in the cost of cloud computing and storage have led to the emergence of new, more efficient, and more economical models of accessing sequenced DNA information. And these new models are inspiring health systems and clinicians to rethink how they use patients’ biological information to provide care.

One sequence for a lifetime of care

In healthcare, the DNA you inherit from your parents is the one biological dataset that does not change with time. Hypothetically, if you can generate a high-enough quality dataset just once, store it securely, and make it routinely accessible, then a patient can have that data available throughout their lifetime to ensure they receive personalized care.   

In this type of model, which Helix refers to as “Sequence Once, Query Often™,” genomic information can become on-demand – able to be accessed and used at the point-of-care to inform clinical decision-making. This makes the promise of personalized patient care a reality.  Healthcare providers and patients can benefit from the wealth of insights that a patient’s DNA can provide to optimize treatments and therapies, prevent the onset of diseases by identifying genetic risk early, and diagnose the causes of un/under-diagnosed conditions.

By generating a future-facing and broad genomic dataset that can be used for a broad range of clinical queries – healthcare providers can confidently meet a patient’s wide range of care needs today and well into the future. As genomics research advances, for example, new learnings can be used to better interpret each patient’s DNA and better understand their health.

Consider a hypothetical female patient. A one-time sequencing of her DNA could give her and her healthcare provider a lifetime of useful insights. That could include identifying if she’s at risk to develop cancer, if she’s at risk of passing down potential diseases to a future child, if her DNA may affect the type of treatment she should receive or, potentially, if she may be highly susceptible to emerging infectious diseases like COVID-19 or other respiratory illnesses.

Because of these new possibilities for patient care, leading health systems have been accelerating their population genomics programs and are now proving that these programs are both practical and beneficial.  

Large-scale genetic screening in the U.S.

Population genomics initiatives worth highlighting include programs in the U.S. that are using a similar approach on clinical screening and working to reveal how genetics can impact and improve personal health. 

One study in the U.S. that Helix is supporting is assembling one of the largest genomic and health data sets in the world – and changing the standard of care in the community where the research is taking place.

To date, more than 50,000 people have participated in the study. As the program expanded, it leveraged one of the world’s largest CLIA-certified, CAP-accredited next-generation sequencing labs to make sure that sequencing can occur at the scale required. It also uses a proprietary assay known as Exome+®, which covers the entire exome plus more than 300,000 informative non-coding regions.

Participants are screened for three highly actionable conditions: Familial Hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch Syndrome. The study has found that 1 in 75 participants had a variant in their DNA that put them at a higher risk for one of these conditions. Of those who were found to be at higher risk, 9 in 10 wouldn’t have been identified as such using traditional medical guidelines. What’s more, nearly 1 in 4 had already developed indications of the disease.

Elsewhere, the Minnesota-based Mayo Clinic Tapestry study is creating a library of sequencing data on 100,000 participants to screen them for the same three conditions. And in its WholeMe study, AdventHealth plans to sequence DNA from 10,000 Floridians to screen them for hereditary heart conditions and cancer, and reveal other insights about their health and heritage.

Leading the Way

Even as initiatives charge ahead, obstacles to wider spread adoption of population-scale genomics remain.

For example, more specific societal guidelines are needed to outline how to best use genomics on an all-comer population in a standardized way. As these guidelines are developed, and as genomics adoption increases as a result, expanded reimbursement from payers will ideally also happen in tandem.

These changes will help bring personalized, genetics-driven patient care to health systems across the country. And yet, many in the genetics and healthcare fields are not satisfied at the prospect of waiting several years for this to happen.  

Today, health systems, genomics companies and research institutions are working together to make DNA sequencing a routine part of clinical care – and they’re creating better patient outcomes and healthier communities in the process.

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James Lu, MD, PhD, co-founded Helix in 2015 and now serves as CEO. He previously served as president and chief scientific officer. James led the development of Helix’s Exome+®assay and pipeline, established the company’s CLIA/CAP lab and created the Helix Research Platform.Under James’ leadership, Helix was awarded the first and only FDA authorization for its whole exome sequencing platform. He also drove Helix’s large-scale COVID-19 testing and viral surveillance program, securing crucial Rapid Acceleration of Diagnostics (RADx) funding from the National Institutes of Health (NIH).

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