It’s Time to Fully Embrace Precision Medicine’s Promise in Pediatrics

Jan. 12, 2024
The outlook for genetic sequencing is bright in pediatric care, explains one physician expert

Jeremy Woods, M.D., is the director of precision medicine at Valley Children's Hospital in Madera, Calif. He discusses the growing importance of precision medicine, especially in pediatrics, and highlights its potential to revolutionize healthcare. Dr. Woods played a critical role in a successful project called "Project Baby Bear," which demonstrated the effectiveness of rapid genome sequencing in diagnosing and treating babies in pediatric intensive care units. This project led to changes in treatment, reduced hospital stays, and lower healthcare costs. Insurers like Medi-Cal in California are now covering genome sequencing.


Medicine typically treats patients using evidence derived from studies of large groups of people. Such studies are valuable, but they may ignore a patient’s individual biology. However, with the advent of next generation genomic sequencing, it is now possible to leverage the roughly three billion pieces of information in the human genome to gain insights into a patient’s individual biology.  The “one-size-fits-all” treatment and diagnosis paradigm was long overdue for a change and is finally being realized.


Now we know there are better ways to diagnose. It’s called precision medicine or personalized medicine. And it’s especially important in pediatrics—particularly in the management of rare disease and of pediatric cancer. Precision medicine is gaining traction at most hospitals, but more refinements are needed for the discipline to fulfill its promise.


The Journal of American Medical Association (JAMA) took notice, writing in 2019, “The precision medicine era is a test of the health system and the biomedical innovation system. Can we turn the revolution in knowledge of the human body into meaningful improvements in population health at appropriate prices?”


The short answer is yes. Especially in 2023.


Precision medicine gives healthcare providers the ability to explore at the genomic level and provide sequencing for relatively low costs and with relatively short turnaround times. The first human genome was mapped by the Human Genome Project from 1990-2003 at a cost of $2.7 billion. Costs to sequence a patient’s genome in the healthcare setting have now dropped to several thousand dollars. Turnaround times for genome sequencing have also dropped to a matter of days to aid in the diagnosis and management of critically ill patients. Armed with this biology—on an individual level—we can also dramatically accelerate targeted drug development to treat both rare and common disorders in our most valuable resource, our children.


Most children’s hospitals—especially those in major cities—are doing rapid genome sequencing. But it’s difficult to specify exactly how many, simply because medical professionals don’t always share their data. Why? They may be overwhelmed. The rate of change and innovation is phenomenal and the interpretation of data—three billion pieces of information per genome—takes time to effectively interpret. The U.S. also lacks a universal healthcare system such as the NHS in the UK, which leads to siloing of genetic data in each individual healthcare systems’ electronic health record.


Still, I believe the outlook for precision medicine appears to be bright. It simply makes too much sense for pediatric specialists and other medical practitioners to overlook.


In fact, according to market research firm, the global precision medicine market size was $83.4 billion in 2022, and is projected to reach $254 billion by 2032, realizing a Compound Annual Growth Rate (CAGR) of 12.1% in the forecast period (2023-2032).


According to the report, the factors driving precision medicine’s growth include advances in cancer biologics, the development of new therapeutic techniques such as gene therapy to treat cancer patients who receive predictive diagnostics, key discoveries like single nucleotide Polymorphism (SNP) and microarray/biochips, and overall research on the human genome, which has the potential to transform medical care for individual patients.


Of course, AI will also be key growth driver, thanks to its ability to help laboratories interpret vast amounts of clinical genomic data with greater accuracy and with fewer errors.


Geographically, while North America and Western Europe currently account for more than 62% of market share in the practice of precision medicine revenue, the Asia-Pacific region is “expected to grow at a greater pace among all the regions” by 2032, according to the research report.


One of the watershed moments in the rise of precision medicine was a joint effort among five children’s hospitals around California--including Valley Children’s Hospital in Madera, California, where I practice-- called “Project Baby Bear.” The project proved how effective rapid genome sequencing is at getting a diagnosis for patients in pediatric or neonatal intensive care units, determining what the outcomes were, and revealing the financial impact of the diagnosis on the healthcare system.


It was a proven success. Testing was conducted on 178 babies and families and we provided diagnosis for 76 babies. The genome testing led to a change in the treatment/management of 55 babies that resulted in fewer hospital stays and fewer procedures. Provisional results were provided in three days, resulting in reduced healthcare costs and downstream spending.


Before Project Baby Bear, hospitals didn’t get reimbursed for genome sequencing by healthcare providers. Now, Medi-Cal in California (with 12 million enrollees) and other insurers are covering the testing and procedures.


That said, more work is needed to help precision medicine—especially in pediatrics—to fulfill its promise.


For starters, we need to improve in how we manage the mountains of data precision medicine creates. At Valley Children’s Hospital, we are obtaining genetic testing data in a digital format and pairing it with demographic data to generate a genetic disorder database that includes all genetic disorders within our catchment area. We hope to have this project completed at our facility by the end of the year and for others to follow.


Another area that we, as medical professionals, should be focusing on is education. It’s challenging for those of us who have experience to keep up with the advances, but it’s even more difficult for a sub-specialist without training to properly understand and interpret genetic testing. The solution? Let’s try and embed genetic counselors in leadership roles to handle the education for their specific department. It’s a straightforward way to save on lab testing costs.


Lastly, for us to fulfill the promise of precision medicine, we need to master and overcome the intricacies of technology. Let’s develop programs that help us secure data, along with best practice advisories that auto-populate in the electronic health record to help clinicians manage patients in utilizing genomic information.


I’m optimistic about where precision medicine is and where the discipline is headed. It’s not every day that something comes along that has the potential to cut the Gordian Knot of increasing patient complexity and spiraling healthcare costs. Precision medicine is just that, and we owe it our patients and our practices to keep moving it forward and fulfill its promise.


Jeremy Woods, M.D., is director of precision medicine at Valley Children’s Healthcare in Madera, Calif.



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