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

Jeremy Woods, MDis the director of precision medicine at Valley Children’s Hospital in Madera, California. Discusses the growing importance of precision medicine, especially in pediatrics, and highlights its potential to revolutionize healthcare. Dr. Woods played a pivotal role in a successful project called “Baby Bear Project” which demonstrated the effectiveness of rapid genome sequencing in the diagnosis and treatment of infants 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 now cover genome sequencing.

Medicine often treats patients using evidence derived from studies of large groups of people. These studies are valuable, but may ignore a patient’s individual biology. However, with the advent of next-generation genomic sequencing, it is now possible to leverage the approximately three billion pieces of data in the human genome to gain insight into a patient’s individual biology. A change in the “one-size-fits-all” diagnosis and treatment paradigm is long overdue and is finally becoming a reality.

We now know that there are better ways to diagnose. It is called precision medicine or personalized medicine. And it is especially important in pediatrics, particularly in the treatment of rare diseases and pediatric cancer. Precision medicine is gaining ground in most hospitals, but more improvements are needed for the discipline to fulfill its promise.

The Journal of the American Medical Association (JAMA) took note, writing in 2019: “The era of precision medicine is a test of the healthcare system and the biomedical innovation system. Can we turn the revolution in knowledge of the human body into significant improvements in the health of the population at adequate 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 at relatively low costs and with relatively short turnaround times. The first human genome was mapped by the Human Genome Project between 1990 and 2003, at a cost of $2.7 billion. The costs of sequencing a patient’s genome in healthcare have now dropped to several thousand dollars. Turnaround times for genome sequencing have also been reduced to a matter of days to aid in the diagnosis and treatment of critically ill patients. Armed with this biology, at the individual level, we can also dramatically accelerate the development of targeted drugs to treat both rare and common disorders in our most valuable resource: our children.

Most children’s hospitals, especially those in big cities, are performing rapid genome sequencing. But it’s difficult to specify exactly how many, simply because medical professionals don’t always share their data. Because? They may feel overwhelmed. The pace of change and innovation is phenomenal and interpretation of the data (three billion data points per genome) takes time to interpret effectively. The United States also lacks a universal health system like the United Kingdom’s NHS, leading to the isolation of genetic data in the electronic medical records of each individual health system.

Still, I think the prospects for precision medicine appear to be bright. It simply makes too much sense for pediatric specialists and other medical professionals to overlook.

In fact, according to market research firm, the size of the global precision medicine market was $83.4 billion in 2022 and is projected to reach $254 billion in 2032, achieving an annual growth rate compound (CAGR) of 12.1% in the forecast period. (2023-2032).

According to the report, factors driving the growth of precision medicine include advances in cancer biologics, the development of new therapeutic techniques such as gene therapy to treat cancer patients receiving predictive diagnoses, key discoveries such as single nucleotide polymorphism (SNP) and microarrays/biochips, and general research on the human genome, which has the potential to transform healthcare for individual patients.

Of course, AI will also be a key driver of growth, thanks to its ability to help laboratories interpret large amounts of clinical genomic data more accurately and with fewer errors.

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

One of the defining moments in the rise of precision medicine was a joint effort between five California children’s hospitals (including Valley Children’s Hospital in Madera, California, where I practice) called “Project Baby Bear.” The project demonstrated how effective rapid genome sequencing is in obtaining a diagnosis for patients in pediatric or neonatal intensive care units, determining what the results were, and revealing the financial impact of the diagnosis on the health system.

It was a proven success. We tested 178 infants and families and provided diagnosis to 76 infants. Genome testing led to a change in the treatment/management of 55 infants that resulted in fewer hospitalizations and fewer procedures. Interim results were provided within three days, resulting in reduced healthcare costs and subsequent spending.

Before Project Baby Bear, healthcare providers did not reimburse hospitals for genome sequencing. Now, Medi-Cal in California (with 12 million enrollees) and other insurers cover the tests and procedures.

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

To start, we must improve how we manage the mountains of data that precision medicine creates. At Valley Children’s Hospital, we are obtaining genetic testing data in digital format and combining 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 in our facility by the end of the year and for others to follow.

Another area that we, as medical professionals, should focus on is education. It is challenging for those of us with experience to keep up with advances, but it is even more difficult for an untrained subspecialist to properly understand and interpret genetic testing. The solution? Let’s try to incorporate genetic counselors into leadership roles to manage the education of their specific department. It’s a simple way to save on lab testing costs.

Finally, to fulfill the promise of precision medicine, we must master and overcome the complexities of the technology. Let’s develop programs that help us protect data, along with best practice notices that automatically populate the electronic health record to help doctors manage patients in the use of genomic information.

I am 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 rising healthcare costs. Precision medicine is just that, and we owe it to our patients and our practices to continue moving forward and deliver on its promise.

Jeremy Woods, MD, is director of precision medicine at Valley Children’s Healthcare in Madera, California.

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