By Nephi Walton, MD, MS, FACMG, FAMIA

Nephi Walton
Nephi Walton

If you build it, they might come, but will they pay for it?  

This question has recently caused a disruption in my career path, driven by the challenges posed by the possibility of a looming recession, and financially stressed healthcare systems. These conditions have led to layoffs in areas that were not directly generating a profit, including genomics and precision medicine. While I could complain and criticize this as a short-sighted decision, I have come to realize that the larger issue at hand is the lack of a sustainable payment model for these innovative medical technologies.

It’s not just my former healthcare system that has faced constraints and had to cut short its precision medicine plans; I have seen other precision medicine efforts falling like dominos in the face of financial challenges. It is essential that we shift our perspective on precision medicine and recognize it as something that adds substantial value to patient care, rather than merely expecting it to save money.

Clinical genetics programs across the country often operate at substantial losses. These programs are primarily staffed by altruistic individuals who are driven by scientific curiosity and a desire to help those on the fringes of medicine. However, this focus on altruism may have resulted in some neglect of the financial aspects of the profession. While the demand for clinical geneticists remains high, bringing one on board often leads to increased financial burden and debt. Even sequencing laboratories are facing significant financial challenges, and nearly all of them have had significant layoffs this year.

Despite healthcare systems marketing themselves as patient-centric, I can assure you that financial considerations often outweigh patient care behind closed doors, with only a few exceptions. While the altruistic clinical genetics side of me struggles with this, my business background makes this at least somewhat understandable, as large organizations must maintain financial viability to remain in operation. This reality highlights the urgent need to address the financial challenges associated with precision medicine.

I have fought passionately for precision medicine as a cost­saving measure, but I have come to accept the hard truth that sequencing actually incurs higher costs in the short term. The potential savings that can be achieved are often far down the road and usually exceed the patient churn for payers. For instance, discovering that someone has a BRCA1 variant necessitates immediate visits and expensive tests such as breast MRIs, costly preventative treatments like tamoxifen, or even expensive surgeries such as a mastectomy. While these interventions aim to prevent cancer in the long term, the reality is that the patient is likely to switch to a different insurance plan before their insurer realizes any benefit. Such financial benefits are more likely to be realized by a national health system. I am not necessarily advocating for such a system in the U.S., as I have yet to see a government-run program that is a bastion of efficiency.

The U.S. Preventive Services Task Force (USPSTF) guidelines play a significant role in determining what health plans cover in terms of preventative genetic testing. Unfortunately, these guidelines are slow to develop, hindering progress. At the current rate, we would be fortunate to have all the current American College of Medical Genetics and Genomics (ACMG) reportable genes covered by the year 2300, let alone the countless other actionable genes yet to be discovered or the therapies that do not yet exist. The focus should be on the preventative value of sequencing as a whole rather than a gene-by-gene approach, especially since the cost of sequencing is now so low and the interpretation is also getting cheaper as our knowledge increases.

There is certainly a demand for precision medicine on the patient side. When I opened my genome sequencing clinic, I saw many adult patients who had not been able to receive care elsewhere. Many were willing to pay out of pocket for sequencing out of desperation, and it was common for them to have traversed the country seeking answers. If health systems don’t meet this demand, other players will fill the void, and perhaps not in the best way—or at least not in a way to allows the information to be utilized in the patients’ overall care.

Genome sequencing is becoming increasingly affordable at the same time that the power of artificial intelligence (AI) is growing exponentially. The convergence of these technologies holds immense potential for improving human health. As I have a background in both of these domains, I salivate at the thought of what is possible. However, the hurdles to practicing precision medicine go beyond any technological implications; we need to acknowledge the absence of a sustainable payment model, the financial strains on healthcare systems, and the slow development of guidelines. By prioritizing financial viability and regulatory reform, we can unlock the full potential of precision medicine and ensure its benefits reach patients in a timely and effective manner.

This background and excitement has led to one of my next steps in life, building a technology platform to deploy genomics and AI in clinical care. Ironically, in my first meeting with a potential investor, the first question was, “what is the reimbursement model for this?” Let’s just say I am still working on that part…


Nephi Walton MD, MS, FACMG, FAMIA completed his MD and MS in biomedical informatics with a focus on machine learning/artificial intelligence at the University of Utah School of Medicine. He completed a combined residency in pediatrics and genetics at Washington University in St Louis, Missouri. He is board certified in both clinical genetics and clinical informatics. He has worked with two of the largest population health sequencing programs in the U.S.: MyCode at Geisinger and HerediGene at Intermountain Health. He currently serves as the associate medical director of Intermountain Precision Genomics where he co-leads the HerediGene genomic sequencing return of results program and runs the Intermountain Precision Genomics Whole Genome Sequencing clinic. He also serves as the associate medical director of Intermountain’s sequencing laboratory. He was past chair of the American Medical Informatics Association Genomics and Translational Bioinformatics Workgroup and has presented at several meetings on translating the use of genomics into general medical practice, something he is actively pursuing at Intermountain Health.

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