The “Precision” Of Medicine Today: Hype or Reality?

Not a single day goes by without hearing news and grand collaborations touting the benefits of precision medicine and how it is the panacea for everything from cancer care, chronic disease management to general health and wellness. If you are part of the healthcare industry, either as a medical professional or a service provider or a technologist, it has almost become ‘sine qua non’ to be involved with precision medicine. With so much hype, promise and potential, it is extremely difficult to differentiate the hype from the reality and there are many questions that beg to be asked. Are patients able to walk into their primary practitioner or family physician today and expect medicine that is precisely geared for them? With increasing number of FDA approvals for precision medicine drugs, are these accessible to everyone and more importantly affordable? Or, is precision medicine confined to the wealthy and privileged who can tap into operating rooms, halls and clinics of specialized centers, research labs and elite hospitals that are experimenting with these novel therapies?

Precision Medicine is defined as “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyle” [1]. Thus, genetic testing, along with other traditional biomarkers such as blood and urine panels, become valuable tools in identifying the specific phenotypes of the patient. Additionally, emerging research and development in the secondary genome may provide additional specificity to every patient, but challenges remain in its broader adoption given the difficulty in establishing a credible baseline [like what the Human Genome project achieved for the primary genome] and reliable methods for identifying variant expressions.

Now, let us look at just a small set of statistics and industry data about precision medicine that are glaring enough to give you an episodic case of strabismus: Current direct-to-consumer (DTC) genetic testing based on single nucleotide polymorphisms (SNPs) generate 40% false positives and misleading information [2]. Only 19% of patients share their DTC genetic testing results with their physicians [3]. As of 2019, only a small number of primary care physicians (4%) use precision medicine or have the required training and education. A slightly higher, but still low number (8%) of physicians utilize genetic testing as part of patient care [4]. It is encouraging that 32% of physicians feel that precision medicine may be of value, but are unprepared [5]. 0.075% in the ages of 18-44 and 0.102% in the ages of 45-64 of health needs required hospitalization, rest are treated by preventative and non-acute care [6]. Main specialties holding highest potential for precision medicine are oncology, neurology, rare diseases, psychiatry, tissue engineering and regenerative medicine [7].

It doesn’t require a Sherlock Holmes with his amazing deductive powers to discern the messages emanating from these microcosms of precision medicine activity in the market. While genomics is an important feeder to precision medicine, the current plethora of DTC genetic testing based on SNPs doles out medically useless information due to high incidence of false positives and misleading/incomplete data. Most DTC genetic testing that are currently being advertised on televisions and on the internet are useless unless the reason for using it is a desperate attempt at genealogy to take pride in being related to Brad Pitt or George Washington. On top, most physicians are wary or unaware of diagnostic methods such as whole genome sequencing (WGS), targeted molecular therapies and secondary microbiome panels for precision medicine. Access to leading precision medicine initiatives by health systems such as one’s started by Geisinger Health and Providence St. Joseph still require some level of hospitalization [read additional costs] and/or visit to their specialized health centers. Given that majority of preventative and wellness care is not in such hospital setting, not many options exist. However, not all is pale and gloom… it should be noted that medical technology companies are pioneering with next generation sequencing to provide whole genome sequencing (WGS) for patients at a consumer level, which is a welcome development. Results from these WGS tests should provide more reliable data on genetic variants and specific pharmacogenomic attributions of the patient, which can become a valuable tool for physicians and innovative care providers to analyze risk factors for clinically actionable diseases and carrier conditions.

Medicine has gone through a transformation from classical prevention theories to embracing the 4 Ps of preventative, predictive, participatory and precision. Each of these factors enable patient care to be more geared to each individual as follows: 1)  preventative – avoidance of illness and conditions, 2) predictive – use of ‘omics’ for predicting and targeting diseases prior to occurrence, 3) participatory – use of digital and information dissemination to encourage better participation from patients in their medical care, and 4) precision – use of genetics and other phenotypes to tailor therapies to each patient [7]. In the April 2019 editorial issue at Columbia University Irving Medical Center, Lee Goldstein MD, Dean of Faculties of Health Sciences and Medicine and Jill Goldman, MS, MPhil from Taub Institute for Research on Alzheimer’s disease quoted “Medicine has evolved from ‘in my experience’ to ‘evidenced-based’ to ‘precision medicine’”.

There are no doubts that precision medicine is the way forward but there are several impediments to its successful and wide spread adoption in mainstream medicine. With so many stakeholders driving activity, it will take continuing acceleration on the Moore’s laws’ functional curve to make it a reality for patients in the next 1-2 years. Unless patients are at a specialized center or health system that has launched an initiative in precision medicine, you are out of luck. Just imagine having to go the local family/internal medicine physician and expect precision medicine…especially if the physician or care provider has twenty other patients in the waiting room, which would perhaps prompt a grimacing look with “so, you want precision medicine for your hypercholesterolemia, come again?”. Exceptions and trail blazers do exist in every field and it applies here as well… an emerging band of well-intentioned and aspiring group of specialists in oncology, neurology and autoimmune disorders are experimenting with precision medicine through targeted genetic testing leveraging artificial intelligence (AI) and big data to ascertain the incidence and progression of serious health conditions. Precision-targeted drugs for conditions such as chronic myeloid leukemia, post-traumatic stress disorders, cystic fibrosis and other autosomal recessive conditions herald a bright ray of hope for similar case studies in other branches of medicine. There have also been a select few initiatives where precision medicine is being attempted to be brought into preventative and general health through genomic-based concierge medicine, which shows promising potential to burgeon as consumers get more educated and aware of its benefits vis-à-vis cost for those services.

Each and every stakeholder segment across physicians, diagnostic companies, technology collaborations, research institutions, life sciences organizations, health systems, payers, medical schools and patients will need to continue making concerted efforts for precision medicine to become a reality in the very near future. Physicians need to be more prepared to incorporate precision medicine in their patient encounters through advanced training and continuing medical education (CME). Diagnostic companies need to scale up and provide reliable testing methods through which a rich base of patient phenotypes can be established by WGS and other techniques that drive precision medicine. Technology collaborations should go less on the marketing hype of digital, big data and AI and take a more practical based approach that is vetted in reality by working through business scenarios that put patients at the center of precision medicine care and developing methods that enhance its accessibility. While the prospects of broader application of big data, artificial intelligence and predictive analytics has existed for over few years now, standard ontologies that permit seamless data integration and big data/AI platforms that are deployable across medicinal domains are still at nascent stages. Research institutions need to continue exploring means to enrich patient phenotypes and help align best-fit medical interventions for specific disease and carrier conditions. Life Sciences organizations need to develop R&D models that transform the treatment arms from broader population segments to targeted phenotypes and develop commercial models that make it more affordable for patients. For instance, some of the much-touted precision medicine drugs targeting specific DNA mutations for cancer cost over whopping $17,000 per month causing a more malignant and toxic dilemma for the patients. Do I save my life at the cost of bankruptcy or should I let my disease take its course to salvage my financial situation? Payers typically do not pay for these precision medicine drugs citing them as “experimental” shifting the burden to patients. Major health systems that can make a broad-based impact in its demographic base need to follow the example of some of their peers that are pioneering precision medicine as part of care regimen to enhance patient outcomes and reduce cost of care. Payers need to take a more humanistic and ethical approach by expanding reimbursement for newer diagnostic methods and precision medicine drugs while providing more freedom to physicians to determine best precision medicine interventions for their patients. Medical schools ushering the next generation of trained physicians will need to align their curriculum and training to ensure that they are well equipped with the care protocols and knowledge to make rightful precision medicine decisions. Finally, patients need to ask the right questions to understand the difference between what is still a hype and what is reality. Savvy marketers promising deep insights into health through flimsy DTC genetic testing kits are unfortunately a novelty fueling the hype. While news reports and technology collaborations in precision medicine sound sexy and promising, they are again more of the hype for most people as the reality of impact at the much-needed inflection point of medical care for preventative, general health and many diseases conditions is yet to be realized.     

There is no doubt that precision medicine will one day change how care is delivered to patients. And its benefits are invaluable especially when all traditional therapies have proven useless. However, for the general masses, its hype overcomes the reality. High R&D expenses, limited access, lack of training and prohibitive cost burden to patients present serious ethical, commercial and operational challenges to its adoption.  So, the next time you think of precision medicine and get excited the same way as when your favorite NFL team scores its winning touchdown, just remember that damned instance when the referee on the field had called for an offensive foul just few moments prior. The situation with precision medicine is not much different… so before the hype lets our emotions take over, let us get back to reality. While it is promising and has life-changing applicability in a small set of scenarios, the current situation warrants that everyone involved with precision do their part despite commercial and personal interests and work towards ushering the next model of personalized patient care, a.k.a., Precision Medicine.

Yes, precisely!

1.      What is Precision Medicine. https://ghr.nlm.nih.gov/primer/precisionmedicine/definition. Genetics Home Reference, National Institute of Health. September 2019.

2.      False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genetics in Medicine volume 20, pages1515–1521 (2018)

3.      Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing. https://www.ncbi.nlm.nih.gov/pubmed/?term=Annals+of+Internal+Medicine+(2016%3B164%5B8%5D%3A513-22)

4.      Views Of Primary Care Providers On Testing Patients For Genetic Risks For Common Chronic Diseases. https://www.healthaffairs.org/doi/full/10.1377/hlthaff.2017.1548

5.      Precision Medicine in Internal Medicine. https://annals.org/aim/article-abstract/2732074/precision-medicine-internal-medicine. Apr 2019

6.      Trends in Hospital Inpatient Stays in the United States, 2005-2014. https://www.hcup-us.ahrq.gov/reports/statbriefs/sb225-Inpatient-US-Stays-Trends.jsp

7.      Precision Medicine: Changing the way we think about healthcare. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251254/. Nov 2018