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It seems like everyone has a different way of explaining precision medicine. Rather than getting bogged down by differing definitions, I simply prefer to think about precision medicine as a way to tailor care to an individual.  

Precision medicine considers individual variability in the genes as well as the varied social and behavioral contexts of each patient, which can make for a more targeted care plan than some traditional methods of managing patients and conditions, such as ordering basic lab tests or recommending standard therapies that may not be the optimal course of action. In other words, precision medicine is a way for clinicians to more accurately diagnose diseases, discover new therapies and prescribe more effective treatment plans.  

It makes sense for physicians to tailor treatments to groups of patients with similar clinical attributes or symptoms. Precision medicine does exactly that by allowing physicians to consider the role of a patient’s genetic makeup in the presentation and management of the condition. With precision medicine, we can accommodate the specific needs of our patients and adjust treatment based on their unique genetic profiles.  

Today, as the health care industry has come to appreciate the effect of genetic profiles on the course of diseases, we are now recognizing precision medicine as a real opportunity for growth.  

The Human Genome Project: mapping our genetic makeup 

The basis for the genomic aspects of precision medicine began in 1990, when Congress funded the Human Genome Project (HGP) to the tune of $3 billion. The HGP was a collaborative research program that sought to determine the sequence of nucleotide base pairs that make up human DNA. The project was completed in 2003, and has been the foundation for thousands of gene and disease relationship discoveries.  

While sequencing the first genome was an incredible feat, the technical approach used by the HGP collaboration was too laborious and too expensive to be reproduced on a large scale. However, rapid advances in sequencing technology have led to sophisticated and automated mechanisms that today can map the most important regions of the human genome for less than $1,000 for the consumer. Since 2003, this increasing affordability has been one of the most significant developments in genomics and precision medicine, allowing scientists and clinicians to consider use cases in every corner of health care, from personalizing diets to growing replacement tissue. 

As with most increasingly automated industries, the mechanization of sequencing will continue to make genome mapping more affordable for future generations. This evolution has significant implications in how we will consider future growth within health care. Because affordability is less of a barrier, our knowledge base of the correlations between genotypes and patient disease expression (“phenotype”) is increasing exponentially. So too is our ability to use this information to make compelling discoveries in certain disease states, some of which are already happening. 

Present-day applications and barriers for precision medicine  

Today, we can see several viable applications to this growing field. For example, the treatment of breast cancer was one of the first places where precision medicine made a true impact. The recommended therapies used to fight breast cancer depend greatly on the patient’s genetic makeup. By examining the genomes of their patients, clinicians learned that individuals who have certain variations of the gene BRCA might have an above-average response to specific chemotherapy agents. The presence or absence of these BRCA variations can completely alter a patient’s outcome. This kind of knowledge has changed how clinicians prescribe treatment plans. 

At Boston Children’s, we are tailoring treatments for children in their most formative years. With our Clinical Pharmacogenomics Service (CPS), we have found that medications commonly prescribed by the CPS might be ineffective for specific genetic profiles. Instead of relying on a clinician to look into a child’s sequencing to undercover the best possible therapy for them, we have configured our EHR to fire off indicators that alert clinicians when there is a potential mismatch between a medication and the patient’s genetic profile.  

If we have access to a patient’s genetic profile, we can enter this information into the EHR to trigger insights. As an example, these insights might display to a clinician as: “Patients with aberration X are more susceptible to medication Y and respond poorly to therapy Z. Here is a link to the supporting research for further insights.” Some organizations already support these automated decision support alerts, and as more health care systems begin to incorporate them, the value we extract from our EHRs will increase. 

While advances in precision medicine have been promising, there are barriers to growth that need to be addressed before this trend can make sweeping changes in our industry. Increasing specialization among physicians creates a unique challenge, and most clinicians won’t be able to keep up with every new insight in precision medicine. Therefore, it’s critical that we have intuitive health IT solutions that can automatically read and unwrap the data we receive from these genomes. We need to continue arming ourselves with decision support tools, especially within our EHRs, that can deliver valuable insights to physicians and nurses.  

We should also consider our data storage infrastructure as we continue to map and digitize the human genome. Genomic data is different than traditional lab data, and so our EHRs will have to be enhanced to store and operationalize these new data types. The sheer amount of storage space needed to house even one genome worth of data is considerable, and our current health IT infrastructure has a way to go before we can support the sequencing of genomes on a large scale. There is a vast volume of knowledge to acquire, analyze and incorporate into decision support tools as we continue to make discoveries about who we are at a genetic level.  

The future of precision medicine 

 Precision medicine offers tremendous opportunity to change the way clinicians diagnose and treat patients. The changes won’t be quick or simple, but there is a definite path forward for the industry, and as a provider and a consumer of health care, I am excited to help push us in this direction.  

A year from now, I anticipate health care solutions that incorporate genomic information directly into the provider’s workflow. Five years into the future, I think we can expect to see integrated decision support for a much broader range of conditions, which will allow us to tailor therapies according to an individual’s underlying genetic makeup. We have already found evidence that this works, now we’re beginning to apply this avalanche of new information to patient data we’ve been collecting for years. A generation from now, we can only dream how effective this approach will be.  

Our knowledge of precision medicine is still limited. However, in the next decade, we have the potential to minimize negative side effects, to proactively target diseases before they arise and even to correct genetic defects. We’re at an inflection point in medicine today. In precision medicine, we are witnessing a medical renaissance that will change the way we care for our patients.  

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