By Joel Diamond, MD, FAAFP, an Adjunct Associate Professor of Biomedical Informatics at the University of Pittsburgh. He is a diplomat of the American Board of Family Practice and a fellow in the American Academy of Family Physicians. He cares for patients at Handelsman Family Practice in Pittsburgh and serves as chief medical officer for 2bPrecise.
In its earliest days, genetic and genomic testing typically fell under the purview of select specialties such as oncology, rare diseases and maternal-fetal medicine, but no longer. Increasingly, and appropriately, precision medicine is likewise finding a home within primary care.
It makes sense. The primary care provider (PCP) typically is the first-line point of access for a wide variety of medical services. Advances in genetic and genomic science equip PCPs with insights to speed accurate diagnosis of complex presenting conditions, improve medication safety for treatment of common conditions, and identify treatments and care plans most likely to produce desired outcomes.
Consider the value precision medicine can deliver in these three areas alone:
Improved medication safety. Healthcare has become adept at managing drug allergies, but lags in other areas that likewise influence medication safety and efficacy. Genetic variations drive how well – or poorly – a patient metabolizes a specific drug. If an individual is a fast metabolizer of clopidogrel, for example, his or her body will process it too quickly.
The medication may not provide appropriate protection against clotting which, in turn, has life-threatening consequences. Pharmacogenomic (PGx) testing provides PCPs with the information they need to select the safest, most effective medications for each patient. PGx is particularly valuable for PCPs treating behavioral health issues such as anxiety or depression (typical “trial-and-error” approaches delay therapeutic benefit for months), pain management (where efficacy is critical to timely recovery, management of comorbidities like high blood pressure and addiction avoidance) and common cardiovascular conditions like hyperlipidemia.
Precision medicine involves formulating treatments for individualized patients, typically with genetic sequencing that could shed light on the underlying causes of disease. It’s an amazing idea that could substantially reduce the likelihood of the same treatment curing one person and failing to help another.
However, some things still hold precision medicine back. Here are six ways it could advance.
1. Lower Research and Development Costs
Statistics indicate precision medicine is gaining momentum. For example, 70% of cancer drugs in development are precision-based, and 20% of research and development in the pharmaceutical sector relates to precision medicine.
Those are promising signs, but cost remains a significant factor that slows down the advancement of precision medicine. The research and development associated with it is more expensive than standard approaches because it involves genetic testing. Companion testing is often required to find biomarkers, as well as marker-negative patients.
Securing financial backing can be tricky, especially if investors or the financial decision-makers at pharmaceutical companies are still dubious about precision medicine’s potential.
2. More Patient Education
Many patients have heard about precision medicine in passing, but they don’t know what it entails or how to avail of it. Intermountain Healthcare, a Utah-based health system with nearly two dozen locations, found that a lack of patient education restricted its adoption of precision medicine. The organization began automatically referring metastatic cancer patients to a research clinic that used precision medicine.
There, patients had access to a proprietary system that checked for more than 160 genetic mutations associated with cancer by examining portions of a person’s genetic code. Then, people from a molecular tumor board interpreted the results, guiding doctors in setting up treatment plans for their patients.
Technology has evolved, and it has positively affected all areas of our lives. When it comes to technological advances and innovations in medical technology, it can be said that life has been made easier for us.
With new medical technology, we are assured of longer life span with credits to various medical innovations in medical technology. It would interest you to know that technological advances are basically medical innovations in medical practices which are aimed at giving life a better meaning.
Hence, the basic aim of these evolving technologies in the field of medicine is basically an increase in the lifespan and ensuring our overall state of health is improved.
Below are the most recent technological advances used in medicine:
CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats, and it is a new medical technology, which is at the highest level of advancement when it comes to gene-editing technology. CRISPR functions by tapping into the natural mechanisms that are found in the immune systems of bacterial cells, and it lacerates the DNA strands that have been infected.
The cutting ability of the CRISPR has the capacity to modify the conventional way of disease treatment. When some genes are modified, some diseases such as HIV and cancer could possibly be totally defeated in few years. Although, when you read most medical essays with an essay plagiarism checker, an essay check or an essay corrector, you will discover that there are still further inquiries into the full capacities of the CRISPR and the unknown benefits to the human race.
This is another new medical technology which fits into this technologically guided world. It basically means a form of promptly evolving technology which enables patients to access medical care via their medical devices, rather than go to the hospital for appointments with their doctor.
Currently, there are some highly-functional personalized applications that are developed for the purpose of allowing patients to interact virtually with medical professionals and get prompt medical advice and diagnosis.
Telehealth makes full provision for all patients to have various access means to healthcare the moment it is needed. It also comes in handy for those who have chronic health problems because it makes health care available at a regular, convenient and affordable means.
3. Virtual reality
Virtual reality has been in existence for quite a while, and there are medical advances that are being integrated into exploring the full capacities of this modern technology. With virtual reality, medical students have been afforded the opportunity of accessing close to real-life experience using this technology.
There are top modernized tools which aid them in gaining the experience needed by memorizing and practicing procedures as well as and producing a visual knowledge of the entire connection of the human anatomy.
If you check legit medical essays with an essay corrector or an essay checker, you will discover that virtual reality devices are a profound help for patients, providing diagnosis help, treatment schedule and making procedures available for them. They are also essential in patients’ rehabilitation recuperation.
Medical technology is advancing, and it becomes more personalized to patients individually. One of the benefits which precision medicine comes with is, it enables physicians to choose therapies and medicines for disease treatment, which includes cancer hinged on the genetic make-up of the patient.
This form of personalized medicine is way more effective than other forms of treatment, as it effectively treats tumors using the specific proteins and genes of the patient as the basis. This then causes gene mutations and makes it more effortlessly annihilated by cancer medicine.
In addition, precision medicine can also be used for rheumatoid arthritis treatment. It employs a mechanism of combating the vulnerable genes of the disease, in a bid to weaken it and lessen the symptoms and damage to the joint.
Few healthcare leaders doubt that insights made available
through precision medicine and genomics have the potential to vastly improve
care and outcomes.
But the industry struggles to overcome numerous barriers
that, at first glance, seem to obstruct providers’ ability to fully leverage precision
medicine. There is no question that obstacles exist, but a well-considered
strategy can help providers move quickly down a forward path.
Let us consider the six primary obstacles to leveraging precision
medicine to its fullest:
Provider education and expertise. Precision medicine, as an
influencer at the point of care, is a nascent discipline. Few physicians
practicing today were thoroughly educated in genomics (the depth of training is
increasing, however, according to a 2017 article in the Association
of American Medical Colleges News).
Physicians find themselves in a position of educating themselves quickly,
especially as the FDA approves more targeted immunotherapies and treatments. In
addition, because of the rise of direct-to-consumer tests, patients themselves
are demanding doctors factor this information into their clinical decision
Slow-to-change standards of care. Without a doubt, delivery of
healthcare must be evidence-based. Genomic science has introduced so many
advances in such a short period of time, however, that many physicians remain
bound by approaches rapidly becoming outdated. The industry must find ways to
deliver new findings into the clinical workflow reliably and quickly, so
providers can utilize the best approach in each patient encounter.
Limited time to process new data. Physicians are already
presented with more data than they can effectively manage. Genomics represents
an entirely new and voluminous data set. To deliver any value, this information
must be rendered useful and readily available within the EHR. Access must be
smooth and seamless so physicians are not forced to leave their workflow to hunt
for relevant insights.
Foreign nomenclature. Currently, genomic results are returned
in PDFs (not as discrete data), rendered in vocabulary common to genomic
researchers and scientists. It must be “translated” into meaningful clinical
nomenclature and then integrated into the current workflow to be fully useable.
Regulatory and liability concerns. Genomic results do not
represent a snapshot in time the way phenotypical information might. A
patient’s genetic variant could impact care decisions well into the future as
the individual’s condition changes and genomic science advances. How does a
provider store and manage genomic data, making sure that its very existence
does not create liability issues in the years ahead?
Lack of or sluggish reimbursement. Payer policies and
guidelines lag behind discoveries related to precision medicine. What
reimbursement exists varies greatly from payer to payer and is founded on
disparate understandings of medical necessity. While payment is becoming more
common, physicians nevertheless must consider the financial impact of ordering
a genomic test – and what they will do if the results indicate that an
expensive or uncommon treatment is the best choice for a particular patient.
Innovation and Strategy
Key to Success
While these issues are complex, they are not insurmountable.
Savvy healthcare leaders are establishing precision medicine strategies today
in recognition that the landscape will become only more complicated.
Visionaries and early adopters are implementing scalable
informatics infrastructure as the backbone of their precision medicine
initiatives. Many of the obstacles above can be addressed by an
enterprise-spanning platform that:
Synthesizes genomic data with clinical
information into an ontology that creates a comprehensive view of the patient.
This compendium can then be delivered through the EHR, presented in a
meaningful vocabulary, where it can be actively used in real-time clinical
decision making. In addition, providers are able to reference evidence for
their decisions, which could help support medical necessity appeals and
short-circuit prior authorization processes.
Delivers fingertip access to multiple curated
knowledge bases. Physicians can re-interrogate a patient’s genomic data against
the latest scientific findings to ensure current standards are followed – now
and far into the future. This also gives physicians access to resources so they
can keep abreast of this rapidly changing field and helps shield them from
Enables broad usage of precision medicine tools.
The value of genomic insights is curtailed when data is siloed in a specialty-
or department-specific system. Making functionality available across clinical
areas gives all providers access to data that might impact care and outcomes.
The future of healthcare has been made more exciting because
of precision medicine and genomics. With a well-considered strategy, healthcare
leaders can begin to leverage value today and prepare themselves to be
successful for years to come.
Few healthcare leaders doubt that insights made available through precision medicine and genomics have the potential to vastly improve care and outcomes.
But the industry struggles to overcome numerous barriers that, at first glance, seem to obstruct providers’ ability to fully leverage precision medicine. There is no question that obstacles exist, but a well-considered strategy can help providers move quickly down a forward path.
Let us consider the six primary obstacles to leveraging precision medicine to its fullest:
Provider education and expertise. Precision medicine, as an influencer at the point of care, is a nascent discipline. Few physicians practicing today were thoroughly educated in genomics (the depth of training is increasing, however, according to a 2017 article in the Association of American Medical Colleges News). Physicians find themselves in a position of educating themselves quickly, especially as the FDA approves more targeted immunotherapies and treatments. In addition, because of the rise of direct-to-consumer tests, patients themselves are demanding doctors factor this information into their clinical decision making.
Slow-to-change standards of care. Without a doubt, delivery of healthcare must be evidence-based. Genomic science has introduced so many advances in such a short period of time, however, that many physicians remain bound by approaches rapidly becoming outdated. The industry must find ways to deliver new findings into the clinical workflow reliably and quickly, so providers can utilize the best approach in each patient encounter.
Limited time to process new data. Physicians are already presented with more data than they can effectively manage. Genomics represents an entirely new and voluminous data set. To deliver any value, this information must be rendered useful and readily available within the EHR. Access must be smooth and seamless so physicians are not forced to leave their workflow to hunt for relevant insights.
Foreign nomenclature. Currently, genomic results are returned in PDFs (not as discrete data), rendered in vocabulary common to genomic researchers and scientists. It must be “translated” into meaningful clinical nomenclature and then integrated into the current workflow to be fully useable.
Regulatory and liability concerns. Genomic results do not represent a snapshot in time the way phenotypical information might. A patient’s genetic variant could impact care decisions well into the future as the individual’s condition changes and genomic science advances. How does a provider store and manage genomic data, making sure that its very existence does not create liability issues in the years ahead?
Lack of or sluggish reimbursement. Payer policies and guidelines lag behind discoveries related to precision medicine. What reimbursement exists varies greatly from payer to payer and is founded on disparate understandings of medical necessity. While payment is becoming more common, physicians nevertheless must consider the financial impact of ordering a genomic test – and what they will do if the results indicate that an expensive or uncommon treatment is the best choice for a particular patient.
With hundreds of thousands of clinical trials currently underway worldwide, we are continuously seeing innovation applied to how we treat and cure diseases, but the traditional four-phase method of getting there has not been updated since 1963. What makes this antiquated process for pharmaceutical companies and long wait time for patients in need worth it is the promise of a safe and effective therapy for the vast majority of patients.
This promise, however, is negated before the clinical trial begins when pharmaceutical companies opt to perpetuate the creation of blockbuster treatments for the “average” patient that disregards individual patient disease biology.
The cost of ineffective treatment for both patients and the healthcare industry is high in many ways, and there is a clear need to change the process to bring more effective treatments to market. The current system was developed to provide blanket treatments for a particular disease without considering the disease biology of individuals. Moving forward, pharmaceutical companies first need to study the individual’s disease and then create a personalized treatment for patient subgroups within each therapeutic area.
Precision medicine technology holds the key to meet this need and could change the current clinical trial system that has been in place for years. Companies are working on technology such as this to enable more targeted trials that are smaller, nimbler, equally as effective and safe, and encourage the creation of personalized treatments to finally break the cycle of expensive, ineffective blanket treatments.
Enabling smaller, more effective and affordable trials
For years, patients and doctors have started to become exasperated with this traditional, slow-moving clinical trial model and are searching for a more personalized route as an alternative. Precision medicine offers the unique ability to deeply understand the genetic makeup of patients’ diseases, which in turn would enable the development of better drugs with clinical trials that consist of sample sizes based on genetic disease make-up rather than phenotypic expressions.
Backed by preliminary research into the patients being treated, these smaller and more targeted trials can hypothetically be conducted more rapidly and at lower costs, allowing for breakthrough therapies to come to market faster at potentially more affordable prices.
One of the sole national issues that the government can agree on is bringing down the astronomical costs of drug prices in the United States. The Senate Finance Committee and House Oversight Committee began to take on drug prices by holding two hearings this year on the issue with leading pharmaceutical companies, and a third planned for early April to examine pharmacy benefit managers’ role in the issue after they were called out as major contributors in previous hearings.
During the February meeting, the biggest players in the industry testified before the committee and it became clear that big pharma and the government are having trouble coming to a solution.
There has been much discussion around this critical issue of drug pricing in America but now a few innovators are shifting the conversation to how precision medicine provides hope for a possible solution. Therapeutics come with the risk of not working effectively for some patients and causing adverse side effects. However, applying precision medicine stratifies patients based on their disease biology and matches that patient group to the drugs that target their specific disease.
The drug prescribed will be more likely to effectively work and the cost of treating the patient group will decrease. While the House Committee on Oversight and Reform’s investigation can eventually lead to legislation to mitigate price hikes, precision medicine technology currently exists to be a key driver in deflating drug spending for patients and payers and, thus, reducing drug prices. Two ways this type of technology can help to lower drug costs are: cutting spending on ineffective treatments and motivating the industry to develop and market personalized treatments.
This means that patients who see little or no benefit from these treatments are still paying up to $38,000 annually, proving to be a significant financial and emotional burden to patients and their loved ones. As medicine advances, it is becoming more apparent that giving these drugs to everyone diagnosed with the respective diseases no longer works, they need to be prescribed to sub-groups of patients based on their specific disease biology to truly be effective.
Through RNA data analysis, precision medicine can both help patients with autoimmune diseases like RA find targeted treatments that they are more likely to respond to before treatment is prescribed and direct pharmaceutical companies to develop targeted drugs specifically for those who do not respond to currently available therapies.
Artificial intelligence is a topic that should interest us all, as it changes the world with every second. And the healthcare system is one of the areas that AI has already started to revolutionize. These are the main ways in which that is happening.
Due to the introduction of personalized diagnosis and precision medicine, now doctors can treat a patient’s condition, by taking into account his/her background, as opposed to merely treating the disease. This is accomplished by using proteomics, which is a type of DNA mapping, as well as advanced AI machine learning.
Killing Occam’s Razor
Occam’s Razor is also known as the Law of Parsimony, and it refers to providing a range of solutions to a given problem. Also, according to this principle, the simplest solution is, most of the time, the correct one. Considering that both machine learning and AI doesn’t have the human assumption element, their capacity of reading and analyzing amounts of data can significantly increase the accuracy of the diagnosis.
Accordingly, this can be really helpful in diagnosing elderly patients, in particular, as they are more likely to suffer from various diseases at the same time.
Google Can Spot Eye Disease
DeepMind is a Google-owned AI company that has come up with a way of diagnosing eye disease. After assessing and attentively analyzing the medical records of a significant number of patients, it has created machine learning technology that should help doctors diagnose eye illness earlier. This merely outlines that, even though AI is innovating almost every field, it still relies on human help.
Automated Cancer Treatment
It appears that AI can also play an important role in treating cancer, which affects more and more people. Accordingly, the CareEdit tool can be utilized by oncologists for crating practice guidelines. To be more specific, the tool analyzes considerable amounts of data such as past treatment regimens, aiming at comprising a clinical decision support system that should help physicians treat each patient. This can significantly enhance the rate of survival, while cutting down the costs associated with the treatments.
Virtual Health Assistant
Interestingly enough, at the time being, there are apps that carry the roles of personal health coaches. This functions the same way as a customer service representative at a call center. What is more, the digital assistant can do as much as take notes, ask questions, even provide specific advice while streaming the information to the healthcare provider. This has the role of simplifying the process.
By Joel Diamond, MD, FAAFP, chief medical officer, 2bPrecise.
Patients are becoming more engaged in (and financially responsible for) their own care. As such, they are increasingly interested in information about their health risks and which courses of treatment have the best potential for success. In my practice, I have seen a sharp rise in the number of patients asking about genetic and genomic tests.
Healthcare consumers are drawn to the idea that this information can unlock answers to persistent health problems, or reveal risk for future issues. They want genetic information to lay out a clear path forward for prevention and treatment, perhaps indicating which medications will be most effective for their profile. It’s one of the reasons why direct-to-consumer genetic testing, such as 23andMe, has become so popular.
The precision medicine learning curve
Soon we will move from individual gene tests and panels to exome and full genome testing, some of which is happening today. As the concept of applying genomics and precision medicine gains momentum, physicians are enthusiastic about the potential of personalized care plans to improve patient outcomes.
But are physicians equipped with the right tools to put precision medicine into practice? For example, can we identify which patients might benefit from genetic testing? Do we know what test to order? How do we interpret results? How do we incorporate this information into the patient record? And of course, cost is always an issue: Who pays for these tests?
These are some of the many questions physicians are wrestling with today. If they have a clinical-genomic solution within the electronic health record (EHR) workflow, they can get some of the support they need to meet rising demand for personalized medicine and care plans.
3 trends to watch as consumers drive precision medicine into the mainstream
Consumer interest shows no signs of slowing, which will continue to bring new challenges and opportunities into the physician’s office. Trends include:
Search for genetic destiny.I’m seeing more patients who believe precision medicine will resolve every health issue, especially when diagnosis or treatment is difficult. There is ample reason to hope, but it is up to the physician to educate consumers and set realistic expectations. There are multiple factors that have a bigger impact on health than genetics. Patients are concerned about familial inheritance for diseases, when environment and lifestyle often have a greater influence.
Prescriptive patients. We’re going to see more consumers demand specific courses of treatment, based on the genetic or genomic information they have. For example, someone who finds out she is at risk for cardiovascular disease may request a stress test. Physicians will need new kinds of educational support to assess and stratify risk. They will need to be well informed about which tests will bring the most benefit, so they can educate their patients, too.
Data outpacing science. Genomic knowledge is growing at an exponential rate, at times generating more questions than answers for researchers and physicians. We recognize many variants in DNA codes, but don’t yet know what they all mean. We still have much to learn about the data we are generating. Cloud-based repositories of genomic data, with continual updates and notifications for providers and patients, will be essential.