With the increasing availability of targeted therapies and new forms of patient data, medicine is no longer “one-size-fits-all.” Today, healthcare providers are shifting to providing more personalized treatment regimens. By using a patient’s genetic information to predict medication response and promote safe and effective prescribing, pharmacogenomics (PGx) has the potential to play a critical role in this movement.
Standard doses of a drug could be toxic to a person who carries a gene variant that causes them to metabolize that drug at a slower than normal rate, for example. Armed with PGx data, a provider can prescribe a lower dose of the drug to reduce the patient’s risk of severe, unwanted side effects, or select an alternative option. Of equal importance, genetic testing can reveal important information about the presence or absence of key drug targets, helping prescribers choose treatments that are more likely to work.
While the potential for PGx to transform care and improve outcomes is exciting, many challenges remain in making that promise a reality. During a recent Dark Daily webinar, Jeremy Stuart, PhD, MPH, chief science officer and laboratory director at Precision Genetics, shared the company’s journey into the space of clinical PGx, including how increased demand for COVID-19 testing helped move key areas of their PGx work forward.
Addressing challenges of applying PGx in the clinic
Early PGx studies identified relationships between genes and certain drugs. However, the complexity behind figuring out how to best, and most consistently, apply that knowledge to prescribing decisions quickly became clear. The Clinical Pharmacogenetics Implementation Consortium (CPIC) was formed to overcome this hurdle and has remained an important source of truth in creating and curating accessible, reputable PGx evidence and guidelines [1].
There are now 106 published CPIC recommendations, with many more in the works. The degree to which these guidelines are used in practice, however, remains limited due to multiple factors, including the availability of validated PGx assays, inconsistent coverage of testing, IT limitations, and a lack of provider training in this realm.
How Precision Genetics successfully brought PGx into practice
The team at Precision Genetics saw an opportunity to address this spectrum of challenges by developing a comprehensive medication therapy management and prescription cost optimization program that included PGx testing for high-risk individuals. PGx results and associated recommendations were delivered electronically to patient charts so clinicians could consult this information when making prescribing decisions.
While Precision Genetics uncovered a range of benefits to using PGx data, one area where the value of PGx data was especially apparent: the management of nausea and vomiting in patients who are post-surgery. Since there are specific genetic variants associated with reduced efficacy of certain anti-nausea drugs, applying PGx data and treatment recommendations to this population can result in improved control of this common issue. While having this information provides obvious benefit to patients, it also enables hospitals to improve post anesthesia care unit (PACU) patient flow, perform more surgeries, and achieve greater patient care and satisfaction.
As part of their PGx program, Precision Genetics also offers targeted testing for genes directly associated with the safety and efficacy of common mental health drugs. With mental health impacts from the COVID-19 pandemic remaining an issue of concern [2], Dr. Stuart highlighted a possible increase in demand for PGx testing focused on mental health drugs along with the opportunity for improved patient care in this treatment area during the pandemic, and beyond.
What changes are needed to make PGx standard of care?
PGx testing is often offered as part of targeted efforts, like the Precision Genetics program, or through specialty clinics at large academic medical institutions with dedicated funding and staff [3]. For more widespread application of clinical PGx into practice, the medical community needs to address many standing hurdles.
Labs offering PGx testing often provide results in the form of a PDF. As Dr. Stuart noted during his webinar, a major development for Precision Genetics came from COVID-19 tests driving the need for electronic test ordering and delivery of results directly to a patient’s chart. When translated to the PGx space, this functionality will ensure results are accessible and put to use while also reducing manual administration time and the risk of error. Equally important to getting results into the chart, widespread incorporation of PGx into practice will require providing clinicians with relevant recommendations at the time of prescribing.
With greater access to PGx tests and results will come increased adoption and application of PGx data, which will, in turn, help highlight its value and encourage payers to cover testing more-readily. Reliable assays are needed to ensure PGx testing is not only readily available, but accurate. As genetic analysis becomes a bigger area of focus across many areas of medicine, tools such as Thermo Fisher Scientific’s real-time PCR solutions for pharmacogenomics helping researchers discover new PGx markers associated with certain diseases to help improve patient treatment and outcomes in the future.
PGx can potentially protect patients from harmful medication side effects, limit disease progression due to ineffective treatment, and aid in designing regimens for optimized outcomes. PGx data also has the potential to lower overall healthcare costs by reducing the incidence of adverse events and preventing payment toward drugs that won’t work. With a continued and collaborative focus on overcoming the logistical and technological challenges holding PGx back from more widespread application, the medical community will be one step closer to realizing the promise of precision medicine.
To learn more about the work done by Precision Genetics to bring pharmacogenomics data into clinical practice and hear thoughts on future PGx regulatory and reimbursement considerations, watch the Dark Daily webinar on demand.
For information on Thermo Fisher Scientific’s range of pharmacogenomics solutions, please visit our PGx Solutions webpage.
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