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Advancing Precision Medicine in Cardiology: Navigating Testing Challenges for Enhanced Patient Outcomes

6 Sept 2023

Today, cardiovascular diseases (CVDs) remain the number one killer globally, largely due to high disparities in treatment outcomes among various on-market therapies. While precision medicine testing strategies can improve CVD patient outcomes by directing more effective, tailored treatments, there are challenges to overcome in the clinical implementation of testing.

Revolutionizing cardiovascular disease diagnosis – current and future perspectives

The evolving discovery of disease specific biomarkers plays a central role in the development of precision medicine.

Currently, CVDs are risk-classified and diagnosed by clinical history, physical exams, and serum markers such as cardiac troponin T (cTnT) and N-terminal pro-brain natriuretic peptide (NT-proBNP). Emerging assessments, such as the PLAC test (Lp-PLA2 activity) and Axinon LDL-p test, can further aid in evaluating risk of CVDs, and in particular, coronary heart disease.

Advancements in omics-based (genomics, metabolomics, proteomics, transcriptomics, microbiomics etc.), AI-assisted diagnostic technologies are also starting to contribute to the early detection and risk prediction of CVDs. Notably, the CARDIO inCode-Score (CIC-Score), a genomic-based in vitro polygenic risk score (PRS) test from GenInCode, can identify patients at high genetic risk and direct precision treatment accordingly. Metabolomics-based metabolite profiling of acylcarnitines, fatty acids and branched chain amino acids (BCAAs) paired with troponin and lipid levels show promise in predicting events like myocardial infarction (MI) or death within CVD patients. Through AI-assisted computational algorithms, the most promising protein biomarkers, cTnT and NT-proBNP, have demonstrated higher sensitivity and specificity in stratifying patients and predicting outcomes such as systolic dysfunction, incident heart failure (HF), and CV death.

While promising diagnostic tests are being developed to help inform disease risk and guide treatment early, many challenges arise towards routine test clinical implementation.


Cardiovascular disease treatment and monitoring strategies - general vs targeted

After diagnosis, CVD patients are commonly prescribed with “one-size-fits-all” generalized treatment regimens. Among the emerging precision medicine treatments in cardiology, we see the antibody-based PCSK9 inhibitor (Sanofi Alirocumab), which is considered the first approved targeted therapeutic that can be categorized under precision medicine and is clinically proven to be more beneficial than the generalized statin treatment.

Precision medicine in cardiology aims to target CVD risk-linked genetic variants and design tailored therapies for sub-populations who may respond better to certain treatments, and to identifygenetic polymorphisms that affect treatment efficacy and can be used to direct the dosage of CVD medications. Beyond pharmacologic interventions, non-pharmacologic treatment approaches are also emerging in clinical trials. CRISPR, a targeted genome-editing technology that derived from the bacterial immune-defense system, has illustrated its therapeutic potential in addressing conditions like Cpf1 and MYBPC3related cardiac muscular dystrophy and hypertrophic cardiomyopathy (HCM) respectively.

As genetic factors play an increasingly central role in both pharmacological and non-pharmacological CVD treatments, we anticipate an increased demand towards genetic testing along the clinical implementation of precision medicine in cardiology.

Despite the importance of precision medicine in cardiology, plenty of challenges remain to successful clinical implementation. We believe addressing some key challenges can drive successful clinical implementation of upcoming cardiology-focused precision products.

Challenges in Clinical implementation of testing for precision medicine

1. Genetic testing accessibility: Our recently published paper, entitled “Impact of Clinical Practice Gaps on the Implementation of Personalized Medicine in Advanced Non–Small-Cell Lung Cancer”, has identified test accessibility as a substantial clinical practice gap leading to unidentified patients for precision oncology treatments. With increased clinical utilization of genetic sequencing, more genetic variants will be approved for the diagnosis and treatment of CVDs.

  • We predict that the current unequal accessibility to genetic testing seen in precision oncology will continue to be a major barrier during the clinical implementation of precision medicine in cardiology. This is primarily due to inconsistent and complex insurance coverage, limited genomic experience among healthcare providers, the shortage on genetic counselling services and the psychological and social impact on patients’ willingness to undergo genetic testing, among other factors.

2. Coordination across multiple stakeholders and testing platforms: Multiple testing platforms may be involved in precision cardiology, which require multi-way communication and coordination among test-requesting physicians and test-performing genetic and biochemistry labs. In comparison to conventional cardiology, it is currently unclear whether patients will be diagnosed and tested by the same clinician, or even within the same health system, and how patient care and stakeholder engagement will evolve to meet this paradigm shift.

  • We expect that suboptimal communications between genetic and biochemistry labs will further complicate the patient journey, causing treatment delays and suboptimal treatment regimens for CVD patients.

3. Education: As precision medicine in cardiology is still in its early stage, we recommend targeted awareness campaigns directed at critical stakeholders (cardiologists, lab directors, patients) around upcoming biomarkers and testing technologies for disease prevention, diagnosis and treatment.

  • Timely educational and scientific studies are needed to promote wide acceptance and trust towards these new evolving techniques across multiple stakeholders involved in the clinical implementation of precision medicine in cardiology.

4. Clinical trials: Clinical trials can be powerful tools to demonstrate clinical efficacy of biomarker-driven patient outcomes. However, clinical trial protocol around patient selection is a novel challenge in the cardiology space.

  • Proper clinical trial protocols involving a therapeutic-linked biomarker-directed patient selection approach need to be considered, with appropriate cohorts of relevant phenotypes to demonstrate statistically meaningful associations of new biomarkers or new targeted therapies.

Leveraging our in-house expertise in precision medicine and cardiology, bolstered by our real-world data insights from our DXRX Network, Diaceutics is well positioned to support your successful launch and implementation of emerging precision medicine in cardiology.

Contact our expert team to find out how we can help inform and accelerate your precision medicine strategies.
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Author: Ying Liu PhD, Director, Domain Expert, Scientific & Advisory Services