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What is Genomic Data and How to Access It?

Publish Date
Read Time
April 4, 2024

Genomic data is the result of analyzing an individual's DNA sequence, encompassing information about identified genes, variants, and their specific locations within the genome.

Genomic variations play a critical role in numerous human diseases, spanning from common conditions like hypertension to complex disorders such as cancer and rare diseases. Precision therapies often aim to address specific genetic mutations underlying these diseases and driving their progression.

Real-World Applications of Genomic Data

Genomic data isn't enough alone; it needs real-world data like patient demographics data, EHR data, imaging data, and claims data. Combining genetic data with clinical data helps increase study accuracy.

The integration of genomic data with real-world data (RWD) is revolutionizing healthcare research and clinical practice. Here are the key applications of genomic data:

  • Identify Physicians with Eligible Patients: By connecting genomic data with claims and lab data, researchers can identify physicians who have patients eligible for specific drugs, enabling targeted interventions and optimizing treatment pathways.
  • Identify Undiagnosed Patients: Connecting real-world data enables the creation of cohorts of potentially undiagnosed patients, facilitating early intervention and improving diagnostic accuracy.
  • Analyze Treatment: By connecting specialty pharmacy data, researchers can perform cohort analysis to understand treatment effectiveness, identify trends, and optimize therapeutic approaches for complex conditions.

Privacy Considerations in Genomic Data Usage

Despite its immense potential, the utilization of genomic data raises significant privacy concerns due to its sensitive nature. Genomic data is difficult to anonymize as only a small collection of genomes is needed to identify an individual, making it extremely identifiable data.

Safeguarding patient privacy is paramount, and researchers must adhere to stringent data protection protocols. Measures to ensure privacy include:

  • De-Identification: Privacy experts should mitigate the risk of disclosing individuals from genomic data through a combination of data modifications and technical, legal, and administrative safeguards such that the genomics data is considered de-identified under HIPAA.
  • Informed Consent: Researchers must obtain explicit consent from participants before accessing their genomic data, ensuring transparency and respect for individual autonomy.
  • Secure Data Storage: Robust data storage infrastructure with encryption and access controls is imperative to safeguard genomic data against breaches or unauthorized usage.

Emerging Trends in Lab and Genomic Data

The landscape of lab and genomic data is evolving rapidly, driven by technological advancements and shifting healthcare paradigms. Key trends include:

  • Rise of Genomic Testing: Greater understanding of biomarker-drug associations, declining testing costs, and expanding reimbursement are fueling the proliferation of genomic testing across diverse clinical settings.
  • Shift Towards Less Invasive Methods: Innovations in liquid biopsy and other less invasive testing methods enable earlier disease detection and ongoing monitoring, revolutionizing disease management and patient care.
  • Population-Level Genomic Testing: Health systems are increasingly adopting population health screening programs to elucidate genotype-phenotype interactions and drive biomarker discovery, advancing precision medicine initiatives.
  • Diagnostics Industry Transformation: The diagnostics industry is witnessing a surge in direct-to-consumer (DTC) testing options, facilitated by startups and conventional players, leading to fragmented patient data capture and greater consumer empowerment.

Genomic data represents a transformative force in healthcare research and clinical practice, offering unprecedented opportunities for personalized medicine and improved patient outcomes. With Datavant's real-world data ecosystem, researchers can use genomic data while navigating privacy considerations and driving collaborative innovation in genomic medicine.

Through continual advancements and responsible data stewardship, the integration of genomic data into healthcare research holds the promise of a brighter, more personalized future for patients worldwide.

Access Genomic Data with Datavant Connect 

Datavant plays a pivotal role in democratizing access to genomic data through its real-world data ecosystem. By connecting to diverse sources of health data, including genomic and lab data, Datavant empowers actionable insights while ensuring compliance with privacy regulations. Benefit from:

  • Comprehensive Data Access: Datavant provides researchers with access to a vast network of genomic and lab data, facilitating multidimensional analyses and enabling groundbreaking discoveries.
  • Privacy-Preserving Technologies: Leveraging state-of-the-art privacy-preserving technologies, Datavant maximizes data utility of genomic data while protecting patient privacy.
  • Collaborative Research Opportunities: Datavant fosters collaboration among researchers and healthcare stakeholders, catalyzing innovation and accelerating the pace of scientific discovery in genomic medicine.

Datavant ecosystem provides access and connectivity to various data sources, including:

With Datavant, organizations can securely access genomic and lab data to empower data-driven decisions.


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