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Making precision medicine possible with genomics in healthcare

Focus on: BC Platforms GeneVision for Precision Medicine on AppSource

Where once space was considered the final frontier for human exploration, today we increasingly appreciate the importance of looking inward to explore the building blocks of human life, the genome. Since the first human genome was sequenced in 2003, our understanding of this code for life has grown by leaps and bounds, creating new opportunities to apply this knowledge to improving human health and well-being.

One such opportunity lies in individualized patient reporting for clinical stakeholders, which provides genetic risk scores and lends insights into how genes affect a patient’s predicted drug responses and susceptibility to certain diseases and conditions. This data enables providers to overcome one-size-fits-all healthcare models, meet new safety and efficacy requirements, and move toward a new consumer-centric delivery, opening a new frontier of precision and preventative medicine.

Genomic data delivers the insights physicians need

Until now, providers have leveraged genomics primarily for oncology and treatment of rare diseases, limiting the benefits to a small population. However, with technological advancements rapidly driving down genome sequencing costs, genomics is poised to transform healthcare by delivering clinical insights at population scale.

Despite the growing desire to integrate genomics into their healthcare approach, many providers lack a long-term, scalable genomics strategy. Currently, they order genomic tests for patients on an as-needed basis, limiting the insights derived and reducing the potential benefits that could be realized from broader application.

Forward-thinking providers should actively pursue a longer-term strategy that enables them to generate genomic data on a larger scale, resulting in a greater pool of population data that can be used across multiple care scenarios. This reduces time and costs associated with collecting and analyzing genomic data because providers no longer need to order a new genomic test each time the patient requires treatment.

With an effective long-term strategy for genomics in healthcare, providers can leverage patient genotypic and clinical data together to tailor treatment to each patient, thereby improving and accelerating patient outcomes and reducing the risk of adverse reactions.

For example, consider how pharmacogenomic insights enable an improved outcome in a pain management case: Mary Slater, a 37-year-old mother of two toddlers, recently injured her back. Given her level of activity as a nurse and a mother, and her description of pain levels, her provider is considering prescribing codeine, an opioid pain reliever commonly prescribed for patients in similar circumstances. Before making a decision, her provider checks her pharmacogenomic report and finds that Mary possesses a genetic variant that makes her an ultra-rapid metabolizer for codeine. This means that her genetic makeup causes codeine to turn into morphine in her body too quickly, potentially causing life-threatening respiratory depression at normal dosage levels. Since codeine is not a suitable option for Mary’s pain therapy, her provider prescribes a safer pain reliever instead.

Mary’s story may be fictional, but it highlights a point that’s all too real. Codeine is the standard second step in the World Health Organization’s guidelines for pain management and one of the most frequently prescribed opioids for a range of conditions.[1] Yet a normal dose of the drug can prove fatal for some patients. A long-term genomics strategy enables physicians to leverage existing genomic data to provide insights they need to move beyond this one-size-fits-all approach to treatment.

Successful implementation of a long-term strategy for genomics in healthcare requires selecting the right technology solution to manage the processing of raw data into actionable insights. Yet, many providers don’t have an effective end-to-end solution in place.

Providers need a powerful genomic data management and analysis solution

Recognizing the need for a technology solution that fills this need, BC Platforms, a world leader in genomic data management and analysis solutions, created GeneVision for Precision Medicine, an end-to-end genomic data management and analysis solution. GeneVision processes raw genomic data and quickly generates user-friendly patient reports, for example on a patient’s genetic variants that may affect drug responses, as well as other reports. This empowers physicians with clear, actionable insights, facilitating evidence-based treatment decisions.

GeneVision saves time over typical analysis processes by accelerating analysis and offering the flexibility to conduct both genotyping and next-generation sequencing. Furthermore, the solution provides instant access to aggregated genetic variant data from trusted public databases, without the need for additional infrastructure. Throughout this process, providers have assurance that their patient data is highly secure and compliant.

This easy-to-use technology solution forms the backbone for a long-term, comprehensive genomics strategy that enables providers to deliver precision medicine on a population scale.

Partner with BC Platforms

Leverage BC Platforms GeneVision for Precision Medicine to equip your physicians with the tools they need to improve and accelerate patient outcomes. With over twenty years of experience building genomic data management and analysis solutions, BC Platforms is a trusted partner to healthcare providers and research institutions around the world.

Learn more about BC Platforms GeneVision for Precision Medicine on AppSource.


[1] European Review for Medical and Pharmacological Sciences