Designing informatics for genetic diagnostics: four key questions

As more healthcare facilities expand their genetic testing capabilities for use in diagnosis and treatment choices, workflows, processes and informatics that support the highest level of accuracy are crucial.

Bringing the fruits of genetic testing from the research lab to the physician’s office is one of the most exciting medical developments of the 21st century so far. Applications ranging from neo-natal diagnosis to cancer care to predicting adverse medication responses promise higher confidence for clinicians and better outcomes for patients.

Making good on that promises starts with the genetics lab, where high standards for accuracy have never been more important. Genetics testing was born in research laboratories, where standards for precision and careful documentation are high, but the stakes are not the same as those for clinical purposes. Errors in research could lead to a faulty conclusion in a paper, but an error in diagnostics could have much more profound consequences. Lab mistakes present a liability risk to healthcare facilities and, more gravely, could be life-threatening for patients.

As more healthcare facilities expand their genetic testing capabilities for use in diagnosis and treatment choices, workflows, processes and informatics that support the highest level of accuracy are crucial.

With that in mind, here are four key questions to consider when looking at solutions for the molecular lab:

How will the solutions you use work with what you have, and what you might use in the future?

The workflow of a genetics lab has several informatics touchpoints. Choose solutions with the flexibility to integrate with your current system. For faster implementation and lower costs, look for a vendor experienced in working with many different systems. A workflow that is integrated from end to end—from order to results—assures the most accurate diagnostics.

How can you be sure you’re using the most up-to-date medical knowledge?

As our understanding of variants improves, variant classifications change. Lacking this information can lead to less effective treatment choices for patients. While the question of legal responsibility is still being settled in the courts, the importance of high-quality sources has never been in doubt. Initiatives like GeneInsight’s VariantWire allow labs to share new information in real-time, to improve the accuracy and confidence of variant calls.

How is lab information shared with clinicians to optimize decision making?

The incredible complexity of genetic medicine can make generating reports to share with physicians difficult. Of all the variants discovered and classified, which are actually relevant to the individual patient’s current concern? A report-generation solution specifically designed for the molecular lab can help pull together key findings automatically while still allowing the lab to personalize each report.

If the solution is interoperable, it can even deliver those reports directly into the individual EMR. It’s even possible, with solutions like GeneInisght Clinic, for clinicians to receive real-time variant updates—specific to individual patient cases—when knowledge changes. A variant of unknown significance (VUS) may be reclassified as pathogenic months well after a patient’s genetic testing is complete. Ongoing alerts to physicians create new and more effective opportunities to improve patient care.

Are the variant assessment, interpretation and reporting tools of the solution clinical-grade, registered medical devices?

Sometimes when a healthcare facility sticks a toe into genetic testing, they start with homemade pipelines and Excel spreadsheets. As they expand, it’s tempting to focus on finding solutions that provide a networking or technology upgrade. But the informatics of a pathology lab are first and foremost a diagnostic tool, and clinical reliability is the primary concern when it comes to meeting that first objective: better outcomes for patients.

For more information on choosing solutions to enhance your lab’s molecular capabilities, download our white paper Build or Buy: Optimizing Informatics for Genetic Testing.

Nabil Hafez

Sr. Director Product Management, Sunquest Mitogen

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Cutting his teeth on the Human Genome Project, Nabil was hooked. 16 years later his passion remains focused on enabling technologies to bring precision medicine to mainstream medicine.

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