Relevant genetic test reporting: 3 essential tools

Minimize time spent on the reporting of genetic testing lab results. Read this blog post to learn about 3 capabilities that help labs deliver more results in much less time.

When patients are waiting for test results from a genetic testing lab, they’re likely imagining a printed sheet of paper or a .pdf file that states whether or not they have a certain indicator for an illness or trait. From the patient’s perspective, a good genetic test report is going to give a clear yes or no answer that helps the patient and care team make informed decisions about treatment, lifestyle changes or further exploration.

From the perspective of the pathologist, the report from the genetic testing lab is a distillation of several steps and multiple sources of genetic variant knowledge. The amount of information that can potentially feed a genetic test report starts with thousands of variants, hundreds of potentially relevant publications, and assorted unique circumstances specific to a patient’s age, environment or family history.

The time it takes to generate a usable genetic testing report from this volume of data directly controls the amount of volume the lab can handle. Just as important, the quality of the reports directly affects the usability of the information discovered. As genetic testing labs expand their capacity to deliver more tests, these critical factors will help determine their success:

1. Intelligent filtering and annotation of genetic variants
Of the thousands of variants detected in a gene panel, only a small fraction of them will generally be of interest. Genomic data filtration supported by a strong knowledge base can quickly drive this number down to just a few variants likely to be pathogenic, so that labs can focus on the most valuable part of their work: diagnostic interpretation.

By 2020, 55% of a lab’s next generation sequencing (NGS) cost will be allocated to biological interpretation. Controlling this cost through intelligent processes makes testing efficient and affordable.1

2. Templates designed for reporting genetic test results
Every patient’s case is different—but the information relevant to many genetic variants and conditions is repeatable. A flexible report generation system that allows the genetic testing lab to personalize a report as desired but also rely on pre-written text for specific scenarios can dramatically reduce the time it takes to create a report. A template with Boolean logic-based data rules that trigger variable text for defined data fields can instantly draft a large portion of a results report, while still assuring that every case is treated as unique. With much of the background work done, genetic testing lab personnel are free to focus on the distinctive aspects of a patient’s profile.

3. Results that highlight actionable information
A patient’s record should include information about genetic variant interpretation, correlation between the variant and disease, degree of risk, and other details. But that patient waiting for that printed sheet really has one question: was the test positive, negative, or inconclusive? Of course, if a genetic test is positive for pathogenic variants, there is a critical follow up question: what treatments are available? The report sent to patient-facing clinicians should let them know at a glance what they need to evaluate and treat their patients, without requiring them first to sort through and interpret elements more relevant to the lab technician or geneticist. The most sought-after information should be up front, with additional details available to consult as needed.

The results from genetic testing labs have benefits in a growing variety of specialties, from oncology to pediatrics to pharmacology. But neither physicians nor pathologists should have to become genetic experts to leverage its benefits. A user-focused approach to reporting genetic testing results—one that minimizes time spent on irrelevant findings and maximizes treatment value—ensures they won’t have to.

For more information on establishing an in-house lab for better clinical decision support, read our white paper, Molecular Diagnostics for Healthcare Facilities: How to Start and Scale an Efficient Testing Program.


1Caressi, Greg. Next Generation Sequencing Informatics Markets. Frost and Sullivan. November 2014.

Nabil Hafez

Sr. Director Product Management, Sunquest Mitogen

E24 nabil headshot2 (002)

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.

More by this author