3 Ways to Overcome Information Overload from Genetic Testing

3 Ways to Overcome Information Overload from Genetic Testing

Article highlights:

  • Select targeted tests over whole genome sequencing when trying to pinpoint a specific genetic issues.

  • Get an expert opinion and work with diagnostic management teams (DMTs) to optimize patient outcomes and make sense of large data volumes.

  • Utilize tools to streamline the data analysis process and make results easily searchable.

As labs take advantage of new ways to guide care using data, their power multiplies. They are opening possibilities to maintain wellness, target therapies and create value. Their data and knowledge make them invaluable—and this is just the beginning.

But does more data always mean more power?

With the rise of genetic testing, the lab has more data than they can possibly handle. And with the promise of leveraging this data more and more into the future, genetic testing is not slowing down.

Yet with little ability to transform genetic data into actionable insights, laboratorians are often left feeling less empowered and more overloaded. To speed diagnosis and optimize utilization of genetic tests, they first have to begin to make better sense of their information. They need to overcome information overload.

Here are the top three ways to make this a reality.

1. Choose tests that give the right information, not the most information


Whole genome sequencing offers some incredible benefits, yet may not always be the best testing approach.

According to Kenneth Bloom, Ph.D., “We understand 1% of the total genome—max. Whole genome sequencing takes much more time and resources, and we’re incredibly limited with what we can do with the information. In many cases, it can offer care-changing insights, but we need to be thoughtful about when to use it. “

Overcome information overload with a more targeted testing approach

Simple lab test

Many common genetic disorders don’t require genetic sequencing at all. Before taking excessive action, see if there is a lab test that can give you all the answers you need.

Gene panel

Sometimes, you don’t need to test for every gene, but only a handful. If you determine that a particular cancer, for example, only affects a targeted set, a gene panel can be all you need to guide the course of care.

Genetic mutation analysis

If you’re looking for a specific mutation within a gene, a genetic test may be all you need. As with gene panels, start by identifying the disorder, deduce which genes are implicated, then perform targeted genetic tests to look for common mutations in those genes. This method is commonly used in matters related to family history.

2. Search outside your lab, and also within it


Despite the knowledge of anyone in your network, sometimes the answer lies beyond. And sometimes, it’s right under your nose. So when you’re treading in a sea of data and looking for direction, just get searching.

Overcome information overload by knowing where to look

Search for an expert

Whether a health care professional or not, a genetics expert may hold the key to your most challenging questions. Look far and wide for this person and connect by any means. Your patients’ lives could be at stake.

Search within your data

Forward-thinking lab leaders, like Kenneth Bloom, have built tools to help make sense of their data. Here are two amazing examples of what they can do.

Example 1: Real-time genome queries

Commercial databases, such as Bloom’s HLI search tool, function like Google for genetic data. His team can input questions like, “How often do we see [this particular] genome as it pertains to a disease?” This has done wonders to help HLI sift through data, inform care, and avoid information overload.

Example 2: Redefining a trio analysis

If a patient has a syndrome that can’t be identified, a genomic database search tool can help rule out syndromes that their parents don’t have or carry. Bloom’s tool can do this by taking a baby’s genome, then subtracting the mother’s and the father’s genomes. While this can take months with a traditional trio analysis, this tool can do it in seconds. Users can then refine the results further with a keyword analysis.

Search the literature

Considering how little we actually know about the human genome, you may find yourself looking for an answer that has yet to be uncovered. Laposata recommends doing a weekly literature search on relevant topics. When someone somewhere gets a lead, you will too.

3. Work better and smarter—together


No matter how much any individual knows, it is only a fraction of what your network collectively knows. Don’t go it alone. Bring leading minds together and collaborate to make sense of the unknown.

Overcome information overload by leveraging your collective wisdom

Diagnostic management teams (DMTs)

For any case, assemble a team of the brightest minds to contribute their knowledge. Include experts such as anatomic pathologists, geneticists, specialists from across departments and critical care—and perhaps even the patient and family. This enables you to optimize not only patient outcomes, but your ability to manage volumes of information.

Contributing Lab Leaders

Michael Laposata, MD, PhD

Professor and Chairman of the Department of Pathology

University of Texas Medical Branch in Galveston

Kenneth Bloom, PhD

Chief Medical Officer of Advanced Pathology and Genomic Services

Invicro and Ambry Genetics, Konica Minolta Companies


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