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3 Ways to Overcome Information Overload from Genetic Testing

Contributing Lab Leaders: Michael Laposata, MD, PhD and Kenneth Bloom, PhD

3 Ways to Overcome Information Overload from Genetic Testing
OPERATIONAL

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.

When NOT to use whole genome sequencing

By Michael Laposata

When trying to pinpoint a specific genetic issue, whole genome sequencing is not a perfect fit. This method would require the lab to reconstitute all of the patient’s DNA and run the sequence many times to uncover the answer.

Patient diagnosis

  • Acute myeloid leukemia

Gene targeting approach

  • Provided only the relevant information

  • Evaluated which genes are mutated in the tumor

  • Identified 53 relevant genes to test in a targeted panel

Guiding the course of care

  • Determined severity of cancer and chemotherapy approach without information overload

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.

When NOT to use whole genome sequencing

When looking for depth, not breadth

When trying to pinpoint a specific genetic issue, whole genome sequencing is not a perfect fit. This method would require the lab to reconstitute all of the patient’s DNA and run the sequence many times to uncover the answer.

It’s complex and expensive.

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.

LabLeaders case study: Getting an expert opinion

By Michael Laposata

Background

  • A baby dies, with visible bruises

  • Parents accused of beating the child

Analysis

  • One of the mutations is in a titan gene, which is important in pumping action in the heart

  • Went through the entire coagulation test menu; couldn’t find a known bleeding disorder that applies

  • Did an exome analysis; found seven mutations, but none that fit a bleeding problem

Challenge

  • Nobody on the case knew exactly how this gene works

Solution

  • "A heterozygoud tital mutation may have an impact, but it doesn't always, so the penetrance is different."

  • Reached out to an expert, who offered a key insight:

  • This helped illuminate that a genetic mutation, not abuse from parents, was implicated in the baby’s death

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.

Growing DMTs organically

By Michael Laposata

To expand the use of DMTs at Vanderbilt, Laposata took three very thoughtful steps:

  1. Coordinated the first DMT conference for a challenging case

  2. Positioned it as an opportunity to develop personal/departmental expertise and improve institutional quality

  3. Promoted it within institution

Word began to get out about the value of these conferences. Before he knew it, separate teams were springing up throughout the institution to handle any and every tricky diagnostic situation.

Virtual tumor boards

Why should DMTs have to be local? What if you could take experts from anywhere and arrange collaborative sessions virtually? This is Laposata’s vision for a virtual tumor board. All you need is three things:

  1. Experts

  2. HIPAA-compliant, web-based video conferencing platform

  3. Digitized readouts for all patient information and scans

A major challenge remains—how to pay for these sessions—but nevertheless, the vision and technology are in place.

 

On virtual diagnostic reality

With traditional tumor boards, you wait two or three weeks and don't present many of the cases. Now, we're talking about real-time tumor boards that actually involve the patient. That's what everybody who has cancer wants. And we can do it—we, the lab.

Michael Laposata, MD, PhD

Professor and Chairman of the Department of Pathology

University of Texas Medical Branch in Galveston

 

Less overload, more empowerment

While leveraging the full power of genetic testing is a vision for the future, these insights for managing information overload are already being applied.

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

  2. Search outside your lab, and also within it

  3. Work better and smarter—together

Don’t wait for genetic testing to be imposed upon you—embrace it, lead it and put these ideas into practice to successfully manage it along the way.

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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