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Center for Genomic Interpretation Podcast Features Germline Variant Classification Expert, Dr. Bryan Gall, on Factors to Improve Accuracy of Genetic/Genomic Test Results

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Notes Julie Eggington, MS, PhD, CGI’s CEO and co-founder. “Getting the right and accurate information to the patient at the right time, including the proper variant interpretations, is absolutely an essential part of a quality-based approach. In fact, it can be a matter of life and death.”


SALT LAKE CITY (PRWEB)

The Center for Genomic Interpretation (CGI) continues hosting its cutting-edge Rising Tide Podcast series, which features nationally-recognized experts in precision medicine. In Episode 5, the CGI Podcast features an interview with Bryan Gall, PhD, a leading Clinical Variant Scientist in the germline clinical genetic test sector. The hour-long session, entitled “Variant Interpretation – the Achilles Heel of Clinical Genetics and Genomics: A conversation with a Clinical Variant Curation Team Supervisor working in the clinical genomic testing space,” focuses on some of the challenges and opportunities associated with ensuring the accurate interpretation of a genetic/genomic test results. To listen to the complimentary Podcast, click here.

In this dynamic interview, Dr. Gall addresses two core themes. First, how to best leverage research techniques to improve the accuracy of predicting whether a genetic or genomic variant is pathogenic, benign, or a variant of unknown significance; and secondly, assessing the current and future roles of artificial intelligence, also known as machine learning, in the field of variant interpretation.

Dr. Gall begins the presentation by noting that “labs are starting to introduce whole exome panels, and that basically means that they’re looking at every coding sequence in our DNA, so every single gene, they’re amplifying and detecting variants in every single coding exon. So you can imagine the rapid expansion and the number of variants that are going to be in a single case in that situation.”

During the podcast, Dr. Gall explores the following topics:

  • Genetic testing variability. Addressing the bottleneck of assessing genetic testing results and explaining why those results can vary from one lab to the next. The depth of analysis for each clinical case is often influenced by the amount of empirical evidence associated with each variant. Sometimes the interpretation will only take a few minutes because there are no studies or the evidence-based pathways are well established, and other times, it can take ours because there are dozens of studies to review.    

  • A patient-centered approach. Reminding scientists that the ultimate stakeholder in this equation is the patient because it is the patient that is going to bear the brunt of any inaccuracies that occur throughout the process.

  • Quality-based testing. Understanding the factors that impact the accuracy of lab test results is dependent on the workflows associated with processing wet or tissue samples, the lab’s instruments, the genetic/genomic analysis, the QA process, getting a second reviewer to interpret the results, and much, much more.

  • Value-based care. Discussing how insurers have a unique role to pay for quality-based testing through programs like CGI’s ELEVATEGENETICS. It is imperative that health plans help promote more accurate variant classification analysis and interpretation.

  • Evidence-based guidelines. Highlighting the role of the American College of Medical Genetic (ACMG) Practice Guidelines and the importance of updating the 2015 version in the near future; and using resources like ClinVar. The importance of promoting objectivity is critical when interpreting the scientific literature especially when a subset of the scientific studies are biased and others have methodological limitations.

  • Lab experience and capabilities. Noting many labs also develop their own documented resources which can include the pre-identification of variants and the potential impact on the patient based on prior testing. Unfortunately though, not all labs are created equal and some do report inaccurate results which can hurt patients (e.g., false positives/negatives).

  • The role of artificial intelligence. Utilizing artificial intelligence algorithms today can help with data analytics such as searching for key phrases or identifying population health trends but replacing qualified genetic/genomic scientists will take many, many years – if at all. The bottom line is machine learning can only do so much in terms of identifying the array of salient variables to ultimately determine the disease pathways caused by variants due to the number of possibilities.

  • Reading between the lines. Appreciating the “art” of interpretation as well as the “science” is important. For example, a variant might not always be a variant. Dr. Gall cites the example of how each individual gets two different sets of chromosomes from each parent, which means you might get one copy of a variant (heterozygote) or two copies (homozygote) – all of which could impact the expression and interpretation of the variant in different ways.

“Dr. Gall’s presentation reminds us of the importance of CGI’s mission to assist patients, labs and payers to navigate the precision medicine landscape with programs offered through ELEVATEGENETICS,” notes Julie Eggington, MS, PhD, CGI’s CEO and co-founder. “Getting the right and accurate information to the patient at the right time, including the proper variant interpretations, is absolutely an essential part of a quality-based approach. In fact, it can be a matter of life and death.”    

Don’t forget to tune in to this and future CGI Rising Tide Podcasts episodes. The complimentary podcasts are hosted through YouTube and can be viewed here.

For more information about CGI, see http://www.genomicinterpretation.org. CGI is offering several unique ELEVATEGENETICS programs that establish meaningful and actionable pathways to improve genetic/genomic testing, analysis and reporting. For payers, ELEVATEGENETICS metrics offer unique evaluations when selecting and contracting with laboratories. For laboratories, these programs offer a unique third-party review focusing on key aspects of the genetic/genomic testing process which can dramatically improve the accuracy of test findings. For providers and consumers, CGI offers a number of resources to better understand the complex landscape of precision medicine.

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The Center for Genomic Interpretation – http://www.genomicinterpretation.org

The Center for Genomic Interpretation (CGI) is an independent 501(c)(3) nonprofit organization with the mission to save and improve lives through encouraging careful stewardship of clinical genetics, genomics and precision medicine. Too frequently the precision medicine goals of patients and their providers are unknowingly thwarted by inaccurate or ineffective genetic or genomic testing. We facilitate the realization of value from among the confusing scramble of the new precision medicine era. The CGI team consists of clinical genetics and genomics scientific leaders, healthcare policy veterans, experienced business professionals, and others dedicated to helping stakeholders achieve the vision and promise of precision medicine. CGI offers a range of programs and services targeted to all stakeholders including patients, providers, payers, pharmaceutical developers, policy makers and laboratories.

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