Session Highlights Human Genome Samples for Benchmarking Mutation Detection

SALT LAKE, UT, US, September 20, 2022 /EINPresswire.com/ -- 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 6, the CGI Podcast features an interview with Justin Zook, PhD, Co-Leader, Biomarker and Genomic Sciences Group at NIST. The hour-long session, entitled “Dr. Justin Zook - Insights into updates and resources in the clinical genetics space from the Genome In A Bottle Consortium Co-Leader"” focuses on understanding the utility, as well as potential limitations, associated with Genome In A Bottle samples by clinical laboratories and the genomics community, as well as updates in technology options for increased accuracy in genomics. To listen to the complimentary Podcast, click Episode 6 to listen in podcast format, or click Rising Tide Podcast to watch or listen to the podcast.

In this dynamic interview, Dr. Zook addresses Genome In a Bottle benchmark options, as well as the PanGenome Project to help determine differences in accuracy between people of different ancestries. Discussions on how these resources can ultimately improve testing results and patient outcomes were addressed.

Dr. Zook also discusses how to best leverage different techniques to improve the accuracy of clinical DNA sequencing, which is a challenge for labs at times; as well as, utilizing Telomere-to-Telomere (T2T) reference genome and resources to fully assemble the analysis of the human genome.

Julie Eggington, MS, PhD and cofounder of CGI conducted the interview. She says “Labs can have CLIA, CAP, or NY State approvals, and their tests can be marketed the same, yet test accuracy can drastically vary between the labs in hidden ways. Having extremely well characterized reference samples is a must-have for the clinical genetics and genomics community, and understanding the strengths and limitations of these reference samples is critical for appropriate use. I learned so much interviewing Dr. Zook that I think many, if not most, clinical labs may not be aware of, unless they are regularly paying close attention to NIST. This interview is a much needed crash course and I encourage all labs, health insurance payers and other stakeholders to listen, watch or read the podcast. Doing so will assist decision makers in a variety of ways to make smarter decisions and course corrections that will ultimately save lives. I’m grateful to Dr. Zook for being so forthcoming in the interview."

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 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 – 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.

Judy Behm
CGI
+1 443-440-6001
email us here

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