President’s Corner - Clinical Sequence Data 

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I had mixed feelings upon reading the new Genome UK Plan. On the one hand, it was satisfying and pleasing to see firmly incorporated into the plan so many of the concepts (like for example disease prevention through genetic testing) that I and others have championed for so long. On the other hand, it was disheartening to realize how far the US is behind the UK.

Updated Intellectual Disability, Epilepsy, and Autism (IDEA) Genetic Testing Panel

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Intellectual disability (ID), epilepsy, and autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders that are inherited in a multifactorial fashion. PreventionGenetics’ Intellectual Disability, Epilepsy, and Autism (IDEA) Panel is exome-based and allows for reflex to PGxome whole exome sequencing. This panel also includes exome-wide copy number variant (CNV) detection. This method allows for cost-effective identification and reporting of potentially important, large CNVs across the full exome in conjunction with any sequencing variants and/or smaller CNVs identified within the panel. 

Dr. James Weber, PhD, Receives Wisconsin Biohealth Business Achievement Award

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Marshfield, WI - Dr. James Weber PhD, President and Founder of PreventionGenetics, has been named the 2020 recipient of the Wisconsin Biohealth Business Achievement Award. The annual award recognizes leaders in Wisconsin for their achievements in the biohealth and life science industry.

Introducing PGnomeⓇ - Whole Genome Sequencing from PreventionGenetics

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Marshfield, WI - PreventionGenetics is excited to announce the availability of their new whole genome sequencing (WGS) test, PGnome®. Prices start at only $2,490 for testing of a single patient. WGS is the ultimate germline DNA test. It is superior to exome and other genetic tests because it covers the entire genome, including deep intronic regions. WGS yields better detection of structural variants (deletions, duplications, inversion and translocations of DNA sequence) and improved analysis of tandem repeats and paralogous regions. Furthermore, WGS is essential for assessing disease risk and prevention using polygenic risk algorithms.

Introducing PGnome® Whole Genome Sequencing

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We're Excited to Announce the Launch of Our Whole Genome Sequencing Test: PGnome®

Prices start at $2,490 for testing of a single patient. WGS is the ultimate germline DNA test. WGS is superior to exome sequencing because it covers portions of the genome, such as deep intronic regions, that are not covered by exome sequencing and yields superior detection of structural variants. In addition, genome sequencing provides improved analysis of tandem repeats and paralogous regions and is essential for application of polygenic risk algorithms. The great majority of variants used by polygenic risk algorithms are not located in coding regions and are, therefore, missed entirely by exome sequencing.