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
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
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
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.