PREVENTIONGENETICS, LLC
MARSHFIELD, WI

PreventionGenetics has been in operation since 2004. We have grown steadily over this time, and now have the largest germline DNA test menu of any lab in America. The quality of DNA testing at PreventionGenetics is second to none. "Getting the tests right" has always been our first priority. PreventionGenetics is CLIA and ISO 15189:2012 accredited. Our quality assurance processes, however, far exceed regulatory requirements. For example, we have had to date one error out of 10,000 total Proficiency Tests, both external and internal. Our sequencing error rate is about one per 7 million nucleotides or one per 9,800 sequence variants. Other summary measures of quality are listed in the "About Us" section of the web site. Utilization management is a current topic of particular interest in the realm of genetic testing. For many hospitals and health systems, the cost of sending out genetic tests is high (often > $1 million per year) and increasing at an annual average rate of about 20% (PLUGS&copy). Through utilization management strategies at PreventionGenetics, over 1.3 million healthcare dollars are saved annually Free testing for variants of uncertain significance is provided for up to two family members of probands who were tested at PreventionGenetics. All variants detected by NextGen sequencing that are pathogenic or of uncertain significance are confirmed by Sanger sequencing (except for uncertain variants in exome tests). All gene-centric aCGH results are confirmed by PCR. Breakpoints are identified in many cases through sequencing of the PCR products. We then offer more cost effective PCR tests for family studies. We retain excess DNA from patient testing so that it is available for future testing and for quality control. This saves considerable phlebotomy and shipping costs. Patients that undergo testing at PreventionGenetics receive a discounted rate on DNA Banking. PreventionGenetics retains complete patient sequences for reinterpretation and to benefit family members. This data is available for eventual transfer into patient electronic health records. We are transparent with test prices on our web site. Brief preventive medicine summaries about specific genes and associated disorders have been placed on our web site to act as resources for healthcare providers. These summaries may be particularly useful when preparing letters of medical necessity. We have provided all sequence variants found in our patients to the NCBI ClinVar database. We make all of our test data available for research purposes (while protecting patient confidentiality). We provide free variant interpretation for any clinically relevant gene. As of February 2018, we compared 26.8 Mb of Sanger DNA sequence generated at PreventionGenetics to NextGen sequence generated in other labs. We detected only 4 errors in our Sanger sequences, and these were all due to allele dropout during PCR. For Proficiency Testing, both external and internal, in the 14 years of our lab operation we have Sanger sequenced roughly 14,300 PCR amplicons. Only one error has been identified, and this was an error in analysis of sequence data. Jerry Machado is an ABMGG and CCMG-certified Lab Director in molecular genetics, and Chief Operating Officer at PreventionGenetics. He received his BSc and MSc in Molecular Biology and Genetics from York University in Toronto, Canada. Jerry then received his PhD in Cancer Genetics at the University of Toronto. He then went on to complete a 2-year clinical molecular genetics fellowship at the Hospital for Sick Children in Toronto. Jerry joined PreventionGenetics in 2012 and is a specialist in the genetic causes of inherited cancer syndromes, and leads the effort of whole exome sequencing. In addition, he is responsible for operations, strategic decisions, and policies of the company. Dr. Steiner joined PreventionGenetics in 2017 as Chief Medical Officer. An acclaimed physician-scientist, Dr. Steiner practiced as a medical geneticist, taught, and carried out research at Washington University and OHSU for more than two decades. At OHSU he rose through the academic ranks to Professor (tenured) and Vice Chair for Research in Pediatrics. Dr. Steiner received his B.S. and M.D. degrees from the University of Wisconsin-Madison, completing pediatric residency at Cincinnati Children’s Hospital. Fellowship in Medical Genetics was completed at the University of Washington/Seattle Children’s Hospital. Dr. Steiner returned to Wisconsin in 2013 to direct the Marshfield Clinic Research Institute. Subsequently, he served as Chief Medical Officer for Acer Therapeutics, leading clinical development during the transition to a publicly traded company. In addition to his primary role at PreventionGenetics, Dr. Steiner is a practicing part-time Clinical Professor at the University of Wisconsin School of Medicine, and Medical Geneticist/Medical Director at the Marshfield Clinic Health System. He is board certified in pediatrics, clinical genetics, and clinical biochemical genetics. Angela Gruber, Ph.D., joined PreventionGenetics in June 2014 as a Human Molecular Geneticist. Her portfolio includes neuromuscular disorders such as myopathies, muscular dystrophies, and neuropathies such as Charcot-Marie- Tooth Disease. She is the current director of the Specimen Processing Department at PreventionGenetics. Dr. Gruber earned her PhD in Biochemistry from the University of Wisconsin. Ben Dorshorst, Ph.D., joined PreventionGenetics in January 2016 as a Human Molecular Geneticist. His portfolio focuses on Hearing Loss and Deafness. Dr. Dorshorst received a Ph.D. in functional genomics from North Carolina State University. He completed his undergraduate work at the University of Wisconsin. Prior to coming to PreventionGenetics, Dr. Dorshorst was an Assistant Professor of Genetics at Virginia Tech.