News

SimulConsult and the Geisinger Genomic Medicine Institute won the Bio-IT World Best Practices Award in Informatics for their use of SimulConsult’s Genome-Phenome Analyzer to analyze genomes accurately and quickly.

SimulConsult receives SBIR I from the National Human Genome Research Institute (NHGRI) of the NIH beginning March 27 2013 with Michael M. Segal MD PhD as Primary Investigator. With the declining cost of whole genome sequencing, the main cost of such testing is becoming the cost of interpreting the huge amount of data that is generated. This project combines the power of using diagnostic software to examine all known diagnoses (the “phenome”) with the power of whole exome sequencing to examine the genome. In automating the genome-phenome analysis, this project brings the power of genome analysis to clinical practice – lowering costs while increasing accuracy.

Presented on March 22, 2013 by Segal MM, Wiliams MS, Tromp G and Gleeson JG at the American College of Medical Genetics 2013 annual Meeting.

SimulConsult receives SBIR I from the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the NIH beginning September 2013 with Michael M Segal MD PhD as Primary Investigator. This project responds to a critical shortage of pediatric rheumatologists by enlisting top rheumatologists to encapsulate the diagnostic information in their field in the most advanced decision support software tool for diagnosis. The project tests workability of integration into a tool used in other areas of medicine and assesses the benefits of such rheumatology assistance for both rheumatologists and general clinicians.

Published in Genome Web on May 18, 2012 by Uduak Grace Thomas. SimulConsult, a bioinformatics company based in Chestnut Hill, Mass., is marketing a new software tool called the Genome-Phenome Analyzer, which lets clinicians and research labs combine whole-genome and whole-exome sequencing data with clinical findings and phenotype information.

Published in Neurology on May 15, 2012 by Segal MM and Schiffmann R. The editorial discusses the role for diagnostic decision support in facilitating an evidence-based discussion between clinicians and payers.

Published in “Pediatric Neurology: Principles and Practice”, Swaiman KF et al., editors, 5th edition, Saunders, Chapter 108 by Segal M and Lever S

Published in MIT’s Technology Review on September 21, 2011. The article discusses IBM’s Watson, Isabel and SimulConsult in the context of medical decision support.

Published in Brain on July 12, 2010 by Peter Garrard, John Stephenson, Vijeya Ganesan, Timothy Peters. The authors used SimulConsult to analyze a historical diagnosis.

Published as a book in September 2009 by King MD and Stephenson BP, Mac Keith Press. In the book the authors discuss SimulConsult, beginning on page 1 with “With the explosion of electronic information such as found on PubMed and the availability of freely accessible diagnostic software such as SimulConsult one might ask what possible use is there for a handbook like this.

In an interview with Hugh Hewitt, Clayton Christensen comments on how SimulConsult will disrupt aspects of the health system.

Published in the Health Business Group Blog on March 6, 2009. In “The Computer Will See You Now,” Dr. Anne Armstrong-Coben highlights the depersonalization and mindless checkboxes of electronic health records. She identifies Tablet PCs as the way to deal with the depersonalization, but is silent on what to do about the mindless checkboxes.

Published on December 4, 2008 by Clayton Christensen et al. A book by Clayton Christensen and colleagues discusses SimulConsult as an example of a “disruptive innovation” that helps generalist and specialist doctors make diagnoses at the level of specialists and sub-specialists.

Published in Acta Pediatric in November 12, 2007 by Michael M Segal, MD PhD. Textbooks teach about diagnosis by describing diseases and the collection of findings in each disease. However, patients show up with findings, not diseases, and we must invert our knowledge to take the patient’s collection of findings and figure out the correct diagnosis. It is not so simple to do this, particularly in pediatrics.

MD NetGuide article “Top Ten Physician Inventors” (on page 7) cites as #2 Michael Segal MD PhD: “Was responsible for the development of SimulConsult, a decision-support software that combines clinical and laboratory findings to help physicians come to a simultaneous diagnosis on a disease.”

Published in Neurology Today on February 6, 2007 by Orly Avitzur MD. A sophisticated neurology wiki that helps doctors make clinical decisions is exactly what child neurologist Michael M. Segal, MD, PhD, had in mind when he created SimulConsult. SimulConsult users input data into software that helps them arrive at a differential diagnosis of neurological syndromes.

Published in Journal of Child Neurology in April 21, 2006 by Michael M Segal MD PhD. Medical practice will be improved by the use of software that not only assists with diagnosis but can do so at the bedside, where the doctor can act immediately upon suggestions such as useful findings to check. Medical education will shift away from a focus on details of unusual diseases and toward a focus on skills of physical examination and using compertized tools.

Neuronline review of SimulConsult by G. Fuller. Imagine the scene: you have just seen a patient with what seems likely to be an inherited or congenital syndrome who has a combination of symptoms and signs you do not recognise and in whom standard investigations have provided no clues. What do you do? Looking in the books is very time consuming and depends on how well the books are indexed; searching PubMed or online inheritance in man (OMIM) is often difficult using just symptoms and signs. Wouldn’t it be useful if you could put the clinical information into a database to narrow down the differential diagnosis?

Medical decision support software is the term used for computer programs and associated databases that help make diagnoses and advise on treatment. Because such software deals with skills that are central to the role of doctors, it tends to be the focus of hopes and fears about medical software.

by Orly Avitzur MD in the American Academy of Neurology’s publication “Neurology Today”: James D. Reggin, MD, the only child neurologist at MeritCare Health System in Fargo, ND, was called into consultation for an infant delivered 11 days earlier by C-section, now in respiratory distress and intubated, when pediatricians observed persistent hypotonia and a poor sucking reflex. Dr. Reggin noted that the infant displayed dysmorphic features as well as severe microcephaly, syndactyly, and multiple capillary hemangiomas. When he could not pinpoint a specific syndrome, he turned to SimulConsult, a computerized decision-support tool that helps neurologists arrive at difficult diagnoses by entering a list of findings.