In some cases, the utility of patient genotyping prior to therapeutics is of unquestioned value. In non-Hodgkin’s and Mantle Cell lymphoma, DNA sequencing of the tumor provides personalized cancer vaccines that demonstrate statistically significant Phase III clinical trial results with disease-free survival benefit in treatment of these types of follicular lymphoma . The Oncotype DX® panel for detection of breast cancer biomarkers has been of unquestioned value, according to a recent report from the Institute of Medicine . Deep sequencing and mass spectrometry of tumors has led to specific, sensitive and early detection of Trisomony 21 . Patient-specific warfarin (Coumadin®) dose adjustment is much more accurate using a combination of allelic and clinical information than using clinical data alone .
In psychiatry, recent questions about the efficacy and toxicity of Selective Serotonergic Reuptake Inhibitors (SSRIs) and atypical antipsychotic drugs have surfaced. Some have even questioned whether SSRIs are effective at all . It is clear that there is strong inter-patient genotypic variation in response to psychiatric drugs . The emergence of AssureRx Health’s GeneSightRx® diagnostic test can assure that the psychiatric patient’s response and metabolism is aligned with the appropriate therapeutic . Medco Research Institute®, a division of Medco Health Solutions (Pharmacy Benefits Manager that serves 60 million U.S. patients), and AssureRx Health have initiated a pilot program to evaluate adoption and clinical Impact of pharmacogenomic testing for selection of psychotropic medications .
Okay, so what does this have to do with Clinical IT?
1. We need to quickly move validated genomic diagnostic tests into the Electronic Health Record (EHR) .
2. To reach this goal, we need to educate clinicians about genomics and the obvious benefits of these diagnostic tests. To date, oncologists, medical geneticists, genetic counselors and pathologists have been at the forefront of recognizing the value of these tests.
3. We need to have EHRs that can accept unstructured data such as genomic sequence data, as well as decision support surrounding genomic diagnostic test results .
The eMERGE (electronic MEdical Records and Genomics) coalition, funded by the National Institutes of Health (NIH), have shown that mining EHRs can accelerate the collection of data for genetic research on various diseases. According to recent results from eMERGE, mining data from EHRs helped researchers identify patients’ diseases with an accuracy rate of between 73% and 98% .
The NIH Strategic Plan on Biomedical Informatics and Computational Biology goes even further : “Post-genomic biomedical science and medical practice will lead to re-classification of disease, as exemplified by the ICD (International Classification of Disease)-11 revisions. Classifying diseases based on genetic differences in affected individuals rather than by clinical symptoms alone makes diagnosis and treatment more effective. Identifying human genetic variations will eventually allow clinicians to sub-classify diseases and adapt therapies to the individual patients.”
Mark S. Boguski, M.D., Ph.D., F.C.A.P., of Beth Israel Deaconess Medical Center and a Professor at Harvard, has been a leader in a variety of “blue dot” initiatives to train residents in genomics. Even more importantly, with the ability to access a patient’s genome and transcriptome from the EHR, he views “Whole Genome Analysis as a Universal Diagnostic.” .
See also www.medpagetoday.com/Blogs/25732 (a taste of irony) http://www.biovest.com/cancer-vaccine-technology/biovaxidr/personalized-cancer-vaccine Generating Evidence for Genomic Test Development: Workshop Summary, Institute of Medicine, http://www.iom.edu/Reports/2011/Generating-Evidence-for-Genomic-Diagnostic-Test-Development.aspx (thanks to Anthony Guerra for this reference) http://www.sequenom.com/home/media/news/ http://www.warfarindosing.org Pigott et al, Efficacy and Effectiveness of Antidepressants: Current Status of Research. Psychother. Psychosom. 2010;79:267-279 (DOI: 10.1159/000318293). David Mrazek, Psychiatric Pharmacogenomics. Oxford University Press, USA. ISBN-10: 0195367294. http://www.assurerxhealth.com/index.php?id=208 Kho, A et al (2011) Sci. Transl. Med. 20, 3:79, p. 79. Higgins, G.A. et al, unpublished Presentation at the World Biomarker Congress 2011, May.