From: The IGNITE network: a model for genomic medicine implementation and research
 | University of Florida | University of Maryland | Indiana University | Vanderbilt University | Duke University | Icahn School of Medicine at Mt. Sinai |
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Type of Genomic Data Collected | Multiple pharmacogenomic variantsa | Pathogenic/likely pathogenic variants in monogenic diabetes genes | Multiple pharmacogenomic variantsa | Multiple germline and somatic pharmacogenomic variantsa | Family health history pedigree and personal risk assessment report | Test for variants of APOL1 gene that increase kidney failure risk in adults of African ancestry |
Sample/Data Collection Methodb | Blood or sputum, QuantStudio, Luminex xTAG, GenMark or ViiA 7 | Blood, Ion Torrent, Sanger Sequencing | Blood or sputum, QuantStudio | Blood, Illumina-ADME array; transitioning to QuantStudio for future testing | Patient enters data into web-based data collection ool | Blood or sputum |
TaqMan PCR | ||||||
Sample/Data Storage and Securityc | Clinical data in EHR; research data/samples in biorepository/IDR; secure facilities | DNA in secure freezer; data in binary (.BAM) and VCF files, text, spreadsheets, chromatograms, in secure software | DNA secured via limited access room and locked freezers; data in secured database and Eskanzi EHR | Data stored on individual site servers; Veterans Affairs site data on FISMA compliant server | Cloud server/risk assessment report and health pedigree in patient EHR; secured server | Clinical data in EHR; secured server |
Test Results and/or Data Distribution to Providers or Patientsb | Via EHR as lab results and CDS in EHR to providers, and/or secured communication to provider with clinical guidance | Clinical consult note in EHR, patient provided custom report, consult note, letters for patient and family members | Via EHR for physician; samples available upon request from biobank | Identifiable data integratedinto EHR for clinical decision making. | Via EHR (provider report); via web-based tool (patient report) | Through CDS in EHR to primary care clinicians; in person and in writing to patients |
Use of Genomic Information in Process of Care | CDS alert and/or PGx consult used to inform drug therapy changes | Results may change diagnosis (to MODY or other monogenic diabetes type), treatment plan or follow up frequency | Results used to help guide patient care and therapy choices | CDS alert at order entry will indicate drug therapy alternative (active CDS) or PGx consultant will send message to provider (passive CDS). | Risk assessment report of elevated familial risk based on guidelines for a finite number of conditions and diseases given to providers/patients | CDS alerts to providers to help risk stratify hypertension patients; low-literacy materials to patients to guide care choices, activation and adherence |
Expected Impact on Clinical Decision Making | Optimized drug therapy decision making with incorporation of genetic information in clinical decision making process | Potential change in treatment modality | Improved therapy decision making as a result of patient-specific genetic information | Changes in drug prescribing in individuals with SNPs that indicate lack of efficacy or increased toxicity. | Improved FHH in primary care; enhanced adherence to guidelines; promotion of patient-provider communication | Increased attention to blood pressure control and renal disease screening for clinicians and patients, improved patient-clinician communication |
Potential Benefit to Patient | Optimal drug therapy selection for improved efficacy and/or safety and reduced risk of adverse outcomes | Optimal, cost effective, glucose control; provision of more accurate diabetes risk assessment and diagnosis | Optimal drug therapy selection for improved efficacy and/or safety and reduced risk of adverse outcomes | Optimal drug therapy selection for improved efficacy and/or safety and reduced risk of adverse outcomes | Education on FHH collection; improved patient-provider communication; improved preventive care/screeningbased on FHH | Better quality of care, improved knowledge/health behaviors, lower blood pressure, improved renal surveillance, better health outcomes and quality of life. |