Table 2 IGNITE network strategies for data collection, distribution and use in patient care

Type of Genomic Data Collected

Multiple pharmacogenomic variants^a

Pathogenic/likely pathogenic variants in monogenic diabetes genes

Multiple pharmacogenomic variants^a

Multiple germline and somatic pharmacogenomic variants^a

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 Method^b

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 Security^c

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 Patients^b

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.