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SMART-on-FHIR Genomics: Enabling Precision Medicine by Bridging Clinical and

Genomic Information

FHIR® and the FHIR Icon are trademarks of HL7, Inc. (http://hl7.org)

Presented by:

Gil AlterovitzAssistant Professor, Harvard Medical School

and Computational Health Informatics Program, Boston Children's Hospital

Today’s Presentation

The Problem: How to enable Precision Medicine at point of care.

Clinical Genomic Apps for EMRsPrecision Cancer Medicine

SMART on FHIR/FHIR/GA4GHPrecision Medicine

SMART on FHIR 2.1+

Use Cases

2Clinical Informatics webinar series. Nov. 05, 2015

Precision Cancer Medicine (PCM) AppWarner & Alterovitz

DB (Diabetes Bear) EMR App Alterovitz & Yang

Genomics Advisor AppAlterovitz & Zhang

Electronic Medical

Record (Clinical

and Genomic)

Genomic

Datasets

SMART on FHIR

Genomic

Sequence/Lab

SMART on FHIR

Server

SMART+FHIR+G

Genomics Advisor App

Problem

EMR apps only include clinical information, but genomics can add complementary information about risk of disease, drug susceptibility, and related conditions

Solution

Create a module that can be integrated into disease-specific apps.

Features

Present relative risks of diseases based on patient's’ genotype.

Clinical Informatics webinar series. Nov. 05, 2015

Clinical Informatics webinar series. Nov. 05, 2015 8

SMART Clinical

server

SMART Genomic

server

SMART on FHIR

Google

Genomics

(Ga4gh)

Genomics Advisor

Get /Patient

Get /Medication

Get /Observation

Clinical

Get /Sequence

Get /DiagnosticReport?

profile=genetics

Get /callSet

Genetic

Call variantSet,

readGroupSet

Reads,

Variant info

Genomics Advisor Integrated with Ga4gh and 1KGP

Precision Cancer Medicine (PCM)

Problem

Many rare somatic mutations needs to be taken into account for cancer prognostics

Solution

iPad app for clinicians to compare patient variations with those of population on site.

Features

View variants of patient and population PlannedBayesian updates on statsIn-app comparison of patient-based prognostics for different drugs

Precision Cancer MedicinePCM App

Target: Developers,

Clinicians/patients as end-

users.

Use: Access and search

patient clinical, genomic

records, and genomics

datasets/repositories.

Target: Clinicians, Hospital

IT Professionals

Use: Standard for access

and search of patient

clinical and genomic

records

Target: Genomic

researchers, others.

Use: Standard to share

genomic data for

research/development.

Details

- Genomics integrated

directly into clinical

model.

- Genomics as a profile

on top of Observation

resource

- Sequence and non-

sequence based

genomic tests

- Genomics adopted in

FHIR DSTU 2.0

- Uses current standards

- FHIR Profiles

- Alignment (e.g. MU 2.0)

- Patient record scope/

authentication

- Single sign-on layer

- UI Integration Layer

(Launch within EHR)

- Integrates GA4GH and

FHIR Genomics

- Provides genomic data

shadowing/constraints/ma

ppings

Details

FHIR Genomics Development

Sequence+

ObservationResources

ObservationResource

DSTU1 DSTU2 DSTU2.1+ Normative

Jan 2014 Sep 2015 Dec 2015? 2016?

FHIR Genomics+

SMART on FHIRSep 2015

Recommendation Actions to Advance

FHIR could be included as an emerging standard4, especially for transport of data. Argonaut may provide opportunities to advance. Sample uses of FHIR: authorization; genetics, family health history, build on current work on SMART on FHIR Genomics1

Apply accelerators (e.g., S&I Initiative, pilot project, policy guidance) to existing standards by ONC

Recommendation Actions to Advance

2016 PMI S&I: Additional ONC investment in pilots of FHIR for PMIresearch/individual data donation use case

Apply accelerators (e.g., S&I Initiative, pilot project, policy guidance) to existing standards by ONC

Preparing For Precision Medicine

High-dimensionalDifferent format

Different ways to interpretNew data in the future Representation

StorageAnalysis

Omics Data

Observation-genetics：Subject, performer, device,

specimen，..

Genetics and sequence

pointer

Clinical data

Genetics

Diagnostic

Report

Subject, …

result

Standard Genetics Profile:

AssessedCondition，familyMemberHistory

DiagnosticOrder-

genetics：Subject, orderer

ItemsClinical data

Genetics

SMART on FHIR Genomics and GA4GH

Sequence

Observation: clinic info, knowledge-based analysis, variant

Atomic result

Diagnostic Reportresultresultresult

Variant info in ga4gh

(coordinate, name, id)

Other info not in ga4gh

(species, source, etc)

Read info

Ga4gh read group

Genetic Profile: Assessed Condition

Family Member History

SMART on FHIR Genomics and GA4GH

Ga4gh variant info

SMART on FHIR

Genomics

Ga4ghClinical Informatics webinar series. Nov. 05, 2015

Observation 1

Clinic info 1

Sequence 1

Observation 2 Observation 3

Clinic info 2

Sequence 2

Clinic info 3

Sequence 3

Clinical context 1: condition, patient,…

DiagnosticReport 1

Integrated into Clinical

Data Model and Workflow

Single variant and key elements or a sequence

Cross references to GA4GH

Extensible to future omics

Sequence Resource

GA4GH API:https://www.googleapis.com/genomics/v1beta2

http://grch37.rest.ensembl.org/ga4gh , etc.

GA4GH full sequence links

callSet1 sample

Variant info

Variant callgenotype determination for 1 variant

Read groupcollections of reads produced by a sequencer

Search Reads：Read group set ID，start，end

Observation Resource

Examples for component.code

Example for Observation resource - Somatic mutation

Example for Sequence resource - EGFR mutation

Domain Analysis Model (DAM) Use Cases, Release 2

1. Specimen Identification2. Clinical Sequencing (Germline)3. Cancer Profiling (Somatic)4. CDS (Family History and Drug Dosage Calculator)5. Public Health Reporting6. Clinical and Research Data Warehouses

Specimen Identification

Explore antibacterial drug resistance over time (non-patient DNA)

Get references to all DNA sequences of tuberculosis bacteria(SNOMED code: 56717001) from given patient:

GET /Observation?value-reference.species=http://snomed.info/sct|56717001&subject=123

DAM Case 1

Search results:<Bundle>

<reference value=“s1”/></valueReference>…

</Observation></resource>

</entry>…

</Bundle>

</coding></species>

</Sequence>

Family History – Genetics – Search Results

</coding></code><subject><reference value="Patient/example"/><display value="Peter James Chalmers(MRN: 12345)"/>

</subject><issued value="2015-05-26T15:30:10+01:00"/><method>

</coding></method>

</Observation>

<DiagnosticReport><id value=“dl”><subject value=“mrn12345”><extension

url=http://hl7.org/fhir/StructureDefinition/geneticsFamilyMemberHistory/>

</valueReference></extension>…

</DiagnosticReport>

<FamilyMemberHistory><id value=“fl”><relationship value=“mother”><extension url=“http://hl7.org/fhir/StructureDefinition/family-

member-history-genetics”/><valueReference>

</extension>…

</FamilyMemberHistory>

<DiagnosticReport><id value=“d2”><subject value=“mrn23456”><result value=“111”>…

</DiagnosticReport>

Genetic test Report forPeter James Chalmers (MRN: 12345)

Genetic test Report for the mother ofPeter James Chalmers (MRN: 12345)

Desiderata For Improved Clinical-Genomics Apps

FHIR for clinical ‘omics

Concise & consistency over diverse data resources

Focus on relevance to clinical-genomic apps

Leverages GA4GH research models for translation

FHIR Genomics Connectathon

• January Orlando

• FHIR Genomics use cases

• Experts meet with teams beforehand or available in-person/video conferencing/skype at event.

• Develop apps and put completed ones in gallery

Ver. 2.1 Staging URLs

Sequence Resourcehttp://genomics-advisor.smartplatforms.org:4000/sequence.html

Standard Profile for Geneticshttp://genomics-advisor.smartplatforms.org:4000/observation-genetics-cg-

prf.html

Standard Profile for Family Member History Geneticshttp://genomics-advisor.smartplatforms.org:4000/family-member-history-

genetics.html

SMART on FHIR: How it can bridge Google GA4GH with ... · FHIR Target: Clinicians, Hospital IT...

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