Samantha Maragh

Leader, Genome Editing Program

Samantha@nist.gov

NIST Genome Editing Consortium Overview

Building Confidence in Biological Measurements
REGENERATIVE MEDICINE/CELL/GENE THERAPY EXAMPLE 

Disease 

applications in 

development 

How did we get here?
How did we get here?

Genome Editing Measurement Needs

Confidence in existing 

assays

Informatics and Data 

confidence and norms

New assays for un-met 

measurement 

capability 

Leading recurring needs shared from the community

• How to quantify and reliably detect on-target and off-target genome editing?

• How to compare existing off-target location discovery assays?

• How to determine reliability of validating sequence variants?

• How to compare different genome editing reagents?

• Agreement on data reporting and informatics data formats

• A standard data set to test and understand comparability of informatics pipelines

65 participants at the 2016 NIST 

Genome Editing Standards Workshop 

identified pre-competitive standards 

and measurements needed to establish 

greater confidence in characterization 

of genome editing outputs. 
Building Confidence in Biological Measurements

How did we get here?

Focus group of experts supported a 

path forward of a NIST led Genome 

Editing Consortium with 3 focus areas:

1. Specificity Measurements

2. Data & Metadata

3. Lexicon

Some of the participants in the process:
NIST Genome Editing Consortium (now accepting members)

MISSION

Convene experts across academia, industry, non-profit & government to addresses the measurements and standards needed to 

increase confidence and lower the risk of utilizing genome editing technologies in research and commercial products. 

CONSORTIUM GOALS

• Qualify genomic assays used to evaluate genome editing outputs

• Develop reference materials

• Generate reference data and standard data formats

• Develop suggested minimal information reporting for public studies

• Generate a common lexicon for genome editing studies

CONSORTIUM IMPACT

• Shared genome editing relevant reference materials 

• Community norms for minimum data reporting and tools for supporting data analysis

• Improved understanding of and confidence in detecting and quantifying on- and off-target genome editing

• Harmonized genome editing lexicon

Building Confidence in Biological Measurements
Working Group 1: Specificity Measurements

• NIST qualification of existing genomic assays used to identify on-target and off-target genome 

editing genomic locations and sequence variants 

• Develop & qualify reference materials

Working Group 2: Data and Metadata

• Determine community norms for minimum information reporting

• Identify community norms for data formats and tools for benchmarking data analysis (e.g. in silico

data sets, experimental data sets) 

Working Group 3: Lexicon

• Identify terms and related definitions to form a common genome editing community lexicon

Building Confidence in Biological Measurements

NIST Genome Editing Consortium Working Groups
NIST Genome Editing Consortium (now accepting members)

WHY NIST? 

• Cross-disciplinary expertise in engineering, and the physical, information, chemical, and biological sciences 

• As a non-regulatory agency of the U.S. Department of Commerce, NIST does not impose standards; standards are accepted by 

consensus 

• Neutral convener for industry consortia, standards development organizations, federal labs, universities, public workshops, and 

interlaboratory comparability testing 

MODEL 

• Convenes industry, academia, and government to identify and address measurement and standards needs across the genome 

editing field 

• Enables members to work with NIST to develop measurement solutions and standards 

• Leverages NIST expertise in measurement science, standards development, reference materials, technology development, and 

basic research 

• Collaborates with related programs at other federal agencies

Building Confidence in Biological Measurements
NIST Genome Editing Consortium 

Building Confidence in Biological Measurements

*MEMBER BENEFITS

• Access to a neutral forum for addressing pre-competitive needs

• Participation in the development of experimental benchmarks, guidelines and terminology

• Access to tools developed by the consortium ahead of public release

• Institutional representation on consortium steering committee

Membership Process: 

• complete a Letter of Interest.

• NIST will reach out to interested parties to initiate signing a Cooperative Research and Development 

Agreement (CRADA). Consortium CRADA is identical for all participants. 

• *Membership fee of $20K or in-kind support of equivalent value to join. These contributions will 

supplement the NIST resources to enable us to generate and qualify the pre-competitive standards, norms 

and data the consortium members determine are needed to push the field forward and support innovation. 

website: https://go.usa.gov/xnV3 | email: samantha@nist.gov (Samantha Maragh)
NIST Genome Editing Consortium + public workshops 

Building Confidence in Biological Measurements

At these workshops, consortium members will:

• Discuss the progress of the consortium work

• Continue to get broad input to update or refine the consortium work plan

• Continue to broadly solicit consortium membership 

• Invite members to participate in work plan implementation, planned future experiments, and analysis 
Purpose: convene key stakeholders from industry, academia and government, to define a path forward for 

developing pre-competitive solutions to address the wet lab, dry lab and documentary benchmarks, norms 

and standards needed for genome editing- particularly the needs to support development of gene 

therapies.

Format: general session talks with discussion + breakout sessions to get detailed feedback and engagement.

Goals: 

1. clarify regulatory perspectives

2. Inform on the path forward for the NIST Genome Editing consortium3. Get public input on path forward 

• consortium members working with NIST will determine how to proceed and execute to develop the 

needed products.

Building Confidence in Biological Measurements

NIST-FDA Genome Editing Workshop April 23-24, 2018
DAY 1

Morning session 1: NIST, FDA, NIH SCGE 

Break

Morning session 2: Expert perspectives & panel discussion 

Lunch

Afternoon session 1: Plan for path forward presentations 

Break

Afternoon session 2: Breakout sessions & end of Day 1

DAY 2

Morning session 1: Technology Talks (approaches for DNA off-target and genomic rearrangement detection)

Break

Morning session 2: Reports from breakout sessions, next steps, and wrap-up

Adjourn

Building Confidence in Biological Measurements

NIST-FDA Genome Editing Workshop April 23-24, 2018

Agenda Overview