March 2017

Matchmaker Exchange Tiered Consent Policy
The need for patient consent to data sharing for clinical care or research depends on theprobability of occurrence and seriousness of potential harm of re-identification in thematchmaking process. The first step of matchmaking involves a search being conducted by adata requester to establish the existence of similar patients in a collection of patient records
located elsewhere. This step involved exposing data to search algorithms in order to detect amatch. Once a discovery hit has occurred, it is typically then desirable for more detailed patient
data to be exchanged between the data depositor and the data requester.
§Level 1 - Undertaking matchmaking based on Human Phenotype Ontology (HPO) terms
and/or candidate gene names: At this level, consent to data sharing and queries involving
colleagues or other health professionals may not be required for consultation withcolleagues working within the same healthcare service or specialty as consultation is partof medical care (but this is dependent on local jurisdiction). However, patients may
expect to be informed where consultation involves international interaction. Submissionof data that come from a research setting may require additional consent if this is beyond
the scope of the original data use allowances.

§

Examples of Level 1 data include:•Structured phenotype description - as a disease name (OMIM or Orphanet e.g.
Charcot-Marie-Tooth disease) or by using structured phenotypic terms (e.g. HPOterms). Clinical judgment should be used to assess the potential for reidentification and possible harm depending on the level of phenotypic detailprovided.

•Human Genome Organisation (HUGO) Gene Nomenclature Committee (HGNC)
approved gene names - for the suspected or candidate pathogenic loci.

§In summary, for matching (i.e., data sharing) Level 1 data:• In a clinical setting: no additional consent (beyond consent to clinical care) willusually be required, but this will depend on local jurisdiction and notification of
the patient should always be considered.
• In a research setting: consent to data sharing may be required. Follow yourlocal/national research ethics guidelines.

§Level 2 - Undertaking matchmaking based on unique or sensitive phenotypic information
and/or DNA or protein sequence level information including genomic variant datasets: At
this level, consent to data sharing is required in both the clinical and research settings.

§

Examples of Level 2 data include:
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Detailed phenotype descriptions or sets of terms detailed enough to raise concern
for uniquely identifying a patient or containing highly sensitive medicalinformation. Pooling sources of data and removing some phenotype information
based on its sensitivity could minimize the risk of possible re-identification.

•Genomic variant datasets - including one or more variants (irrespective ofsuspected etiologic role), with or without related information such as variant
class, amino-acid alteration, variant location, affected exon, etc.

Since use of this level of information in data discovery implies a possible risk of reidentification and harm, such use requires appropriate patient consent to data sharing.	  
Subsequent exchange of this level of information between depositor and requester (i.e.,
data	   sharing) likewise requires consent. However, an ethics committee may decide thatthe consent for matching and subsequent sharing of level 2 data is included within
existing research consent where already provided for in the inclusion of data in an openor registered access database whose declared purpose involves data sharing for purposesconsistent with matchmaking.

The following section of this document provides further practical guidance on the MatchmakerExchange (MME) Tiered Consent Policy, including Points and information to include forconsent to data sharing via MME (see p.3, MME Tiered Consent Policy – GuidanceDocument).
A more in-depth discussion of the ethical-legal consent considerations for MME is available inthe following publication:Stephanie O.M. Dyke, Bartha M. Knoppers, Ada Hamosh, Matthew Hurles, Helen V. Firth,Michael Brudno, Kym M. Boycott, Anthony A. Philippakis, Heidi L. Rehm. “Matching”
Consent to Purpose: the example of the Matchmaker Exchange. Human Mutation
https://doi.org/10.1002/humu.23278

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MME Tiered Consent Policy – Guidance Document
This guidance aims to further clarify the Matchmaker Exchange (MME) Tiered Policy.
A. Summary diagram

Figure from Dyke et al. https://doi.org/10.1002/humu.23278

B. Points and information to include for consent to data sharing via MME
Here are points to consider and information to include when preparing consent materials fordata sharing via MME (based on the Global Alliance for Genomics and Health Consent Policy,
available at: https://genomicsandhealth.org/files/public/Consent Policy %28Final - 27 May
2015%29.pdf)•It should be clear in any consent materials, and in discussions with data donors regarding
consent, that genomic and health-related data (including data from the medical record)
may be shared internationally and used by many clinicians and researchers to try to better
understand rare diseases. Consent materials should specify how confidential data will beprotected, such as through coding in accordance with applicable laws and/or guidelines.

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Consent materials should specify that commercialization of discoveries may occur in thefuture as a result of the development of products, tests, devices, etc.

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Consent materials must specify how data donors can withdraw from the sharing ofclinical or research data, but state that if data have already been shared it may be
impossible to retrieve and/or destroy that data.

C. For more information
Contact: Dr. Stephanie Dyke (stephanie.dyke@mcgill.ca)

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