An article by Dyke et al. in Human Mutation discusses consent considerations and the resulting consent guidelines established by the Matchmaker Exchange (MME).
The Matchmaker Exchange (MME) was created to aid in the discovery of the causes of rare diseases through sharing of data from exome and genome sequencing performed in research and clinical care. The vast majority of patients still lack a clear diagnosis after initial analysis, but finding additional patients from across the world with a mutation on the same gene and exhibiting similar clinical manifestations can provide sufficient evidence to establish a diagnosis. To connect previously isolated effort, the MME was launched in 2013 to facilitate the identification of new disease genes through the international sharing of patients’ genetic and clinical data.
One of the major issues confronted by the MME was to understand the consent requirements for such data sharing. A number of aspects were challenging to establish guidelines for patients’ consent.
1- The projects using MME are generally large data sharing initiatives that span across countries with different regulatory requirements. For instance, the matchmakers currently connected through MME are located in four countries: GeneMatcher, myGene2 and matchbox are all three located in US, PhenomeCentral in Canada, Patient Archive in Australia and DECIPHER in the UK.
2- MME bridges both clinical care and research. One of the main differences between these two spheres is that while consent for clinical care is usually implied in the act of seeking care, research consent typically relies on written consent materials as a demonstration of proper awareness and agreement to a specific project.
3- MME data exchange occurs at two distinct data levels: Level 1 for matchmaking based on sharing candidate genes and clinical features, and Level 2 for matchmaking based on more detailed phenotypic information and/or DNA or protein sequence information including genomic variant datasets. These two data levels present different amounts of privacy risk for individuals, which also inform MME consent policy.
As MME bridges clinical care and research, the need for consent to share data in the MME depends on the context and objectives of the matching and on the potential harm introduced by sharing re-identifying information for matchmaking (see figure). Members of the MME drew up guidance on the content of consents materials for services participating in MME (based on Global Alliance for Genomics and Health Consent Policy).
For more details, read the full article.