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Hum Mutat. 2015 Oct;36(10):965-73. doi: 10.1002/humu.22852. Epub 2015 Aug 27.

Participant-driven matchmaking in the genomic era.

Author information

1
Genetic Alliance, Washington, District of Columbia.
2
Mission Massimo Foundation, Inc., Elsternwick, Victoria, Australia.
3
Mission Massimo Foundation, Inc., Westlake Village, California.
4
NGLY1.org, Salt Lake City, Utah.
5
University of Utah, Salt Lake City, Utah, United States.
6
Private Access, Irvine, California.
7
PXE International, Inc, Washington, District of Columbia.

Abstract

Whole-genome and whole-exome sequencing are increasingly useful diagnostic tools for novel monogenic conditions. In order to confirm diagnoses made using these technologies, genomic matchmaking-the matching of cases with similar phenotypic and/or genotypic profiles, to narrow the number of candidate genes or ascertain a condition's etiology with greater certainty-is essential. Yet, due to current limitations on the size of matchmaking networks and data sets available to support them, identifying a match can be difficult. We argue that matchmaking efforts led by affected individuals and their families-participant-led efforts-offer a twofold solution to this need, in that participants both have the capacity to access larger networks and to provide more detailed sets of phenotypic and genotypic data. These features of participant-led efforts have the potential to increase the value of matchmaking networks, both in terms of number of matches and in terms of the overall energy of the network. We provide two examples of participant-led matchmaking, and propose a model for scaling these efforts.

KEYWORDS:

Matchmaker Exchange; citizen science; patient-led matchmaking; rare-disease diagnostics; registries; whole-exome sequencing; whole-genome sequencing

PMID:
26252162
DOI:
10.1002/humu.22852
[Indexed for MEDLINE]

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