GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

Kirkpatrick, Brianne; Riggs, Erin Rooney; Azzariti, Danielle R.; Miller, Vanessa Rangel; Ledbetter, David H.; Miller, David T.; Rehm, Heidi L.; Martin, Christa Lese; Faucett, W. Andrew

doi:10.1002/humu.22838

Cited by 60 publications

(54 citation statements)

References 14 publications

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“…In summary, this paper provides an overview of the MME, from its founding principles and goals to the steps required to launch it as a robust platform for rare disease discovery. The ensuing papers in this special issue of Human Mutation define many of the individual matchmaker services already connected [Buske, et al., a; Chatzimichali et al., ; Sobreira et al., ), or intending to connect to the federated network [Lancaster et al., 2015; Kirkpatrick et al., ; Lambertson et al., ; Mungall et al., ], as well as other core components [Buske et al., b] and concepts [Akle et al., ; Krawitz et al, ] that support genomic matchmaking. A few case examples of discoveries already made through use of matchmaking approaches are highlighted to add further support for this robust approach to rare disease gene discovery [Au et al., ; Jurgens et al., ; Loucks et al., ].…”

Section: Discussionmentioning

confidence: 99%

“…There are already examples of patients who have played such roles in identifying causes of rare disease [Lambertson et al., ] and the MME intends to better support their efforts. Two manuscripts in this special issue describe how patients themselves have taken an interest in matchmaking and are creating their own systems both within and apart from the MME [Kirkpatrick et al., , Lambertson et al., ].…”

Section: Introductionmentioning

confidence: 99%

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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

et al. 2015

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There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for “the needle in a haystack” to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many small siloed datasets within individual research or clinical laboratory databases and/or disease-specific organizations, hoping for serendipitous occasions when two distant investigators happen to learn they have a rare phenotype in common and can “match” these cases to build evidence for causality. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API). The core building blocks of the MME have been defined and assembled. Three MME services have now been connected through the API and are available for community use. Additional databases that support internal matching are anticipated to join the MME network as it continues to grow.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

et al. 2015

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“…G e n o m e C o n n e c t ( w w w. genomeconnect.org), a web-based patient registry created as part of the NIH-funded Clinical Genome Resource to promote patient-centric data sharing of genotype and phenotype information, is open to anyone who has undergone genetic testing, is considering genetic testing, or is a family member (i.e. parent) of someone who has had testing, regardless of genetic testing results or diagnosis (Kirkpatrick et al, 2015). The majority of GenomeConnect participants have indicated that they or their child underwent genetic testing because they had symptoms of a genetic condition, had a family member with a genetic condition, or their doctor wished to confirm a diagnosis.…”

Section: Participantsmentioning

confidence: 99%

Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics‐Based Communities

Rocha¹,

Savatt²,

Riggs

et al. 2017

Journal of Genetic Counseling

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Patients with newly-described or rare genetic findings are turning to social media to find and connect with others. Blogs, Facebook groups, and Twitter have all been reported as tools for patients to connect with one another. However, the preferences for social media use and privacy among patients, their families, and these communities have not been well characterized. To explore preferences about privacy and membership guidelines, an online survey was administered to two web-based patient registries, Simons Variation in Individuals Project ( www.simonsvipconnect.org ) and GenomeConnect ( www.genomeconnect.org ). Over a three-month period, invitations were sent to 2524 individuals and 103 responses (4%) were received and analyzed. Responses indicate that Facebook is the most popular resource accessed within this sample population (99%). Participants used social media to look for information about their diagnosis or test results (83%), read posts from rare disease groups or organizations (73%), participate in conversations about their diagnosis (67%), and connect with others to find support (58%). Focusing on privacy issues in social media, respondents indicate that membership and access impact the level of comfort in sharing personal or medical information. Nearly 60% of respondents felt uncomfortable sharing photos or medical information within a public Facebook group, whereas only 12% of respondents felt uncomfortable sharing in private group targeted to families alone. Using this preliminary data concerning social media use and privacy, we developed points for genetic counselors to incorporate when discussing available support resources for patients with a new, or rare, genetic diagnosis or genetic test result. Genetic counselors are trained to provide anticipatory guidance to families adapting to new genetic information, and are well-equipped to help patients consider their preferences about using social media as a source of information and support.

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“…In addition to regulatory, ethical, and legal considerations, frameworks from professional bodies have been constructed to guide experienced clinicians in their interpretation and reporting of genomic information (39,40). Data-sharing efforts by researchers and providers of clinical genetic testing are increasing the body of knowledge for specific genes and variants, information that is fundamental to the process of interpreting genetic variation in an informed clinical context (41,42). …”

Section: Current Methods In Genome Sequencingmentioning

confidence: 99%

A primer to clinical genome sequencing

Priest

2017

Current Opinion in Pediatrics

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Purpose of review Genome sequencing is now available as a clinical diagnostic test. There is a significant knowledge and translation gap for non-genetic specialists of the processes necessary to generate and interpret clinical genome sequencing. The purpose of this review is to provide a primer on contemporary clinical genome sequencing for non-genetic specialists describing the human genome project, current techniques and applications in genome sequencing, limitations of current technology, and techniques on the horizon. Recent Findings As currently implemented, genome sequencing compares short pieces of an individual’s genome to a reference sequence developed by the human genome project. Genome sequencing may be used for obtaining timely diagnostic information, cancer pharmacogenomics, or in clinical cases when previous genetic testing has not revealed a clear diagnosis. At present, the implementation of clinical genome sequencing is limited by the availability of clinicians qualified for interpretation, and current techniques in used clinical testing do not detect all types of genetic variation present in a single genome. Summary Clinicians considering a genetic diagnosis have wide array of testing choices which now includes genome sequencing. Though not a comprehensive test in its current form, genome sequencing offers more information than gene-panel or exome sequencing and has the potential to replace targeted single-gene or gene-panel testing in many clinical scenarios.

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GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

Cited by 60 publications

References 14 publications

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics‐Based Communities

A primer to clinical genome sequencing

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