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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Published on: June 15, 2011

Horizon scanning for new genomic tests.

Marta Gwinn¹, Daurice A Grossniklaus, Wei Yu

¹McKing Consulting Corporation, Atlanta, Georgia, USA. mgwinn@cdc.gov

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|January 15, 2011

Summary

Systematic internet surveillance effectively identifies new genomic tests, aiding in tracking their development and availability. This approach enhances the evaluation of emerging genomic applications for various stakeholders.

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Area of Science:

Genomic Medicine
Bioinformatics
Health Services Research

Background:

The landscape of health-related genomic test development is fragmented, involving diverse entities.
Tracking the status (development, availability, discontinuation) of these tests is challenging.
A systematic method is needed to monitor new genomic tests.

Purpose of the Study:

To develop and evaluate a systematic approach for identifying new health-related genomic tests online.
To assess the utility of internet surveillance for genomic test tracking.

Main Methods:

Utilized targeted internet queries (Web pages, news, blogs) via Google Alerts for test identification.
Established search and review protocols through a pilot phase ending March 2010.
Implemented daily queries and weekly compilations, indexing data in the Genomic Applications in Practice and Prevention Finder database.

Main Results:

Detected approximately 2-3 new genomic tests weekly post-pilot phase.
Cancer-related tests constituted the majority (65%), with hereditary disorder tests being rare (6%).
47% of identified tests were commercially available, including direct-to-consumer options, but only 6% had FDA licensure.

Conclusions:

Systematic internet surveillance offers valuable insights into genomic test development and availability.
This information complements other resources for comprehensive genomic test evaluation.
The Genomic Applications in Practice and Prevention Finder improves accessibility of this data for stakeholders.