Center for Genomic Interpretation

The Organization shall, through interactions and outreach with patients, clinicians, genetics laboratories, genetics advocacy groups, academic institutions, and the general public, advance the science and application of genetic variant classification and educate the public on the current scientific status of clinical genetics and the need for improvement in the methods by which clinical genetic diagnoses are determined. Our interaction with the general public through our citizen science efforts, will educate the general population on the science of genetics and genetic variant classification, and will provide a novel and disruptive mechanism toward the classification of genetic variants. Specific activities that will accomplish these ends are the deposit of clinical genetic variant classifications into publicly funded and publicly available database repositories, the transparent publication of variant classification methods and conclusions in peer-reviewed scientific journals, and the involvement of crowdsourcing efforts, all of which will educate the general public and the academic community and increase the awareness of the need for increased quality in clinical genetics.