Everyday more than 7,000 patients receive a genetic test to evaluate their DNA for disease causing genetic variants (aka mutations). Only a small fraction of genetic variants cause disease. With the ever-expanding number of genes included in clinical tests, it has become more challenging to clinically interpret these patients’ genetic variants than it is to detect them.
The over-interpretation of genetic variants can lead to false positive results, which may result in unnecessary surgeries, ineffective medications, and sometimes erroneous family planning decisions. Often the over-interpretation of genetic variants arise from erroneous conclusions made in the published research literature. Careful and critical reading of the research literature can tease out which research conclusions can be used in the clinical setting, and which cannot. However, the sheer volume of existing and emerging research literature, combined with the time and cost constraints inherent in clinical genetic testing, have made “careful and critical” reading of all of the relevant research literature for each genetic variant an unsolvable challenge for many laboratories. This, in turn, may impact the quality of variant classifications, and the frequency and quality of variant reclassifications. Machine reading, machine learning, and other artificial intelligence technologies, are not yet sufficient to fill this gap.
While laboratory scientists struggle to keep current with the research literature, more and more patients and their advocates have begun to research their own genes of interest in the primary research literature. Also, many university professors actively search for student opportunities to engage in experiential learning. Thus, CGI’s FiNDiTALL initiative matches the personal research interests of patient advocacy communities and the educational opportunities for university students and faculty with the needs of the clinical genetics community. Ultimately, this provides more accurate clinical results to genetics patients.
The Synergistic Solution
The Center for Genomic Interpretation’s FiNDiTALL initiative is a global crowdsource platform which facilitates the identification and data extraction of relevant gene, disease and variant literature for just-in-time variant literature curation (a.k.a. on-the-fly), as well as literature precuration projects needed for laboratories. FiNDiTALL utilizes the abilities of nonspecialist individuals to read and extract data from genetic literature, overlaid with stringent quality control measures to ensure accuracy. FiNDiTALL actively leverages co-opetition technologies to continue to engage participants, and provides feedback to participants so they can learn the skills of critical scientific evaluation as they continue to engage with FiNDiTALL. Peer review authorship opportunities are provided for significant FiNDiTALL contributors.
To Get Involved
To learn more about FiNDiTALL and to get involved through participation or financial sponsorship, please contact CGI at firstname.lastname@example.org.