State: archived
Ladies and gentlemen,
thank you for your interest in the GestaltMatcher research study and database (GMDB)! Your participation is entirely voluntary. Before you proceed with providing us with any data/photographs/further information, please make sure that you have read the following study information and provide the necessary consent.
You/your child have/has (or is suspected of having) a genetic disorder. In order to reach a differential diagnosis, phenotypic features, e.g. a specific gestalt of the face, can provide important information. Computer-assisted methods of image analysis are increasingly being used to assess medical photography. These next-generation phenotyping (NGP) approaches are used to identify patterns on the basis of photographs and calculate similarities to individuals with already confirmed genetic disorders. NGP can provide a physician with supporting evidence for a genetic disorder and guidance on selecting a specific molecular test. NGP can also be used for interpreting the results of molecular genetic investigations.
In our research study, the quality of the currently available image analysis methods (e. g. GestaltMatcher) will be investigated. Furthermore, we will also investigate whether a new protocol for evaluating mutations, called PEDIA (prioritization of exome data by image analysis) will improve the diagnostic yield.
If our research study shows that NGP can help to find the right diagnosis more quickly, unnecessary examinations can be avoided in the future and patients will receive appropriate medical care earlier for their specific disease. Our study aims at improving the diagnosis of genetic diseases and will also contribute to their successful treatment in the long term. However, participation in this project is unlikely to have any direct therapeutic benefit for you.
Within the routine diagnostic workup, the clinical features are documented by means of photos and medical genetic terminology. These phenotypic characteristics, medical photography, and test results, if available, are sent to us by you or your doctor in pseudonymized form. Pseudonymization means that regular users of the platform do not know the name or address of the study participant. The clinical data can only be assigned to a person by means of a token, which is an alphanumeric code, that is available only to you and the submitting clinician. All data from the research study will be stored on a server at the Institute of Genomic Statistics and Bioinformatics (IGSB) in Bonn, Germany, which complies with current data protection regulations. We intend to publish the results of this research project in scientific journals and at conferences. These publications will not contain any personal information that allows you to be identified. Participation in the study is free, and there is no entitlement to remuneration, other financial benefits or profits which may be obtained on the basis of this research.
I have read the study information material about GestaltMatcher and PEDIA, or it has been read to me. I have had the opportunity to ask questions about it and any questions that I have asked were answered to my satisfaction. I consent voluntarily [for my child] to participate in this research. I have been informed that I can withdraw my consent at any time and without giving reasons. In the event of a revocation of consent, all attributable data will be deleted, and this decision will not affect me negatively in any way.
I consent for these photographs to be stored in GMDB, and be used in medical publications, including medical journals, textbooks, and electronic publications. I understand that the images may be seen by any user of the platform, that is medical professionals and scientists. Although these photographs will be used without identifying information, such as my name, I understand that it is possible that someone may recognize me or my child. I also agree for my images to be shown for training purposes of human and artificial intelligence. This includes education of medical students and residents, as well as machine learning.
If you have any further questions, don't hesitate to contact us: info@gestaltmatcher.org