The Personal Exomes Project - Participate
Information for participants of the personal exome project for the identification of genetic sequence variants
Dear study participant,
Exome sequencing is an effective diagnostic method for identifying rare, disease-causing variants in genetic disorders. The challenge is to discriminate sequence variants that are medically relevant from those that are without clinical impact in a patient. Many monogenic diseases are almost completely penetrant. This means that such disease-causing genotypes will hardly occur in the healthy population. Homozygous sequence variants identified in some unrelated, healthy adults are therefore most likely not the cause of recessive, fully penetrant, early onset genetic disorders and heterozygous sequence variants are not the cause of dominant, fully penetrant, early onset genetic disorders. However, knowing that these variants are not disease-causing, may be crucial for the identification of disease-relevant mutations, since these variants can be filtered out when sequence variants of a patient are analyzed.
Your participation in this study will help to establish a database of genetic sequence variants that is similar to the other large population studies as e.g. the 1000 genomes project or the 6500 exomes project. We will count how often a certain genotype is observed in all participants of GeneTalks personal exome project (PEP). We will release and updated a collapsed genotype frequency vector whenever there are ten new participants in the PEP. This genotype frequency vector of healthy individuals will be freely accessible for the scientific community on the platform GeneTalk. While we willy release only the genotype frequencies in a collapsed manner to reduce data abuse, it's up to you to share your whole data with other GeneTalk users.
To improve the classification of variant annotations in GeneTalk, we also count on your expertise! This means we would greatly appreciate if you participate actively in rating the medical relevance and scientific evidence of sequence variants and contribute your expert knowledge. You should filter your own exome with a five star rating for medical relevance and a one star rating for scientific evidence in GeneTalks annotation filter. All mutations that will pass this filter would have the current rating disease causing for a rare genetic disorder that is linked to in the annotation view. As you are not affected by this disease, you should reduce the rating for medical relevance. You should leave a comment for this annotation so that other users may benefit from your assessment. We will also organize personal exome workshops to discuss the findings of your exomes analysis.
For this study human genetic material (DNA) will be isolated from a saliva sample. Personal data (name, date of birth, address) and molecular genetic data (deducting genetic information, results of sequencing) collected within this study will be encrypted (pseudonymized) and digitally stored separately by Gene Talk, Berlin. The physician and principal investigator Dr. Peter Krawitz is responsible for data processing. The data collected within the study will not be disclosed to third parties and are only accessible by physicians and the participant of the study. The DNA will be stored for the duration of the study. The results of the study will be used in anonymized form for publications in scientific journals.
Participation in the study is free of charge. For the donation of the saliva sample participants do not receive any reward or payments. Participants agree that there are no claims for compensation, bonus or other benefits and participation in financial gains that may be achieved on the basis of this study and followed research.
You have the right to request all information from the principal investigator about any existing personal data that is obtained during the study. Consent to the use the DNA sample may be revoked at any time and without giving reasons. In case of cancellation, the DNA sample can be stored for control purposes. However, the participant has the right to demand its destruction.
We would like to point out that molecular genetic studies can take a long time, therefore results are not likely to be expected six months after the sample collection.
Participation in this study is completely voluntary. A withdrawal of consent is possible at any time and without notice. In case of revocation of the consent of all relevant personal data and the samples will be destroyed. We declare that the collected samples are purely for scientific investigations. They are not used for commercial purposes, which excludes the patenting and sale of genetic data.
If you need any further assistance or have any queries regarding the study, please do not hesitate to contact firstname.lastname@example.org