Consent Form for Exome Sequencing in Gene Panel
Gene Panel analysis (EDT3)

Gene panel Exome Sequencing is a complex genetic test which aims to discover pathogenic variants in coding regions (exons) of genes associated with the specific clinical indications of the patient according to the OMIM® database.

I understand that this test may:

Detect one or more variants which constitute the partial or complete genetic cause of the disease for which I was referred.

Detect one or more variants which constitute the likely genetic cause of the disease for which I was referred, meaning likely pathogenic variants (Class 4) in genes possibly associated with the disease for which I was referred.

Detect one or more variants whose clinical significance cannot be determined with the current bibliographic and other data – Variants of Uncertain/Unknown Significance (VUS).

Not detect variants which constitute the genetic cause of the disease for which I was referred. Not identifying a variant does not exclude the possibility that the disease for which I was referred has a genetic etiology which was not detected in this test whether because it is located in a region (e.g intronic) not included in the analysis, or because it is a variant not detected by the methodology of the test (e.g large genomic rearrangements, trinucleotide repeat expansions etc.) or because it is located in a region which is not covered by a sufficient number of reads (~5% of the total exons) and therefore escapes analysis or it is located in a region where other quality parameters are not met, e.g regions with unbalanaced distribution of reads between alleles (strand bias) or it is a (likely) splicing variant which however is not recognized as such by the bioinformatics analysis platform Varsome Clinical which is used by our laboratory for the variant interpretation and therefore are ignored as findings and escape analysis.

I understand that I will not be informed about variants of uncertain significance except in specific cases according to the laboratory’s judgement and in agreement with the referring physician.  

I understand that variants of Uncertain Significance (VUS) which are not reported in the present analysis may be reported or reevaluated as likely pathogenic or pathogenic in a subsequent analysis if new clinical, phenotypic, scientific, or other data arise.

I understand that the variant interpretation is based on international literature and the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG guidelines). During the evaluation process the clinical information and the personal and family history provided to Access to Genome by me and/or the referring physician is used.

I understand that in order to complete the variant interpretation it is possible to suggest the supplementary testing of other family members (parents, siblings etc).

I understand that in rare occasions the interpretation of a variant can change in the future based on new scientific data, which could result in a pathogenic variant becoming benign or vise versa.

I understand that I will not be informed for any discrepancy in family relations (e.g non fatherhood, non motherhood). I understand that ATG holds the right to inform the referring physician for other incidental findings. In specific cases ATG and the referring physician hold the right to inform me for any incidental findings if that is considered useful for me or my family.

I understand that the Gene Panel Exome Sequencing, like any other medical test has limitations. These include the inability to cover a small percent (~5%) of the analyzed exons, the inability to detect large genomic rearrangements, intronic variants, trinucleotide repeat expansions etc.  

I understand that ATG will store my personal data, the results of the genetic analysis and my sample for a period of up to 2 years depending on the ability to store digital data and biologic specimens.

Please write your full name in capital letters and add your signature.  

Patients/Parent/Guardian:  

Full Name:  

ID card number:  

Signature:

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