Receipt of Data
Genomic information generated from sequencing and data analysis is for private (client) use, will be kept confidential until delivered to the client, and will not be divulged to any public body, database, or institution unless the disclosure is requested by the client. When the genome sequencing data are available for client receipt, the client will be asked to create a personal password and will be provided a link for data download from a secure portal.
Once it is confirmed that the subject's genome sequence and the Analysis Report based on it has been downloaded by the client, these data will be deleted within two weeks (14 days) by Merogenomics Inc. and by associated third parties involved in the data generation. Long term storage can be achieved by storage at a secure digital genome repository.
For security reasons the client has a period of 30 days to accept the return of genome sequencing data and the Analysis Report from the moment of first contact informing the client that the data are available for upload. If no communication with the client is achieved, the next of kin will be contacted (that the client has provided contact of). If the client or the next of kin does not accept the test results within 30 days of first communication (to the client or the next of kin), the data and contact details will be permanently destroyed. In such case no refund will be dispensed for the services performed.
Only one Analysis Report is provided per client (with the exception of family based reports, see below). Merogenomics Inc. will not update or supplement the Analysis Report unless the client agrees to purchase a new one. A new Analysis Report is generated based on the DNA sequence data that were previously provided to the client. The client’s DNA sequence will be uploaded via secure website portal for the new Analysis Report.
Pathogenic Variants Verification
The data and information that are received by the client are for educational and research purposes only. For the obtained information to be medically meaningful to a healthcare provider, pathogenic variants that have been discovered as a result of genome sequencing need to be verified by a secondary technology. This ensures that the information obtained is real and not due to rare sequencing errors. The client can obtain pathogenic variant verification in one of the following ways:
- Pathogenic variant verification can be performed immediately in the laboratory where the genome sequence data were produced, using the same sample that was used for genome sequence data generation. This service is delivered only if it was prepurchased when the genome sequencing procedure was paid for
- If pathogenic variant verification was not prepurchased when the genome sequencing procedure was paid for, the client can request and pay for data verification within the time period that the tissue sample is maintained by the sequencing laboratory
- The client can send a new tissue sample to the laboratory where the genome sequence data were produced and request pathogenic variant verification, or the client can request pathogenic variant verification from another laboratory
- The client can discuss the available choices for pathogenic data verification with his or her healthcare provider
Communication with family members
If pathogenic variants with health risk consequences are discovered in an individual, such results are likely to have important implications for other family members. This provides an opportunity for other family members to undergo screening tests to determine who might be at risk, potentially bringing benefit to otherwise unsuspecting individuals. However, all information might not be welcomed by all relatives, and even if family members are open to sharing results, some information could be disruptive to their emotional well-being.
Communication with healthcare provider
After receiving genome sequence information, the client should share the results with a doctor prior to making any medical decisions or action. A doctor who is familiar with the client’s health history will ideally be in a position to integrate the genome sequence information with his or her personal medical history, the family medical history, and evaluate whether further examination is required to obtain supporting evidence of pathogenic mutations. Appropriate surveillance of or intervention with conditions revealed through genome sequencing should be considered only by a medical professional.
Safety Assessment Questionnaires
The client is asked to complete two online assessments, one prior to the genome sequencing procedure and one after the Analysis Report has been received by the client. Direct-to-consumer whole genome sequencing is relatively new and the potential psychological and social risks of participation are not fully known. Consequently, Merogenomics Inc. offers a Safety Assessment Questionnaire, an assessment of the client’s psychological risk factors measure the potential impact of the genome sequencing results on the well-being of the client. To uncover longer-term consequences of the genome sequencing procedure, a second Safety Assessment Questionnaire is filled out by the client three months after delivery of the Analysis Report. This part of the assessment can help determine steps that might avoid negative impacts on future clients.
Together, the assessment questionnaires inform the larger context of the genome sequencing impact on the population. The Safety Assessment Questionnaires are not mandatory. The client can forgo the questionnaires upon signing an agreement that he or she understands the risks associated with not taking the assessment, and bears full responsibility for such a decision (as part of the consent form signed prior to the genome sequencing procedure). The Safety Assessment Questionnaire will be provided via the Merogenomics Inc. website using client's password access.
The identity of the respondents to the Safety Assessment Questionnaires is confidential. Answers to the questions are used to assess whether the client is at risk for emotional distress. As the questionnaire is website-based, and without supervision of a qualified psychologist, it is used only as an additional tool to determine whether there is a safety concern, and to mitigate potential adverse reactions. Collected data may be used to alter the type of services offered by Merogenomics Inc., to influence company policies, or to modify the consent form for the purpose of risk management. Information gathered from the Safety Assessment Questionnaires may also be used to identify growing trends in the genome sequencing industry for public education.
Decision to Publish DNA Sequence Data
It is possible that the DNA data analysis will uncover novel information of value to the medical community. The client can decide whether to release the critical DNA sequence data to the public or keep it private. If the client elects to publish the subject’s DNA sequence data, the DNA sequence data plus any personal trait data that might be critical for interpretation of the DNA data will become available on a public website and database. The privacy of the client will continue to be protected. Information garnered from sequenced genomes allows scientists to ever more accurately interpret future human genomes.
Merogenomics Inc. recommends that a client seek the opinion of a licensed healthcare practitioner and/or a genetic counselor before deciding whether to publish data derived from the subject's genome sequence, and that only partial and relevant genome information is made available to the public in order to protect the identity of the client.
Data published to a public website or database will no longer be confidential. Depending on the scope of the published information, it is possible that a third party may discover the identity of the client. Generally, such identification could occur only by comparing published data with another source of data, for example, a biological sample obtained from the same individual. Therefore, Merogenomics Inc. recommends that genome sequence information be kept private unless a genuine public benefit (such as a variant that can be correlated to a specific diagnosis) can be identified.
The choice to publically disclose the DNA sequence data and other information associated with it, will result in its delivery to an openly available scientific website and database, and therefore make it accessible to third parties. Reproduction, analysis, or even modification of such information could then occur without consent from either the client or Merogenomics Inc. Therefore, Merogenomics Inc. recommends that when choosing to publicly disclose a subject’s genomic information for social benefits or any other reason, only information essential to the objective be released to protect anonymity.
Public disclosure of genetic and/or trait data associated with a subject’s personal identity could result in employment, insurance, or financial discrimination, and could negatively impact social interactions, including those between family members. Such disclosure could expose the subject and his or her family to media attention.
Public disclosure of a subject’s entire genome, even without access to personal identity, could result in genetic identity theft. Genetic identity theft could lead to:
- Real or fictional claims to family relation status from other individuals
- Impediments to employment status, insurability, education, health access, or financial services
- The planting of synthetic DNA at a crime scene
- The revelation of genetic information that was not desired to be known
The clients also needs to consider such potential implications in case the subject’s genomic or personal information is maliciously stolen during the whole genome sequencing procedure.
The risk (and its severity) of public disclosure (or theft) of the entire genome sequence data (or partial genome information in association with personal identity) cannot be predicted. Merogenomics Inc. encourages the client to discuss with his or her immediate family members the potential hazards of disclosure or theft and the fact that not all hazards can be anticipated.