What to Consider Before Genome Sequencing Procedure

Become Familiar with Genome Sequencing Concepts

Studies indicate that the general public can be misinformed about the clinical utility and the accuracy of disease risk prediction of direct-to-consumer genomic testing. The public over emphasizes the importance of genetics in health and disease, and under emphasizes the significance of environmental and lifestyle factors. The misconception that the genome is the cause of all biological conditions can lend genetic information a higher impact than it deserves in some cases. The client runs a risk of misunderstanding the meaning of the genome sequence and its interpretation in the Analysis Report. Merogenomics Inc. attempts to allay misconceptions with the educational content provided, and recommends genetic counseling prior and after the genome sequencing procedure.

Communication with Family Members

Information received from a genome sequence could have important consequences to the subject’s blood-related family members. Therefore, Merogenomics Inc. encourages the client to discuss the decision to sequence a genome with family members who have a close genetic relationship with the subject (parents, siblings, offspring) as they will be the most impacted by the information provided. The client should discuss with the immediate family the potential risks, including the possibility that other family members can be affected by the information derived from the subject’s genome. In turn, members of the subject’s family can benefit if the genome sequencing reveals a serious condition that requires that relatives of the subject be tested to determine who else might be at risk. Family members should be aware of the potential hazards of disclosure of genetic information either privately or to a public domain—including theft of such information—and that not all hazards can be anticipated.

Merogenomics Inc. recognises the value of long term multigenerational storage of genomic information in the family for the superior improvement in the medical care of future generations. Therefore each client should also consider how the data generated from the subject’s genome sequence should be handled long term, including after he or she has passed on. Merogenomics Inc. considers genomic data extremely valuable, and inheritance of such data from one generation to another of important significance. Related to this is a consideration of any other data recipients besides the client. Details regarding a next of kin recipient of the genome sequencing results can be provided by the client in case the client is unavailable to receive the results or in the event of client death. The chosen next of kin recipient must be aware of the genome sequencing procedure undertaken by the subject and must be aware that the results of the test could implicate the health of related individuals; therefore, the next of kin recipient is required to sign a consent form.

Merogenomics Inc. suggests that the client review topics on family communication of genetic information at the Merogenomics Inc. website and elsewhere. We believe that these considerations should not be left till the results of a genome sequencing procedure are received.

In-Person Interview

Each prospective client will have an opportunity to have an in-person interview via Skype with Merogenomics Inc. representative Dr. Mikolaj Raszek free of charge for a duration of 30 minutes to answer questions regarding the genome sequencing procedure. This should not be viewed as a genomic counseling session. Once the agreement with Merogenomics Inc. is signed by the client, an additional 30 minute in-person interview will be scheduled to confirm that the client is familiar with the genome sequencing procedure protocols, to confirm the identity of the client (and that of the subject if the subject is different from the client), to confirm the accuracy of the personal trait data (if applicable), and to provide an opportunity for the client to ask questions.

Additional Participants Consideration

  • Identical (monozygotic) twin consent obligation

Identical twins share the same DNA sequence, therefore, information obtained by genome sequencing reveals private information of more than one individual. If the subject has a living sibling who is an identical (monozygotic) twin, then the consent of the twin is required for the genome sequencing procedure.

  • Next of kin recipient consideration

Details regarding a next of kin recipient of the genome sequencing results can be provided by the client in case the client is unavailable to receive the results or in the event of client death. The chosen next of kin recipient must be aware of the genome sequencing procedure undertaken by the subject and must be aware that the results of the test could implicate the health of related individuals; therefore, the next of kin recipient is required to sign a consent form.

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 prior to whole genome sequencing, an assessment of the client’s psychological risk factors to measure the potential impact of the genome sequencing results on the well-being of the client. This part of the assessment can identify high-risk individuals who might not handle negative information—for example, the revelation of an untreatable condition—with equanimity. The questions give the client an opportunity to evaluate his or her temperament and encourage the client to build an appropriate support network. This part of the Safety Assessment Questionnaire allows clients to choose data analysis preferences and helps them to decide whether they should take the genome sequencing procedure.

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.

Consider Alternatives to the Genome Sequencing Procedure

A prospective client should be aware that alternatives to whole genome sequencing exist that might fulfil his or her purpose with less expense of time and money and less risk of loss of privacy. Although the list is not exhaustive, several options are presented below.

Professional medical advice

Knowledge of direct-to-consumer genetic and genomic tests is continuously increasing among health care practitioners. Many licenced health care providers are equipped to provide suitable advice, especially in the context of available medical records, or to direct you to an appropriately trained specialist. An alternative would be to contact a genetic counselor.

Genotyping test

Genotyping tests are available direct-to-consumer or via medical care. Such tests screen for thousands of variants at precise locations along the genome. As only a fraction of the genome is analyzed (only the most informative type of variants are sought), genotyping tests can be provided at a much lower cost than whole genome sequencing.

Specific gene panel test

Genes known to be involved in specific health conditions can be tested, for example, genes involved in cancer development. Such tests are typically offered in a clinical setting when dealing with the diagnosis of specific diseases.

Exome sequencing

Exome sequencing is similar to whole genome sequencing, except that it targets the portion of the genome that codes for proteins. The exome comprises of only 1–2% of the whole genome, therefore exome sequencing is a cheaper option than whole genome sequencing, and the vast majority of all disease causing variants are found in the exome.

Paternity and ancestry kits

Low cost alternatives are publically available for individuals who are not interested in the potential medical benefits of genome sequencing but are curious about other advantages of such technology, such as identification of paternity status, or ancestral heritage.

In addition, alternative whole genome sequencing companies exist with specific appeal to individual needs. An individual can also obtain whole genome sequencing within a clinical setting. This option is recommended for a person with an undiagnosed disease because of the professional care and diligence that is offered in such a setting.



Topics to consider prior to own DNA sequencing. Each area requires thoughtful analysis by the client and the primary treating physician.


Related Information:

Advantages and Limitations of Genome Sequencing 

Procedure Overview

Action After Procedure Completion

Genomic Education

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