Considerations Before Genome Sequencing

Merogenomics image on patient Informed Consent

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


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 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 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 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 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 may also be required by the service provider to sign a consent form.

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


In-Person Interview

Merogenomics stresses the importance of client informed consent and therefore interaction with a representative is required prior to any DNA test purchase. An individual interested in any of the DNA tests endorsed by Merogenomics will have an opportunity to have a complimentary 30-minute interview with a Merogenomics representative in person in order to answer questions regarding genome sequencing or any other DNA testing procedure. This should not be viewed as a genomic counseling session, and Merogenomics highly recommends that potential clients participate in a pre-test genetic counseling session after meeting with Merogenomics.

Following the signing of the test requisition form by both the ordering physician and 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 additional questions.

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Communication with the Family Doctor

All DNA tests endorsed by Merogenomics require a test requisition form to be signed by a treating physician. The ordering physician will be the recipient of the DNA test results (the Analysis Report and the digital genome sequence), which are then communicated to the client. Therefore, the client has to choose the doctor who will be involved in the DNA test for the receipt of the results, and communicate their desire for a given test to that individual.

When meeting with a prospective ordering physician, the client should communicate information about what the test involves, the reasons behind the test, what type of information the test can provide to the doctor and how that information could benefit the doctor’s oversight of patient management. What the expected role of the doctor would be during the testing process should also be outlined.

Not every physician will be willing to sign the test requisition form and participate in the genomic medicine process. However, if a client finds themselves in such circumstances, Merogenomics can help the client connect with a local physician who is already practicing, or at least familiar with, the provision of genomic medicine.


Additional Participants Consideration

The client has an option to inform the service providers of the DNA testing about any additional recipient(s) of the test subject’s results data if they desire. In some circumstances this might be mandatory.

  • Identical (monozygotic) twin consent obligation

The mandatory recipient of the data could include a test subject’s identical twin. Identical twins share identical DNA between them and thus the DNA analysis of one twin will automatically inform about the DNA code and its potential health effects for the other twin. In such circumstances, identical twins should make the decision together about access rights to such information, as well as what type of information will be shared or divulged to them. A person who has an identical twin might also be required to provide a consent form from their twin as well in order for the DNA testing procedure to take place.

  • Next of kin recipient consideration

Additional recipients of the DNA test results that the client could consider granting access to may be other family members, in case the client is not able to receive the results themselves in the event of an unforeseen occurrence. Another important reason for this consideration is that the genomic data can provide the benefits of interpretation long after the passing of the subject of the test, potentially for multiple generations of descendants, and therefore it should be determined who will be inheriting the genomic data management. Due to the personal nature of DNA test results, and the currently unknown potential future risks associated with access to personal genomic information, the client should consider carefully who should be allowed to access such data.

  • Treating physicians

Finally, the client can also consider including additional doctors who are involved in their personal health care to be the recipients of the DNA test results to aid in their medical management of the client. Merogenomics recommends informing the other physicians involved in a client’s medical management of either the expected production of DNA data and analysis, or that such data is already available for access.

If the decision is made prior to testing, the additional recipients of the results can be added to the test requisition form.


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 publicly or privately available 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 privately 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.


Additional Products

  • genome sequencing
  • genomic counseling
  • digital biobank storage


Related Information

Types of Genome Sequencing Procedures

DNA Tests for Health Risks

Undiagnosed Diseases DNA Tests

Cancer DNA Tests

Prenatal DNA Tests

Genomic Education

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