Topics to consider prior to own DNA sequencing. Each area requires thoughtful analysis by the client and the primary treating physician.
Please go to the above PROCEDURE tab to go to main site for educational content that Merogenomics recommends prior to purchase of any DNA test.
Step 1.3: Educate yourself
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.
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.
Please book your consultation meeting with Merogenomics below using the “Start testing” link.
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.
Merogenomics Inc. recommends two genetic counseling sessions for clients who have their genomes sequenced. The first session should take place before the genome sequencing procedure; this session informs the client about the purpose of the test and its expectations. The second counseling session should follow the genome sequencing procedure and assists the client in interpreting the results of the test.
Pretest Genetic Counseling
An important function of pretest genetic counseling is to prepare the client for the possibility of incidental findings in the genome sequence and the potential psychosocial impact of such findings. Pretest genetic counseling will entail a discussion of family medical history and disease inheritance (if applicable). The counselor will point out the limitations of the genome sequencing procedure, including error rates and the need for validation of any significant findings. The counselor will explain the significance of informed consent and describe how the results of sequencing can be used for diagnostic purposes for the benefit of the client and for research that could benefit the community.
Posttest Genetic Counseling
In posttest counseling, the client can expect an analysis and interpretation of any pathogenic results that might have been uncovered. Available management resources for individuals at risk of genetic disease (including access to support groups and educational material) will be proposed. A discussion of disease risk in the context of the subject’s immediate family (including the importance of sharing the results with at risk relatives) and the potential psychological implications of such disease risk will be undertaken. The potential impact of pathogenic variants (if they have been uncovered) on future reproductive decisions will be addressed.
Merogenomics Inc. can provide access to a genetic counselor for a fee.
Counseling is provided by telephone or video; both methods have been shown to be practical alternatives to traditional face-to-face counseling. Counseling session is billed per one hour time slots.
Relationship Between Genetic Counselor and Physician
Genetic counseling is an independent service and is not included in what the ordering physician provides to the client. The ordering physician's role is to:
- Properly accumulate evidence in favour of DNA testing, such as family and personal medical history, and then to order the test for the client by filling in and signing the test requisition form
- Receive the DNA test results on behalf of the client/patient and deliver the results to the client/patient in the context of their medical history
- Develop a medical management plan in the context of considering one’s existing medical history and their DNA test findings
- Send the client/patient to a genetic counselor (if DNA testing is obtained privately outside of healthcare system, this option might not be available and the client/patient will have to seek independent access to genetic counseling)
- Adapt a medical management plan based on the genetic counselor’s report
A genetic counselor will play very different role from the physician and will be able to address the DNA test results for the following purposes:
- To inform the patient/client about the risk of disease development and potential outcomes, along with determining the risk of inheritance by future generations
- Assess the proposed medical management by the ordering physician for an appropriate fit to a given condition
If pathogenic or likely pathogenic variants are reported to the physicians, all physicians should require their patients to see a genetic counselor. This is also true if a couple planning to have children discover they are carriers of mutations in the same genes which are linked to disease development.
Pharmacogenetic information might also need a genetic counselor’s oversight for certain niche medical specialties such as cancer, or neurological conditions.
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.
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