Considerations After Genome Sequencing

This site explains potential options to be considered after receipt of DNA test results.

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 1.6: Educate yourself

   Image of DataReceipt icon     Receipt of Data

All of the DNA tests endorsed by Merogenomics require a physician to sign the test requisition form before the DNA sequencing procedure can be purchased by the client. The only exception are the pharmacogenomic tests, which can also be ordered for the client by a pharmacist.

For this reason, the client will not be directly receiving the results of the DNA test. Instead, it will be the ordering physician that will obtain the data (both the Analysis Report based on the decoded DNA sequence of the subject of the test, as well as a digital copy of the DNA data). To ensure the safety of the client and the subject of the test (if they are different from the client), this process allows the ordering physician to review the results and determine the appropriate course of action that would most benefit the client. Appropriate surveillance of, or intervention with, conditions revealed through genome sequencing should be considered only by a medical professional. 

Prior to ordering the test, the client needs to determine if she or he would like to obtain information related to untreatable conditions. The receipt of any pathogenic results, that is DNA results linked to a human disease, can be challenging to handle. This can be even more so in the case of a disease to which there is no known treatment available. It is recommended that the client be as prepared as possible for the receipt of the results, especially if the client has agreed to obtain information related to untreatable conditions. Such preparation could include ensuring that someone close is available for support after the information is disclosed, or to perhaps even accompany the client to the meeting with the doctor.

However, the likelihood of obtaining a genetic diagnosis for an untreatable condition is small. The likelihood of obtaining a pathogenic result is estimated between 1-5%. Within the scope of possible pathogenic results, the highest likelihood will be linked to a hereditary cancer predisposition. But full genome sequencing tests for literally hundreds of possible diseases in one test, including all known diseases with established genetic links, the number of which is expanding every year for both the number of conditions as well as documented causative DNA mutations, so that possibility is likely to increase.

The likelihood of discovery that the client is a carrier of a disease is very high, with the vast majority of people in the population expected to be carriers. If a couple planning to have children screened themselves for carrier status with the same service provider at the same time, their results will be analyzed in tandem to flag any potential issues of reproductive consequences.

The likelihood of obtaining pharmacogenomic information is also very high, with nearly everyone tested obtaining results relevant to drug response.

Only one Analysis Report is provided per client (with the exception of family-based reports when comparing the carrier status between two prospective parents). Service providers of DNA testing will not update or supplement the Analysis Report unless the client agrees to purchase a new one. Some service providers might allow one complimentary update of the data. If available, Merogenomics recommends waiting two or more years between data analysis dates to allow for the ample accumulation of new medical understanding about the genome sequence. A new Analysis Report is generated based on the DNA sequence data that was previously generated for the client. If the client's DNA data is not already stored by the service provider, the client’s DNA sequence will be uploaded via a secure website portal for the new Analysis Report.


   Image of Pathogenic icon    Pathogenic Variants Verification

All DNA tests endorsed by Merogenomics are clinical and are not to be considered for research purposes only. This means that the laboratories performing the DNA test follow the highest established standards to ensure the delivery of accurate information that is then presented to the healthcare provider. This also means that the Analysis Report that the doctor obtains is ready to use for medical interpretation in the context of patient’s medical history.

However, no medical test is infallible from errors and diagnostic errors can and do occur. In the case where the results point to medical management options with a serious impact potential on the patient, such as surgical intervention, the same caution of examining the evidence is required as with any other diagnostic medical testing. In such cases, the diagnosed condition can be confirmed with additional testing, which can include tests completely independent of DNA, and/or re-testing for a specific DNA alteration with an alternate DNA sequencing technology.

This ensures that the information obtained is valid and not due to rare a sequencing error. The client can obtain pathogenic variant verification in one of the following ways:

  • Pathogenic variant verification can be performed in the laboratory where the genome sequence data was produced, using the same sample that was used for genome sequence data generation 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 was 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


   Image of Genetic Counseling icon     Genetic Counseling

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.

  Image of FamilyTalk icon    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. Caution should be taken when approaching family members about the possibility of disclosing genome sequencing results if such results might also have implications for the family member.


  Image of DoctorTalk icon     Communication with Healthcare Providers

The ordering physician of the DNA test will be the primary recipient of the DNA test data and interpretation. A doctor who is familiar with the client’s health history will ideally be in a position to integrate the genome sequence information with her or his personal medical history, along with their family medical history, and evaluate whether further examination is required to obtain supporting evidence of pathogenic mutations.

However, the utility of the DNA test results should not end after the receipt of the original Analysis Report. The DNA data can provide value for the remainder of the life of the subject of the test. Thus, the ordering physician should periodically review the information within the context of the patient’s changing medical history. Available genome sequence data should be reviewed in the following situations:

  • New and serious symptoms materialize in the patient
  • Atypical symptoms are observed in a closely-related family member
  • The sudden death of a family member without a clear explanation behind the cause
  • New medications are to be prescribed for the patient

In addition, the client could have additional doctors involved in her or his care, any of which could potentially benefit from DNA data interpretation in their medical management of the patient. Therefore, after receiving the genome sequence information, the client should consider sharing the results with any doctor involved in their care prior to making any medical decisions or taking action. Some of the medical specialists will wish to analyze the DNA test results prior to their management of a condition, and may request specific genetic testing. In such circumstances, the client can inform the doctor that DNA testing has taken place in the past and inform them of the results. If the past DNA test undertaken by the client was full genome sequencing, it might be of greater value for such data to be reanalyzed than to undergo a new test as a full genome sequence could offer a more complete investigation.


    Image of DNA Storage icon     DNA Long Term Storage

All of the service providers will automatically and indefinitely store a client’s DNA sequence data and its interpretation for future reanalysis as new scientific data emerges.

The client has the option to request personal data destruction and removal from the service provider’s databases, although there might be an imposed time limit as to how soon such action could take place due to potential regulatory obligations with regards to the management of health-related records.

The client also has the option of having their data backed up to be in their personal possession or through additional third-party storage. For a yearly renewal fee, a third party can provide DNA digital cloud storage with data encryption and password access. Merogenomics can help its clients find access to long term storage of their digital DNA sequence file(s).

Merogenomics strongly recommends considering at least one of these options, especially downloading your own copy of the DNA sequencing results. Appropriate safekeeping of the data should be regarded.

There are important considerations with regards to owning one’s DNA sequence data. That includes the fact that long-term multi-generational family genomic information can extend medical value to future generations. Therefore how the data is stored, who owns it, and who inherits it after the client passes away are important factors.

Image of DNA Data Reanalysis icon Reanalysis of DNA Sequence Data

The information presented in the Analysis Report represents an interpretation of the DNA sequence based on the current state of scientific knowledge. As more human genomes are sequenced, new information is uncovered at a rapid pace. Variants that previously were deemed to be of unknown significance, might be discovered to play an important role in trait development. Therefore, reanalysis of a gene sequence can take advantage of new scientific knowledge.

Genome sequence reanalysis based on new scientific data and techniques can be performed every couple of years after the original Analysis Report is issued, or as personal need arises. This is one of the main advantages of sequencing the full genome, as one’s entire personal DNA information is captured, allowing for unlimited future comprehensive interpretation of the data. A cost will apply for each updated Analysis Report.

To access data reanalysis service the client must either:

  • Store the genome DNA sequence in a digital repository and choose an option of future reanalysis (there is no cost for storage if the data is kept with the original service provider who performed the test). Third party provider of genome reanalysis can access the stored DNA sequence for latest data interpretation
  • Reload the subject’s genome at secure website portal for additional analysis. Third party provider of genome reanalysis can access the stored DNA sequence for latest data interpretation

There are number of situations that could prompt DNA data reanalysis besides the recommended updates:

  • The client develops new symptoms that require or could benefit from a genetic diagnosis
  • A closely-related family member shows symptoms of a suspected genetic disease
  • A medical specialist overseeing the client desires access to the latest genetic interpretation in order to apply it towards their medical management
  • The client requires a treatment that could benefit from a genetic interpretation towards a response or prognosis

This service can also be utilized if the client’s decision to omit specific types of information in the Analysis Report has changed after the data have been delivered. The client has the option of having the genome in question reanalyzed to gain access to the types of information that were previously excluded.

  Image of WEB icon    Decision to Publish DNA Sequence Data

All DNA tests endorsed by Merogenomics are for clinical purposes and the service providers of the tests deposit any pathogenic variant findings, along with the corresponding patient symptoms, into public databases that are used worldwide for further medical understanding of the human genome. The client’s personal information is safeguarded and is not revealed in the process.

However, the client also has an option to publish their genomic data elsewhere, whether through participation in a research project or through the use of commercial third-party tools in a bid to better understand the meaning of their own genome. Whereas participation in a research project usually comes with the strict protection of a client’s privacy rights, and information use and distribution is under scrupulous oversight, the use of commercial third-party tools might not guarantee the safekeeping of client information confidentiality. Therefore, Merogenomics recommends that genome sequence information be kept private by minimizing third-party access to the genomic data unless a genuine benefit for the client can be identified, and is backed up by a thorough investigation of the third-party’s data protection practices.

An example of the type of research that the client might want to participate in includes the development of polygenic risk scores, which predict negative health outcomes based on many different DNA mutations found in the genome. Such risk scores are usually for very common health conditions, but due to their complex genetic nature, they have not been previously well understood. Participation in such studies can help progress the scientific understanding of the genome while obtaining access to unique information that might not be commercially available for years to come.

An example of the type of commercial third-party tools that one may wish to utilize is one for analyzing one’s genome for ancestral or ethnic background information.

Caution should always be exercised when delivering your own genomic data to other third parties.


 Image of Law icon    Inheritance of Genomic Data

Collecting personal genome sequence data and its interpretation informs the subject of the test about the potential health risks associated with DNA alterations. However, the DNA sequence also has the power to inform one about the potential or actual genetic makeup of other close relatives. Approximately 50% of one’s genome is identical to those of their parents, siblings, and offspring. Each successive generation will reduce that genetic inheritance in half. In other words, each person’s genome sequence will be 50% identical to that found in their biological children, 25% to that in their grandchildren, 12.5% to that in their great-grandchildren, and so on. These numbers can be cut in half for the relationship with one’s nieces and nephews and the subsequent offspring generations.

Heritability of the DNA code across generations is important because it allows for the tracking of medical outcomes as related to DNA mutations. This means that one’s genome sequence data can be of importance to future generations within the family, long after the passing of the subject of the test. For example, if one is a carrier of a currently unrecognized DNA mutation towards the development of a specific disease, and such information is propagated in the family for several generations, a future union of one of the carrier descendants with another carrier of the same mutation could produce a child with a disease. Having access to the DNA data of any additional closely-related family members, living or dead, could significantly increase the chances of identifying the DNA mutations causing the condition. Thus, one’s DNA data might assist in the medical management of family members, perhaps even several generations down the line.

For this reason, Merogenomics recommends that each client considers who should have access to their DNA data after their death or in the event that they lose their own capacity to make decisions, and then proceed to codify such information in appropriate legal documents such as wills. Each family should aim to maintain the privacy and ownership of all of the genetic information of its members, past and present.




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