Genome Sequencing Procedure Overview

General Overview

Consultation with a health care provider is not a prerequisite, however, it is highly recommended if the results of genomic sequencing will be used to obtain specific health related information.

A prospective client should first become familiar with the content of the Merogenomics website to learn about the genomic sequencing procedure and its purpose, and to gain genetics background. Merogenomics staff are available to answer any additional questions. The client will choose one of four target groups DNA tests and additional supporting products. Genetic counseling should be seriously considered prior to undergoing a genome sequencing procedure.

Merogenomics staff are available to answer any additional questions. The client will choose one of the four target groups of DNA tests and additional supporting products.

The client can purchase the DNA sequencing procedure of choice after signing an informed consent (which is the same as the test requisition form signed by the ordering physician). Relevant personal medical information applicable to the test will be obtained. The client’s payment information might also be collected at this time.

In the first step, a DNA test kit is sent to the client to obtain a saliva or blood sample, which will be used for DNA isolation and sequencing. For prenatal genome sequencing, a sample of the mother’s blood is necessary as it contains DNA of both mother and child. The blood sample must be drawn and sealed in a sterile container by appropriately trained health care personnel.

The next step is the DNA analysis of the obtained specimen. The DNA analysis comprises known and validated health risks and this information is delivered to the ordering physician along with the determined DNA sequence. Report information will be organized from most scientifically validated to least validated. Only information regarded to have sufficient scientific validation can be considered “clinically actionable". Access to genetic counselors can be requested to aid the client in data interpretation.

The data presented to the ordering physician can include diagnostic information without any further known medical course of action available (untreatable conditions), and “clinically actionable” information that allows the healthcare provider the opportunity to alter the medical management of the client/patient as necessary. The client can select whether information regarding untreatable conditions should be delivered in the results.

The client has an option of storing their genome sequence at a secure and private digital repository with an additional option for future genome reanalysis.

 

In-Person Interview

Each prospective client will have an opportunity to have an in-person interview with Merogenomics representative 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 client has discussed DNA testing with her or his treating physician and is ready to sign the test requisition form, 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 collected data, and to provide an opportunity for the client to ask questions.

The meeting can take place via phone, internet, or in person if appropriate. Please use the link below to book your meeting.

 

START testing

 

Order Purchase

Payment for services offered through Merogenomics must be processed by fund transfer or credit card payment either directly to the service provider or to the nearest healthcare clinic distributing the test, depending on the type of DNA test required.

The timing of the payment will depend upon what type of DNA test is being considered for purchase. Some tests might require an investment upfront, and most will need payment once the sample is present in the laboratory for assessment, thus long after the decision process is complete. The majority of tests are purchased directly from the service provider. Some tests can only be purchased via a healthcare clinic. When applicable, tests can also be covered by insurance. The service provider can help each client with determining their eligibility for insurance. Service providers can also offer payment plans, or financial support depending on the DNA test type ordered.

 

Additional Participants Consideration

As part of the signed agreement form, the client might be asked to provide the following information:

  • 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 might be required for the genome sequencing procedure.

  • Optional 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 might be required to sign a consent form.

  • Additional treating physicians

The client can indicate if there are more physicians or specialists that the client would like their DNA test results delivered to besides the ordering physician. For example, the additional doctors involved in the treatment of an existing condition, or medical specialists overseeing the client that could benefit from access to genomic data.

 

Tissue Collection

Genome sequencing can be performed on a sample of blood or saliva, the sole exception being prenatal whole genome sequencing which requires a blood sample. A blood sample is preferable to a saliva sample as blood furnishes higher quality data. Although a saliva sample is a simpler option, saliva is susceptible to bacterial contamination, which can impact the accuracy of the genome sequence. For blood sample collection, kits need to be provided in a clinical setting via a doctor's order.
 

  • Blood sample collection

If blood is to be collected at medical center, approximately 5 ml of blood will be drawn by venesection by a trained medical professional, and sent to the sequencing facility. If a portion of the blood sample is not used in the procedure, it will be frozen and saved at the biorepository of the sequencing facility to act as a back-up for further genome sequence data generation in case the primary procedure fails.
 

  • Saliva sample collection

For the majority of genome sequencing procedures, a saliva sample is sufficient to obtain the required DNA (although a blood sample is preferred). A sample vial, a sterile swab, instructions for use, and an identification code for the subject of the genome sequencing will be sent to the client. The swab is used to collect a saliva sample from inside the subject’s mouth, and will be sent to a third party in an envelope provided. A small portion of the saliva sample will be frozen and saved at the biorepository of the sequencing facility to act as a back-up for further genome sequence data generation in case the primary procedure fails.
 

  • Cancer biopsy sample collection

Protocols and collection kits for cancer biopsy samples can vary among service providers. Paraffin embedded cancer samples are the most common, but alternatives will be suggested if they are deemed beneficial to the quality of the genome sequencing outcome.

Cancer biopsy samples are usually stored at the pathology laboratory that harvest the sample from a patient. The treating physician or oncologist can arrange for the pathology laboratory to deliver the sample to the genome sequencing facility, provided that sufficient quality and quantity standards are met. Otherwise a new biopsy sample may be required for the genome sequencing procedure.
 

  • Prenatal samples

For prenatal DNA testing, specific sample types are required, depending on the procedure type requested.

For non-invasive prenatal screening, only a maternal blood sample is required.

For invasive genetic testing, the most preferred sample option is of the amniotic fluid for the most direct access to an actual DNA source of the fetus, and this offers the smallest reported risk to pregnancy. The procedure of obtaining the amniotic fluid sample is referred to as “amniocentesis”, and is performed by a trained medical expert and will require a doctor's referral.

An alternative option is a chorionic villi sample obtained from the placenta. The placenta acts as a surrogate marker for fetal DNA, as both the fetus and the placenta originate from the same fertilized egg. However, in rare circumstances the placenta can exhibit its own unique DNA signature that is not present in the fetus, and therefore can lead to false positives. In addition, studies indicate that chorionic villi sampling carries a higher risk of pregnancy loss than amniocentesis. For these reasons amniocentesis is the preferred option for invasive diagnostic procedures.
 

  • Special circumstances

The client that has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant will contain cells with more than one genome (their own genome inherited from parents, and the genome of the transplant donor). Such clients cannot provide a typical saliva or blood sample for DNA testing purposes due to the mixture of inherited germline and donor genomes in these samples. In some circumstances, a history of hematological disease might also prevent the ability to undergo DNA testing. In such circumstances, cultured fibroblasts might be the required sample in order to deliver the desired DNA testing.

 

Genome Sequence Generation and Interpretation

DNA isolation, DNA sequencing, and the interpretation of a subject’s genomic DNA are performed by third parties endorsed by Merogenomics Inc. These firms have set technical competency standards and demonstrated procedural analytical validity, and collaborate with leading academic and industry research institutions.

The procedure of whole genome sequencing commences with DNA isolation from the sample collected from the subject. The isolated DNA is broken up into millions of small fragments. Each fragment is joined to a specific tag and placed in a flow cell in a sequencing machine. The flow cell is populated with tags that are complementary to the tags on the DNA fragments, allowing DNA fragments to attach to the flow cell. Each individual DNA fragment is then multiplied (for enhanced signal measurement) into a population of identical pieces of DNA. Each DNA fragment is sequenced by providing one of four different possible DNA nucleotides that make up DNA, a single nucleotide at a time. Each nucleotide is attached to a specific fluorescent molecule to identify its presence on the DNA fragment being sequenced. All of the millions of small fragments are sequenced simultaneously. The decoded fragments are then pieced together into a whole genome sequence with a computer program and delivered to the client.

The higher the number of independent times a particular nucleotide base is read, the higher the accuracy that it was measured (also termed “called”) correctly at that location. This is also referred to as “read depth” or “coverage depth.” A certain minimum coverage depth is required as the acceptable threshold to be confident that the nucleotide base was called correctly.

 

Decision to Publish DNA Sequence Data

It is possible that the DNA data analysis will uncover novel information of value to the medical community. In such circumstances, service providers of medical genomics will deliver anonymized variant information and the associated disease symptoms information to public databases that are used worldwide for human genome DNA sequence interpretation with relation to medical conditions. The privacy of the client will continue to be protected.

Such a collaborative building of observed relations between DNA and health outcomes allows for the continuing enhancement of medical benefits derived from DNA testing. The privacy of the client will continue to be protected. The information provided is unidentified and no personal information details are submitted with the DNA and medical outcomes information. These clinical databases are part of international research efforts employing stringent regulation standards to ensure the safety and quality of collected information, and are overseen by authoritative national health-research institutes.

If the client does not wish for their information to be submitted to such databases, they would have to inform the service provider of their decision in advance.

In addition, the client has the option to have their DNA and correlated medical information published outside of public clinical databases; for example, through participation in research that could lead to a published scientific record, or through additional commercial third parties that could make such data available to an open-source website or database. Such data may 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 or a close relative.

Therefore, Merogenomics recommends that when choosing to publicly disclose a subject’s genomic information for social benefits or for any other reason, to sources other than international clinical genomics research databases with ensured public data protection oversight, only information essential to the objective should be released in order to protect anonymity.

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 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. Canada has a genetic anti-discrimination law to protect against such prejudices should personal information be released publicly.

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 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.

 

Storing Genome Sequence

The client’s genome sequencing data is typically automatically stored by the service provider of the DNA tests for safekeeping and for future reanalysis as new scientific data emerges.

Merogenomics recommends considering an option of having access to an additional back-up of the data that is independent from a service provider. The client has the option of personally holding their own digital copy of the data that could be downloaded from the service provider of the test. Alternatively, the client can choose to deposit the genome sequence in another digital repository for additional security. For a yearly renewal fee, a third party can provide DNA digital cloud storage with data encryption and password access.

In addition, the client should consider the long-term consequences of owning their DNA data, and how that ownership should be altered in the event of their death or the loss of their capacity to make their own decisions. Long-term multi-generational family genomic information can extend medical value to future generations, and Merogenomics strongly encourages considering how one’s personal DNA data ownership is retained in the family.

 

Preserving Confidentiality

Service providers  of the DNA tests take all reasonable efforts to protect the privacy of the information and samples provided by the client and the confidentiality of the data generated. All data and information will be encrypted, password protected, and stored in a cloud. All tissue samples will be stored in a safe biorepository until they can be safely discarded. DNA testing service providers will not distribute private and sensitive information to third parties without the agreement of the client.

The confidentiality of client information and genome sequencing and analysis data cannot be absolutely guaranteed in the event of unintended data breaches such as hacking or other unforeseen events. 

A statistical database containing all the information accumulated by the service providers of DNA tests, including genomic data statistics, will be maintained for informative and developmental purposes. Such information will be without reference to and cannot be utilized to identify any individual. Examples of the type of information included in the database are: the number of pathogenic variants identified among clientele, the average age of clientele, frequency of male vs. female purchases. Collected data from many persons might be published or used for teaching purposes for the propagation of scientific knowledge without revealing any information that could lead to individual identification. Data from a single individual will be published only with approval from that person, and in a way in which the published information cannot lead to an identification of the individual involved.

 

Additional Products

  • genome sequencing
  • genomic counseling
  • digital biobank storage

 

Related Information

Types of Genome Sequencing Procedures

DNA Tests for Health Risks

Cancer DNA Tests

Prenatal DNA Tests

Undiagnosed Diseases DNA Tests

Genomic Education


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