DNA Testing - Genome Sequencing Consulting|Merogenomics Inc.

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Step 1.4: Educate yourself

Human genome sequencing is the process of decoding the order of nucleotide bases in the entire human DNA to gain information of interest. Variations observed in the DNA between different individuals afford insight into the variation in specific traits of these individuals. As some traits have an impact on human health, genome sequencing can provide valuable information about human disease that would otherwise be hidden until symptoms appeared.

The client will determine what type of DNA testing is appropriate for the subject of the genome sequencing procedure. The type of genome sequencing selected (partial or full) will depend on whether the subject is asymptomatic (expected to be healthy) or has disease symptoms. The options selected can impact both the genome sequencing procedure and the data analysis. Merogenomics will help the client access a third party service provider that matches the desired criteria at the highest standard and technological accuracy available. The cost of a single test can range from below $700 to several thousand dollars, depending on the technical demands of the test. The following options are provided.

Genome Sequencing Procedures for Individuals with Symptoms

Genome Sequencing for Cancer Profiling

An individual who has been diagnosed with cancer can consider undertaking molecular profiling of the cancer sample through genome sequencing if that option has not be exercised in his or her clinical care. Access to such information can help pinpoint biological pathways affected by the cancer which could help identify personalized treatment options.

The cancer sample can be analyzed by itself or, for results of higher accuracy, in tandem with a normal tissue sample for comparison. A blood sample is required for normal tissue genome sequencing. A physician is required for client sample acquisition, and to interpret the genome sequencing report.

The cancer sample analysis might not provide information of value if there are no known approved or investigational therapies associated with the molecular profile of the cancer, or if the information conflicts with a therapy selected by the healthcare provider.

Additional tests can provide a more detailed molecular profiling of the cancer sample. This can include transcriptome sequencing (sequencing of RNA transcripts found in cancer tissue as a product of genome expression; such transcripts act as templates for protein production) and/or proteomics (which determines the identity and quantity of proteins found in cancer cells; such proteins are the most common targets of cancer drugs). The combined data analysis is generated using computer algorithms that parse available scientific information. Integration of multiple test procedures can enhance the accuracy of data interpretation and the success of outcome prediction.

Individuals diagnosed with cancer are encouraged to consider the advantages of utilizing RNA transcriptome sequencing, which can provide:

Information about the state of disease that cannot be derived from genome sequencing; for example, abnormal RNA transcript fusion that could be a contributing factor to cancer development
Validation of somatic variants (spontaneous mutations that were not inherited from parents) discovered in the cancer tissue genome

Merogenomics can also assist clients to investigate diagnostic options such as the use of cancer specific gene panels in addition to the whole genome sequencing procedure. Cancer targeted gene panels are tests that investigate only preselected genes. The whole genome sequencing procedure involves analysis of the entire genome in the cancer sample, providing a broader survey than the gene panels.

Integration of DNA based cancer molecular data into a personalized therapy plan is determined by a healthcare provider or oncologist.

Individuals who consider undergoing cancer genome sequencing should familiarize themselves with the limitations and risks associated with the procedure.

The options of gene panel and full genome sequencing are also available to individuals who have not been diagnosed with cancer, but who have a family history of cancer, in order to determine if a genetic cancer predisposition is present.

Cancer DNA Tests

Genome Sequencing for Disease Diagnosis

Persons with undiagnosed diseases An individual who suffers from a disease for which the cause has not been diagnosed can seek a genomic cause of the condition with a demonstrated success rate of up to 70%. Merogenomics will connect the client with a medical service where the subject’s genetic information will be analysed under the supervision of a clinical geneticist and a dedicated bioinformatician. The procedure requires personal trait information from, and a medical history of, the affected individual. Additional family members might need to have their genomes sequenced for comparative purposes. To ensure the highest level of accuracy, a blood sample will be required for DNA isolation to determine the genome sequence. The procedure involved in tracking the genetic cause of a disease requires more resources and involves higher financial input than does a straightforward genomic sequencing procedure.

The client will receive a digital copy of the entire DNA sequence in the subject’s genome, and an Analysis Report based on data derived from the genome sequence (please see below for details). Additional family members who have had their genomes sequenced will receive results independently. The medical team overseeing the genome sequencing procedure will have access to the produced genome DNA sequence and its interpretation.

If the diagnostic quest is successful, the supervisory medical team will suggest options of future steps (if any) that the client could undertake to deal with the newly categorized condition.

Undiagnosed Diseases DNA Tests

Genome Sequencing Procedures for Asymptomatic Individuals

Genome Sequencing for Pregnant Mother / Fetus

A pregnant woman who wishes to investigate the genetic risk factors of her fetus has two options available to her: a non-invasive procedure to analyze the fetus for chromosomal alterations such as trisomies (a trisomy refers to the presence of three chromosomes, rather than the usual pair of chromosomes), as well as subchromosomal rearrangements (the partial duplication or deletion of a chromosome that can lead to a disease), or an invasive procedure for fetus DNA sequencing for specific genetic conditions.

Non-invasive prenatal screening (NIPS, also referred to as NIPT for non-invasive prenatal testing), requires only the mother’s blood, which contains DNA sources of both the mother and her future offspring, and therefore the procedure is absolutely safe for the fetus. The fetus’ data will include sex assessment (which is optional unless sex chromosomes are involved in the suspected condition’s diagnosis), and chromosomal aneuploidies and rearrangements (within the scope of technical capability), that can inform one about potential developmental complications such as Down syndrome (trisomy 21).

NIPS is typically available from 10 weeks of gestation onward. NIPS should not be considered a stand-alone test, and the client should be familiar with the test’s limitations, including the chances of a false-positive result, a false-negative result, or even no result being determined. However, studies indicate that the test possesses a very high sensitivity rate in the range of 98-99% for the most common trisomies (trisomies 21, 18, and 13), and offers a specificity of around 99.95%. For these reasons, NIPS is now considered the most accurate pregnancy screening method for these trisomies. In addition, all other chromosomes can be investigated for aneuploidies (the altered number of chromosomes). The sensitivity of subchromosomal alterations can range from 50–100%, depending on the size of the impacted genomic area and the depth of sequencing coverage.

Invasive prenatal DNA testing, whether full genome sequencing or partial genome sequencing (exome sequencing) can be undertaken if a genetic condition affecting the fetus is suspected, based on an abnormal finding of prenatal screening results, including NIPS.

Pregnant women considering fetal DNA testing should familiarize themselves with the limitations and risks associated with the procedure.

Prenatal DNA Tests

Genome Sequencing for Individual Screening

Any individual can choose to undergo a genome sequencing procedure to obtain information of value, including health related information for potential future care. The list of potential benefits is provided below. A client seeking such information about themselves (or a dependent) must provide a sample of saliva or blood. A blood sample is preferred because blood provides higher quality data than saliva. Saliva samples can contain bacterial contamination which can impact the accuracy of the genome sequencing.

DNA Tests for Health Risks

What Client Obtains

The client can receive a digital copy of the entire DNA sequence of the subject’s genome (available for download via a secure website portal), while the ordering physician will obtain an Analysis Report based on the latest scientific interpretation of the DNA sequence data. Each of the covered sections of the benefits of genome sequencing can also be obtained independently as a stand-alone DNA test.