Frequently Asked Questions
Whole Genome Sequencing is the process of determining the order of all the nucleotides for all chromosomes of a person’s genome. This approach covers the majority of the genome, with some exceptions in difficult-to-sequence regions, telomeres, and centromeres.
Whole Genome Sequencing differs from Whole Exome Sequencing in that the latter only covers the coding (or exonic) regions that comprise approximately 2% of the genome. Although it can be argued that the majority of disease-causing variants occur in coding regions of the genome, there are variants that occur deep in intronic regions (regions between exons that are typically not covered by Whole Exome Sequencing) and in other non-coding regions of the genome that could be informative for disease risk.
We use reference laboratories that are US-based, CLIA-certified, and CAP-accredited. We assess each laboratory independently to ensure they meet our standards for Whole Genome Sequencing. All analyses of Whole Genome Sequencing Data are processed in the United States by our CLIA-certified and CAP-accredited dry laboratory.
We currently use laboratories that offer Illumina NovaSeq 6000 sequencing with PCR-free library preparation methods.
Our laboratory methods sequence the whole genome as opposed to a limited panel. As a result the updating of reports or findings based on new information only requires reanalysis and re-annotation that has much faster turn-around times and is significantly cheaper than ordering the initial whole genome test.
Our laboratory-developed tests (LDTs) are required to be ordered by a physician. Simplify Genomics is a CLIA-certified, and CAP-accredited clinical laboratory and is compliant with all CAP/CLIA regulatory guidelines. We do not offer direct-to-consumer genomic testing services.
We are licensed to issue Whole Genome Sequencing reports in the United States. We are currently not approved to issue reports in New York State.
We currently do not offer diagnostic testing for specific disorders or diseases. Please contact us if you are interested in diagnostic testing services.
Our Whole Genome Report includes Monogenic Hereditary risk, Polygenic risk, Pharmacogenomics, and Nutritional and wellness sections. For details, please consult our Clinical Gene List
For a list of genes and diseases included please consult our latest Genomic Clinical Report Gene List.
We currently only offer a healthy screening test and therefore do not report VUSs. We report Likely Pathogenic and Pathogenic variants that are included in our hereditary disease gene scope of well-established gene-disease associations. For a complete list of genes and diseases, please consult our Clinical Gene List. We do, however, provide access to the entire genome in our Smart Genome Platform with associated variant annotation data.
Yes, we periodically update the reporting scope of our WGS report and as a result, both the scope and variant interpretations may be updated. You may place an order for your WGS results to be reanalyzed without re-sequencing, once a new report version has been released.
The percentage of clients that have a medically significant finding is a function of both the type and scope of the test ordered. Our current scope covers more than 2100 well-established gene-disease associations and thus a finding in any of these genes would be present in the hereditary risk section of the report. A medically-significant finding is any heterozygous disease-causing mutation in a gene with dominant inheritance, or a homozygous disease-causing mutation in a gene with recessive inheritance. Approximately 14% of our clients have medically significant findings in genes associated with rare disorders, such as BRCA1/BRCA2 (Hereditary breast and ovarian cancer syndrome), MSH6 (Lynch Syndrome), G6PD (Hemolytic anemia) and others. Note that there are some more frequently observed likely-pathogenic and pathogenic variants that are informative of disease risk for common disorders, such as Alzheimer’s Disease (APOE); Hemochromatosis (HFE), Factor V deficiency (F5), and others. If we include these more common risk factors, approximately 38% of our clients have monogenic medically-significant findings. Finally, between 50% and 74% (dependent on whether we include common risk factors or not) of our clients have carrier findings in genes with autosomal recessive inheritance patterns that would require notification of potentially impacted family members.
All medically-significant results are included and highlighted in the clinical report issued for your patient. The report is delivered to the ordering physician and not directly to your patient. We can refer you to a Genetic Counselor partner if required.
Our clinical reports also include the assessment of drug response or toxicity for a number of commonly prescribed therapeutics, polygenic risk for common diseases, and nutritional and wellness traits. While these are not necessarily medically significant from a disease-risk point of view, they are important to consider - for example, when prescribing medications for your patient. The pharmacogenomics section includes responses to common drug classes, such as statins, beta-blockers, proton pump inhibitors, and opiates. For a full list of pharmacogenomics genes, polygenic risk models, and nutritional and wellness traits, please consult our Clinical Gene List
We do provision access to raw genomic data for physicians in our Smart GenomeTM platform. Please contact us for additional details. For patients, we are able to provide downloads of raw genomic data files, but these are required to be requested by the ordering physician. Details are available at our Support Desk.
Our Smart GenomeTM Search platform allows the exploration of all variants in a genome including those that are not covered by a clinical report. With Smart GenomeTM Search you can easily compare genomes, query variants, find clinical annotations, and filter genomes by genomic and clinical features.
Our Smart GenomeTM Search platform is built with the clinical user in mind. We believe that genome queries should be possible without the knowledge of programming or database syntax and language. Our Smart GenomeTM platform is “always on” and available through a web browser interface. It does not require the provisioning of compute resources (or clusters) and does not require any programming skills. Our platform is queryable with simple keywords. Our goal is to place genomes at the fingertips of clinical users.