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Whole Genome and Exome Analysis for Individuals

Personal genome exploration for research, informational and educational purposes only

We believe you have a First Amendment right to information encoded in your genome – including your risk of developing common medical conditions and your likely response to drugs. However, the information provided in our non-clinical genome analysis is intended only for informational and educational purposes and research use, and should not be used for medical diagnosis, prognosis or treatment. Here’s how it works:

1) You complete an order form and submit your order along with payment. By submitting the order form, you agree* to use the information we provide for research, informational or educational purposes only. We send you a sample collection container, and you (or your doctor) return the vacutainer with a sample of your blood to us.1.

2) We sequence your DNA and analyze the data to identify the natural genetic variation you carry2. Various depths of sequence coverage are available starting with ~30X to 50X for our standard exome sequence and analysis service – priced at $9993.

3) We compile a list of the genomic variants detected in your genome and report any health risks, medical conditions or drug effects previously associated4 with any of your detected variants.5 Variant calls with a single variant detection program come as part of our standard service priced at $999 per sample.

More accurate variant calls may be gleaned from multiple variant detection algorithms using our BAYSIC (Bayesian integrated calling) process. BAYSIC produces a single call set with dramatic improvements in both sensitivity and specificity. BAYSIC is available for an additional $99 per sample.

4) We send you a variant report6, informing you of any genomic variants we detect that have been previously associated7 with health effects in other people, and provide links to the scientific studies that document those associations or correlations. If you want to personally explore your genomic data, and filter or sort your variants by gene, disease, pathway, drug, medical condition or trait, then we will provide access to our VarIANT (variant interpretation and annotation tool) web application for an additional $99 for the first 3 months of use, and $159 for a one year’s subscription.

5) If you want personalized help understanding your report, then we will refer you to an accredited medical genetics professional to consult with you. For more information on this service please contact us info@genformatic.com. Consultation is available starting at $1299.

For more information please see Consumer Information Applications below or contact us contact us at or call 512.565.4693.

* If you or your doctor intend to use the genome or exome analysis results for medical diagnosis, prognosis or to guide medical care or therapy, you should use our Medical Genome Analysis service.

1 Depending upon the test, we may ask you for a blood sample, a biopsy sample, or other source of DNA. If you or your doctor intend to use the DNA sequence and analysis results for medical diagnosis, prognosis or to guide medical care or therapy, then use our Medical Genome Analysis below.

2 You can ask that we sequence:
a) your Exome (The exome is the ~180,000 “exons” in your genome, which contain ~50 million base pairs of DNA. The exome is often described as the portion of your genome that codes for proteins and the DNA immediately adjacent to those coding regions); or
b) your Genome (The whole genome is about 3 billion base pairs of DNA and includes all of the Exome, plus all the introns (the noncoding sequence in between exons), 5’ and 3’ untranslated regions near genes, the intergenic regions between genes, and practically all other parts of the genome known to be functionally important.

3 The more deeply we sequence the lower the chance of sequencing error and the lower the rate of false positive and false negative variant calls

4 We report only associations or correlations between genentic variants and disease risk or drug effects that have been reported in the scientific and medical literature. Some associations have been validated in multiple studies, while others have only been observed in a single genome wide association study (GWAS). Some associations may therefore be more reliable and accurate than others, depending upon whether the association has been validated, and the strength of the association between the detected variant and the risk of developing the corresponding disease. The strength of the association between a variant and disease risk may be measured by the relative risk or odds ratio. The odds ratio is the ratio of the probability of those with the variant developing the relevant condition compared to the risk faced by those who do not have the variant. Just because you have a variant does not mean that you will develop the condition. Having a particular variant may affect the probability of developing a condition or disease but it does not mean that the variant causes the disease, nor does it mean that you will inevitably develop the disease or condition. Your risk may be affected as much or more by environmental influences or your behavior and habits.

5 Your genomic variants are all those changes in the DNA sequence that you inherited from your parents, plus some mutations that occurred during the process of producing the egg and sperm that combined to form you, or which occurred early in your development.

6 The variant report is not a diagnostic test and is not intended and has not been approved for use in diagnosing or treating disease or medical conditions. Our standard services and the variant report are for informational and research use only. Any information you obtain from our report should be confirmed and validated with an approved diagnostic test or additional sequencing and analysis in a CLIA certified laboratory before using the information for medical diagnosis or treatment decisions, and then only in consultation with your medical professional. Do not cease or alter any prescribed medication or treatment based upon the information we provide without independent validation of the information, and then only after consultation with your physician.

7 We only report health impacts of variants we detect if those variants have been previously documented in the scientific or medical literature as associated with an elevated or reduced health risk.

Medical Genome Analysis for Physicians and other Health Care Providers

We provide sequencing, variant detection and annotation, a genomic health report, and an interpretation of variant health implications – useful in a variety of clinical applications, including Oncology and Genetic Testing. Here’s how it works:

1) You or your doctor may want genome sequence data to help with diagnosis, or choosing the best treatment options for you. If your doctor wants exome or genome analysis for medical applications, including individualized cancer care and therapy selection, clinical genetic testing and carrier screening, or risk assessment for many common diseases, medical conditions and drug response effects, then your doctor may order clinical genome sequencing and analysis. Medical genome or exome analysis usually involves sequencing the primary patient samples to a greater depth of coverage (e.g., 200X, or 100X), and doing so in specially accredited CLIA laboratories implementing best practices. For more information, including current pricing and order forms, please contact us (links to info@genformatic.com). 200X medical exome analysis is available for a single sample starting at $6599. 100X medical exome analysis for a single sample is available starting at $5499.

2) Medical applications of genome analysis and interpretation will often benefit from sequencing the patient and other members of the patient’s family (e.g., the patient’s parents and siblings or cousins). For more information on sequencing Trios (mother, father and affected child) or Families (patient, unaffected siblings, mother and father) please contact us (links to info@genformatic.com). 200X Trio exome analysis is available staring at $14,999. 100X Trio exome analysis is available starting at $7599

3) Similarly, both diseased tissue and unaffected tissue of the patient may be sequenced at the same time. For instance, most Cancer applications will involve sequencing both the tumor and normal tissue from the patient. For more information on sequencing Tumor-Normal tissue pairs, including the most current pricing information, please contact us (links to info@genformatic.com). Standard Tumor-Normal pair sequencing at 200X is available starting at $12,999.

4) Medical genome analysis will be performed in a “CLIA” certified testing laboratory1 Clinical exome analysis is offered by Genformatic in conjunction with leading providers of medical genomic testing, including the Baylor College of Medicine’s Genetic Testing Laboratory, UCLA’s Clinical Genomics Center, and other CLIA accredited clinical sequencing labs2. To get more information, including order forms and prices, please contact us

5) If you or your doctors want more information about the health risks that you or your child may face because of your or their genetic makeup, or want to confirm the accuracy of the genetic or genomic health risk information you already have, then clinical exome analysis may be advised. Your doctor must order clinical sequencing and analysis. Genformatic offers clinical exome analysis in conjunction with the Baylor College of Medicine’s Genetic Testing Laboratory, UCLA’s Clinical Genomics Center and other CLIA accredited clinical sequencing labs3. To get more details and the latest prices, please contact us (info@genformatic.com). 200X medical exome analysis is available starting at $6599. 100X medical exome analysis is available starting at $5499.

6) As part of your or your patient’s Medical Genome Analysis, you will receive a report prepared by an appropriately credentialed medical professional highlighting any detected genetic variation or mutation that may be of clinical relevance, including the probable functional significance and medical impact of any clinically relevant features. Additional personalized interpretative consultation with a medical professional is available starting at $1299.

Please contact us or call 512.565.4693 for more information.

1 CLIA laboratory sequencing and analysis service provides additional assurance that the variants detected are real, and not the result of sequencing errors or technical or statistical artifacts. In addition, the analysis results are reviewed and approved by an appropriately credentialed medical professional.

2 Baylor College of Medicine’s Genetic Testing Laboratory and UCLA’s Clinical Genomics Center are premier genetic testing laboratories and global leaders in bringing genomic analysis into clinical practice.

3 Baylor College of Medicine’s Genetic Testing Laboratory and UCLA’s Clinical Genomics Center are premier genetic testing laboratories and global leaders in bringing genomic analysis into clinical practice