Frequently Asked Questions
Here are answers to some frequently asked questions. If you have a question that was not answered, please .
Your doctor is the final judge, but there is so much useful information any person (healthy or sick) can get from genomic sequencing. And many healthy people are indeed getting tested. Our test is a great preventative medicine tool, potentially uncovering insights such as medication responses and disease risk. You and your doctor can use these types of insights to structure a proactive care plan to keep you healthy.
Because exome sequencing technology is so new, our test is not currently accepted by most insurance. However, patients with certain serious medical problems often do get reimbursement from their insurer by submitting a claim. (We can help with this process -- please .)
Yes. Our report contains complex medical information which is best interpreted by a trained physician. Trust us, this is powerful stuff. Moreover, US laws require our test to be ordered through a doctor. We will help you find a qualified doctor if you do not have already one.
Whole Exome Sequencing, what we specialize in, provides a much broader view of your DNA than genotyping (what 23andMe does for instance). This means we are better able to understand how your DNA affects your health. In addition to the difference in sequencing, we apply far more sophisticated computer algorithms. We use deep literature mining and natural language processing to link the DNA variations you have with peer reviewed published papers. We can make sense of and determine the impact of even very rare mutations. Our database contains more than 200,000 associations between genomic mutations and health related findings -- by far, the world's largest. For these reasons, we call ourselves the world's most powerful DNA test.
At the time of ordering, you will have the option to elect to hide certain results from your report. We recommend discussing this with your doctor before the test is ordered. One option many young people like is hiding risks for diseases that are considered hard to prevent (such as Alzheimer's disease or Parkinson's disease). This allows the person to focus on health conditions that are more immediately actionable.
We take data security very seriously. Of course we are HIPAA compliant, but we go much further than that. We encrypt all DNA information while it is stored on one of our hard drives and whenever it is transmitted between computers. Only certain authorized personnel have access to your data (for quality control purposes). You are also able to control which doctors have access to your data.
You have protection. Congress passed the GINA (Genetic Information Nondiscrimination Act) in 2008, which prevents health insurers and employers from unfairly treating Americans based on their DNA. Health insurers and employers cannot increase premiums, deny or limit coverage, or fire an employee due to genomic information.
We see plenty of patients who have received no useful information from taking other genetic tests. We would be happy to reexamine your data using our superior algorithms. Please .
There are many limitations, and you should consult with your doctor to get a complete understanding. Here are some: we typically analyze just the 1% of the genome known as the exome; there is a probability that any portion of our advertised coverage region happens to be incompletely sequenced; there are types of genomic variation that exome sequencing is not ideal at detecting; measurement errors can happen; and basic science's understanding of the impact of the genome on human health is still evolving.
Whole exome sequencing, or WES, is a type of genomic sequencing utilizing next-generation sequencing technology for a targeted capture and reading of the entire exome. The exome is the region of the human genome responsible for coding proteins. While the exome only comprises 1% of the total genome, over 85% of Mendelian diseases are found on the exome, making it a highly efficient region of the genome to analyze.
Whole exome sequencing, or WES, focuses on the region of your DNA that codes for proteins. The vast majority of disease causing mutations lie in this region. Whole genome sequencing, or WGS, by contrast, analyzes all of your DNA. While it may seem like WGS is better than WES, since WGS sequences more, actually WGS has a number of problems. First, WGS is typically done at a much lower coverage than WES. For example, while N.A.G. usually sequences at 120X coverage, most WGS providers sequence at 30X (to save on cost). This means we can be way more certain that you actually have a variant. We are absolutely against false positives. More relevant points come from Clinical Interpretation and Implications of Whole-Genome Sequencing. They say, "In this exploratory study of 12 volunteer adults, the use of WGS was associated with incomplete coverage of inherited disease genes, low reproducibility of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable WGS findings." They also say, "... fewer than one-third of insertion/deletion variants in inherited disease genes were confirmed by the second sequencing platform. This finding suggests that genetic variants of a type that are quite likely to be pathogenic are more often inconsistently identified. Other investigators have made similar observations about potential loss-of-function mutations. This may be particularly pronounced in individuals with low prior probability of inherited disease or when no clear diagnostic end point is pursued. Thus ... there is a persistent need for technical confirmation of potentially significant findings and supplementation with other genetic assays to achieve clinical grade sensitivity and specificity." In conclusion, we believe WGS is not ready for prime time the way WES is. WGS may mature five or ten years from now.
Gene panel tests are highly targeted but very narrow in scope. WES examines over 22,000 genes in one test, while most gene panels look at 10-100. WES casts a much wider net, evaluating nearly all of the genomic factors that may impact your health. This is important, because multiple genes are associated with most clinical conditions. There are some scenarios in which gene panels may be preferable to whole exome sequencing -- for example, if you have no interest in more than one or a few genes. If, however, you are interested in a full view of your health, we believe whole exome sequencing provides a great value. Please discuss with your doctor.
N.A.G. specializes in whole exome sequencing, but we also provide gene panels. Please .