Introducing PGnome® Whole Genome Sequencing
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We are excited to announce the availability of our new whole genome sequencing (WGS) test, PGnome®. Prices start at $2,490 for testing of a single patient. WGS is the ultimate germline DNA test. WGS is superior to exome sequencing because it covers portions of the genome, such as deep intronic regions, that are not covered by exome sequencing and yields superior detection of structural variants. In addition, genome sequencing provides improved analysis of tandem repeats and paralogous regions and is essential for application of polygenic risk algorithms. The great majority of variants used by polygenic risk algorithms are not located in coding regions and are, therefore, missed entirely by exome sequencing.
James Weber, PhD, President & CEO of PreventionGenetics, Discusses Genome Sequencing
Despite the pandemic, this summer is a special time for me. I’ve worked in human genetics, both research and clinical testing, now for about 40 years. I’ve seen many great advances including hybridization kinetics, DNA cloning, PCR, linkage mapping, the Genome Project, and a mind boggling reduction in sequencing costs. PreventionGenetics’ new whole genome sequencing (WGS) test is the culmination of many years of hard work.
WGS is the ultimate germline test, because it covers the entire genome. No more small islands of sequence with big gaps as in an exome test. Although initially the primary application of WGS will be diagnosis, there are other, very powerful applications as shown in the following list.
Primary Applications of WGS
- Diagnosis
- Assessment of Disease Risk and Prevention
- Reproductive Planning
- Pharmacogenetics
- Research
Despite my long involvement in human genetics, even I have been surprised by the power of WGS. This test truly provides an enormous amount of useful information. I am absolutely certain that WGS is a route to significant improvement in healthcare.
The cost of WGS is not trivial, but WGS costs should be considered in the context of lifetime healthcare costs. In the US today, average lifetime healthcare costs are about $800,000 per person. The cost of a once per lifetime WGS test is < 0.5% of this total (and WGS costs are steadily dropping). For all the valuable information that this test provides, WGS is a stupendous bargain.
WGS tests offered today by PreventionGenetics and other labs are still relatively crude but will improve rapidly. New features will be steadily added including faster turnaround times, screens for repeat expansion disorders and the mitochondrial genome, and HLA typing. Over the longer term, long read sequencing will improve coverage even further and help us deal with difficult paralogous genes.
WGS is a comprehensive test. It covers all diagnostic testing, cancer susceptibility testing, pharmacogenetics testing, and much more. It makes no sense to require patients to pay first for one (or more) of these much less informative tests and then pay again for WGS. Much better is for WGS to rapidly become the first, and in many cases, the only germline test ordered. Let’s all work together to make WGS a routine and essential part of patient care.