Sequencing.com delivers whole genome sequencing with a marketplace of apps that interpret your raw data. One of the most valuable ways to use Sequencing.com WGS data is for pharmacogenetics: understanding how your genotype affects medication response across antidepressants, blood thinners, pain medications, chemotherapy, and more. Gene2Rx is available on Sequencing.com's App Market, and you can also upload your Sequencing.com VCF directly to gene2rx.com for a full pharmacogenetic report anchored to CPIC and FDA clinical guidelines.
Pharmacogenetic reports are informational. Do not change any medication based solely on a report. Always discuss with your prescribing clinician.
Pharmacogenetics is one of the clearest clinical uses of whole genome data. Your metabolizer phenotypes across CYP2D6, CYP2C19, CYP2C9, SLCO1B1, DPYD, TPMT, and HLA-B are a lifelong profile that informs every medication decision. You only need to know this once. WGS from Sequencing.com gives you the best possible substrate for this analysis.
The Gene2Rx app is available directly on the Sequencing.com App Market. You can run it from within your Sequencing.com dashboard and have the report delivered to your Sequencing.com account. Alternatively, you can download your VCF file from Sequencing.com and upload it to gene2rx.com to run the report there. Same analysis either way; pick whichever workflow fits you.
Gene2Rx reports on 103 medications across every major drug class with published CPIC or FDA pharmacogenetic guidance: psychiatric medications (SSRIs, TCAs, antipsychotics, ADHD drugs), cardiovascular drugs (clopidogrel, warfarin, statins, metoprolol), pain medications (codeine, tramadol, NSAIDs), chemotherapy agents (capecitabine, fluorouracil, mercaptopurine, azathioprine, tamoxifen), immunosuppressants (tacrolimus), infectious-disease drugs (abacavir, efavirenz, voriconazole), and more.
Consumer genotyping arrays (23andMe, AncestryDNA) cover most common pharmacogenetic variants but cannot resolve all CYP2D6 star alleles (particularly the gene duplications and deletions that determine ultrarapid metabolizer status), and they miss rare variants in other genes. WGS reads every position in the genome, so pharmacogenetic interpretation from WGS data is the most complete you can get without a dedicated clinical test.
Here are the pharmacogenes where WGS data gives you an edge over consumer genotyping.
The most clinically important pharmacogene. WGS resolves gene duplications, deletions, and rare star alleles that consumer arrays cannot capture. About 30 percent of CYP2D6 phenotype calls benefit measurably from WGS over array-based genotyping.
Metabolizes SSRIs, clopidogrel, and PPIs. Common variants are well-covered by arrays, but WGS resolves rare alleles more common in non-European populations.
Critical for fluoropyrimidine chemotherapy safety. Some of the most consequential DPYD variants are rare and may not be on consumer genotyping arrays. WGS is the preferred substrate when DPYD testing might affect cancer treatment.
Determines thiopurine safety (azathioprine, mercaptopurine). Deficiency variants are rare but clinically critical. WGS captures the full panel of known TPMT loss-of-function variants.
If you have Sequencing.com WGS data, you have the highest-quality pharmacogenetic substrate available to consumers. Use it.
Pharmacogenetic testing from WGS data is valuable any time you are starting a medication in a class with strong PGx evidence, have had unexplained side effects or lack of response to prior medications, or simply want a lifelong genetic profile informing future prescribing decisions. One report covers you for life.
Learn how genetics may affect your response to these related medications:
Yes. Gene2Rx is available on the Sequencing.com App Market. You can run the analysis from within your Sequencing.com dashboard and have results delivered to your Sequencing.com account.
Yes. If you prefer to work on gene2rx.com directly, download your VCF from Sequencing.com and upload it. The analysis is the same.
Report tiers range from $5 for a starter report to around $64 for the comprehensive WGS report. WGS processing carries a small additional fee over consumer genotyping because of the extra computational work involved in parsing full-genome VCFs.
Sequencing.com offers different sequencing depths; 30x coverage WGS is the clinical standard and is the best substrate for pharmacogenetic analysis. Lower-coverage or targeted sequencing can also produce useful pharmacogenetic calls but with less confidence on rare variants.
Find out how your DNA may influence your response to Sertraline and other medications with a Gene2Rx pharmacogenetics report.
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