Report Changelog

v4.6 brings the report's allele definitions up to date with the latest PharmVar and CPIC releases and adds CYP2D6 Structural Analysis for whole genome customers.

CYP2D6 Structural Analysis

• For whole genome customers with a BAM or CRAM file: measures CYP2D6 deletions, duplications and gene fusions from your sequencing reads, which a VCF alone can't show. How it works.
• Your browser sends only the small sections of your file the analysis needs, and checks before you pay that the file has enough data.

Updated allele definitions

• Star allele definitions now follow PharmVar 6.2.29 and CPIC's current allele function tables.
• SLCO1B1 results use the updated allele names, so some names differ from earlier reports.
• Improved allele calling for some whole genome VCFs and consumer DNA files.

v4.5 is a new way to read your report. It opens as a page you can search, with a page for every medication, and it now covers combination products, hydrocodone and risperidone.

A new report page

• Search for any medication, brand name or drug class, or start from "What are you looking for?"
• A page for each medication and drug class, with your result for each gene in plain language.
• A gene overview that shows what stands out in your results and how common each result is.
• Pro features such as the medication tracker and the Medication Selector, right next to the medications they apply to.
• Two PDFs to download: a short one with every result in plain language, and a detailed one with the full guideline recommendations for your doctor or pharmacist.
• The original report layout is still one click away.

Combination products

• Combination products, such as Norco (hydrocodone and acetaminophen), Tylenol with Codeine, Ultracet and Caduet, now appear in the report. Each one gets its own page showing the guidance for the ingredients your genes affect.
• Each medication lists the combination products it is part of.

New drugs

• Hydrocodone (CPIC): guidance based on CYP2D6.
• Risperidone (DPWG): guidance based on CYP2D6. The report now covers 120 medications.

Updated guidance

• Rewrote the plain-language explanations throughout the report, including the lifestyle interpretations for alcohol, caffeine, nicotine, THC, MDMA, LSD and ketamine.
• Brought several FDA recommendations in line with the current FDA pharmacogenetic table.
• Evidence strengths for CPIC recommendations now match CPIC's current published ratings.
• Aripiprazole, brexpiprazole, clozapine and pimozide now show the Dutch Pharmacogenetics Working Group (DPWG) recommendation next to the FDA one.
• Medications that depend on a gene we could not determine from your data now say "Unable to determine".
• Mivacurium, succinylcholine, capecitabine and fluorouracil now say "Consider alternative" where their guidelines advise avoiding them.
• Small wording fixes in a few recommendations.

• Fixed an issue that prevented some rare insertion and deletion variants from being called correctly.
• Improved metoprolol recommendations for CYP2D6 results.
• Added FDA guidance for tramadol in CYP2D6 poor metabolizers.
• Updated drug class names in a few report sections.

v4.1 was the first version 4 report. It adds hydralazine and topical minoxidil, checks whole genomes for selected RYR1 and CACNA1S variants linked to malignant hyperthermia, and reads results from several genes together, such as TPMT and NUDT15 for thiopurines.

• Targeted RYR1/CACNA1S malignant hyperthermia screening for eligible WGS, covering six volatile anesthetics and succinylcholine; BCHE coverage remains separate.
• Updated combined TPMT/NUDT15 thiopurine interpretations following updated CPIC guidance, plus other multi-gene recommendations.
• Hydralazine/NAT2 information; topical minoxidil/SULT1A1 information about genetic differences in treatment response for array and WGS reports.
• Clarified the wording for people with a normal expected response to topical minoxidil (Rogaine).
• 112 supported array medications and 118 WGS medications. Educational finasteride and dutasteride pages are excluded.
• Saved activity scores and combined interpretations, clearer indeterminate results, and updated gene pages.

Explore the v4 changes.

v3 is the GLP-1 release. It adds weight-management drugs, and pulls in Dutch (DPWG) guidance for the first time.

New drugs

• Weight management (Gene2Rx): semaglutide, tirzepatide, and retatrutide. Guidance uses GLP1R and GIPR genotype. The recommendations come from a 2026 GWAS that connected these receptors to GLP-1 response and nausea.
• DPWG batch: haloperidol (CYP2D6), quetiapine (CYP3A4), zuclopenthixol (CYP2D6), and allopurinol (ABCG2). These are the first Dutch Pharmacogenetics Working Group guidelines included in the report.

New gene coverage

• GLP1R and GIPR, for the new weight-management drugs.
• CYP3A4, with the full PharmVar star-allele set (46 alleles). This is what makes CYP3A4-driven guidance for drugs like quetiapine possible.

Updated guidance

• Two new drug groups: weight management and gout.

Report improvements

• A scoreboard at the top of each drug class that sorts every medication into "use as directed," "use with caution," or "consider an alternative."

v2 was a major expansion of the Gene2Rx report. Drug coverage roughly doubled, statin guidance grew from one drug to seven, and whole-genome uploads were added. v2 also introduced Gene2Rx, a new guideline set providing interpretations for substances that CPIC and the FDA don't cover.

New CPIC drugs

• Statins: atorvastatin, fluvastatin, lovastatin, pitavastatin, pravastatin, and rosuvastatin, joining simvastatin from v1.
• Cardiovascular: metoprolol.
• Antidepressants: venlafaxine and vortioxetine added to CPIC. The existing SSRI and TCA recommendations were updated to match the current CPIC dosing tables.

New FDA drugs

• Atopic dermatitis and oncology: abrocitinib, belzutifan, sacituzumab-govitecan-hziy.
• Cardiovascular and metabolic: clopidogrel, mavacamten, nateglinide.
• Psychiatry and neurology: clozapine, pitolisant.
• Anesthesia and surgery: succinylcholine, mivacurium, carisoprodol, oliceridine.
• Pain and inflammation: meloxicam (FDA).
• Antiepileptics and antifungals: phenytoin and fosphenytoin (FDA), voriconazole (FDA).

Recreational and lifestyle pharmacogenetics (Gene2Rx)

Gene2Rx pharmacogenetic interpretations debuted in v2. They're a set of interpretations for substances that don't have formal CPIC or FDA guidance but where the underlying genetics warrant monitoring for some people:

• alcohol, caffeine, ketamine, LSD, MDMA, nicotine, and THC.

New gene coverage

• BCHE and ABCG2 for the new clinical drugs.
• CHRNA3, CHRNA5, COMT, CYP1A2, CYP2A6, and FAAH for the new recreational and lifestyle interpretations.

New report tiers and file formats

• Starter report, a less expensive option alongside the Psychiatric and Full reports.
• Whole Genome Sequencing (WGS) VCFs are now accepted as uploads. WGS data from Nebula, Dante Labs, Sequencing.com, or Nucleus Genomics goes straight in.
• Broader compatibility with tellmeGen files, and better parsing for MyHeritage files.

Report improvements

• A redesigned report layout, with cleaner drug cards and better typography.
• Shareable cards and a download-as-image button for sending results from your phone.

The original Gene2Rx report. v1 shipped with every CPIC pharmacogenetic guideline that existed at the time, plus the FDA pharmacogenomic associations table.

CPIC drugs

48 CPIC drugs at launch, across psychiatry, pain, oncology, cardiovascular, and infectious disease:

• Antidepressants and TCAs: amitriptyline, citalopram, clomipramine, desipramine, doxepin, escitalopram, fluvoxamine, imipramine, nortriptyline, paroxetine, sertraline, trimipramine.
• Pain and inflammation: celecoxib, codeine, flurbiprofen, ibuprofen, lornoxicam, meloxicam, piroxicam, tenoxicam, tramadol.
• Cardiovascular: simvastatin, warfarin, clopidogrel.
• Oncology: azathioprine, capecitabine, fluorouracil, mercaptopurine, tamoxifen, tegafur, thioguanine.
• Antivirals and antifungals: atazanavir, efavirenz, peginterferon-alfa-2a, peginterferon-alfa-2b, ribavirin, voriconazole.
• Other: atomoxetine, dexlansoprazole, fosphenytoin, ivacaftor, lansoprazole, omeprazole, ondansetron, pantoprazole, phenytoin, tacrolimus, tropisetron.

FDA drugs

The FDA pharmacogenomic associations table added label-level guidance for 51 additional drugs:

• Antipsychotics: aripiprazole, aripiprazole-lauroxil, brexpiprazole, iloperidone, perphenazine, pimozide, thioridazine.
• Antiepileptics: brivaracetam, carbamazepine, clobazam.
• ADHD and stimulants: amphetamine, atomoxetine (FDA).
• Pain and anti-inflammatories: celecoxib (FDA), codeine (FDA), flurbiprofen (FDA), meclizine, metoclopramide, piroxicam (FDA), tramadol (FDA).
• Cardiovascular: carvedilol, propafenone, simvastatin (FDA), warfarin (FDA).
• Oncology and rare disease: belinostat, capecitabine (FDA), deutetrabenazine, eliglustat, erdafitinib, fluorouracil (FDA), gefitinib, irinotecan, nilotinib, pazopanib, siponimod, tetrabenazine, valbenazine.
• Antidepressants: citalopram (FDA), venlafaxine, vortioxetine.
• Infectious disease and immunosuppression: abacavir, azathioprine (FDA), efavirenz (FDA), mercaptopurine (FDA), tacrolimus (FDA), thioguanine (FDA).
• Other: cevimeline, dronabinol, flibanserin, lofexidine, pantoprazole (FDA), tolterodine.

Gene coverage

• CYP2D6, CYP2C19, CYP2C9, CYP3A5, CYP4F2, TPMT, NUDT15, DPYD, VKORC1, SLCO1B1, IFNL3, and CFTR.

Report features

• HTML and PDF report formats with a drug-by-drug breakdown of metabolizer status and dosing recommendations.