Where to actually get a genome read

Targeted NGS, MLPA for CNVs, ACMG/AMP classification

Variants in 70–90+ cancer-predisposition genes, classified P/LP/VUS/LB/B with ClinGen-aware curation.

Confirmed/strong family history of cancer; meets NCCN testing criteria.

Multi-gene panels are the standard of care; 25–60% of pathogenic findings are outside the syndrome originally suspected.

WES (Illumina), reflex to mtDNA, optional WGS, AI-assisted phenotype matching.

Diagnostic report on rare-disease variants with HPO-aligned phenotype matching.

Undiagnosed pediatric or adult patients after non-diagnostic targeted testing.

WES diagnostic yield ~25–40% in unselected rare-disease cohorts; WGS adds ~5–10 percentage points and structural variants.

Targeted NGS panel, optional pharmacogenomics add-on, telegenetic counseling.

Pathogenic variants in 30 cancer-related genes (or 30 cardiac genes), counselor consult included.

Population-screening employer programs; lower price point than Invitae but narrower panels.

Used in CDC-funded population screening pilots (Geisinger MyCode-style).

NGS + del/dup, RNA reflex for splice-site VUS.

Hereditary cancer / cardio / neuro panels.

When RNA-level reclassification of splice variants matters (e.g. BRCA1/2 splice VUS).

+RNAinsight reflex reclassifies a non-trivial fraction of splice-site VUS each year.

48-gene panel + ancestry-aware breast-cancer PRS (RiskScore).

Monogenic risk + integrated PRS-modified residual lifetime risk.

Breast-cancer risk stratification when monogenic testing is negative.

RiskScore now ancestry-calibrated (2022 update); useful for screening-frequency decisions.

Targeted PGx genotyping + CPIC-mapped phenotype interpretation.

Star-allele genotypes for CYP2D6/2C19/2C9, VKORC1, SLCO1B1, TPMT/NUDT15, DPYD, HLA-B*15:02/57:01, etc.

Before psychiatric polypharmacy, fluoropyrimidine chemo (DPYD), thiopurines (TPMT/NUDT15), warfarin/clopidogrel switches.

CPIC guidelines exist for >100 drug-gene pairs; PGx testing is standard of care for DPYD and TPMT.

27-gene PGx panel; integrates with EHR for clinical decision support.

CPIC-aligned drug-gene interaction report covering 340+ medications.

Health-system-wide preemptive PGx programs.

Used in several health-system PGx-on-EHR deployments.

SNP-based cfDNA NIPT (fetal fraction-aware); Horizon expanded carrier (274 conditions).

Aneuploidy + selected microdeletions; carrier status.

Routine prenatal aneuploidy screening; preconception carrier panels.

ACOG/SMFM endorse NIPT for trisomy 21/18/13 across risk strata; microdeletion screening remains optional with lower PPV.

Targeted cfDNA microarray.

Trisomy 21/18/13, sex chromosome aneuploidies.

Same indications as Panorama in many practices.

Long published track record; among the most-validated NIPT assays.

FFPE tissue or plasma cfDNA hybrid-capture comprehensive genomic profiling (CGP); >300 genes; TMB, MSI, HRD signal.

Companion-diagnostic level reporting linked to FDA-approved targeted therapies.

Therapy selection in advanced solid tumors; companion diagnostic for multiple FDA-labeled drugs.

FDA-approved CDx for many tumor-agnostic and tumor-specific indications.

Plasma ctDNA NGS (Digital Sequencing); methylation-aware Reveal for residual disease.

Targetable alterations (Guardant360); MRD signal in colorectal, breast, lung (Reveal).

Liquid biopsy at progression; MRD monitoring after curative-intent surgery.

Multiple prospective ctDNA-MRD trials show prognostic separation in CRC and breast.

Tumor-WES designs personalized 16-variant cfDNA panel; bespoke per patient.

Detectable / Not-detectable ctDNA at each draw; quantitative MTM/mL.

Recurrence surveillance and adjuvant-therapy decision support across colorectal, breast, bladder, lung.

GALAXY/CIRCULATE-Japan, BESPOKE, and INTERCEPT readouts show strong prognostic separation.

648-gene tissue panel (xT); methylation-based ctDNA MRD (xM).

Therapy-matching CGP; MRD signal across multiple tumor types.

CGP integrated with EHR-based real-world evidence; methylation MRD where mutation-based assays underperform.

xM is one of the few methylation-based commercial MRD tests.

Whole-exome + whole-transcriptome on tissue; multi-modal blood assay (Assure).

Mutation, fusion, expression, and IHC signature-based therapy matching.

When transcriptome adds clinical signal (e.g. fusion calling, immune signatures).

Caris-MI is one of the few RNA-inclusive routine CGPs.

Methylation cfDNA classifier across >50 cancer types; tissue-of-origin prediction.

Cancer-signal detected / not detected + predicted origin.

Adults 50+ as adjunct to standard-of-care screening, in informed-choice settings.

PATHFINDER-2 / NHS-Galleri RCTs ongoing; sensitivity rises with stage; specificity ~99.5%.

Illumina EPIC array methylation; second-/third-gen clocks (PhenoAge, GrimAge2, DunedinPACE, OMICmAge).

Biological age, pace of aging, immune subtype scores.

Longitudinal lifestyle/intervention tracking in research and motivated consumer settings.

Second-gen clocks (GrimAge2, DunedinPACE) predict mortality and morbidity in independent cohorts.

Saliva methylation; clock derived from Yale collaboration.

Biological age + cumulative report over time.

Consumer-facing biological age tracking.

Less peer-reviewed validation than TruDiagnostic's GrimAge/DunedinPACE pipeline.

Bisulfite sequencing-based Horvath-style clock (urine or blood).

DNA methylation age estimate.

Independent comparator to array-based clocks.

Uses original Horvath 2013 model — first-gen, less mortality-predictive than 2nd/3rd-gen clocks.

Genome-wide PRS computed from genotyping/WGS; ancestry-calibrated.

Percentile risk + 10-year risk modifier integrated with classical risk models.

Ancestry-aware PRS layered on top of QRISK/ASCVD/Tyrer-Cuzick.

Multiple peer-reviewed PRSs published; Allelica's CAD score is a US FDA Breakthrough-designated tool.

Embryo PGT-A + PGT-P (polygenic) on IVF embryos.

Polygenic risk scores for selected traits/diseases on day-5 embryos.

Counseling-only — selecting one embryo over another from a small cohort.

Per-embryo absolute risk reduction is small (typically a few percentage points); ESHRE/ASRM remain cautious.

Clinical-grade short-read WGS; CLIA/CAP lab partner.

Full WGS download + curated reports across monogenic, pharmacogenomic, and polygenic traits.

Tech-literate consumers who want raw VCF/CRAM and broad reporting.

Sequencing chemistry is clinical-grade; report interpretations vary in evidence quality.

Short-read WGS at 0.4× / 30× tiers.

Raw FASTQ/BAM + ancestry, traits, ongoing reports.

Affordable WGS data ownership; raw-data export friendly.

Sequencing is real WGS — but low-coverage variants need imputation, which has known accuracy limits.

Short-read 30× WGS; long-read add-on options.

Raw data + an array of optional clinical reports.

Lowest-cost route to raw 30× WGS data.

Quality of clinical reports is uneven; raw data is generally fine.

WGS sequencing + an app marketplace that re-analyzes uploaded raw data.

WGS report + ecosystem of third-party 'apps' generating supplementary analyses.

Consumers who want to layer multiple analyses on top of one genome.

Ecosystem quality is highly variable — some apps are well-validated, many are not.

Custom Illumina genotyping array (~600k SNPs).

FDA-authorized reports for selected BRCA1/2 founder variants, MUTYH, LRRK2, APOE, several PGx variants, plus ancestry/traits.

Limited screening of specific founder variants; ancestry interest.

Reports cover specific variants only — a negative 23andMe BRCA report does not exclude pathogenic BRCA variants.

Genotyping array (no FDA-authorized health reports).

Ancestry composition + relative-matching.

Genealogy.

Not a clinical product.

Genotyping array; some health reports in select jurisdictions.

Ancestry, ethnicity, optional health traits.

Genealogy with optional consumer health overlay.

Health reports vary by region; not equivalent to clinical genetic testing.

Genotyping array with regional ancestry resolution; wellness add-ons.

Ancestry + nutrition/fitness 'wellness' reports.

Genealogy with wellness curiosity.

Wellness reports are entertainment-grade; do not use for clinical decisions.