Compare the tests in detail
Genavli Screen, the Wellness Genome and the Diagnostic Genome draw on the same knowledgebase, classification framework and report structure. They differ in which modules they carry and in what the underlying assay can physically detect, and the report says so per module.
Three tests, side by side
Genavli Screen
For a healthy person: the clinical genes read at high depth, at lower cost than a whole genome.
- 775 core carrier genes · 600 conditions, reported per person
- Medically actionable findings (84 genes) and pharmacogenomics (96 gene–drug pairs)
- Ancestry and traits, imputed from the low-pass data
- Spinal muscular atrophy, thalassaemia and fragile X by bundled assays
Genavli Wellness Genome
For a healthy person, no symptoms needed: the whole genome, re-readable for life.
- 1,141 carrier genes · 947 conditions, plus novel variants
- Actionable findings and pharmacogenomics, including full CYP2D6
- Ancestry and traits observed, not imputed
- Polygenic scores, research-grade and labelled, calibrated against an Indian reference
Genavli Diagnostic Genome
For a patient with a suspected rare or genetic disorder.
- Every variant ranked against the patient's clinical features (HPO terms)
- Structural variants, copy number, repeat expansions and hard genes such as SMN1 and CYP21A2
- Actionable findings unless the patient opts out
- Optional carrier screening (1,141 genes · 947 conditions) and pharmacogenomics
A blood sample. A low-pass genome backbone for ancestry and traits, plus a high-depth targeted read of the clinical gene set so that rare carrier and actionable variants are observed directly, never inferred. Bundled confirmatory assays cover spinal muscular atrophy, thalassaemia and fragile X, which no short-read method resolves alone. Runs of homozygosity give consanguinity-adjusted residual risk. For screening at scale, where cost is the binding constraint, and for anyone wanting the high-burden Indian content read directly.
30× whole-genome sequencing with the full suite of specialised callers, including the paralogue-aware callers needed for genes ordinary analysis cannot resolve. Every non-diagnostic module, read from the genome itself, and a stored genome that can be reinterpreted as the evidence base grows. For a healthy person who wants to know about their health, medicines and traits, with a genome that can be re-read for life.
30× whole-genome sequencing for a patient with a suspected rare or genetic disorder, interpreted with the patient's clinical features (HPO terms). Nothing has to be anticipated in advance to be found. CYP21A2, GBA1, SMN1 and other hard genes without add-on assays; structural variants, exon-level copy number, mitochondrial genome and repeat expansions. Newborn screening on the whole genome, ordered by the baby's doctor, is also available on the screening backbone. No polygenic scores on the report.
Every figure, and how it is counted
Screening panels are often advertised by a single large number with no stated definition. Those numbers are not comparable between providers, because the counting rule changes the answer by orders of magnitude. Genavli publishes the counting rule beside every figure, here and in every report.
Ask three questions. Is the condition count deduplicated, so one gene with four disease labels counts once? What evidence standard admits a gene to the panel? And are conditions fewer than genes? Several genes commonly cause the same condition, so a panel reporting more conditions than genes is almost certainly counting something else.
Detection status per variant class
Where a class is observed, imputed, covered by a bundled assay or not assessed is stated in every report.
| What is screened | Screen | Wellness Genome | Diagnostic Genome |
|---|---|---|---|
| How it is ordered | By a doctor, or by you with your doctor's prescription | By a doctor, or by you with your doctor's prescription | By a doctor or laboratory |
| Diagnostic interpretation with clinical features (HPO) | Not offered | Not offered | Every variant ranked against the patient's features |
| Newborn screening | Screening backbone option | — | Whole-genome option |
| Couple option | Both partners on Screen | Both partners on the Wellness Genome | Not offered |
| Carrier screening | 775 core genes · 600 conditions | 1,141 genes · 947 conditions | Optional · 1,141 genes · 947 conditions |
| Medically actionable findings (84 genes) | Included | Included | Included; the patient can opt out |
| Pharmacogenomics (96 gene–drug pairs) | Included | Included | Optional |
| Rare pathogenic carrier variants | Observed | Observed | Observed |
| Novel / previously unreported variants | Not assessed | Observed | Observed |
| Ancestry and traits | Imputed | Observed | Not offered |
| Polygenic scores | Not offered | Research-grade, Indian calibration | Not offered |
| Spinal muscular atrophy (SMN1) | Bundled assay | Paralogue-aware caller | Paralogue-aware caller |
| α- and β-thalassaemia | Bundled assay | Sequencing + targeted caller | Sequencing + targeted caller |
| Fragile X (FMR1 CGG repeat) | Bundled assay | Bundled assay | Bundled assay |
| CYP2D6 full diplotype | Partial | Full, incl. deletions, duplications, hybrids | Full, when pharmacogenomics is added |
| Structural variants, inversions, translocations | Not assessed | Observed | Observed |
| Reanalysis without a new sample | Limited to captured content | Full genome reinterpretable | Full genome reinterpretable |
Screening backbone or whole genome: advantages and limitations
Genavli Screen runs on the screening backbone; the Wellness and Diagnostic Genomes run on the whole genome. Couple screening and newborn screening can use either, and the choice decides what the report can see.
Screening backbone
Low-pass genome plus high-depth targeted enrichment of the clinical genes — Genavli Screen
- Costs less than a whole genome.
- Reads the clinical genes at high depth, so rare carrier and actionable variants in them are observed directly, never inferred.
- Bundled confirmatory assays cover spinal muscular atrophy, thalassaemia and fragile X.
- Ancestry and traits come from the low-pass data, without a second test.
- Only the targeted genes are read at clinical depth. Variants outside the targets (other genes, most non-coding and deep intronic changes, many structural variants and repeat expansions) are not assessed.
- Novel or previously unreported variants are not assessed; ancestry and traits are imputed, not observed.
- CYP2D6 is only partly resolved.
- Later reanalysis is limited to what was captured.
Whole genome
30× whole-genome sequencing — Wellness and Diagnostic Genomes
- Reads all genes and the regions between them, so novel variants are observed and nothing has to be anticipated in advance.
- Finds structural variants, exon-level copy number, repeat expansions and the mitochondrial genome.
- Specialised callers resolve SMN1, thalassaemia, CYP21A2, GBA1 and full CYP2D6 without add-on assays.
- Can be reanalysed for new genes as knowledge grows, without a new sample.
- Costs more and generates more data.
- Produces more findings that need careful interpretation.
- Fragile X still needs a bundled assay; repeat expansions longer than a read are reported as unconfirmed until orthogonally tested.
Seven report modules, one evidence standard
All three tests draw on the same knowledgebase, classification framework and report structure. They differ in which modules they carry and in what the underlying assay can physically detect, and the report says so per module.
On the Diagnostic Genome: every variant ranked against the patient's clinical features (HPO terms) for a diagnosis. Newborn screening, ordered by the baby's doctor, runs on the whole genome or on the screening backbone.
Per-person carrier status for autosomal-recessive and X-linked conditions, with residual risk after a negative result, and a joint report when both partners of a couple are tested.
The 84 ACMG SF v3.3 genes, reported at individual level under separate consent, with a stated management pathway.
96 CPIC Level A gene–drug pairs with the diplotype, the phenotype and the prescribing guidance that follows from it.
Runs of homozygosity measured from the assay, not assumed from a pedigree, feeding consanguinity-adjusted risk.
Wellness report, separate from the clinical report: ancestry composition and research-grade traits with Indian reference percentiles. On the Wellness Genome only, polygenic scores calibrated against an Indian reference, labelled research-grade.
Whole genomes are stored and can be reinterpreted when the knowledgebase changes, without a new sample. Existing data (VCF, BAM, CRAM or FASTQ) can be brought for interpretation: wellness-level results when an individual registers it with their own doctor's prescription, diagnostic-level when a doctor or laboratory orders it.
Scope and regulatory position
- Screening tests and a diagnostic test. Genavli Screen and the Wellness Genome are screening tests: a negative result reduces but does not eliminate risk, and residual risk is stated per condition. The Diagnostic Genome is a diagnostic test, ordered by a doctor or laboratory.
- Every test is ordered by a doctor. For Genavli Screen and the Wellness Genome an individual can register and order with a written prescription from their own doctor, on the doctor's prescription pad and naming the test; the order is accepted only once Genavli staff have checked the prescription and confirmed it with the doctor. The doctor's details, including their email, are taken at registration; the doctor receives the results too, and the person is responsible for discussing them with their doctor. The Diagnostic Genome is ordered by a doctor or laboratory. Existing sequencing data registered by an individual with their doctor's prescription receives wellness-level results; ordered by a doctor or laboratory, diagnostic-level. Consent for actionable findings is taken separately from carrier screening.
- Genetic counselling where the result calls for it. A session is included at no extra charge when the report has a medically actionable finding, a carrier result relevant to having children, or a positive Diagnostic Genome result; for any other result a session can be booked on demand for an additional fee.
- Pre-conception and postnatal use only. No prenatal diagnosis, no embryo testing, no pre-implantation testing; fetal sex is never determined.
- No polygenic scores on clinical reports. Never on a Diagnostic Genome report. Scores derived from European cohorts do not transfer reliably; on the Wellness Genome they are calibrated against an Indian reference and labelled research-grade.
- Data handling. Genomic data of Indian residents is processed and stored within India under the DPDP Act, 2023; community and ancestry information is never printed on a clinical report or made group-queryable.
Every report carries per-section limitation statements naming what was not assessed and how it can be covered. No screening test detects everything; a report implying otherwise is the more dangerous product.
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