Rapid FulGenome | Whole Genome Sequencing

The evidence for rWGS

The case for sequencing first

Rapid whole genome sequencing is well documented in the critical-care literature. Here is what the published evidence shows about the modality.

Figures in this section are from the published rWGS literature, not Fulgent outcomes data.

~3 days

median time to diagnosis with rWGS1

1 in 3

critically ill infants get a change in management from the result1,2

< 5%

of eligible patients currently receive rWGS3

Used first-line, rWGS changes management in up to 87% of diagnosed babies4,a and saves up to $15,786 per child sequenced,1 largely by shortening hospital stays.

What a diagnosis can change

•Minimizes invasive procedures: rWGS diagnoses have allowed clinicians to avoid biopsy and other invasive workup.5

•Redirects to targeted treatment: documented changes include initiating factor replacement and genome-informed adjustments to pharmacotherapy.5

•Defines recurrence risk: a molecular diagnosis gives families clear recurrence information for future pregnancies.

Guidelines and payer coverage are evolving

•ACMG recommends exome or genome sequencing as first- or second-tier testing for congenital anomalies, developmental delay, and intellectual disability.6

•State Medicaid coverage is increasing over time, with commercial payers following.7

Get the Evidence Brief→

References

1. PMID 34089648 · 2. PMID 38440187 · 3. PMID 38413639 · 4. PMID 39999847 · 5. PMID 31246743 · 6. PMID 34211152 · 7. Rady Children’s Institute for Genomic Medicine, Payer Policy & Advocacy. radygenomics.org

a. The 87% (ref. 4) is among diagnosed newborns. The figure is roughly 41% for all newborns tested. Project Baby Bear (ref. 1) reports 32% of all infants tested with a major change in medical care.

Why Rapid FulGenome

Built for the hours that matter

What Fulgent brings to rapid whole genome sequencing, from turnaround to the breadth of a single test.

Standard workup

Takes weeks

Rapid WGS

Gets there in days

Rapid FulGenome

Preliminary report in as few as 2 days

An urgency progression, not a head-to-head comparison. The literature figure and the Rapid FulGenome turnaround describe different endpoints.

One comprehensive test

A single whole genome test can detect six variant classes at once, so you stop ordering sequentially.

SNVs

CNVs

Genome-wide del/dups

Mitochondrial variants

Repeat expansions

Regions of homozygosity

Fast enough to act on

Preliminary report in as few as 2 days: the most relevant pathogenic and likely pathogenic variants, so you can act while comprehensive review continues.

RNA-integrated analysis (RISE)

An optional add-on to help increase diagnostic yield and resolve variants of uncertain significance.

Reanalysis included

Reanalysis is included as part of your original test order, if the phenotype evolves (limitations apply).

The download

The evidence, ready to bring to your committee

A clinical evidence brief a clinician champion can take to a NICU committee or medical director to make the case for adopting rapid whole genome sequencing.

•The published stats, with citations you can check

•What a diagnosis can change at the bedside

•Where guidelines and payer coverage currently stand

•How Rapid FulGenome fits a NICU/PICU workflow