Whole genome sequencing

Comprehensive genome sequencing to advance diagnosis

For patients with clinical features that do not fit within one disorder, with developmental or intellectual delay, or patients with a suspected genetic disorder that could have many underlying genetic causes, whole genome sequencing (WGS) is one of the most exhaustive, cost-effective genetic testing methods available.

WGS can detect variants in the non-coding region of DNA, certain spinal muscular atrophy variants, repeat expansions, and mitochondrial variants, potentially avoiding the need to order additional testing.

up to 65%

21%–65% of patients had direct changes to care based on WES or WGS results; higher likelihood of impact dependent upon timing of testing and patient population^1,2,3

16%-56%

16%–56% diagnostic yield overall; higher yields experienced when WGS is used as a first-tier test or in cohorts with specific phenotypes^1,2,3,4,5

up to 30%

7%–30% increased diagnostic yield with WGS after prior negative test result, including whole exome sequencing^2,5,6

Whole genome sequencing Test menu

Whole genome sequencing

Comparator testing

Familial variant testing

Whole genome sequencing

As a first-tier test for diagnosing hereditary disorders, WGS detects single nucleotide variants, small insertions and deletions, copy number variants, mitochondrial genome variants, and select spinal muscular atrophy and repeat expansion variants throughout the genome. Our WGS test utilizes next-generation sequencing to interrogate nearly every base pair of an individual’s DNA, including the mitochondrial genome.

Key testing

WGSDX | Whole Genome Sequencing for Hereditary Disorders, Varies
- Used as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders.
- Serves as a second-tier test for patients whose previous genetic testing was negative.
- Provides a potentially cost-effective alternative to establishing a molecular diagnosis compared to performing multiple independent molecular assays.
- Better understanding of the natural history/prognosis.
- Targeted management (anticipatory guidance, management changes, specific therapies).
- Predictive testing of at-risk family members.
- Testing and exclusion of disease in siblings or other relatives.
- Recurrence risk assessment.
WGSR | Whole Genome Sequencing Reanalysis, Varies
- Reanalysis of previously generated genome sequencing data.

Learn more Whole exome and genome sequencing information and test ordering guide

Highlights

Diagnostic Exploratory Testing

In this month's "Hot Topic," Nicole Boczek, Ph.D., assistant professor and laboratory director in the Department of Laboratory Medicine and Pathology, and Sarah Barnett, M.S., CGC, discuss diagnostic exploratory testing, explain why it’s important to the field of many specialty practice areas, and help determine which testing may be the most valuable for a given patient.

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Familial Variant Targeted Testing (FMTT)

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

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Whole genome sequencing streamlines diagnosis

Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, explain how Mayo Clinic Laboratories' whole genome sequencing provides comprehensive information for rapid diagnosis of hereditary disorders.

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Comparator testing

Mayo Clinic Laboratories’ approach to whole genome sequencing includes gathering samples from biological parents of affected individuals, when possible, to compare and contextualize test results. These comparator specimens assist with result interpretation and increase the diagnostic yield of the testing. Each WGS order is carefully reviewed by a team of genetic counselors, who ensure the indication for test ordering is clinically appropriate.

Key testing

CMPRG | Family Member Comparator Specimen for Genome Sequencing, Varies
- Improves diagnostic yield by sending one or more family members.
- Enables the analysis of duos, trios, nontraditional trios, or quads.

Familial variant testing

Familial testing can help assess segregation of variants previously identified in a family member.

Key testing

FMTT | Familial Variant, Targeted Testing, Varies

Highlights

Familial Variant Targeted Testing (FMTT)

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References

NICUSeq Study Group, Krantz ID, Medne L, et al. Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial [published correction appears in JAMA Pediatr. 2021 Dec 1;175(12):1295]. JAMA Pediatr. 2021;175(12):1218-1226. doi:10.1001/jamapediatrics.2021.3496
100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, et al. 100,000 Genomes pilot on rare-disease diagnosis in health care — preliminary report. N Engl J Med. 2021;385(20):1868-1880. doi:10.1056/NEJMoa2035790
French CE, Delon I, Dolling H, et al. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med. 2019;45(5):627-636. doi:10.1007/s00134-019-05552-x
Turro E, Astle WJ, Megy K, et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature. 2020;583(7814):96-102. doi:10.1038/s41586-020-2434-2
Carss KJ, Arno G, Erwood M, et al. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. Am J Hum Genet. 2017;100(1):75-90. doi:10.1016/j.ajhg.2016.12.003
Alfares A, Aloraini T, Subaie LA, et al. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing. Genet Med. 2018;20(11):1328-1333. doi:10.1038/gim.2018.41

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