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One test, more answers with Whole Genome Sequencing

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Whole Genome Sequencing through Baylor Genetics is a comprehensive test that covers up to 98% of the whole human genome.

The exome accounts for only 1 – 2% of the whole genome making WGS the most comprehensive test for your patient.

Advancements in next-generation sequencing technology are poised to revolutionize diagnostic testing by the introduction of Whole Genome Sequencing (WGS). Your patient and family may have spent years undergoing multiple genetic testing without avail, which is why WGS may be the perfect test to potentially end their diagnostic odyssey. Alternatively, you may be managing a new patient or newborn with complex medical issues for whom a comprehensive approach would be the appropriate first-line test.

WGS is a powerful tool for detecting known and potential disease-causing variations. While other traditional genetic tests, such as whole exome sequencing and chromosomal microarray analysis, impart only particular changes in a patient’s DNA, WGS is advantageous as a single test to detect variants that may not be amenable to current genetic testing.

WGS can capture virtually all disease-causing genetic variations including single-nucleotide variants, small insertion/deletions, copy number variants, absence of heterozygosity (AOH), mitochondrial variants, and trinucleotide repeats. WGS has multiple applications ranging from being an effective diagnostic strategy for the clinical diagnosis of genetic and inherited disorders to treatment planning and pharmacogenomic uses.

Whole Genome Sequencing (WGS) is comprehensive genetic testing which assesses the vast majority of the human genome and is a powerful tool for detecting known and potential disease-causing variations. Other genetic tests, such as whole exome sequencing and chromosomal microarray analysis only detect specific types of disease-causing variants. WGS is a comprehensive single test that detects a broad range of variants that may not be identified on more targeted genetic testing. 

WGS captures virtually all disease-causing genetic variations including single-nucleotide variants, small insertion/deletions, and copy number variants. WGS also captures variants within the mitochondrial DNA as well as trinucleotide repeats, adding additional utility compared to other tests.

WGS should be considered for symptomatic patients lacking a sufficient personal or family history to suggest a specific genetic (or non-genetic) cause for intellectual disability,

developmental delay, autism spectrum disorder, or multiple congenital anomalies, or if previous targeted testing or whole exome sequencing (WES) was uninformative. 

Finding the reason for your patient’s medical condition can be life changing. Results provide treatment options, inform medical management, and open additional research opportunities so you can focus on the best care for your patient.

Rapid Trio WGS

Rapid Duo WGS

Rapid Proband WGS

Test Code

1822

1823

1829

Consent

REQUIRED

REQUIRED

REQUIRED

Parents Needed

REQUIRED

REQUIRED

NOT REQUIRED

Parental Report Included

NOT INCLUDED

TAT (days)

5

5

5

Can Elect to Receive Incidental Finding(s)

Raw Data Available

Indications for Testing

MULTIPLE CONGENITAL ANOMALIES

AUTISM SPECTRUM DISORDERS

NEURODEVELOPMENTAL DISORDERS

DEVELOPMENTAL DELAY

INTELLECTUAL DISABILITY

FAILURE TO THRIVE

DYSMORPHIC FEATURES

EPILEPSY SYNDROMES

PATIENTS WITH AN EXTENSIVE DIFFERENTIAL DIAGNOSIS

PREVIOUS GENETIC TESTING UNINFORMATIVE

Trio WGS

Duo WGS

Proband WGS

Test Code

1800

1803

1810

Consent

REQUIRED

REQUIRED

REQUIRED

Parents Needed

REQUIRED

REQUIRED

NOT REQUIRED

Parental Report Included

TAT (weeks)

3

3

 3

Can Elect to Receive Incidental Finding(s)

Raw Data Available

Indications for Testing

MULTIPLE CONGENITAL ANOMALIES

AUTISM SPECTRUM DISORDERS

NEURODEVELOPMENTAL DISORDERS

DEVELOPMENTAL DELAY

INTELLECTUAL DISABILITY

FAILURE TO THRIVE

DYSMORPHIC FEATURES

EPILEPSY SYNDROMES

PATIENTS WITH AN EXTENSIVE DIFFERENTIAL DIAGNOSIS

PREVIOUS GENETIC TESTING WAS UNINFORMATIVE

Positive Results

Positive or “abnormal” results mean there is a genetic change related to the patient’s medical issues. Positive results can include the following types of genetic changes:

Related to the Patient’s Indications

  • Single nucleotide variants/indels (SNV)
  • Short Tandem Repeats (STR) for 27 genes 
  • Mitochondrial Genome variants 
  • Copy number variants (CNV)
    • Structural variants (SV)
    • Absence of Heterozygosity (AOH)
    • Uniparental Disomy (UPD)

Negative Results

Negative results mean no relevant genetic change could be detected using WGS. Genetic testing, while highly accurate, might not detect a change present in the genes tested. This can be due to limitations of the information available about the genes being tested, or limitations of the testing technology. 

Results of Unclear Significance

WGS can detect change(s) in DNA that do not have a clear meaning known as a variant of uncertain significance (VUS). Every person has changes in their DNA; not all of these changes cause medical issues. Studies of family members may help resolve the uncertainty. As our understanding of genetics increases, it may also be possible to determine the significance of these variants. 

Negative Results

ACMG Secondary Findings
The American College of Medical Genetics (ACMG) has published guidelines for the reporting of medically actionable or secondary findings (PMID:34012068). These guidelines include a list of genes, which are updated occasionally, that are considered medically actionable and indicate laboratories should report pathogenic (disease-causing) findings in these genes. These findings are available on an opt-in basis.

Potentially Clinical Significant Findings in Genes With No Known Disease Association (Trio Only)
Rare variants in candidate genes for which there is limited available evidence of disease association. Relevant rare homozygous, hemizygous, compound heterozygous, and/or de novo variants are reported. The variants reported within this category will be classified as of uncertain significance. Any relevant literature will be referenced when available. Further information would be required to understand if any human disease association exists. These findings are available on an opt-in basis.

Incidental Findings
Medically actionable variants are changes found in genes known to be associated with disease but not associated with the current symptoms or clinical presentation. These variants are reported as they may cause severe, early-onset disease or may have implications for treatment and prognosis. These findings are available on an opt-in basis.  

Test Code

1800

Specimen Types

   

Consent

REQUIRED

Parents Needed

REQUIRED

Parental Report Included

TAT (weeks)

 8 – 10

Can Elect to Receive Carrier Finding(s)

Can Elect to Receive Incidental Finding(s)

Raw Data Available

Indications for Testing

MULTIPLE CONGENITAL ANOMALIES

AUTISM SPECTRUM DISORDERS

NEURODEVELOPMENTAL DISORDERS

DEVELOPMENTAL DELAY

INTELLECTUAL DISABILITY

FAILURE TO THRIVE

DYSMORPHIC FEATURES

EPILEPSY SYNDROMES

PATIENTS WITH AN EXTENSIVE

DIFFERENTIAL DIAGNOSIS

Positive Results

Positive or “abnormal” results mean there is a genetic change related to the patient’s medical issues. Positive results can come in the form of the following genetic changes:

Related to the Patient’s Indications

  •  Single nucleotide variants/indels
  • Copy number variants (CNV)
    • Structural variants (SV)
    • Absence of Heterozygosity (AOH)

Unrelated to the Patient’s Indications (Opt-in only)

  • Carrier findings
    • Disorders recommended by the ACMG & ACOG
  • Incidental findings
    • Incidental findings recommended by the ACMG

Negative Results

A genetic change related to the patient’s issues was not detected using this test. This does not guarantee that the patient is free from genetic disorders.

Results of Unclear Significance

WGS can detect change(s) in DNA that do not have a clear meaning known as a variant of uncertain significance (VUS). Every person has changes in their DNA; not all these changes cause medical issues. Studies of family members may help resolve the uncertainty.

Incidental Findings

WGS can sometimes detect a change in a person’s DNA unrelated to the reason for the sample being sent for testing. If this change is medically significant, it is called an incidental finding. Possible incidental findings include mutations that increase a person’s risk for cancer or heart disease. It is optional to receive results on incidental findings. Information regarding adult-onset dementia syndromes, such as Alzheimer’s disease, or other adult-onset neurological conditions will not be reported

All it takes is one test to get more answers
PRODUCT OVERVIEW
REQUISITION
Specimen Requirements

Extracted DNA

SAMPLE TYPE REQUIREMENTS SHIPPING CONDITIONS

Blood

Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc for adults/children or 3 cc for infants < 2 years.

Attach clinical notes and concurrent laboratory reports.

Ship at room or refrigerated temperature in an insulated container by overnight courier. Do not heat or freeze. Specimen should arrive in the laboratory within 24-48 hours of collection.

Buccal Swab

Collect with ORAcollect•Dx (OCD-100) self-collection kit (provided by Baylor Genetics with instructions).

We highly recommend the sample be collected by a healthcare professional.

Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.

Cultured Skin Fibroblasts

Send 2 T25 flasks at 80-100% confluence.

Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Cell line specimens should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.

Extracted DNA

Send at least 20 ug with a minimum average concentration of 50 ng/μL.

Attach clinical notes and/or concurrent laboratory reports as applicable. Extracted DNA will only be accepted if the isolation of nucleic acids for clinical testing occurs in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS.

Ship at room temperature in an insulated container by overnight courier. May also be shipped frozen on a minimum of 10 lbs of dry ice in an insulated container by overnight courier.

Saliva

 

Collect with Oragene DNA Self-Collection Kit.

Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
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How It Works:

Order appropriate testing for your patient.

The patient’s sample is collected.

The patient’s sample is sent to Baylor Genetics.

StartingAt5Days

Results are sent to the physician.

Discuss the results with the patient.

More questions? Please contact us by calling 1.800.411.4363.

Christine Eng
Christine Eng
MD
Chief Medical Officer, Chief Quality Officer
MicrosoftTeams-image
Pengfei Liu
PhD
Associate Clinical Director, NGS/Molecular 
Performance of Whole Genome Sequencing

A summary of the analytical validation to determine performance of a Whole Genome Sequencing test and implications of testing in the NICU environment. Read the full white paper by clicking here.

Rapid Whole Genome Sequencing (rWGS) As A First-Tier Test For Critically Ill Children With Suspected Genetic Etiology

Dai, H. Platform Presentation at ASHG 2022.

Comparison of positive findings between CMA/exome combo and Whole Genome Sequencing: A clinical lab experience

Zhao, X, et, al. Poster presented at ASHG 2022.

Mitochondrial variants and short tandem repeat expansions detected by clinical whole genome sequencing.

Schulze, K, et, al.  Poster presented at ASHG 2022.

Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing

Liu, P., & Vossaert, L. (2022). Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing. Prenatal diagnosis, 42(6), 686–696.PMID: 35416301.

Best practices for the interpretation and reporting of clinical whole genome sequencing

Austin-Tse, C. A., Jobanputra, V., Perry, D. L., Bick, D., Taft, R. J., Venner, E., Gibbs, R. A., Young, T., Barnett, S., Belmont, J. W., Boczek, N., Chowdhury, S., Ellsworth, K. A., Guha, S., Kulkarni, S., Marcou, C., Meng, L., Murdock, D. R., Rehman, A. U., Spiteri, E., … Medical Genome Initiative* (2022). Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ genomic medicine, 7(1), 27. PMID: 35395838.

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

Borja, N., Bivona, S., Peart, L. S., Johnson, B., Gonzalez, J., Barbouth, D., Moore, H., Guo, S., Undiagnosed Disease Network, Bademci, G., & Tekin, M. (2022). Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Molecular Genetics & Genomic Medicine, 10(4), e1892. https://doi.org/10.1002/mgg3.1892. PMID: 35247231.

Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory

Meng, L., Attali, R., Talmy, T., Regev, Y., Mizrahi, N., Smirin-Yosef, P., Vossaert, L., Taborda, C., Santana, M., Machol, I., Xiao, R., Dai, H., Eng, C., Xia, F., & Tzur, S. (2023). Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 25(6), 100830. Advance online publication. PMID: 36939041.