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Evidence-based science

 

We are intentionally selective about the conditions we test for.

 

Genetic Insights includes tests focused on genetic conditions that:

 

♦ Have a relatively high incidence in the general population or are associated with increased risk to develop certain health conditions.

♦ Have clear steps that can be followed, in partnership with a healthcare provider, to improve health. 

 

For example, the test includes familial hypercholesterolemia (FH)1,2:

 

♦ The prevalence of FH is estimated to be between 1 in 200 and 1 in 500.

♦ FH is associated with an increased risk for heart conditions or stroke due to very high cholesterol levels from an early age. 

♦ Early treatment with medications can mitigate serious downstream events such as premature atherosclerotic cardiovascular disease. 

Next-generation sequencing (NGS) technology

 

This test uses NGS technology which can detect more variants than standard microarray technology, a commonly used technology in other consumer genetic tests. 

 

The NGS technology included in Genetic Insights is designed to detect single nucleotide variants (SNVs) and small insertions and deletions (indels) primarily within the protein coding regions of the genes included in the test. Variant interpretation is performed using validated methods developed by Quest Diagnostics.

 

In accordance with expert guidelines for population-based genetic screening, only variants determined to be likely pathogenic or pathogenic are reported.3,4  Variants of uncertain significance (VUS), likely benign, or benign variants are not reported.

 

Variant types such as large DNA deletions or duplications, copy number variants, or rearrangements are not detected by this test.

 

The classification of reportable variants will be reviewed on an ongoing basis per Quest Diagnostics standard procedures. In the rare event that a reported variant changes pathogenicity classification, the PWN network provider and the customer will be notified so appropriate follow-up action can be taken.

Accuracy

 

Genetic Insights is an elective screening test. The test is developed and validated by Quest Diagnostics in accordance with recommendations from the Association for Molecular Pathology and the American College of Medical Genetics.3,4

 

The analytical validation studies for this test showed >95% sensitivity and >99% specificity for detection of SNVs and >75% sensitivity and >98% specificity for indels.

 

If a pathogenic or likely pathogenic variant is identified, the result should be confirmed and/or used in combination with diagnostic testing before other action is taken.

 

And if no DNA variants are reported, while it would be unlikely in most cases, having a DNA variant associated with the condition of interest and/or genes included cannot be definitively ruled out by this test. That’s because there are certain types of DNA variants this test is not intended to identify, and because there may be genes associated with the hereditary condition that are not included in the test. Therefore, additional genetic testing may be indicated in the event of a negative test result especially if there is a relevant personal or family health history.

 

Read more about the genes and conditions included in Genetic Insights.  

References

  1. Lambert CT, Sandesara P, Isiadinso I, et al. Current Treatment of Familial Hypercholesterolaemia. Eur Cardiol. 2014;9(2):76-81. doi:10.15420/ecr.2014.9.2.76. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159444/ 
  2. Singh S, Bittner V. Familial hypercholesterolemia--epidemiology, diagnosis, and screening. Curr Atheroscler Rep. 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857. https://www.ncbi.nlm.nih.gov/pubmed/25612857
  3. Murray MF, Giovanni MA, Doyle DL, et al. DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(6):989-995. doi:10.1038/s41436-020-01082-w
  4. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30
The Genetic Insights test was developed and is performed by Quest Diagnostics. The test results are not diagnostic and do not determine the overall chance of developing a disease or health condition. The tests are not cleared or approved by the US Food and Drug Administration. Individuals should consult a healthcare provider before taking any action based on test results, including before making any treatment, dietary, or lifestyle changes. 
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