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Trio whole exome sequencing
More accurate diagnosis.
Faster results.
More informed decisions.
Trio whole exome sequencing:
when time matters,
precision is everything.
Recent studies, such as the one published in JAMA by Baylor College, show that trio whole exome sequencing is one of the most effective tools for diagnosing genetic disorders. In this study, rapid trio sequencing enabled the diagnosis of 50.8% of patients, in comparison to 32.4% with individual analysis.
In critical contexts, such as pediatric or prenatal units, this approach significantly improves diagnosis rates in comparison to individual sequencing, offering more accurate and clinically relevant results.
Detect monogenic disorders faster and more accurately in patients suspected of suffering from genetic disease, improving clinical decisions and shortening response times. It is particularly effective for neuropediatric diseases, metabolic disorders, skeletal dysplasia, cystic kidney disease, congenital heart defects, and other complex disorders.
Why do we recommend trio whole exome sequencing?
IMPACT Trio whole exome sequencing—from the patient and their parents—not only enhances diagnosis, it also reduces uncertainty, avoids unnecessary testing, and allows us to make faster clinical decisions by more accurately identifying the genetic cause of complex disorders.
The whole exome analyzes the part of the DNA that encodes proteins (less than 2% of the genome), where over 85% of clinically relevant variants are found. This analysis, which encompasses around 22,000 coding genes and detects between 3,000 and 4,000 genes with respect to the reference genome, is performed using DNA capture and sequencing techniques.
However, the real leap in diagnostic efficiency comes from the trio of whole exomes. This technique simultaneously analyzes the DNA from the patient and both their parents, enabling us to more accurately identify the variants causing the disorder and disregard those with no clinical relevance.
This analysis is particularly useful for complex genetic disorders, where diagnosis is more challenging. For example, it enables us to determine whether a dominant variant compatible with the phenotype is pathogenic, if it appears de novo, or whether we can disregard it if it is present in the healthy parent. In recessive disorders, it allows us to confirm the carrier status of both parents with the gene in question, enhancing the clinical diagnosis.
AT A GLANC —
Trio whole exome sequencing is currently the most effective
method for diagnosing complex genetic disorders.
What are the advantages
of trio sequencing?
≤12 pp
improvement in diagnosis
Trio whole exome sequencing offers up to a 16.7% improvement in diagnosis compared to individual analysis. [1]
The comparison between individual WES and trio WES has been extensively studied in cohorts with complex phenotypes. The results are consistent: The trio approach enhances diagnosis rates by 7 to 17 percent, an increase that is largely attributed to more efficient diagnosis of de novo variants. It also significantly helps to reduce the number of VUS, thanks to parental segregation analysis.
SUCCESS CASE In a cohort of 289 patients with neuropediatric disorders, our laboratory in Malaga achieved diagnosis rates of 22% to 34% through the use of trio whole exome sequencing. This substantial improvement was supported by a 5.4% reduction in VUS and 6.7% fewer inconclusive results.
The evidence confirms it
[1] Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, et al.: Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr 2017, 171(12): e173438.
[2] Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. PMID: 25326637; PMCID: PMC4278636.
[3] Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, Gandomi SK, Lu I, Li X, Lu H, Lu HM, Salvador D, Ruble D, Lao M, Fischbach S, Wen J, Lee S, Elliott A, Dunlop CL, Tang S. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015 Jul;17(7):578-86.
[4] Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016 Jul;18(7):696-704.
[5] Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. PMID: 37043637; PMCID: PMC7614484.
Trio WES accelerates diagnosis, improves medical management, optimizes healthcare costs, and reduces uncertainty.
Cost-effective approach: invest better to diagnose earlier.
Less testing. More responses.
Faster diagnosis and a better experience for the family
Trio exome sequencing can streamline the diagnosis process to just two consultations, before and after the testing. This reduces visits to the clinic, alleviates family stress, and optimizes healthcare resources.
Less clinical uncertainty
It improves VUS interpretation by revealing the origin of variants, so we can reinforce or disregard potential pathogenicity. Less ambiguous results, clearer decision-making.
More certain diagnoses in pediatrics
Particularly effective in the diagnosis of pediatric genetic disorders, with performance of 41% compared to 26–30% in individual exomes [5]. It enables the identification of de novo pathogenic variants and allows for faster diagnosis in pediatric patients.
Precise assessment of reproductive risk
It facilitates the detection of paternal mosaicism and de novo variants, reducing the risk of recurrence in future pregnancies. This notably enhances the quality of genetic testing and empowers families to make informed reproductive decisions.
Diagnosis of variants in unfamiliar genes
Parental information enables us to highlight variants in genes unrelated to illness (non-morbid), expanding the scope for diagnosis and facilitating the discovery of new genetic causes for rare diseases.
Better understanding of the biology of disease
The ability to identify de novo variants in unexplored genes enables us to research new metabolic routes and molecular mechanisms involved in diseases.
Detecting secondary findings in family members
If required, we can test family members to detect incidental or secondary findings with clinical implications for preventable or treatable hereditary disorders, which is key to future health.
Results that speak
for themselves.
We increase the
diagnosis rate
from 22% to 34%
by using trio whole
exome sequencing
in patients with
neuropediatric disorders.
BY YOUR SIDE, LITERALLY —
An experienced team with the tools and clinical vision needed
to help you achieve maximum diagnostic performance.
A specialist team always there to help
Our team is made up of clinical specialists, geneticists, bioinformaticians, and scientific advisors with extensive experience in genetic diagnosis and research projects.
The various clinical areas involved in our organization guarantees a highly specialized diagnostic approach, adapted to each type of patient and disease.
Clinical advice and guidance before and after testing
We support the medical teams throughout the process: From choosing the most suitable, profitable, and cost-effective study for each case, to interpreting the results within the context of the patient and their family environment.
We actively participate in case reviews and clinical committee meetings, and we offer specific training sessions. This helpful, personalized, and continual service enhances the hospital’s ability to offer a transversal genetic approach in all its clinical areas.
Our own analysis software, available to our customers
We have developed our own bioinformatics program to offer precise, efficient, and transparent analysis. It is designed specifically for clinical contexts, enabling us to view and interpret genetic variants and allowing medical teams to directly access results, closely monitor the diagnostic process, and make quicker decisions.
Its intuitive interface, coupled with the option to personalize filters and notes, makes it a key resource for professionals who need reliable genetic information that can be used in real time for medical purposes.
Exome Express : results in just 10 days
We understand that, in many clinical contexts, time is a critical factor. That is why we offer an accelerated Trio Exome service, with results delivered in just 10 working days.
This service is specifically designed for urgent situations, such as patients in pediatric units or with suspected serious illnesses that may develop quickly, where early intervention can make all the difference. Our Exome Express service speeds up the diagnosis without compromising the quality of the analysis, to enable faster and better informed decisions.
Do you have any questions?
Request a budget here!
