Evidencia científica

Todos los tests están avalados por una amplia evidencia científica. Te mostramos el detalle para cada uno de ellos.

Cardiovascular

Cardio inCode® Score is a personalized medicine test that measures a patient’s risk of suffering a cardiovascular event, combining their genetics with the presence of classical cardiovascular risk factors, and proposes a number of recommendations to reduce that risk.

Cardiovascular

Lipid inCode® is a diagnostic service that performs a complete analysis of the seven genes most frequently associated with Familial Hypercholesterolemia (FH), facilitating a definitive diagnosis of the disease. It also analyses other aspects that guide a physician’s treatment of the patient

Cardiovascular

SudD inCode® is a genetic diagnostic test that analyses a selection of genes related with sudden cardiac death, to identify gene variants that could cause genetic heart disease.

Hematology

Thrombo inCode® is a personalized medicine genetic test that diagnoses thrombophilia in the patient and analyses their risk of suffering thrombosis and it gives recommendations for treatment and prevention measures if any are necessary.

Reproductive Health

Thrombo inCode® Reproductive Health is a personalized medicine genetic test that studies the involvement of thrombophilia in specific situations that may affect women, particularly in the situation of pregnancy losses.
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Nutrition

Nutri inCode® is a nutrigenetic test that analyse how a patient’s genetic profile influences their metabolism as it relates to weight regulation. The test also determines patients’ predisposition to developing metabolic diseases and risk factors related with obesity and being overweight.

CARDIO INCODE SCORE

Cardio inCode® Score is a genetic test for evaluation of cardiovascular risk (the risk of presenting a coronary event in the next 10 years).

Genetics make a 50% contribution to the development of cardiovascular events, and there is a direct, linear association between the genetic load and the risk of coronary events (both incident and recurrent). Over 60% of cardiovascular events happen to patients classified in the groups of moderate and low risk, on the basis of classical cardiovascular risk factors.

The inclusion of genetic load in the assessment makes it possible to attain a more accurate, reliable overall cardiovascular risk score, and identify those patients at highest risk, for whom to adjust therapy and therapeutic goals to their new risk level. With Cardio inCode® Score, 5% of the patients in the low risk group and 14% of those in the moderate risk group were reclassified to higher risk categories (Iribarren et al., 2016).

GENES/VARIANTS ANALYZED AND ANALYSIS TECHNIQUE

The test analyzes 12 genetic variants of the Single Nucleotide Polymorphism (SNPs) type through the TaqManR chemical analysis from Life Technologies, with the Fluidigm genotyping platform. These genetic variants are associated with ischaemic heart disease and are independent from classical cardiovascular risk factors. These variants have been identified in Genome-Wide Association studies or GWAs.

PROFILE OF PATIENTS

  • Patients with classical cardiovascular risk factors
  • Patients with other risk factors (being overweight, obese, having hypertriglyceridaemia, etc.)
  • Patients with familial history of ischaemic heart disease, especially if in first-degree relatives and/or disease presented at young ages
  • As part of a general medical check-up

ADDITIONAL INFORMATION

Cardio inCode® Score is the only available genetic test for the assessment of cardiovascular risk that measures the patient’s genetic load and integrates it into the current risk estimate functions (Framingham, REGICOR or low risk score). This allows physicians to inform on cardiovascular risk with or without the genetic load, which may mean a reclassification of the patient into higher risk categories. What’s more, Cardio inCode Score is the only test that has been validated in over 70,000 individuals from different population groups (Spaniards, European-origin United States citizens, Latin Americans, African-Americans and Asians).

BIBLIOGRAPHY

Numerous scientific articles published in prestigious national and international journals have been written about Cardio inCode Score:

  • Rincón LM et al. A genetic risk score predicts recurrent events after myocardial infarction in young adults. Rev ESp Cardiol 2019. doi:/10.1016/j.rec.2019.08.006
  • Iribarren C et al. Weighted multi-marker genetic risk scores for incident coronary heart disease among individuals of African, Latino and East-Asian ancestry. Scientific Reports 2018;8:6853
  • Iribarren C et al. Clinical utility of multimarker genetic risk scores for prediction of incident heart disease. A cohort study among over 51000 individuals of European ancestry. Circ Cardiovasc Genet 2016;9:531-540
  • Doménech M et al. Awareness of genetic coronary risk score improves blood pressure control in hypertensive patients. Rev Esp Cardiol 2016;69(12):1119-1240
  • Ramírez de Arellano A et al. Economic evaluation of Cardio inCode®, a clinical-genetic function for coronary heart disease risk assessment. Appl Health Econ Health Policy 2013;11:531-542
  • Lluis-Ganella C et al. Assessment of the value of a genetic risk score in improving the estimation of coronary risk. Atherosclerosis 2012;222:456-463
  • Lluis-Ganella C et al. Additive effects of multiple genetic variants on the risk of coronary artery disease. Rev Esp Cardiol 2010;63(8):925-33.

CARDIO INCODE CHECK

Cardio inCode® Check is a genetic test for evaluation of cardiovascular risk (the risk of presenting a coronary event in the next 10 years) and a patient’s predisposition to cardiovascular risk factors.

Genetic predisposition plays a major role in both cardiovascular risk factors and coronary risk. Genetics make a 50% contribution to the development of cardiovascular events, and there is a direct, linear association between the genetic load and the risk of cardiovascular events (both incident and recurrent).

The inclusion of genetic load in the assessment makes it possible to attain a more accurate, reliable overall cardiovascular risk score, and identify those patients at highest risk, for whom to adjust therapy and therapeutic goals to their new risk level. On another note, knowing a patient’s genetic predisposition to cardiovascular risk factors makes it possible to establish preventive measures for those who have not developed them yet, be stricter with those who have predisposition and risk factors, and provide guidance to optimize factors in patients who do not have genetic predisposition.

GENES/VARIANTS ANALYZED AND ANALYSIS TECHNIQUE

The test analyzes 170 genetic variants of the Single Nucleotide Polymorphism (SNPs) type through the TaqManR chemical analysis from Life Technologies, with the Fluidigm genotyping platform. Twelve of these variants are associated with ischaemic heart disease and are independent from classical cardiovascular risk factors; these are the variants analyzed in the Cardio inCode® Score test. The remaining 158 variants are involved in the genetic predisposition to developing eight cardiovascular risk factors. All of these variants have been identified in Genome-Wide Association studies or GWAs.

PROFILE OF PATIENTS

  • Patients with classical cardiovascular risk factors
  • Patients with other risk factors (including being overweight, obese, having hypertriglyceridaemia, etc.)
  • Patients with familial history of ischaemic heart disease, especially if in first-degree relatives and/or disease presented at young ages
  • As part of a general medical check-up

ADDITIONAL INFORMATION

Cardio inCode® Check is the only available genetic test for the assessment of cardiovascular risk that measures the patient’s genetic load and integrates it into the current risk estimate functions (Framingham, REGICOR or low risk score) in addition to evaluating genetic predisposition to eight cardiovascular risk factors.

This allows physicians to inform on cardiovascular risk with or without the genetic load, which may mean a reclassification of the patient into higher risk categories.

Additionally, it is the only test that has been validated in over 70,000 individuals from different population groups (Spaniards, European-origin United States citizens, Latin Americans, African-Americans and Asians).

BIBLIOGRAPHY

Numerous scientific articles published in prestigious national and international journals have been written about Cardio inCode® Check:

  • Rincón LM et al. A genetic risk score predicts recurrent events after myocardial infarction in young adults. Rev ESp Cardiol 2019. doi:/10.1016/j.rec.2019.08.006
  • Iribarren C et al. Weighted multi-marker genetic risk scores for incident coronary heart disease among individuals of African, Latino and East-Asian ancestry. Scientific Reports 2018;8:6853
  • Iribarren C et al. Clinical utility of multimarker genetic risk scores for prediction of incident heart disease. A cohort study among over 51000 individuals of European ancestry. Circ Cardiovasc Genet 2016;9:531-540
  • Doménech M et al. Awareness of genetic coronary risk score improves blood pressure control in hypertensive patients. Rev Esp Cardiol 2016;69(12):1119-1240
  • Ramírez de Arellano A et al. Economic evaluation of Cardio inCode®, a clinical-genetic function for coronary heart disease risk assessment. Appl Health Econ Health Policy 2013;11:531-542
  • Lluis-Ganella C et al. Assessment of the value of a genetic risk score in improving the estimation of coronary risk. Atherosclerosis 2012;222:456-463
  • Lluis-Ganella C et al. Additive effects of multiple genetic variants on the risk of coronary artery disease. Rev Esp Cardiol 2010;63(8):925-33.

LIPID INCODE

Lipid inCode® is a genetic test for diagnosis of familial hypercholesterolaemia (FH). The genetic study of FH is the only definitive method by which to confirm the disease. The confirmation of FH in a patient enables analysis of at-risk family members and identification of other potentially affected individuals who have not been detected yet. The analysis also provides information of major utility for the clinical and therapeutic management of patients: pharmacogenetics of statins, predisposition to high levels of Lp(a), analysis of polygenic hypercholesterolemia (LDLc score) and analysis of the genetic load of coronary risk (CiC score).

GENES/VARIANTS ANALYZED AND ANALYSIS TECHNIQUE

The test analyzes the seven genes commonly involved in familial hypercholesterolaemia (LDLR, APOB, PCSK9, APOE and STAP1) including autosomal recessive hypercholesterolemia (LDLRAP1) and phenocopies (lysosomal acid lipase deficiency – LIPA) through the technique of Next Generation Sequencing or NGS. The promoter and coding sequences of DNA, and exon-intron junction regions of the seven genes are analyzed, in addition to copy number variations, or CNV’s, such as deletions/duplications in the LDLR gene. The CNV-type variants are confirmed by the MLPA technique, and the others by Sanger technology. The test assesses 28 genetic variants of the Single Nucleotide Polymorphism (SNPs) type, through NGS, which is very useful in the clinical and therapeutic management of patients. The analysis of family members with risk of mutations previously identified in the family is performed by Sanger technology.

PROFILE OF PATIENTS

  • Patients with symptoms of FH.
  • Patients with resistant or uncontrolled hypercholesterolemia.
  • Patients with myocardial infarction and other arteriosclerotic vascular diseases at young ages (men <55 years and women <60 years)
  • Relatives of patients with FH and positive genetic studies (familial cascade screening).

ADDITIONAL INFORMATION

Lipid inCode® is the only available genetic test for the diagnosis of FH that is aligned with the recommendations of the FH Expert Panel from the Journal of the American College of Cardiology (JACC 2018). Furthermore, the test provides information on the clinic assessment and genotype-phenotype correlation of the detected variants (epidemiological data of the SAFEHEART registry with follow-up on more than 5,000 patients with genetic diagnosis of FH, and an internal registry of described genetic variants, with information on over 2,200 variants).

BIBLIOGRAPHY

  • Amor-Salamanca A et al. Genetically confirmed familial hypercholesterolemia in patients with acute coronary syndrome. J Am Coll Cardiol 2017;70:1732-40
  • Sturm AC et al. Clinical genetic testing for familial hypercholesterolemia. JACC Scientific Expert Panel. JACC 2018;72(6):662-680

SUDD INCODE

SudD inCode® is a diagnostic test for familial heart diseases related with sudden cardiac death syndrome.

Such pathologies are monogenic. Beginning with clinical suspicion based on a number of identified symptoms, the genetic diagnosis is a tool that facilitates establishment of a definite diagnosis in the event a causal variant of the disease is identified.

There can be different types of family heart diseases related with sudden death, depending on the defects in heart activity that they create. They are usually classified as:

  • Arrhythmogenic diseases, if they cause arrhythmia, or alterations of the heart rhythm.
  • Structural diseases, if the myocardium suffers anatomical defects.

Other types of genetic-origin alterations, called syndromes, can have repercussions at the cardiac level and lead to sudden death.

GENES/VARIANTS ANALYZED AND ANALYSIS TECHNIQUE

SudD inCode® enables physicians to perform a broad study of familial heart diseases, based on Next Generation Sequencing technology applied to gene panels that are designed according to the type of disease to study.

Structural disease panel: 55 genes

Dilated cardiomyopathy subpanel: 38 genes

Hypertrophic cardiomyopathy subpanel: 34 genes

Arrhythmogenic disease panel:

subpanel I: 36 genes

subpanel II: 33 genes

Panel for aortic vascular disease (TAAD – Marfan): 13 genes

RASopathies panel: 16 genes

Familial heart diseases panel: 86 genes

Extended familial heart diseases panel: 121 genes

PROFILE OF PATIENTS

  • Patients with clinical suspicion familial heart disease
  • Patients resuscitated following sudden cardiac death
  • In case of negative autopsy (death without established cause)

ADDITIONAL INFORMATION

SudD inCode® guarantees the highest quality standards, with sensibility and specificity above 99%. The analytical panels have been designed through an exhaustive process, based on the recommendations of clinical guidelines and consensus, and a selection of genes that have shown causality with relation to the phenotypes studied; either highly suspicious of causing the pathology, or less frequent but with a demonstrated causality.

BIBLIOGRAPHY

  • Campuzano O et al. Molecular autopsy in a cohort of infants died suddenly at rest. Forensic Sci Int Genet 2018 Nov;37:54-63
  • Mates J et al. Sudden arrhythmic death during exercise: A post-mortem genetic analysis. Sports Med 2017 Oct;47(10):2101-2115
  • Sanchez O et al. Natural and undetermined sudden death: Value of post-mortem genetic investigation. PLoS ONE 2016;11/12):e0167358

THROMBO INCODE

Thrombo inCode® is a genetic test that evaluates the risk of thrombosis associated with hereditary thrombophilia and a patient’s risk factors. Genetics contribute to around 50% of the development of a venous thromboembolism event and interact with a number of transient factors that can increase the risk of thrombosis. That is why it is important to determine the thrombohilic profile of the patients with personal and family histories of thrombosis to adjust their treatment and take preventive measures if necessary. Thrombo inCode puts the patient’s genetic and clinical information into an algorithm, initiating a comprehensive analysis of their venous thrombosis risk, rendering results and recommendations that are clinically useful in their therapeutic management.

GENES/VARIANTS ANALYZED AND ANALYSIS TECHNIQUE

Thrombo inCode® analyzes 12 variants of the Single Nucleotide Polymorphism (SNPs) type in seven genes, identified in Genome-Wide Association studies or GWAs. They are related with hereditary thrombophilia and have a causal and functional effect on the mechanisms involved in blood coagulation. They are grouped in a panel of scientifically-validated diagnostic value.

PROFILE OF PATIENTS

  • Patients with a personal background of venous thromboembolism
  • Patients with family or personal histories of venous thromboembolism who are going to be subjected to prothrombotic risk situations
  • Family members of individuals in whom specific thrombophilic variants have been identified (family study)

ADDITIONAL INFORMATION

Thrombo inCode® has proven to have a greater diagnostic capacity, with a statistically significant difference in comparison with the Factor V Leiden and Prothrombin variants. It has been recognized as the “gold standard” in publications of reference for thrombosis risk assessment.

In addition to diagnosing hereditary thrombophilia, the algorithm that processes the patient’s genetic information with their clinical factors makes it possible to determine how likely they are to develop a thromboembolism in different risk situations.

BIBLIOGRAPHY

  • Soria JM, et al. Multilocus Genetic Risk Scores for Venous Thromboembolism Risk Assessment. J Am Heart Assoc. 2014;3(5):e001060
  • Rubio-Terrés C, et al. Economic Analysis of Thrombo inCode, a Clinical–Genetic Function for Assessing the Risk of Venous Thromboembolism. Appl Health Econ Health Policy. 2015 Apr;13(2):233-42
  • Dobnic F et al. Guía de práctica clínica para la prevención, diagnóstico y tratamiento de la enfermedad tromboembólica venosa en el deporte. Apunts Med Esport 2015;50(188):147-159
  • Muñon Marin AJ et al. Multivariable clinical-genetic risk model for predicting venous thromboembolism events in patients with cancer. British Journal of Cancer 2018;118:1056-1061

THROMBO INCODE REPRODUCTIVE HEALTH

Thrombo inCode® Reproductive Health is a genetic test that evaluates the risk of thrombophilia-related recurrent pregnancy losses. It assesses a number of genetic variants, in addition to clinical factors to evaluate the weight of the patient’s thrombophilia profile in the pregnancy loss mechanism. The identification of patients with high risk of recurrent pregnancy loss due to their thrombophilia profile enables the application of thromboprophylaxis to prevent recurrence and increase the probability of achieving full-term pregnancy.

Additionally, Thrombo inCode® Reproductive Health analyzes the patient’s risk of suffering a venous thromboembolism, especially during pregnancy. In this period, thrombosis is more likely to develop due to the procoagulant physiological mechanisms activated in the prepartum and puerperium phases. Thanks to the recommendations of the results report, preventive measures can be put in place for patients at high risk.

GENES/VARIANTS ANALYZED AND ANALYSIS TECHNIQUE

Thrombo inCode® Reproductive Health analyzes a validated panel of 12 variants of the Single Nucleotide Polymorphism (SNPs) type in seven genes, identified in Genome-Wide Association studies or GWAs. It then applies two specific algorithms; first to calculate the risk of recurrent pregnancy loss and second, the risk of venous thromboembolism.

PROFILE OF PATIENTS

  • Patients who have suffered recurrent pregnancy losses; in other words, at least two spontaneous miscarriages before the 22nd week of pregnancy.

ADDITIONAL INFORMATION

Thrombo inCode® Reproductive Health is the only scientifically-validated diagnostic test that enables the study of the involvement of thrombophilia in the risk of recurrent pregnancy losses.

It has proven to have a greater diagnostic capacity, with a statistically significant difference in comparisons with the Factor V Leiden and Prothrombin variants. With Thrombo inCode® Reproductive Health, thrombophilic causality can be established in approximately 50% of patients with recurrent pregnancy losses.

BIBLIOGRAPHY

  • Soria JM, et al. Multilocus Genetic Risk Scores for Venous Thromboembolism Risk Assessment. J Am Heart Assoc. 2014;3(5):e001060
  • Rubio-Terrés C, et al. Economic Analysis of Thrombo inCode, a Clinical–Genetic Function for Assessing the Risk of Venous Thromboembolism. Appl Health Econ Health Policy. 2015 Apr;13(2):233-42
  • Páramo JA et al. Prediction of recurrent pregnancy loss by a new thrombophilia based genetic risk score. IJSBAR 2018;42(4):61-73
  • Diaz-Nuñez M et al. Recurrent miscarriage and implantation failure of unknown cause studied by a panel of thrombophilia conditions: Increased frequency of FXIII Val34Leu polymorphism. J Reprod Infertil 2019;20(2):76-82
  • Fernández Arias M et al. Genetic risk assessment of thrombophilia in patients with adverse obstetric outcomes. PLOS One 2019. doi:/10.1371/journal.pone.0211114

NUTRI INCODE

Nutri inCode® is a nutrigenetic test that analyzes how a patient’s genetic profile influences their metabolism as it relates to weight regulation. The test also determines patients’ predisposition to developing metabolic diseases and risk factors related with obesity and being overweight. Based on this information, personalized recommendations are made to facilitate weight loss in a healthy way and prevent development of risk factors through a specific diet. Guidance is also given to reduce and correct those risk factors if they are present, through a diet that is right for the patient’s genetic profile.

GENES/VARIANTS ANALYZED AND ANALYSIS TECHNIQUE

Nutri inCode® analyzes 175 variants of the Single Nucleotide Polymorphism (SNPs) type, identified in Genome-Wide Association studies or GWAs. They are related with metabolism and weight regulation as well as the development of cardiovascular pathologies and risk factors. This selection of variants has been made based on a thorough review of the literature. Those with the most robust scientific evidence were ultimately chosen.

PROFILE OF PATIENTS

  • Overweight or obese individuals wishing to lose weight in a healthy way
  • Overweight or obese individuals who have failed with traditional diets
  • Individuals suffering from metabolic diseases for whom weight loss can have a positive impact on the profile of the disease
  • Individuals who are overweight or obese and have cardiovascular risk factors for whom weight loss could bring about cardiovascular benefits

ADDITIONAL INFORMATION

Nutri inCode® is a nutrigenetic test developed by specialists of renowned national and international prestige. It is based on solid scientific evidence, thanks to a genetic panel developed under rigorous methodology. Nutri inCode® benefits physicians and patients who believe that weight loss is a key goal for their health. It helps improve the profile of the diseases and risk factors related with obesity and being overweight. Knowledge of the patient’s genetic profile enables physicians to prepare recommendations to facilitate weight loss and prevent the development of metabolic and cardiovascular diseases.

BIBLIOGRAPHY

  • Speliotes EK, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010;42:937-48.
  • Hasselbalch AL, et al. A variant in the fat mass and obesity-associated gene (FTO) and variants near the melanocortin-4 receptor gene (MC4R) do not influence dietary intake. J Nutr. 2010;140:831-4.
  • de Luis DA, et al. Effect of -55CT Polymorphism of UCP3 on Insulin Resistance and Cardiovascular Risk Factors after a High Protein/Low Carbohydrate versus a Standard Hypocaloric Diet. Ann Nutr Metab. 2016;68:157-63.
  • Ruiz JR, et al. Preliminary findings on the role of PLIN1 polymorphisms on body composition and energy metabolism response to energy restriction in obese women. Br J Nutr. 2011;106:486-90
  • Delahanty LM, et al. Genetic predictors of weight loss and weight regain after intensive lifestyle modification, metformin treatment, or standard care in the Diabetes Prevention Program. Diabetes Care. 2012;35:363-6.

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