CRIS

Permanent URI for this communityhttps://investigadores.udd.cl/handle/123456789/1

Browse

Settings

Has files: NoSubject: search.filters.subject.genetic testing

Search Results

Now showing 1 - 8 of 8
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Scopus© Citations 5
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Posibilidad de terapia génica en pacientes con enfermedades retinianas hereditarias
    (2022)
    A. Bofill
    ;
    J.I. Oporto
    ;
    J.I. Verdaguer
    ;
    J.P. López
    ;
    O. Acuña
      1
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
    (2022)
    Dianalee McKnight
    ;
    Ana Morales
    ;
    Kathryn E. Hatchell
    ;
    Sara L. Bristow
    ;
    Joshua L. Bonkowsky
    <jats:sec id="ab-noi220068-4"><jats:title>Importance</jats:title><jats:p>It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.</jats:p></jats:sec><jats:sec id="ab-noi220068-5"><jats:title>Objective</jats:title><jats:p>To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.</jats:p></jats:sec><jats:sec id="ab-noi220068-6"><jats:title>Design, Setting, and Participants</jats:title><jats:p>This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals.</jats:p></jats:sec><jats:sec id="ab-noi220068-7"><jats:title>Exposures</jats:title><jats:p>Genetic test results.</jats:p></jats:sec><jats:sec id="ab-noi220068-8"><jats:title>Main Outcomes and Measures</jats:title><jats:p>Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms.</jats:p></jats:sec><jats:sec id="ab-noi220068-9"><jats:title>Results</jats:title><jats:p>Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584 [365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%).</jats:p></jats:sec><jats:sec id="ab-noi220068-10"><jats:title>Conclusions and Relevance</jats:title><jats:p>Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.</jats:p></jats:sec>
      3Scopus© Citations 70
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
    (2022)
    Lisa R. Forbes
    ;
    Olive S. Eckstein
    ;
    Nitya Gulati
    ;
    Erin C. Peckham-Gregory
    ;
    Nmazuo W. Ozuah
      14Scopus© Citations 15
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
    (2022)
    Álvaro Beltrán-Corbellini
    ;
    Ángel Aledo-Serrano
    ;
    Rikke S. Møller
    ;
    Eduardo Pérez-Palma
    ;
    Irene García-Morales
    <jats:p>This review aims to provide an updated perspective of epilepsy genetics and precision medicine in adult patients, with special focus on developmental and epileptic encephalopathies (DEEs), covering relevant and controversial issues, such as defining candidates for genetic testing, which genetic tests to request and how to interpret them. A literature review was conducted, including findings in the discussion and recommendations. DEEs are wide and phenotypically heterogeneous electroclinical syndromes. They generally have a pediatric presentation, but patients frequently reach adulthood still undiagnosed. Identifying the etiology is essential, because there lies the key for precision medicine. Phenotypes modify according to age, and although deep phenotyping has allowed to outline certain entities, genotype-phenotype correlations are still poor, commonly leading to long-lasting diagnostic odysseys and ineffective therapies. Recent adult series show that the target patients to be identified for genetic testing are those with epilepsy and different risk factors. The clinician should take active part in the assessment of the pathogenicity of the variants detected, especially concerning variants of uncertain significance. An accurate diagnosis implies precision medicine, meaning genetic counseling, prognosis, possible future therapies, and a reduction of iatrogeny. Up to date, there are a few tens of gene mutations with additional concrete treatments, including those with restrictive/substitutive therapies, those with therapies modifying signaling pathways, and channelopathies, that are worth to be assessed in adults. Further research is needed regarding phenotyping of adult syndromes, early diagnosis, and the development of targeted therapies.</jats:p>
      36Scopus© Citations 36
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
      1Scopus© Citations 9  2
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Rett Syndrome: MECP2 gene molecular analysis in Chilean patients [Síndrome de Rett: análisis molecular del gen MECP2 en pacientes chilenas]
    (2019)
    Carolina Aron W.
    ;
    Geraldinne Rauch L.
    ;
    BENAVIDES GONZALEZ, FELIPE ORLANDO  
    ;
    REPETTO LISBOA, MARIA GABRIELA  
    <jats:p>Introducción: El síndrome de Rett (RTT) es un trastorno neurológico progresivo caracterizado por producir una regresión del desarrollo psicomotor en niñas previamente sanas. La mayoría de los casos son causados por variantes patogénicas en el gen MECP2, que codifica para la proteína methyl CpGbinding protein 2.Objetivo: Describir la frecuencia y el tipo de variantes patogénicas en MECP2 en mujeres chilenas con diagnóstico clínico de RTT.Pacientes y Método: Se invitó a participar en este estudio a mujeres chilenas con sospecha clínica de RTT. Se reunió información clínica mediante un cuestionario. Se analizaron variantes patogénicas en MECP2 mediante el método de secuenciación de Sanger y se utilizó Multiple Ligation-dependant Probe Amplification (MLPA) para la detección de duplicaciones y deleciones.Resultado: El estudio incluyó 14 pacientes con sospecha de RTT, de las cuales 8 (57%) pacientes tuvieron variantes patogénicas. Las restantes permanecen sin diagnóstico molecular.Conclusión: Variantes patogénicas en MECP2 están presentes en pacientes chilenas con RTT. Es probable que haya otros genes o diagnósticos involucrados en las pacientes sin hallazgos en MECP2. A partir de este trabajo, el diagnóstico molecular está disponible en Chile.</jats:p>
    Scopus© Citations 3  7
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Genetic testing for inherited ocular conditions in a developing country
    (2020)
    ZANOLLI DE SOLMINIHAC, MARIO TOMAS  
    ;
    Joaquín I. Oporto
    ;
    Juan I. Verdaguer
    ;
    Juan Pablo López
    ;
    Sergio Zacharías
      20Scopus© Citations 8