Oui, l'âge avancé des parents, surtout de la mère, augmente le risque de certaines anomalies.
Âge parentalAnomalies génétiques
#3
Les facteurs environnementaux jouent-ils un rôle ?
Oui, certaines expositions environnementales peuvent augmenter le risque de maladies génétiques.
Facteurs environnementauxRisque génétique
#4
Les maladies génétiques sont-elles héréditaires ?
Oui, de nombreuses maladies génétiques sont héréditaires et se transmettent de génération en génération.
HéréditéTransmission génétique
#5
Peut-on modifier les facteurs de risque ?
Certains facteurs de risque, comme le mode de vie, peuvent être modifiés pour réduire les risques.
Modification des facteurs de risqueMode de vie
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Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
2023-10-11
The delivery of genetic services in developing countries is faced with significant challenges, despite medical and technological advances globally. The Philippines, being an archipelago, faces even mo...
Rapid growth in the volume of referrals to clinical genetics services in many countries during the past 15 years makes workforce planning a critical policy tool in ensuring that the capacity of the cl...
Increasing numbers of unaffected individuals could benefit from genetic evaluation for inherited cancer susceptibility. Automated conversational agents (ie, chatbots) are being developed for cancer ge...
To examine whether chatbot and SOC approaches are equivalent in completion of pretest cancer genetic services and genetic testing....
This equivalence trial (Broadening the Reach, Impact, and Delivery of Genetic Services [BRIDGE] randomized clinical trial) was conducted between August 15, 2020, and August 31, 2023, at 2 US health ca...
Participants were randomized 1:1 at the patient level to the study groups at each site. In the chatbot intervention group, patients were invited in a patient portal outreach message to complete a pret...
Primary outcomes were completion of pretest cancer genetic services (ie, pretest genetics education chat or pretest genetic counseling appointment) and completion of genetic testing. Equivalence hypot...
This study included 3073 patients (1554 in the chatbot group and 1519 in the enhanced SOC control group). Their mean (SD) age at outreach was 43.8 (9.9) years, and most (2233 of 3063 [72.9%]) were wom...
The findings of the BRIDGE equivalence trial support the use of chatbot approaches to offer cancer genetic services. Chatbot tools can be a key component of sustainable and scalable population health ...
ClinicalTrials.gov Identifier: NCT03985852....
The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethni...
We have utilized an innovative electronic health record (EHR) agnostic virtual telehealth and educational platform called Consultagene to receive referrals from healthcare providers in the RGV. Using ...
The recruitment efforts have proven highly successful with the utilization of Consultagene in this medically underserved region. The project's ongoing engagement efforts with local healthcare provider...
Project GIVE study has allowed advanced genetic evaluation and delivery of GS through the virtual Consultagene portal, effectively circumventing the recognized socioeconomic and logistical barriers to...
Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics with appropriate pre and post-test counselling. However, waiting times for clini...
Underrepresented groups lack access to genetics services, heightening health disparities among those who benefit from advancements in precision medicine. An innovative approach to addressing this gap ...
The integration of genetic services into African healthcare systems is a multifaceted endeavor marked by both obstacles and prospects. This study aims to furnish evidence-based recommendations for pol...
Employing a scoping review methodology, we scrutinized peer-reviewed studies spanning from 2003 to 2023, sourced from PubMed, Scopus, and Africa-wide databases. Our analysis drew upon eight pertinent ...
The reviewed studies underscored numerous challenges hindering the implementation of genetic services in African healthcare systems. These obstacles encompassed deficiencies in disease awareness and e...
The integration of genetic services in Africa holds promise for enhancing healthcare outcomes but also poses challenges and opportunities for healthcare and biotechnology enterprises. To address gaps ...
Since the 1990s, genetic clinics have been established in South Korea, enabling the provision of clinical genetics services. However, genetic counseling services are not widely used in the medical sys...
Genetic testing is one of the most high-yield diagnostic tests in the evaluation of pediatric sensorineural (SNHL) hearing loss, leading to a genetic diagnosis in 40-65% of patients. Previous research...
Medical and rehabilitative advances increasingly transform management of rare genetic neuromuscular diseases (GNMDs) for children in the global north. Lack of information about GNMDs and related healt...
This is a cross-sectional study of probands enrolling in a study of GNMDs at the University Teaching Hospital in Lusaka, Zambia, a member of the International Consortium for Genomic Medicine in Neurom...
Among 50 probands, 52% were male with median age 12 (absolute range 2 months to 54 years). Motor neuron diseases (n = 16; 32%), muscle disorders (n = 20; 40%), and inherited polyneuropathies (n = 5; 1...
Paradigms to improve access to diagnostics and therapeutic interventions are needed for GNMDs in Zambia. Multidisciplinary clinics may improve access and utilization of needed health services. Qualita...