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Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns
Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns
A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a si...
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metaboli...
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Background and Objective: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is import...
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet avai...
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressiv...
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availabili...
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for sever...
Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications
Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications
Cardiovascular diseases, both inherited and familial, indicate a risk of early and preventable cardiovascular events for r...
Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature
Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature
The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining...
The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review
The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review
Polygenic scores (PGS) have been developed for cancer risk-estimation and show potential as tools to prompt earlier referr...
Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards gen...
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their pr...
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary a...
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey
Individuals affected with cancer predisposition (CPS) syndromes such as BRCA1, BRCA2 or Lynch syndrome (LS) are at an elev...
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
As one of the key tools on the precision medicine workbench, high-throughput genetic testing has enormous promise for impr...
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences
Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As ...
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics
Individualised treatment, including genetic services, calls for an increased role of primary healthcare practitioners (pHC...
Teaching and training of human resources for genetics and genomics in Brazil
Teaching and training of human resources for genetics and genomics in Brazil
This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics...
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals
Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with ...
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS)....
The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists
The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists
In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, seri...
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality
Understanding attitudes towards genetic exceptionalism and confidentiality is important in guiding policies regarding spec...
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective
Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N (2012) Genetics in health care: an overview of current and...
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
The emergence of therapies acting on specific molecular targets for Duchenne and Becker muscular dystrophies (DBMD) led to...
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2...
Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis
Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis
The APOE-ε4 allele(s) is a strong risk factor for Alzheimer’s disease (AD). A significant point of access for t...
Wikipedia as an academic service-learning tool in science and technology: higher education case from Siberia
Wikipedia as an academic service-learning tool in science and technology: higher education case from Siberia
Wikipedia, the open crowdsourced encyclopedia that anyone can edit, ranks among the top ten most-visited websites globally...
Comparative assessment of quality of life among adolescents with sickle cell disease and sickle cell trait: evidence from Odisha, India
Comparative assessment of quality of life among adolescents with sickle cell disease and sickle cell trait: evidence from Odisha, India
The present study aims to assess the quality of life (QOL) of adolescents with sickle cell disease (SCD) and sickle cell t...
The need to set explicit goals for human germline gene editing public dialogues
The need to set explicit goals for human germline gene editing public dialogues
Given the potentially large ethical and societal implications of human germline gene editing (HGGE) the urgent need for pu...
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of w...
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