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Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic
Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic
National and international reports recommend that genetic counselling should be made available to parents of children livi...
Co-designing ‘gene’, a smartphone app for genetics education and empowerment with and for the British Pakistani community: a methodological summary of the GENE-Ed project
Co-designing ‘gene’, a smartphone app for genetics education and empowerment with and for the British Pakistani community: a methodological summary of the GENE-Ed project
A lack of culturally appropriate genetic information prevents the British Pakistani community from engaging with genetic s...
An exploration of the perspectives of Dutch adults experiencing a genetic condition on human germline gene editing
An exploration of the perspectives of Dutch adults experiencing a genetic condition on human germline gene editing
Views of people with a genetic condition are crucial in deliberations on human germline gene editing (HGGE), but their per...
Working together: development of a genetic counselling curriculum in a medical genetics residency training program
Working together: development of a genetic counselling curriculum in a medical genetics residency training program
Medical geneticists are physicians who assess, diagnose, and manage individuals with rare genetic diseases. They work with...
Association between cancer screenings uptake and genetic testing for cancer risk among US adults: findings from HINTS 2017–2020
Association between cancer screenings uptake and genetic testing for cancer risk among US adults: findings from HINTS 2017–2020
Genetic testing for cancer risk is a vital tool for preventive care, yet its association with the uptake of evidence-based...
Clinical research in rare diseases in Brazil: challenges and opportunities
Clinical research in rare diseases in Brazil: challenges and opportunities
This article provides a concise overview of the clinical research landscape concerning Rare Diseases in Brazil. Rare Disea...
Lack of provision of social and emotional information about Down syndrome associated with negative prenatal diagnosis experiences
Lack of provision of social and emotional information about Down syndrome associated with negative prenatal diagnosis experiences
To determine how physician adherence to recommended practices for discussing Down syndrome (DS) impacts patient experience...
Genetic renaissance: a cross-regional analysis of the approval landscape of authorised gene therapeutics in paediatrics, challenges and future prospects
Genetic renaissance: a cross-regional analysis of the approval landscape of authorised gene therapeutics in paediatrics, challenges and future prospects
Gene therapies are proven to be a milestone in the treatment of genetic disorders, especially in children who bear a dispr...
Scoping review: the current landscape of NIPT in South Africa
Scoping review: the current landscape of NIPT in South Africa
Non-invasive prenatal testing (NIPT) analyses cell-free fetal DNA (cffDNA) in maternal blood to screen for trisomies 13, 1...
Call for neurofibromatosis specialty care clinics in South Carolina
Call for neurofibromatosis specialty care clinics in South Carolina
Grounded in patient input, this study assesses the perceived need for a dedicated multidisciplinary clinic for individuals...
Perceptions of family health history in an East Baltimore community
Perceptions of family health history in an East Baltimore community
Knowledge and discussion of family health history (FHH) can allow patients, families, and communities to proactively monit...
Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases
Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases
To contribute to the diagnosis of genetic metabolic diseases in Brazil, an innovative model of networks has been set up, a...
The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening
The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening
Countries in the Global North use biochemical tests to screen for at least 20 diseases in newborns, while in the UK, only ...
The impact of the three major human genome editing reports on the governance landscape
The impact of the three major human genome editing reports on the governance landscape
In 2018, the scientific community was shocked by news that a rogue scientist’s genome editing of embryos had resulte...
Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving pu...
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...
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the e...
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 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...
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...
Knowledge and perception of medical students on genetics in the genomic era
Knowledge and perception of medical students on genetics in the genomic era
The importance of medical genetics in modern healthcare underscores the urgent need for comprehensive genetics education f...
Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings
Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings
Genetic counseling (GC) services have the potential to improve health outcomes, yet there are documented disparities in th...
Knowledge and attitudes towards genomic medicine and pharmacogenomics of medical undergraduate students in Sri Lanka: a cross-sectional study
Knowledge and attitudes towards genomic medicine and pharmacogenomics of medical undergraduate students in Sri Lanka: a cross-sectional study
Genomic medicine and pharmacogenomics (PGX) are emerging practices in medicine that play a vital role in providing persona...
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil
Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside ...
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...
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...
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