A framework for an evidence-based gene list relevant to autism spectrum disorder
Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …
Precision medicine and public health: new challenges for effective and sustainable health
D Traversi, A Pulliero, A Izzotti, E Franchitti… - Journal of Personalized …, 2021 - mdpi.com
The development of high-throughput omics technologies represents an unmissable
opportunity for evidence-based prevention of adverse effects on human health. However …
opportunity for evidence-based prevention of adverse effects on human health. However …
[HTML][HTML] Being precise about precision medicine: what should value frameworks incorporate to address precision medicine? A report of the personalized precision …
E Faulkner, AP Holtorf, CY Liu, H Lin, E Biltaj, D Brixner… - Value in Health, 2020 - Elsevier
Precision medicine is a dynamic area embracing a diverse and increasing type of
approaches that allow the targeting of new medicines, screening programs or preventive …
approaches that allow the targeting of new medicines, screening programs or preventive …
Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians' attitudes to sociocultural differences between patients across the globe
Genetic testing has evolved rapidly over recent years and new developments have the
potential to provide insights that could improve the ability to diagnose, treat, and prevent …
potential to provide insights that could improve the ability to diagnose, treat, and prevent …
[HTML][HTML] The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care
Polygenic risk scores (PRSs) hold promise for disease risk assessment and prevention. The
Genomic Medicine at Veterans Affairs (GenoVA) Study is addressing three main challenges …
Genomic Medicine at Veterans Affairs (GenoVA) Study is addressing three main challenges …
[HTML][HTML] Genetic testing for neurodegenerative diseases: ethical and health communication challenges
JS Roberts, AK Patterson, WR Uhlmann - Neurobiology of disease, 2020 - Elsevier
Advances in genomic science are informing an expansion of genetic testing for
neurodegenerative diseases, which can be used for diagnostic and predictive purposes and …
neurodegenerative diseases, which can be used for diagnostic and predictive purposes and …
Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria
T Andoni, J Wiggins, R Robinson, R Charlton… - Scientific Reports, 2022 - nature.com
Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and
testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the …
testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the …
Ethics of reproductive genetic carrier screening: from the clinic to the population
Reproductive genetic carrier screening (RCS) is increasingly being offered more widely,
including to people with no family history or otherwise elevated chance of having a baby …
including to people with no family history or otherwise elevated chance of having a baby …
Horizon scan of clinical laboratories offering pharmacogenetic testing
Pharmacogenetic (PGx) testing involves the analysis of genes known to affect response to
medications. The field has been projected as a leading application of personalized or …
medications. The field has been projected as a leading application of personalized or …
Current genetic service delivery models for the provision of genetic testing in Europe: a systematic review of the literature
B Unim, E Pitini, T Lagerberg, G Adamo… - Frontiers in …, 2019 - frontiersin.org
Background: The provision of genetic services, along with research in the fields of genomics
and genetics, has evolved in recent years to meet the increasing demand of consumers …
and genetics, has evolved in recent years to meet the increasing demand of consumers …