A framework for an evidence-based gene list relevant to autism spectrum disorder

CP Schaaf, C Betancur, RKC Yuen, JR Parr… - Nature Reviews …, 2020 - nature.com
Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a
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 …

[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 …

Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians' attitudes to sociocultural differences between patients across the globe

J Pinzón-Espinosa, M van der Horst, J Zinkstok… - Translational …, 2022 - nature.com
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 …

[HTML][HTML] The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care

JL Vassy, CA Brunette, MS Lebo, K MacIsaac… - The American Journal of …, 2023 - cell.com
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 …

[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 …

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 …

Ethics of reproductive genetic carrier screening: from the clinic to the population

L Dive, AJ Newson - Public Health Ethics, 2021 - academic.oup.com
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 …

Horizon scan of clinical laboratories offering pharmacogenetic testing

SB Haga, A Kantor - Health Affairs, 2018 - healthaffairs.org
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 …

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 …