Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Nature medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …

Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

[HTML][HTML] 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest …

MK Stiles, AAM Wilde, DJ Abrams, MJ Ackerman… - Heart rhythm, 2021 - Elsevier
This international multidisciplinary document intends to provide clinicians with evidence-
based practical patient-centered recommendations for evaluating patients and decedents …

[HTML][HTML] Design of a randomized, placebo-controlled, phase 3 trial of tofersen initiated in clinically presymptomatic SOD1 variant carriers: the ATLAS study

M Benatar, J Wuu, PM Andersen, RC Bucelli… - …, 2022 - Elsevier
Despite extensive research, amyotrophic lateral sclerosis (ALS) remains a progressive and
invariably fatal neurodegenerative disease. Limited knowledge of the underlying causes of …

Implementation of germline testing for prostate cancer: Philadelphia Prostate Cancer Consensus Conference 2019

VN Giri, KE Knudsen, WK Kelly, HH Cheng… - Journal of Clinical …, 2020 - ascopubs.org
PURPOSE Germline testing (GT) is a central feature of prostate cancer (PCA) treatment,
management, and hereditary cancer assessment. Critical needs include optimized …

The emergence and global spread of noninvasive prenatal testing

V Ravitsky, MC Roy, H Haidar… - Annual review of …, 2021 - annualreviews.org
Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around
the world. It carries numerous benefits but also raises challenges, often related to …

European Respiratory Society statement on familial pulmonary fibrosis

R Borie, C Kannengiesser, K Antoniou… - European …, 2023 - Eur Respiratory Soc
Genetic predisposition to pulmonary fibrosis has been confirmed by the discovery of several
gene mutations that cause pulmonary fibrosis. Although genetic sequencing of familial …

Germline testing and genetic counselling in prostate cancer

J Russo, VN Giri - Nature Reviews Urology, 2022 - nature.com
Genetic testing for prostate cancer is rapidly growing and is increasingly being driven by
precision medicine. Rates of germline pathogenic variants have been reported in up to 15 …

[HTML][HTML] The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

N Dragojlovic, K Borle, N Kopac, U Ellis, P Birch… - Genetics in …, 2020 - Elsevier
As genetics becomes increasingly integrated into all areas of health care and the use of
complex genetic tests continues to grow, the clinical genetics workforce will likely face …

Building genomic capacity for precision health in Africa

A Olono, V Mitesser, A Happi, C Happi - Nature Medicine, 2024 - nature.com
The African continent is poised to have a pivotal role in the global population landscape,
with the United Nations projecting a population of 2.5 billion (more than 25% of the global …