… Papers identified as containing information about communication of risk were read in detail
by two investigators (CL Gaff and AJ Clarke). An aggregative synthesis approach, focussing …

β-thalassaemia is one of the most common single-gene inherited conditions in the world,
and thalassaemia carrier screening is the most widely performed genetic screening test, …

As an individual's understanding of their genetic risk may influence risk management decisions,
it is important to understand the ways in which risk is constructed and interpreted. We …

… Van der Auwera GA, Carneiro MO, Hartl C, et al. From FastQ data to high … Clara Gaff
and Susan M White: The last two authors contributed equally to this work. … Clara Gaff PhD …

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical
advances by enabling the responsible sharing of clinical and genomic data through both …

… C, WES applied at first clinical genetics (CG) assessment (counterfactual, 23 of 44
diagnoses). D, WES applied at initial tertiary presentation (counterfactual, 23 of 44 diagnoses). …

Purpose: To undertake the first prospective cost-effectiveness study of whole-exome sequencing
(WES) as an early, routine clinical test for infants with suspected monogenic disorders. …

OBJECTIVE: Effective risk communication may enable clients to participate effectively in
decision-making about their health and health care. A systematic review of existing literature on …

Purpose Genetic variants causing aberrant premessenger RNA splicing are increasingly
being recognized as causal variants in genetic disorders. In this study, we devise standardized …

This longitudinal study aimed to document (i) the information-giving and patient-communication
styles of clinical geneticists and genetic counsellors (consultants) in familial breast …