Many of us recognise that genomic testing is becoming increasingly complex. One proposed
solution to this is genomics multidisciplinary team meetings (MDTs), in which clinicians and …

The role of genome sequencing in the diagnosis of human disease is well established.
Perhaps one of the most challenging clinical scenarios is the utilisation of genomic …

Background National and international amalgamation of genomic data offers opportunity for
research and audit, including analyses enabling improved classification of variants of …

This article describes how participants in large scale genomics projects can help to shape
and steer them, on behalf of wider participant communities, based on the experience of the …

(WGS) can speed up the diagnosis and access to treatment for babies born with genetic
diseases. The Newborn Genomes Programme launched 13 December led by Genomics …

Genomic testing is vital for the diagnosis of many rare conditions. However, globally, there is
not equity of access to such technologies. Lack of funding is a major barrier. However …

The final issue of EJHG for 2022 takes in research from the individual to population level
and back again. Hastings Ward and colleagues from Genomics England open with a …

Genome sequencing (GS) will have a profound impact on the diagnosis of rare and inherited
diseases in children and young people. We conducted 27 semi-structured interviews with …

New genetic testing technologies such as microarrays and whole exome sequencing mean
the diagnostic potential for a child with a development disorder is greatly increased over …

The process by which the “at risk” relatives of a person with a genetic condition should be
notified of the possible need for them to have genetic testing has long been controversial. At …