• Genetic diagnoses in adult patients are often delayed, sometimes by a decade or more.• A
genetic diagnosis should be suspected in a patient with any of the following: multiple …

This paper focuses on the question of,“When is the best time to identify an individual at risk
for a treatable genetic condition?” In this review, we describe a framework for considering …

Genetic testing can provide definitive molecular diagnoses and guide clinical management
decisions from preconception through adulthood. Innovative solutions for scaling clinical …

Advances in genetic technology are having a major impact in the clinic, and mean that many
perceptions of the role and scope of genetic testing are having to change. Genomic testing …

It is increasingly clear that medical genetics has broad relevance in adult clinical medicine.
More adult patients with genetic conditions are being recognized, genetic testing for adult …

Progress in genomic technologies has spurred innovation in healthcare and medicine,
contributing to improved health and well-being. These improvements have been made …

Genetic counselling for adults is not classical since it deals with prospective assessment of
risk in developing disease. 1% of adults have a monogenic disease, or are carriers of a …

It is estimated that there are more than 7000 genetic counsellors working globally across 28
different countries [1]. In the UK and Australia, genetic counsellors usually work within …

Direct-to-consumer genetic and genomic tests have been offered for over a decade. With the
reduction in the cost of sequencing, the options for consumers will increase, with …

Purpose Clinical genetics services are time-and labor-intensive. With increasing pressure
for cost-effective medical care, the means of providing medical genetics services need to be …