Background Healthcare providers play an important role in providing preconception care to
women and men of childbearing age. Yet, the provision of preconception care by healthcare …

This document of the European Society of Human Genetics contains recommendations
regarding responsible implementation of expanded carrier screening. Carrier screening is …

Carrier screening, a well-established clinical initiative, has been slow to take advantage of
the new possibilities offered by high-throughput next generation sequencing technologies …

As whole genome sequencing is being considered as a tool to deliver expanded newborn
screening (NBS) globally, the range of equivocal results it could produce are gaining …

This paper presents an overview of the conclusions from an international conference
convened to address current issues related to the provision of Cystic Fibrosis carrier …

Mendelian disorders are individually rare but collectively common, forming a 'long tail'of
genetic disease. A single highly accurate assay for this long tail would allow the scaling up …

Cystic fibrosis is the most common severe autosomal recessive disease, with a prevalence
of 1 in 2,500–3,500 live births and a carrier frequency of 1 in 25 among Northern Europeans …

Background As interest in reproductive genetic carrier screening rises, with increased
availability, the role of healthcare practitioners is central in guiding uptake aligned with a …

Background A substantial number of severely debilitating and often ultimately fatal inborn
errors of metabolism (IEMs) still lack an effective disease-modifying treatment. Informing …

Recently, a number of commercial companies are offering preconceptional carrier tests
directly-to-consumers. This offer raises a number of concerns and issues above and beyond …