High-throughput next-generation sequencing technologies have seen an increase in use in
most developed countries. The translation of genomic testing into clinical practice …

An increasing number of countries are investing efforts to exploit the human genome, in
order to improve genetic diagnostics and to pave the way for the integration of precision …

The 100,000 Genomes Project has been the first genomics initiative in the world to recruit
patients through routine care and offer treatment through routine channels. As recruitment to …

The proliferation of large biorepositories and the staggering advances in our ability to
analyse large numbers of human genomes relatively quickly and cost-effectively have been …

The decade following the completion of the Human Genome Project has been marked by
divergent claims about the utility of genomics for improving population health. On the one …

Genome sequencing is now a sufficiently mature and affordable technology for clinical use.
Its application promises not only to transform clinicians' diagnostic and predictive ability, but …

Clinical genetic services and genomic research are rapidly developing but, historically,
those with the greatest need are the least to benefit from these advances. This encompasses …

Clinical practice and research are governed by distinct rules and regulations and have
different approaches to, for example, consent and providing results. However, genomics is …

Medical genetic testing is starting to change clinical practice in many nations. Our New
Zealand (NZ) genetic services stakeholder interviews identified four distinct service delivery …

Beyond a narrow focus on cost and outcomes, robust evidence of what is valued in genomic
medicine is scarce. We gathered views on value from key stakeholders (clinical genomic …