Despite clinical and technological advances, serious gaps remain in delivering genetic
services due to disparities in workforce distribution and lack of coverage for genetic testing …

Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim
of this research was to systematically review the literature published on healthcare …

Non-invasive prenatal testing was first discovered in 1988; it was primarily thought to be
able to detect common aneuploidies, such as Patau syndrome (T13), Edward Syndrome …

Genetic services have historically been housed in tertiary care, requiring referral, which can
present access barriers. While integrating genetics into primary care could facilitate access …

Introduction: Pharmacogenomic testing can indicate which drugs may have limited
therapeutic action or lead to adverse effects, hence guiding rational and safe prescribing …

The interpretation of genetic testing results is subject to error. This observational study
illustrates examples of pitfalls and challenges in interpretation of genetic testing results as …

Background Genetic information is increasingly relevant across healthcare. Traditional
genetic counseling (GC) may limit access to genetic information and may be more …

The scalable delivery of genomic medicine requires collaboration between genetics and
non-genetics providers. Thus, it is essential to investigate and address the perceived value …

Purpose Electronic consultation (eConsult) is a freely-available secure online platform
connecting primary care providers (PCPs) to geneticists. Our purpose was to determine …

A polygenic risk score (PRS) quantifies the aggregated effects of common genetic variants in
an individual. A 'personalised breast cancer risk assessment'combines PRS with other …