Comment in 2018

This Comment discusses how data from smartphones or wearables could be used for behavioural phenotyping, knowledge that may help to reveal the genetic and environmental contributions to disease-related behavioural variation.

The lack of family health history experienced by most adopted persons can represent a marked disadvantage for these individuals. Genetic testing has the potential to reliably and usefully fill informational gaps, but considerable challenges need to be addressed to assemble an economic case for affordability.

In personalized medicine, a major aim is to provide the right treatment to the right patient. In this Comment article, Gibson discusses how a more overt and genomics-informed focus on those individuals who are unlikely to benefit from treatment could reduce prescription rates and provide financial and health-care benefits.

Genome-wide sequencing (GWS) is the most sensitive test available for detecting pathogenic genetic variants but it generates complex results. It is important, therefore, that individuals undergoing GWS are offered both pre-test and post-test genetic counselling.

Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing. There is now a strong rationale for undertaking first-line genome-wide sequencing, accelerating the speed of diagnosis and avoiding the need for expensive and invasive investigations.

A recent patent granted for methods for diagnosing autism spectrum disorder (ASD) raises several ethical concerns beyond the fundamental question of whether genomic sequences are patentable, as it suggests that genetic testing can provide a diagnosis of ASD even before behavioural symptoms present.