GENOMICS ARTICLES

To harness the full benefits of genomic medicine requires the development of human phenotype ontology, to serve as a standardised, evolving language for describing individual biological profiles. Here, James Henry describes the three technical phases which enable the shift to data-driven proactive care.

As new technologies emerge, integrated, automated genomic workflows are set to revolutionise newborn screening. Here, Madhuri Hegde considers the transformative potential of these new advances, along with the ethical and policy frameworks required for responsible implementation.

James Henry continues his series on the population health management of human phenotype ontology, examining how the concept can aid the implementation of the recently published NHS 10 Year Plan.

As a small community hospital, Pennsylvania’s Doylestown Health had to rely on external services for next-generation sequencing. Here, Allison Eck explains how she was able to bring NGS testing in-house and the benefits it has brought to patients and researchers.

To fully realise the transformative power of data-driven services and personalised medicine, they require structured integration of digital and genomic innovations that network and account cultural, and ethical implications, explains James Henry.

Drawing on WHO initiatives, the United Nations’ interest in artificial intelligence (AI) for healthcare underscores the need for efficient approval of ecosystem classifications. This Scientific Policy Brief – the first in a series of articles from James Henry – proposes ecosystems applicable to the UN, UK, and US for commissioning standardised classifiers for genomic predictive health, aiming for global collaboration and equitable wellbeing.

The recent development of disease-modifying therapies for type 1 diabetes, coupled with increased difficulty in diagnosing diabetes subtypes is reinforcing the need for accurate and cost-effective methods of identifying those at risk of developing the disease. Genetic risk scores may provide novel methods to help identify those at risk and to improve discrimination between subtypes of diabetes.

A recent study concluded that universal molecular testing in stage 4 non-small cell lung cancer is a critical first step in determining the best course of treatment; but adoption of next-generation sequencing (NGS) has been slow. Here, Thermo Fisher Scientific’s Dr Luca Quagliata discusses the issues around widespread introduction of NGS and how oncologists and pathologists can use it to improve outcomes for cancer patients.

Three years on from NHS Wales becoming the first nation within the NHS to recommend DPYD screening to predict a negative response to treatment for all cancer patients prescribed fluoropyrimidine therapy, the All Wales Medical Genomics Service has highlighted some key clinical findings, as well as providing valuable recommendations for institutions or authorities who could benefit from establishing their own service.

The potential benefits to personalised medicine likely to be offered in the near future by genomics are huge. But to start realising them, laboratories need to overcome the challenge of ‘big data’ which could stop them embracing these new technologies, says Emma Huntridge of Clinisys.

Whole-genome sequencing is a comprehensive method for analysing entire genomes and has been instrumental in identifying, for example, inherited disorders and the mutations that drive cancer development. Here, PerkinElmer genomics specialist Anona Bamford provides an insight into the enigma that is the study of deoxyribonucleic acid.

Mycobacterium ulcerans infection results in a debilitating disease that is characterised by extensive and severe destruction of the skin and subcutaneous tissue. Adewale Oke and colleagues report on a study that aimed to identify cases of so-called Buruli ulcer in five states of south-west Nigeria.

Nucleic acid amplification tests are the model for detecting SARS-CoV-2, but efficient extraction of viral RNA is essential. Here, David Mathias and Lucy Goulart compare the performance and usability of two RNA extraction kits.