Blog articles


Newborn screening: the pros and cons of genome sequencing

Could genome sequencing replace the blood spot test? We review the potential benefits and drawbacks of a more direct approach to screening

The quadruple helix: a new epigenetic marker?

We all know what DNA looks like, or do we? We take a look at why the quadruple helix can occur and how it could unlock new avenues for cancer therapy

What are copy number variants?

Everyone has unique variants in their genome - and many are harmless - but which types can have an impact on our health and how do they occur?

What is NIPD?

Non-invasive prenatal diagnosis can provide vital information about a pregnancy, but when should the technique be used, and how does it differ from NIPT?

The impact of Covid-19 on rare disease communities

Guest author Dr Christine Patch explains the challenges in supporting patients with rare disease during the pandemic, as well as the opportunities that may arise

Sepsis and the genome

Recent studies on sepsis show that genomics could hold the key to faster diagnosis and treatment, as well as understanding why it occurs
Drawing a family history

10 things to consider when offering a genomic test

Guest author Professor Frances Flinter explains 10 of the most important considerations for professionals and patients

News articles


New conditions factsheets

These handy factsheets are perfect for clinicians as an introduction to or a refresher on a range of genetic conditions

New 'Genomics in Medical Specialties' resources launched

Information for neurology, clinical genetics and gastroenterology has been added to our collection of resources for specialists

Master’s in Genomic Medicine: 2020/21 funding opens

The funding application process is now live for Master’s-level CPPD modules and qualifications in genomics at partner universities