Dr Noemi Roy and Dr Roberta Russo present a podcast on the The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper

Dr Roy and Dr Russo discuss the good practice paper in three main parts:

1) Focus on rare anaemias: ( Diamond-Blackfan Anaemia, Congenial dyserythropoietic anaemia (CDA), Sideroblastic anaemia and Red cell membrane/cation leaking and enzyme disorders

2) Next generation sequencing (NGS)

3) How and why we need to interpret genetic variants carefully 

The use of next-generation sequencing (NGS) in the diagnosis of rare inherited anaemias is increasingly common, as evidenced by a growing number of publications describing its clinical utility.1-6 Excluding disorders of globin synthesis, rare anaemias include Diamond–Blackfan anaemia (DBA), congenital dyserythropoietic anaemias (CDA), congenital sideroblastic anaemias (CSA) and disorders of red cell membrane and enzymes. Other forms of genetic anaemias can also be considered while establishing NGS panels, in particular genetic syndromes where anaemia comprises one of the constellation of symptoms.

Dr Noemi Roy is a Consultant Haematologist at Oxford University Hospitals NSH Foundation Trust and honorary senior clinical lecturer in haematology at the University of Oxford. She is a BSH General Haematology Task Force member and Chair for the Guidelines Executive committee for the European Hematology Association. She is the rare anaemia representative at the National Haemoglobinopathy Panel. Her main interests are haemoglobinopathies and rare inherited anaemias, and in particular the genetic investigation of inherited anaemias, including whole genome sequencing.

Dr Roberta Russo is an assistant professor in medical genetics at the University of Naples "Federico II". She has dealt with the study of the genetics of rare disorders, particularly hereditary anaemias, since 2008. Her main interest was the study of Congenital Dyserythropoietic Anaemias (CDAs), mainly CDA type II, genetics and genomics of red cell anaemias and blood cell defects . She contributed first hand to the identification of the causative genes of rare anaemias. Subsequently, she became one of the leading scientists for the genetics and epidemiology of CDAs. Since 2015, she has been dealing with the application of next generation sequencing to the clinical and medical definition of patients affected by this conditions. In 2011, she won the Young Investigator Award by the American Journal of Hematology for her study on the epidemiology of this disorder.