New clinical molecular diagnostic methods for congenital and inherited heart disease

IMPORTANCE OF THE FIELD: For patients with congenital and inherited heart disorders, causative mutations are often not identified owing to limitations of current screening techniques. Identifying the mutation is of major importance for genetic counseling of patients and families, facilitating the diagnosis in people at risk and directing clinical management. Next-generation sequencing (NGS) provides unprecedented opportunities to maximize mutation yields and improve clinical management, genetic counseling and monitoring of patients.

AREAS COVERED IN THIS REVIEW: Recent NGS applications are reviewed, focusing on methods relevant for molecular diagnostics in cardiogenetics. Requirements for reliable implementation in clinical practice and challenges that clinicians, bioinfomaticians and molecular diagnosticians must deal with in analyzing resulting data are discussed.

WHAT THE READER WILL GAIN: Readers will be introduced to recent developments, techniques and applications in NGS. They will learn about possibilities of using it in clinical diagnostics. They will become acquainted with difficulties and challenges in interpreting the data and considerations around communicating these issues to patients and the community.

TAKE HOME MESSAGE: Although several obstacles are still to be overcome and there is much still to learn, NGS will revolutionize clinical molecular diagnostics of inherited and congenital cardiac diseases, maximizing mutation yields and leading to optimized diagnostic and clinical care.