Although current guidelines prefer the use of targeted testing or small-scale gene
panels for identification of genetic susceptibility of hereditary endocrine tumour
syndromes, next generation sequencing based strategies have been widely introduced
into every day clinical practice. The application of next generation sequencing allows
rapid testing of multiple genes in a cost effective manner. Increasing knowledge about
these techniques and the demand from health care providers and society, shift the
molecular genetic testing towards using high-throughput approaches.In this expert
opinion, the authors consider the molecular diagnostic workflow step by step, evaluating
options and challenges of gathering family information, pre- and post-test genetic
counselling, technical and bioinformatical analysis related issues and difficulties
in clinical interpretation focusing on molecular genetic testing of hereditary endocrine
tumour syndromes.Considering all these factors, a diagnostic genetic workflow is also
proposed for selection of the best approach for testing of patients with hereditary
genetic tumour syndromes in order to minimalize difficult interpretation, unwanted
patient anxiety, unnecessary medical interventions and cost. There are potential benefits
of utilizing high throughput approaches however, important limitations have to be
considered and should discussed towards the clinicians and patients.
