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Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders
Author(s) -
Ver Donck Fabienne,
Downes Kate,
Freson Kathleen
Publication year - 2020
Publication title -
journal of thrombosis and haemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.947
H-Index - 178
eISSN - 1538-7836
pISSN - 1538-7933
DOI - 10.1111/jth.14945
Subject(s) - medical diagnosis , turnaround time , platelet disorder , blood platelet disorders , intensive care medicine , patient care , diagnostic test , medicine , ethical issues , computer science , medical physics , pathology , platelet aggregation , pediatrics , platelet , engineering ethics , nursing , engineering , operating system
Inherited bleeding and platelet disorders (BPD) are highly heterogeneous and their diagnosis involves a combination of clinical investigations, laboratory tests, and genetic screening. This review will outline some of the challenges that geneticists and experts in clinical hemostasis face when implementing high‐throughput sequencing (HTS) for patient care. We will provide an overview of the strengths and limitations of the different HTS techniques that can be used to diagnose BPD. An HTS test is cost‐efficient and expected to increase the diagnostic rate with a possibility to detect unexpected diagnoses and decrease the turnaround time to diagnose patients. On the other hand, technical shortcomings, variant interpretation difficulties, and ethical issues related to HTS for BPD will also be documented. Delivering a genetic diagnosis to patients is highly desirable to improve clinical management and allow family counseling, but making incorrect assumptions about variants and providing insufficient information to patients before initiating the test could be harmful. Data‐sharing and improved HTS guidelines are essential to limit these major drawbacks of HTS.