Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders

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 imple...

Full description

Saved in:
Bibliographic Details
Published in:Journal of thrombosis and haemostasis 2020-08, Vol.18 (8), p.1839-1845
Main Authors: Ver Donck, Fabienne, Downes, Kate, Freson, Kathleen
Format: Article
Language:English
Subjects:
Bleeding
Blood Coagulation Disorders, Inherited - diagnosis
Blood Coagulation Disorders, Inherited - genetics
Blood Platelet Disorders - diagnosis
Blood Platelet Disorders - genetics
Blood Platelets
Diagnosis
Genetic screening
Genetic Testing
Hemostasis
High-Throughput Nucleotide Sequencing
Humans
inherited blood coagulation disorders
molecular diagnostic techniques
Platelets
thrombosis
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1538-7933
1538-7836
1538-7836
DOI:10.1111/jth.14945