Despite extensive research and numerous discoveries on the causes of genetic diseases via phenotypic diagnosis, up to half of children suffering from such diseases remain without a genetic based, or molecular, diagnosis (The Deciphering Developmental Disorders study 2015). Thus while phenotypic diagnosis has been a useful tool over the past three decades a new genetic take has been required in order to increase the efficiency and accuracy of rare disease diagnosis (The Deciphering Developmental Disorders study 2015). The ability to diagnose rare diseases is challenged by their infrequency; as they often affect few individuals and families per disease, which results in a lack of sufficient informat...
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...e how the disease is managed. The efficiency of NGS does however, have a positive impact on the expense and time required for and thus the accessibility of a diagnosis (Jamuar and Tan 2015).
The advent and subsequent utilisation of NGS has had an enormous impact on the ability to diagnose rare diseases through its affect on the speed, cost, efficiency and accuracy with which data essential to diagnosis can be generated. Its use coupled with bioinformatic analysis of the data has revolutionised genetic diagnosis from the traditional, yet still utilised, methods such as; the more expensive Sanger sequencing and FISH; which has a limited resolution The efficiency benefits of NGS enable diagnosis earlier and with greater availability/accessibility to patients and allow more efficient treatment, management and genetic counselling options for patients and their families.
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