Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Lora J H Bean; Madhuri R Hegde

doi:10.1186/s13073-017-0508-z

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Genome Med. 2017 Dec 18;9(1):111. doi: 10.1186/s13073-017-0508-z.

Authors

Lora J H Bean^{1

2}, Madhuri R Hegde^{3

4

5}

Affiliations

¹ Department of Human Genetics, Emory University, Atlanta, GA, USA. lorabean@eglgenetics.com.
² EGL Genetics, Tucker, GA, USA. lorabean@eglgenetics.com.
³ Department of Human Genetics, Emory University, Atlanta, GA, USA.
⁴ School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA.
⁵ PerkinElmer Genetics, Pittsburgh, PA, USA.

Abstract

Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP). The use of in silico algorithms to predict whether amino acid substitutions result in human disease is inconsistent across clinical laboratories. The clinical genetics community must carefully consider how in silico predictions can be incorporated into variant interpretation in clinical practice.Please see related Research article: https://doi.org/10.1186/s13059-017-1353-5.

Keywords: American College of Medical Genetics (ACMG); Association for Molecular Pathology (AMP); ClinVar; Clinical genetics; Diagnostics; In silico algorithm; Variant interpretation.

MeSH terms

Algorithms
Evaluation Studies as Topic
Genetic Testing / methods
Genetic Testing / standards*
Genetics, Medical / organization & administration
Genetics, Medical / standards*
Humans
Pathology, Clinical / organization & administration
Pathology, Clinical / standards*
Polymorphism, Genetic
Practice Guidelines as Topic*
Societies, Medical
Software*