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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS

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Published on: February 21, 2011

Evidence-based consensus guidelines for ALS genetic testing and counseling.

Jennifer Roggenbuck^1,2, Breda H F Eubank³, Joshua Wright²

¹Division of Human Genetics, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.

Annals of Clinical and Translational Neurology

|September 11, 2023

Summary

This summary is machine-generated.

All individuals with amyotrophic lateral sclerosis (ALS) should be offered genetic testing, including C9orf72, SOD1, FUS, and TARDBP sequencing. These guidelines aim to standardize genetic counseling and testing practices for ALS patients.

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Area of Science:

Genetics
Neurology
Clinical Guidelines

Background:

Advances in amyotrophic lateral sclerosis (ALS) gene discovery and therapy trials have increased demand for genetic testing.
However, genetic testing is not yet standard care for all ALS patients.
There is a need to standardize genetic counseling and testing practices.

Purpose of the Study:

To develop clinical guidelines for ALS genetic counseling and testing.
To improve and standardize genetic counseling and testing practices for healthcare providers caring for ALS patients.

Main Methods:

Core clinical questions were identified and a rapid review was conducted using PRISMA-P 2015 methodology.
Recommendations were drafted and evidence strength assessed using GRADE and EGAPP systems.
A modified Delphi approach was used to achieve expert consensus.

Main Results:

A total of 35 guideline statements were developed.
All persons with ALS should be offered single-step genetic testing, including C9orf72 assay and sequencing of SOD1, FUS, and TARDBP.
Key pre- and post-testing education and risk assessments are outlined, with guidance for laboratories.

Conclusions:

These evidence-based guidelines will aid the ALS community in managing the benefits and challenges of genetic testing.
Standardized guidelines will improve the consistency and quality of genetic services for ALS patients.