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Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

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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Related Experiment Video

Updated: Jun 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

A pooled electronic consultation program to improve access to genetics specialists.

Emma K Folkerts^1,2, Renée C Pelletier^1,2, Daniel C Chung^3,4

¹Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.

Genetics in Medicine Open

|December 13, 2024

Summary

This summary is machine-generated.

Genetics e-consults improve access to specialists, with most clinicians acting on recommendations. This innovative model addresses limited ambulatory access to genetics expertise.

Keywords:

Access to health services Genetic services Healthcare delivery Referral and consultation

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Last Updated: Jun 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Medical Informatics
Genetics
Healthcare Delivery

Background:

Limited ambulatory access to genetics specialists necessitates innovative service delivery models.
Electronic consultation (e-consult) programs are emerging as a solution to connect clinicians with specialists.

Purpose of the Study:

To explore the utilization and outcomes of a genetics and genomics e-consult program.
To assess the effectiveness of e-consults in improving access to genetics expertise within a healthcare system.

Main Methods:

Retrospective observational analysis of genetics e-consults.
Data collected from April 2021 to March 2022.

Main Results:

The e-consult service triaged 153 requests and completed 122 in a median of 2.0 days.
Actionable recommendations were provided in 97 e-consults, with 82% of ordering clinicians documented as following through.
The service was utilized by a variety of providers, predominantly generalists (77%).

Conclusions:

e-Consult models represent a viable strategy for enhancing access to genetics expertise.
The findings support the integration of e-consults into routine clinical practice to improve specialist accessibility.