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Related Concept Videos

Genetic Screens02:46

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 result in visible changes...
Genome-wide Association Studies-GWAS01:11

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...
What is Population Genetics?01:25

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.While some alleles of a given gene might be observed commonly, other variants...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

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Updated: Jul 14, 2026

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

Published on: April 4, 2018

Geographic and Social Equity in Population-Wide Genomic Screening.

Kalyani Sonawane1,2, Daniel P Judge3, Ella Moore1,2

  • 1Department of Public Health Sciences, College of Medicine, Medical University of South Carolina, Charleston.

JAMA Network Open
|July 13, 2026
PubMed
Summary

Population-wide genomic screening (PWGS) effectively reached diverse populations in South Carolina, including rural and socially disadvantaged areas. This approach, combining implementation science and informatics, shows promise for expanding genetic screening access.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Area of Science:

  • Genomics
  • Public Health
  • Implementation Science

Background:

  • Population-wide genomic screening (PWGS) for high-penetrance genetic conditions like hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome, and familial hypercholesterolemia is crucial for early detection and intervention.
  • States with rural and socially disadvantaged populations face barriers to PWGS, limiting its reach.

Purpose of the Study:

  • To evaluate if combining implementation science and informatics infrastructure supports PWGS.
  • To assess screening coverage and positivity rates based on rurality and social disadvantage.

Main Methods:

  • A cross-sectional study of the In Our DNA SC statewide PWGS program.
  • Data from 50,897 adults who completed screening were analyzed.
  • Screening coverage and positivity were stratified by Rural-Urban Continuum (RUC) codes and Social Vulnerability Index (SVI) quartiles.

Main Results:

  • PWGS demonstrated broad geographic and social reach across South Carolina.
  • Screening coverage varied by RUC code and SVI, with higher rates in more urban and less disadvantaged areas.
  • Positivity prevalence for HBOC, Lynch syndrome, and familial hypercholesterolemia was generally consistent across RUC codes and SVI quartiles, with some exceptions for HBOC in more urban areas.

Conclusions:

  • A statewide PWGS program, supported by implementation science and informatics, achieved broad reach in diverse communities.
  • This model shows potential for delivering genomic screening to underserved populations.
  • Further evaluation of clinical and behavioral outcomes is necessary to determine program effectiveness.