Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
Cancer Prevention02:59

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Variant-specific RNA testing resolves variants of uncertain significance in exome testing.

BMC genomics·2026
Same author

Cigarette smoking drives earlier development of pancreatic adenocarcinoma among carriers of hereditary pancreatic cancer susceptibility genes.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]·2026
Same author

Lynch syndrome integrative epidemiology and genetics (LINEAGE): rationale for cohort design.

Familial cancer·2026
Same author

Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions.

European journal of human genetics : EJHG·2026
Same author

RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing.

Genetics in medicine open·2026
Same author

A history of the collaborative group of the Americas on inherited gastrointestinal cancer (CGA-IGC): 1995-2025.

Familial cancer·2026

Related Experiment Video

Updated: Jul 1, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Differences in Cascade Genetic Testing Among Families With Hereditary Cancer Risk.

Elia Namey1,2, Carolyn Horton3, Beth Dudley1

  • 1Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.

JAMA Network Open
|June 30, 2026
PubMed
Summary
This summary is machine-generated.

Cascade testing for hereditary cancer is underused, particularly among minority groups. Clinical and cultural factors, not cost, appear to be the main barriers to family genetic testing. Addressing these can improve cancer prevention.

More Related Videos

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Related Experiment Videos

Last Updated: Jul 1, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Area of Science:

  • Genetics and Genomics
  • Oncology
  • Public Health

Background:

  • Cascade testing, which involves germline genetic testing of family members after an individual is found to have a pathogenic variant in a cancer predisposition gene, is crucial for hereditary cancer prevention.
  • Understanding the rates and factors influencing cascade testing is essential for maximizing its preventive benefits.

Purpose of the Study:

  • To determine the frequency of cascade testing among family members of probands with pathogenic variants in cancer predisposition genes.
  • To evaluate demographic, socioeconomic, and clinical factors associated with cascade testing uptake.

Main Methods:

  • Retrospective cross-sectional study analyzing data from 22,932 probands who underwent multigene panel testing between December 2016 and August 2020.
  • Included probands with pathogenic or likely pathogenic variants (P/LPV) in Lynch syndrome or hereditary breast and ovarian cancer genes.
  • Assessed variables included proband demographics, cancer history, socioeconomic status, availability of free testing, and clinician credentials; cascade testing rates were compared using the chi-squared test.

Main Results:

  • Only 24.24% of probands had at least one family member undergo cascade testing.
  • Higher cascade testing rates were observed in individuals aged 40-79, women, non-Hispanic White individuals, those with a personal cancer history, and those seen by genetic counselors.
  • Significant disparities were found, with lower rates among male probands and those from racial or ethnic minority groups. Socioeconomic status and free testing availability showed minimal association with testing rates.

Conclusions:

  • Cascade testing for hereditary cancer predisposition is underutilized, with significant disparities observed across demographic groups.
  • Clinical and cultural factors appear to be more significant barriers than financial ones.
  • Findings highlight the need for targeted interventions to address barriers and improve cascade testing uptake, especially in minority populations, to enhance cancer prevention efforts.