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

Pedigree Analysis01:35

Pedigree Analysis

91.1K
Overview
91.1K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

69
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
69

You might also read

Related Articles

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

Sort by
Same author

Young people with intellectual disability speak out about life after school: "I want to do more in life than just…be a disability person".

Journal of intellectual & developmental disability·2025
Same author

Co-Producing a Package of Novel Online Resources to Support the Mental Health Needs of People With Persistent Pain: BeeFree.

Musculoskeletal care·2024
Same author

Functional nociceptin receptors are upregulated on human umbilical vein endothelial cells during experimental in vitro sepsis.

British journal of anaesthesia·2024
Same author

MOP and NOP receptor interaction: Studies with a dual expression system and bivalent peptide ligands.

PloS one·2022
Same author

Drug-receptor interactions in anaesthesia.

BJA education·2022
Same author

"I don't want to be a patient": Peer mentoring partnership fosters communication for autistic university students.

Scandinavian journal of occupational therapy·2020
Same journal

Psychosocial aspects of RUNX1-familial platelet disorder in adolescents and young adults: "The fear of knowing it could happen sometime down the road".

Journal of genetic counseling·2026
Same journal

Understanding risk perception and risk-reducing decision-making for surgery among individuals with a genetic predisposition to epithelial ovarian cancer.

Journal of genetic counseling·2026
Same journal

The expected utility and psychological impacts of exome sequencing results in the DDD-Africa study.

Journal of genetic counseling·2026
Same journal

Knowledge, acceptance, and willingness to pay for expanded carrier screening among obstetric patients in China: Implications for genetic counseling practice.

Journal of genetic counseling·2026
Same journal

A pilot qualitative study of patient understanding and perceptions of genetic counselors and cascade testing in the context of transthyretin cardiac amyloidosis.

Journal of genetic counseling·2026
Same journal

Establishment of the genetic counselor profession in Ukraine: Present challenges and prospective pathways.

Journal of genetic counseling·2026
See all related articles

Related Experiment Video

Updated: Apr 7, 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

12.8K

BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues.

B J Baty1, V L Venne, J McDonald

  • 1Department of Pediatrics, University of Utah, Salt Lake City, Utah.

Journal of Genetic Counseling
|July 5, 2015
PubMed
Summary
This summary is machine-generated.

This study details genetic counseling protocols for a large family with a BRCA1 mutation. It highlights counseling challenges and visual aids, offering a model for cancer susceptibility testing programs.

More Related Videos

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
08:53

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

15.2K
Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

6.1K

Related Experiment Videos

Last Updated: Apr 7, 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

12.8K
Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
08:53

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

15.2K
Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

6.1K

Area of Science:

  • Genetics
  • Oncology
  • Counseling Psychology

Background:

  • BRCA1 mutations significantly increase cancer risk.
  • Genetic counseling is crucial for individuals undergoing cancer susceptibility testing.
  • Evaluating counseling protocols is essential for effective patient support.

Purpose of the Study:

  • To present genetic counseling protocols developed for a large kindred with a BRCA1 mutation.
  • To discuss counseling issues and subject responses during cancer susceptibility testing.
  • To offer developed protocols and visual aids as models for other testing programs.

Main Methods:

  • Development of genetic counseling protocols.
  • Creation of specific genetic counseling visual aids.
  • Observation and documentation of subject concerns and responses during pretest and posttest counseling sessions.

Main Results:

  • Established genetic counseling protocols and visual aids for a BRCA1-positive kindred.
  • Identified key counseling issues and subject concerns during the initial 2 years of evaluation.
  • Observed subject responses to genetic testing in pretest and posttest counseling.

Conclusions:

  • The developed protocols and visual aids can serve as a model for cancer susceptibility testing programs.
  • Understanding subject concerns and responses enhances genetic counseling effectiveness.
  • Ongoing evaluation is vital for refining genetic counseling for hereditary cancer syndromes.