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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...
What is Genetic Engineering?00:49

What is Genetic Engineering?

Overview
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...
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...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Mutations01:39

Mutations

Overview

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Direct-to-consumer genetic testing: good, bad or benign?

T Caulfield1, N M Ries, P N Ray

  • 1Faculty of Law, School of Public Health, University of Alberta, Edmonton, Alberta, Canada. tcaulfld@law.ualberta.ca

Clinical Genetics
|December 9, 2009
PubMed
Summary
This summary is machine-generated.

Direct-to-consumer (DTC) genetic testing offers broad access but often provides limited predictive value. Further research and professional education are crucial for understanding and managing DTC genetic information responsibly.

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Area of Science:

  • Genomics
  • Consumer Health
  • Bioethics

Background:

  • Direct-to-consumer (DTC) genetic tests are increasingly available commercially.
  • Many DTC tests, particularly those using genome-wide association studies, offer limited predictive risk information.
  • The rapid translation of genetic research into DTC products raises concerns about premature marketing and understanding of results.

Purpose of the Study:

  • To examine consumer understanding and utilization of genetic risk information from DTC testing.
  • To address the need for healthcare professional education regarding DTC genetic services.
  • To explore regulatory approaches for DTC genetic testing companies.

Main Methods:

  • Analysis of current market trends in DTC genetic testing.
  • Review of ongoing large-scale studies on consumer engagement with genetic risk information.
  • Examination of governmental and intersectoral initiatives for regulation and standard development.

Main Results:

  • The predictive value of many DTC genetic tests is limited.
  • Consumer comprehension and use of DTC genetic risk information require further investigation.
  • Regulatory bodies and professional organizations are considering oversight for DTC genetic testing.

Conclusions:

  • Understanding the benefits, risks, and limitations of DTC genetic testing is essential.
  • Healthcare professional education is necessary to support patients using DTC services.
  • Collaborative efforts are needed to establish standards for the responsible development and marketing of personalized genomic commerce.