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Related Concept Videos

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...
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
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...

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Personal genomics services: whose genomes?

David Gurwitz1, Yael Bregman-Eschet

  • 1Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. gurwitz@post.tau.ac.il

European Journal of Human Genetics : EJHG
|March 5, 2009
PubMed
Summary
This summary is machine-generated.

Direct-to-consumer (DTC) personal genomics services offer online access to individual genetic information. Current regulations lag behind this technology, raising privacy and data ownership concerns for consumers.

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Infinium Assay for Large-scale SNP Genotyping Applications
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Area of Science:

  • Genomics
  • Bioethics
  • Health Law

Background:

  • Direct-to-consumer (DTC) personal genomics services are rapidly emerging online.
  • These services provide individuals with genetic information on disease susceptibility and traits via genome-wide SNP scans.
  • The scientific validity and clinical utility of these DTC services are under active debate.

Purpose of the Study:

  • To highlight ethical and regulatory gaps in the DTC personal genomics market.
  • To address concerns regarding unauthorized DNA testing and data ownership.
  • To propose solutions for enhancing consumer privacy and data security.

Main Methods:

  • Analysis of current ethical and regulatory landscapes for personal genomics.
  • Identification of potential risks associated with DTC genetic testing.
  • Review of existing legislation in the US and Europe.

Main Results:

  • Significant ethical and regulatory questions surrounding DTC genetic testing remain inadequately addressed.
  • Existing legislation in the US and Europe does not sufficiently cover data privacy and ownership for personal genomics services.
  • Unauthorized third-party access to genetic data and unclear customer data rights are pressing issues.

Conclusions:

  • Commercial providers of DTC personal genomics services should self-regulate to mitigate privacy risks.
  • A trustee model is proposed for providers, regulators, and policymakers to address consumer concerns.
  • Urgent attention is needed to align regulations with the rapid advancements in personal genomics technology.