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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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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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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...
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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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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...
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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.
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Defining personal utility in genomics: A Delphi study.

J N Kohler1, E Turbitt1, K L Lewis2

  • 1Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, Maryland.

Clinical Genetics
|February 21, 2017
PubMed
Summary
This summary is machine-generated.

Patients value genome sequencing for personal utility beyond clinical use. Key benefits include increased self-knowledge, understanding health conditions, altruism, and coping strategies.

Keywords:
Delphigenetic testinggenomicspersonal outcomespersonal utilityutility

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Area of Science:

  • Genomic Medicine
  • Patient-Reported Outcomes
  • Bioethics

Background:

  • Individual genome sequencing offers benefits beyond direct clinical applications, termed 'personal utility'.
  • Personal utility encompasses patient-endorsed, non-clinical outcomes derived from genomic information.
  • Empirical data defining personal utility outcomes has been lacking.

Purpose of the Study:

  • To empirically delineate the core components of personal utility from patient perspectives.
  • To identify and rank the most highly endorsed non-clinical outcomes of genome sequencing.

Main Methods:

  • A Delphi survey was administered to adult participants in a National Institute of Health (NIH) clinical exome study.
  • Forty participants rated 35 items on personal utility, identified through a systematic literature review.
  • Two rounds of ranking were conducted to achieve consensus on the most significant outcomes.

Main Results:

  • Twenty-four items representing 14 distinct elements of personal utility were identified.
  • The most highly endorsed elements included increased self-knowledge and understanding of health conditions.
  • Altruism and anticipated coping strategies were also significant components of personal utility.

Conclusions:

  • This study provides the first systematic delineation of personal utility elements in genome sequencing.
  • Findings can inform patient expectations and genetic counseling prior to sequencing.
  • Further validation in diverse populations is needed to assess generalizability and refine understanding of motivations.