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Direct-to-Consumer Genetic Testing Summary of a Workshop (2011) / Chapter Skim
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Appendix A: Glossary Of Terms And Acronyms
Pages 43-46

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From page 43...
... These two genes normally produce proteins involved in DNA repair. Mutations in these genes are associated in certain populations with a high risk for breast cancer and a significantly increased risk for ovarian cancer -- with or without a family history of those disorders.
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From page 44...
... An ethical and legal requirement in both clinical practice and in research with human participants that is necessary to ensure that an individual patient or client is aware of the risks and benefits of participating in research or of undergoing a clinical procedure. The individual must be informed of the nature of the procedure, possible alternatives, and any costs and potential risks as well as benefits.
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From page 45...
... phenotype. The observable physical characteristics of an organism, as determined by its genetic makeup, epigenetic modifications, and typi cally, by environmental influences.
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Key Terms

  • increased risk
  • genetic makeup
  • breast cancer
  • dominant allele
  • genome wherein

  • mutations account
  • physical characteristics
  • nucleotide differs
  • breast cancers
  • nondiscrimination act

  • family history
  • normally produce
  • information nondiscrimination
  • observable physical
  • consensus genome

  • identical alleles
  • individual patient
  • human participants
  • single nucleotide
  • produce proteins

  • constituents interact
  • dietary constituents
  • insurance portability
  • proteins involved
  • accountability act

  • specific alleles
  • clinical laboratory
  • genes normally
  • medicaid services
  • dna sequence


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