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Genetic diagnosis and testing in clinical practice.

Elizabeth McPherson1

  • 1Medical Genetics Services, Marshfield Clinic, Marshfield, WI 54449, USA. mcpherson.elizabeth@marshfieldclinic.org

Clinical Medicine & Research
|July 1, 2006
PubMed
Summary

Genetic testing analyzes DNA for inherited diseases. Informed decisions require understanding risks, benefits, and clinical utility beyond just test accuracy, emphasizing patient counseling.

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Area of Science:

  • Genetics and Genomics
  • Medical Diagnostics

Background:

  • Genetic testing involves analyzing biological components to identify heritable disease-related markers for clinical use.
  • This review focuses on diagnostic and predictive genetic testing, including presymptomatic and predisposition testing.

Purpose of the Study:

  • To outline the critical factors influencing decisions regarding genetic testing.
  • To emphasize the importance of clinical utility and patient counseling in genetic testing.

Main Methods:

  • Review of diagnostic and predictive genetic testing principles.
  • Discussion of factors influencing decision-making for presymptomatic and predisposition testing.
  • Highlighting the role of clinical evaluation and counseling.

Main Results:

  • Genetic testing decisions require consideration of analytic accuracy, cost, availability, and clinical utility (sensitivity, specificity, interpretability).
  • Medical and family history are crucial for selecting and interpreting diagnostic tests.
  • Thorough patient counseling is essential for informed decision-making in presymptomatic and predisposition testing.

Conclusions:

  • Genetic testing decisions must balance analytic accuracy with clinical utility and patient understanding.
  • Comprehensive clinical evaluation and counseling are indispensable for effective genetic testing and interpretation.
  • Informed patient choice is paramount, especially for predictive genetic testing, necessitating a thorough risk-benefit assessment.

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