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Delivering genetic screening to the community

B Modell1

  • 1Department of Primary Care and Population Sciences, University College London, Royal Free Hospital Schools of Medicine, UK. b.modell@ucl.ac.uk

Annals of Medicine
|April 30, 1998
PubMed
Summary

Genetic screening for hemoglobin disorders like thalassemia and sickle cell disease is effective. Overly widespread screening is less of a risk than inadequate screening, highlighting the need for community genetics and IT support.

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Area of Science:

  • Medical Genetics
  • Public Health
  • Genomics

Background:

  • Hemoglobin disorders, including thalassemias and sickle cell disorders, are common, severe, and recessively inherited genetic conditions.
  • Carrier screening for these disorders is highly accurate (99%) using conventional blood tests, enabling identification of at-risk couples.
  • Existing carrier-screening programs have over 20 years of practical experience in delivering services to populations.

Purpose of the Study:

  • To evaluate the potential for widespread genetic screening in the future.
  • To highlight the effectiveness of hemoglobin disorder screening as a model.
  • To propose the role of information technology in community genetics.

Main Methods:

  • Review of existing carrier-screening programs for hemoglobin disorders.
  • Analysis of practical experiences in delivering genetic screening services equitably.
  • Assessment of the accuracy and utility of conventional blood tests for carrier detection.

Main Results:

  • Carrier screening for hemoglobin disorders is a well-established and accurate method.
  • Experience suggests the risk of insufficient, rather than excessive, genetic screening.
  • Challenges exist in equitable delivery of genetic screening services to entire populations.

Conclusions:

  • The primary risk in genetic screening is not over-application but rather poor implementation and access.
  • There is a need for a dedicated discipline of 'community genetics'.
  • Modern information technology can significantly improve community access to accurate genetic information and services.

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