Playing the genome card

Ari Berkowitz1

  • 1Department of Biology and Cellular & Behavioral Neurobiology Graduate Program, University of Oklahoma, Norman, OK, USA.

Journal of Neurogenetics
|December 25, 2019
PubMed

Insights

Genome sequencing has not revolutionized common disease treatment as predicted. Complex genetic and environmental factors, not single genes, cause most debilitating conditions, limiting genome sequencing

Area of Science:

  • Genomics
  • Medical Genetics
  • Disease Etiology

Background:

  • Predictions in the 1990s suggested genome sequencing would enable routine diagnosis and treatment of common diseases by 2020.
  • This vision has not materialized due to the complex genetic underpinnings of most debilitating conditions.

Purpose of the Study:

  • To analyze why genome sequencing has had a limited impact on treating common and debilitating diseases.
  • To examine the discrepancy between early predictions and current clinical utility of genome sequencing.

Main Methods:

  • Review of historical predictions regarding genome sequencing benefits.
  • Analysis of the genetic architecture of common and debilitating diseases.
  • Discussion of factors influencing the communication of scientific advancements.

Main Results:

  • Common and debilitating diseases are typically caused by complex interactions of multiple genes, epigenetic, environmental, and microbial factors, not single-gene mutations.
  • The utility of complete genome sequences for diagnosing and treating these complex conditions is limited.
  • Genome sequencing technologies have significantly advanced biological research but had a smaller-than-expected effect on common disease treatments.

Conclusions:

  • Early proponents of genome sequencing may have "mis-promised" its immediate medical benefits for common diseases.
  • Incentives for simplified scientific narratives may have contributed to misleading predictions about genetic causation.
  • Overstating the benefits of genome sequencing could potentially undermine long-term support for scientific research.

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