The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care

Sarah Bowdin, Peter N. Ray, Ronald D. Cohn, M. Stephen Meyn

Research output: Contribution to journalArticlepeer-review

Abstract

Our increasing knowledge of how genomic variants affect human health and the falling costs of whole-genome sequencing are driving the development of individualized genetic medicine. This new clinical paradigm uses knowledge of an individual's genomic variants to guide health care decisions throughout life, to anticipate, diagnose, and manage disease. While individualized genetic medicine offers the promise of transformative change in health care, it forces us to reconsider existing ethical, scientific, and clinical paradigms. The potential benefits of presymptomatic identification of at risk individuals, improved diagnostics, individualized therapy, accurate prognosis, and avoidance of adverse drug reactions coexist with the potential risks of uninterpretable results, psychological harm, outmoded counseling models, and increased health care costs. Here, we review the challenges of integrating genomic analysis into clinical practice and describe a prototype for implementing genetic medicine. Our multidisciplinary team of bioinformaticians, health economists, ethicists, geneticists, genetic counselors, and clinicians has designed a "Genome Clinic" research project that addresses multiple challenges in genomic medicine-ranging from the development of bioinformatics tools for the clinical assessment of genomic variants and the discovery of disease genes to health policy inquiries, assessment of clinical care models, patient preference, and the ethics of consent.

Original languageEnglish (US)
Pages (from-to)513-519
Number of pages7
JournalHuman mutation
Volume35
Issue number5
DOIs
StatePublished - May 2014

Keywords

  • Ethical concerns
  • Health policy
  • Incidental findings
  • Next-generation sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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