Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines

Wylie Burke, Ellen Wright Clayton, Susan M Wolf, Susan A Berry, Barbara J. Evans, James P. Evans, Ralph Hall, Diane Korngiebel, Anne Marie Laberge, Bonnie S LeRoy, Amy L. McGuire

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations


Genomic sequencing and multigene panel tests are moving rapidly into clinical practice for a range of indications, but the evidence to guide appropriate use is currently limited. Well-crafted advice is needed to reduce unjustified practice variation, minimize risk of error and harm to patients, and encourage best practices. In the absence of definitive evidence, provisional advice can be helpful if it clarifies the potential benefits and risks of different courses of action and identifies the knowledge gaps most important to address in future research. This paper proposes an evolutionary process starting with clinical practice advisory documents (CPADs) and culminating in clinical practice guidelines (CPGs), using two case examples to illustrate the need for this process. When evidence is limited, CPADs can clarify current practice options and identify key knowledge gaps. Added evidence can then support updates to the CPADs over time. Ultimately CPADs can provide the foundation for definitive CPGs as the evidence base matures. This approach addresses an important challenge in genomics and may be applicable to other fields in which technology and practice are outpacing evidence generation.

Original languageEnglish (US)
Pages (from-to)2431-2438
Number of pages8
JournalGenetics in Medicine
Issue number11
StatePublished - Nov 1 2019

Bibliographical note

Funding Information:
Supported in part by National Institutes of Health (NIH) grant 1R01HG008605 on “LawSeqSM: Building a Sound Legal Foundation for Translating Genomics into Clinical Application,” and by NIH grants U01HG003374, K01HG008180, and 5U01HG008672-04. A.-M.L. received a Canadian Institutes of Health Research (CIHR) New Investigator Salary Support Grant and an FRQS Starting Grant for New Investigators—Junior 1.

Publisher Copyright:
© 2019, American College of Medical Genetics and Genomics.


  • clinical practice guidelines
  • evidence
  • genomic medicine
  • genomics
  • practice advice


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