Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

Carmit Mcmullen, Benjamin S. Wilfond, Frances L. Lynch, Jacob A. Reiss, Marian J. Gilmore, Patricia Himes, Tia L. Kauffman, James V. Davis, Gail P. Jarvik, Jonathan S. Berg, Cary Harding, Kathleen A. Kennedy, Dana Kostiner Simpson, Denise I. Quigley, C. Sue Richards, Alan F. Rope, Katrina A.B. Goddard

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Advances in genome sequencing and gene discovery have created opportunities to efficiently assess more genetic conditions than ever before. Given the large number of conditions that can be screened, the implementation of expanded carrier screening using genome sequencing will require practical methods of simplifying decisions about the conditions for which patients want to be screened. One method to simplify decision making is to generate a taxonomy based on expert judgment. However, expert perceptions of condition attributes used to classify these conditions may differ from those used by patients. To understand whether expert and patient perceptions differ, we asked women who had received preconception genetic carrier screening in the last 3 years to fill out a survey to rate the attributes (predictability, controllability, visibility, and severity) of several autosomal recessive or X-linked genetic conditions. These conditions were classified into one of five taxonomy categories developed by subject experts (significantly shortened lifespan, serious medical problems, mild medical problems, unpredictable medical outcomes, and adult-onset conditions). A total of 193 women provided 739 usable ratings across 20 conditions. The mean ratings and correlations demonstrated that participants made distinctions across both attributes and categories. Aggregated mean attribute ratings across categories demonstrated logical consistency between the key features of each attribute and category, although participants perceived little difference between the mild and serious categories. This study provides empirical evidence for the validity of our proposed taxonomy, which will simplify patient decisions for results they would like to receive from preconception carrier screening via genome sequencing.

Original languageEnglish (US)
Pages (from-to)574-582
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
StatePublished - Mar 1 2016


  • Gene carrier testing
  • Genetic condition taxonomy
  • Genetics
  • Genome sequencing
  • Patient perceptions

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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