TY - JOUR
T1 - Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing
AU - Mcmullen, Carmit
AU - Wilfond, Benjamin S.
AU - Lynch, Frances L.
AU - Reiss, Jacob A.
AU - Gilmore, Marian J.
AU - Himes, Patricia
AU - Kauffman, Tia L.
AU - Davis, James V.
AU - Jarvik, Gail P.
AU - Berg, Jonathan S.
AU - Harding, Cary
AU - Kennedy, Kathleen A.
AU - Simpson, Dana Kostiner
AU - Quigley, Denise I.
AU - Richards, C. Sue
AU - Rope, Alan F.
AU - Goddard, Katrina A.B.
N1 - Funding Information:
This work was supported by a grant from the National Human Genome Research Institute (UM1HG007292; co-PIs: Wilfond Goddard), with additional support from the Coordinating Center (U01HG007307; PI: Jarvik) and the NextMed Study (U01HG006375; PI: Jarvik) as part of the Clinical Sequencing Exploratory Research (CSER) consortium. The authors would like to thank the other members of the study team for their many useful insights and discussion about the study. Grant sponsor: National Human Genome Research Institute; Grant number: UM1HG007292; Grant sponsor: Coordinating Center; Grant number: U01HG007307; Grant sponsor: NextMed Study; Grant number: U01HG006375.
PY - 2016/3/1
Y1 - 2016/3/1
N2 - 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.
AB - 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.
KW - Gene carrier testing
KW - Genetic condition taxonomy
KW - Genetics
KW - Genome sequencing
KW - Patient perceptions
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U2 - 10.1002/ajmg.a.37477
DO - 10.1002/ajmg.a.37477
M3 - Article
C2 - 26792268
AN - SCOPUS:84959531703
SN - 1552-4825
VL - 170
SP - 574
EP - 582
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -