Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.
Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.
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DOI：
10.1111/cge.12004
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发表时间：
2013-01
影响因子：
3.5
通讯作者：
Bernhardt BA
中科院分区：
文献类型：
--
作者：
Reiff M;Ross K;Mulchandani S;Propert KJ;Pyeritz RE;Spinner NB;Bernhardt BA
Chromosomal microarray analysis (CMA) has improved the diagnostic rate of genomic disorders in pediatric populations, but can produce uncertain and unexpected findings. This paper explores clinicians’ perspectives and identifies challenges in effectively interpreting results and communicating with families about CMA. Responses to an online survey were obtained from 40 clinicians who had ordered CMA. Content included practice characteristics and perceptions, and queries about a hypothetical case involving uncertain and incidental findings. Data were analyzed using non-parametric statistical tests. Clinicians’ comfort levels differed significantly for explaining uncertain, abnormal, and normal CMA results, with lowest levels for uncertain results. Despite clinical guidelines recommending informed consent, many clinicians did not consider it pertinent to discuss the potential for CMA to reveal information concerning biological parentage or predisposition to late-onset disease, in a hypothetical case. Many non-genetics professionals ordering CMA did not feel equipped to interpret the results for patients, and articulated needs for education and access to genetics professionals. This exploratory study highlights key challenges in the practice of genomic medicine, and identifies needs for education, disseminated practice guidelines, and access to genetics professionals, especially when dealing with uncertain or unexpected findings.
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影响因子：
3.9
作者：
Dondorp, Wybo;Sikkema-Raddatz, Birgit;de Wert, Guido
通讯作者：
de Wert, Guido
DOI：
10.1097/gim.0b013e3181f8baad
发表时间：
2010-11
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Manning M;Hudgins L;Professional Practice and Guidelines Committee
通讯作者：
Professional Practice and Guidelines Committee
影响因子：
7.4
作者：
Deftos, LJ
通讯作者：
Deftos, LJ
影响因子：
9.8
作者：
Miller, David T.;Adam, Margaret P.;Ledbetter, David H.
通讯作者：
Ledbetter, David H.
影响因子：
2.1
作者：
Cho, Mildred K.
通讯作者：
Cho, Mildred K.