Parent decision‐making around the genetic testing of children for germline TP53 mutations. Issue 2 (15th September 2014)

• Record Type: Journal Article
• Authors: Alderfer, Melissa A.; Zelley, Kristin; Lindell, Robert B.; Novokmet, Ana; Mai, Phuong L.; Garber, Judy E.; Nathan, Deepika; Scollon, Sarah; Chun, Nicolette M.; Patenaude, Andrea F.; Ford, James M.; Plon, Sharon E.; Schiffman, Joshua D.; Diller, Lisa R.; Savage, Sharon A.; Malkin, David; Ford, Carol A.; Nichols, Kim E.
• Is Part Of: Cancer. Volume 121:Issue 2(2015)
• Page Start: 286
• Page End: 293
• Publication Date: 2014-09-15
• Subjects: Cancer -- Periodicals; Cancer -- Cytopathology -- Periodicals; 616.99405
• DOI: 10.1002/cncr.29027
• Languages: English
• ISSNs: 0008-543X

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="cncr29027-sec-0001" sec-type="section"> <title>BACKGROUND</title> <p>Li‐Fraumeni syndrome is a rare genetic cancer predisposition syndrome caused by germline <italic>TP53</italic> mutations. Up to 20% of mutation carriers develop cancer during childhood. The benefits of <italic>TP53</italic> mutation testing of children are a matter of debate and knowledge of parent decision‐making around such testing is limited. The current study examined how parents make decisions regarding <italic>TP53</italic> testing for their children.</p> </sec> <sec id="cncr29027-sec-0002" sec-type="section"> <title>METHODS</title> <p>Families offered and those pursuing <italic>TP53</italic> testing for their children were identified across the study sites. Qualitative interviews with 46 parents (39 families) were analyzed to describe decision‐making styles and perceived advantages and disadvantages of testing.</p> </sec> <sec id="cncr29027-sec-0003" sec-type="section"> <title>RESULTS</title> <p> <italic>TP53</italic> mutation testing uptake was high (92%). Three decision‐making styles emerged. Automatic decisions (44% of decisions) involved little thought and identified immediate benefit(s) in testing (100% pursued testing). Considered decisions (49%) weighed the risks and benefits but were made easily (77% pursued testing). Deliberated decisions (6%) were difficult and focused on psychosocial concerns (25% pursued testing). Perceived advantages of testing included promoting child health, satisfying a "need to know, " understanding why cancer(s) occurred, suggesting family member risk, and benefiting research. Disadvantages included psychosocial risks and privacy/discrimination/insurance issues.</p> </sec> <sec id="cncr29027-sec-0004" sec-type="section"> <title>CONCLUSIONS</title> <p>Although empirical evidence regarding the benefits and risks of <italic>TP53</italic> testing during childhood are lacking, the majority of parents in the current study decided easily in favor of testing and perceived a range of advantages. The authors conclude that in the context of a clinical diagnosis of Li‐Fraumeni syndrome, parents should continue to be offered <italic>TP53</italic> testing for their children, counseled regarding potential risks and benefits, and supported in their decision‐making process. <bold><italic>Cancer</italic> 2015;121:286–93</bold>. © <italic>2014 American Cancer Society</italic>.</p> </sec> </abstract>