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Editorial - open access
Public interest in genetics continues to be bolstered by media coverage, especially when endorsed by a celebrity. For example, when Angelina Jolie announced that she is a BRCA1 mutation carrier and elected to have bilateral prophylactic mastectomy, the general public was highly aware of her story, but did not have an improved understanding of the accompanying issues.14
....Consequently, although there is undoubtedly an economic and time advantage to panel genetic testing versus a step-wise approach,
more testing is not necessarily better testing. Data such as those reported by Thompson et al1 clearly identify clinically relevant genes beyond BRCA1 and BRCA2, and panel testing for genes with clear phenotypic overlap is justified. For example, evidence is mounting that PALB2 may be clinically indistinguishable from BRCA2 with regard to breast cancer risk10; this is further supported by the data in the study by Thompson et al1, leading them to refer to PALB2
as an ideal panel gene. However, testing clinically for large numbers
of genes with unclear clinical significance—or including
genes that are not indicated on the basis of personal
history, family history, or ethnicity just because we can—may be putting
the cart before the horse. The issues currently being
faced in clinical genetics will continue and will likely increase
exponentially.
As quickly as new genes are discovered, clinical
laboratories will incorporate them into their panels. Alas, that
proverbial
horse may already be out of the barn. Therefore,
particularly in this era of considerable uncertainty, complex, clinical
panel-based
genetic testing should be approached with extreme
caution, and ideally only in consultation with trained genetics
professionals.18
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