Table 2.

Genetic terminology used in titles of genetic risk prediction studies and retrieval of the studies in PubMed

Terminology	Reference	PubMed clinical query				Genetic risk predictionb
		Clinical prediction guides		Prognosis
		Narrow	Broad	Narrow	Broad
Candidate gene genotypes	[55]	No	Yes	No	Yes	No
DNA variants	[33]	No	Yes	No	Yes	Yes
Gene polymorphisms	[54]	No	Yes	Yes	Yes	Yes
Gene variants	[32]	No	No	Yes	Yes	No
Genetic approaches	[92]	No	Yes	No	Yes	Yes
Genetic prediction	[93]	No	Yes	No	Yes	Yes
Genetic risk factors	[52]	No	Yes	Yes	Yes	Yes
Genetic risk score	[35]	No	Yes	Yes	Yes	Yes
Genetic variables	[6]	No	Yes	No	Yes	Yes
Genetic variants	[67]	No	No	No	No	No
	[31]	No	Yes	Yes	Yes	Yes
Genetic variation	[56]	No	Yes	Yes	Yes	Yes
Genotype score	[48]	No	Yes	No	Yes	Yes
Molecular prediction	[7]	No	Yes	Yes	Yes	Yes
Polygenic determinants	[8]	No	No	No	No	No
Polymorphisms	[51]	No	Yes	No	Yes	Yes
	[42]	No	Yes	No	Yes	Yes
	[47]	No	Yes	Yes	Yes	No
	[34]	No	Yes	No	Yes	Yes
	[43]	No	Yes	Yes	Yes	Yes
	[36]	No	Yes	No	Yes	Yes
Susceptibility gene variants	[30]	No	No	No	No	No
Weighted genetic score	[57]	No	No	No	Yes	Yes
No mention of genetics in title	[37]	Yes	Yes	No	Yes	Yes
Retrieved (out of 24)		1	19	9	21	18
(genetic[ti] or gene[ti] or DNA[ti] or polymorphism*[ti] or molecular[ti] or polygenic[ti]) AND < query >a		4,772	156,641	18,090	67,931
(Genetic or genomic) risk predictionb						1,597

Retrieval data were obtained from PubMed queries conducted in February 2010

^aThe first part of this strategy captures the genetic descriptions from the titles of all papers listed in the table, except the one that had no mention of genetics in the title. The second part refers to the query listed in the column heading

^bThe search strategy used in the last column is described in the last row