Table 2 Genetic terminology used in titles of genetic risk prediction studies and retrieval of the studies in Pubmed

		Pubmed clinical query
		Clinical prediction guides		Prognosis
Terminology	Reference	Narrow	Broad	Narrow	Broad	Genetic risk prediction ^a
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〉^b		4772	156 641	18 090	67 931
(Genetic or genomic) risk prediction^a						1597

Retrieval data were obtained from PubMed queries conducted in February 2010.
^aThe search strategy used in the last column is described in the last row.
^bThe 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.

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