Table 2.

Search method to identify references of evidence based practice guidelines, systematic reviews, or expert consensus based practice guidelines. For stage I, these steps are completed only until at least one relevant reference is identified. For stage II, all steps are completed to identify a comprehensive list of references based on this search method.

Step	Method
1	Identify synonyms for the condition, name of involved gene(s), and the OMIM identification number from the following sites: OMIM: http://www.ncbi.nlm.nih.gov/omim GeneTest Review: http://www.ncbi.nlm.nih.gov/sites/GeneTests/review
2	If a GeneTest review exists, search for a link to a treatment guideline within the text (e.g., a “Guideline” flag) or reference list.
3	Search OMIM for a link to a guideline.
4	Search guidelines.gov for condition name and any synonyms identified in step 1.
5	In Pubmed: Select MeSH from the search pull down menu. Search for the condition. In the list of results select the one that is relevant. On the right side select “Add to search builder” and then “search pubmed”. On the side under article types select “practice guidelines” and “systematic reviews”.
6	If no relevant MeSH term is identified using the condition name see if MeSH terms exist for the synonyms, individual genes, or a larger category that the disease might fall under (e.g., inborn errors of metabolism). If no terms are identified or the term is too broad, search Pubmed using the condition or gene name as text words and limit article types to “practice guidelines” and “systematic reviews”.
7	Consider the following sources if no systematic reviews or practice guidelines are identified in the previous steps: OrphaNet: http://www.orpha.net/consor/cgi-bin/index.php Clinical Utility Gene Cards: http://www.nature.com/ejhg/archive/categ_genecard_012011.html