UKGTN Search Tools And Guidance

Transcription

1 UKGTN Website User Guidance for Clinicians 1

2 Contents General User Tips 3 1. HOME PAGE-OVERVIEW OF SEARCH TOOLS Find a Test offered by UKGTN member lab Find a laboratory-browse list General Search 4 2. FIND A TEST Search by Disorder and Gene Landing and search result page format Current search limitations for large NGS panel tests Test Service Page Test Service Option Page Search by laboratory Laboratory list page Laboratory detail page On-line Directory Gene Dossiers (GDs) GD landing page Example of GD that applies to subset of genes Testing Criteria (TCs) TC landing page Other databases 16 2

3 General User tips All blue text represents a hyperlink to an internal or external web page, documents, or phone contacts information. The Header links of the menu tab banners are in black text and turn red when cursor hoversselect to access sections. The general search tool and log-in feature (UKGTN and member laboratory admin only) is available on every page. 1. HOME PAGE-OVERVIEW OF SEARCH TOOLS UKGTN and lab administrators of back office log-in here: Front-site users do not require a log-in 1.3 General search of all content of website 1.1 Quick search of test database using approved/alternative name, MIM, HGNC of disorder or gene 1.2 Access a lab using drop-down list then select search 1.1 Find a Test offered by UKGTN member lab A searchable on-line database is available that lists all the tests offered by member laboratories that have been through the UKGTN evaluation process. This includes NHS price information as provided by the laboratories. A quick search entry point is available through the home page. It is possible to search by disorder or gene name, symbol or MIM/HGNC number. Using the search term Panel will list all the panel tests offered through the network. Using * to search with a root symbol /word e.g.col2 can improve search results. Using quotation marks ( ) will search exact phrases e.g. breast cancer. More test information is available through section 2 (Find a Test). 3

4 1.2 Find a laboratory-browse list If you wish to browse the list of UKGTN member laboratories a drop down list is available through the home page. Select a lab to access contact details and the list of services they offer. See section 2.2 for navigating to further information. 1.3 General Search You can search all the content of the website. This includes all published documents and UKGTN reports. Please use Find a Test to search the UKGTN on-line database of test services as your search through the General Search route is limited by test and lab only. An example search by neurology is shown below. General search- searches all content of website e.g. documents. Results will also include labs and tests from the test database but the intention is not to use this search facility to search for test service information. Use these tools to filter and sort your results 4

5 2. FIND A TEST More information about testing is available in this section. The landing page below provides guidance for searching the test database. The same find a test and find a laboratory search/browse features are available here as on the home page. 6 subsections provide further resources and search features. Sub menu of 6 options available in this section to access further test information These search tools function just as the ones available on the home page. 2.1 Search by Disorder and Gene Landing and search result page format All the tests offered by UKGTN member laboratories are listed here and several routes to further information are available. The landing page for this subsection lists all the tests offered through the network numerically and then alphabetically by test name. All blue text represents a hyperlink to further information. The test name is displayed as a hyperlink with the corresponding disorder and gene information. 5

6 If gene dossiers and testing criteria are available a note will be included. Selecting this takes you to the test service page (see below). You can alphabetically filter by test name and search using keywords. You can also filter by referring specialty. The specialty is listed according to the referrers in published testing criteria. If a test has no published testing criteria there will be no specialties assigned. The specialties are listed under the test name hyperlink. Select the alternative names & symbols tab to view this information. The disorders and genes are listed with MIM and HGNC numbers respectively. The disorder and gene names and symbols are assigned based on the approved name listed on the parent databases OMIM and HGNC respectively. For single disorder tests the test name corresponds to the approved disorder name. Multigene and large panels are assigned a test name relating to the group of disorders or clinical phenotype to be diagnosed. Please note that the layout format of this page is the same as that displayed in the search result page. Sort alphabetically by test name Perform a search Test name and note if Gene Dossier or Testing Criteria available Sort tests by specialties Select to access further test service information Select to access OMIM and HGNC entry 6

7 2.1.2 Current search limitations for large NGS panel tests All NGS panel tests have been assigned a test name in the following format: Clinical name X Gene Panel, where X=no of genes. e.g. Congenital Cataract 108 Gene Panel. You can browse a list of all panel tests by searching with panel as mentioned in section 1.1. The current database is unable to accommodate assigning a large number of disorders and genes to a test due to system and display constraints. Records can only be found if the search term (disorder or gene details) has been entered in to the system. Panels with less than 20 disorders and genes will have a complete listing. The UKGTN team are currently exploring ways to update the system to accommodate these tests. In the interim, you can browse or search (ctrl F) the list of disorders and genes listed as an appendix within the testing criteria for larger panels. This is indicated by the note see testing criteria for full list of disorders for panel tests in the disorder list and see testing criteria for full list of gene for panel tests in the gene list. An example is shown below. Labs are asked to provide the appropriate 19 search terms for disorder or 19 genes for their lists for entry into the website for display and search purposes. You can view full list in testing criteria appendix Scroll down to access Testing Criteria Document Select Testing Criteria and scroll down to appendices to view full list of disorders and genes. 7

8 CTRL F (to find) and type here to search for a gene Search result confirming gene is in panel 8

9 2.1.3 Test Service Page An example result is shown below for a search by Cadasil. Select the blue link for test name to access the test service page which provides further information including links to other databases. Search by cadasil gives 2 results Select hyperlink to access test service page shown below a note that there is 1 testing criteria available The test service page for the Cadasil test is below. Scroll down to see how many laboratories offer this test and the list of test service options. Additional links Select on hyperlink to access downloadable Testing Criteria Reporting time 9 This is a test service option- select hyperlink to access all details of this option-including laboratory contact details and price validation dates.

10 2.1.4 Test Service Option Page The test service options are filterable by service level, referral category and laboratory to enable NHS price comparisons between options. The prices listed are to inform NHS financial planning. Select your filtering options and then select search. Remember to reset by selecting all again for the filter option (s) you have used and then search. Select the test service option you wish to use for referral. An example is shown below. Lab validated price on this date Links to Lab website Contact details Select to access document detailing cytogenetic core service 10 Test disorder and gene information

11 Not all the prices are up-to-date as some of the labs have yet to complete updating their prices following the launch of this new website in July If the price has been updated there will be a price validation date under the price on the test service option page. If prices have not been updated within the last year or there is no date, you should contact the laboratories to check. 2.2 Search by laboratory Laboratory list page The landing page lists all the labs by alphabetical order of display name. You can either browse the list or filter by lab display name, service type or city. These are the names also in the drop down list on the home page. Select the lab hyperlink to access more information. Official name of lab Parental organisation Hyperlink to lab pagethis is the display name Filter alphabetically by display name Filter by service type Search by city 11

12 Laboratory detail page Lab website Lab contact details Core cytogenetics service information Search Aberdeen RGC test services here Alphabetic list of Aberdeen RGC test services 12

13 The test services are also searchable at this level. If the RGC also has a cytogenetics service the generic document is located that details the core services offered by the UKGTN membership. You can also filter by test name alphabetically and then search your filtered results. If you need to perform another search of all tests, type in new search term and remember to select All and then search. 2.3 On-line Directory This is an on-line version of the NHS Directory of Disorders/Genes for Diagnostic Testing and represents a list of all the disorders and associated genes for the test services offered through UKGTN. Please refer to the hard-copy version for a detailed description of the directory. Sort alphabetically by disorder name Search with terms as for test database Filter by section Filter by specialty Filter by commissioning 13

14 2.4 Gene Dossiers (GDs) The Gene Dossiers are accessible via the test list as previously described above in 2.1. You may wish to use this section to browse the list of GDs, search for a specific GD or filter by year of approval or author lab GD landing page The GDs are listing numerically and then alphabetically by the GD name. Sort alphabetically by gene dossier name Gene Dossier name Select hyperlink to access downloadable pdf Search with terms as for test database Filter by approval year Filter by author laboratory Disorders and Genes: please note that these are the disorders and genes assigned to the test not the gene dossier. For multi-gene tests where the GD is for a single disorder/gene or a subset of disorder/genes of the test the GD name will reflect this. An example is show below Example of GD that applies to subset of genes The GD name reflects correspondence to ACTA2 and MYH11 genes only. GD not available for other genes as these tests are grandfathered. 14

15 2.5 Testing Criteria (TCs) The TCs are accessible via the test list as previously described above in You may wish to use this section to browse the list of TCs, search for a specific TC or filter by year of approval. Sort TC landing page alphabetically by disorder name Testing Criteria name Select hyperlink to access downloadable pdf Search with terms as for test database Filter by approval year Disorders and Genes: please note that these are the disorders and genes assigned to the test not the TC. For multi-gene tests where the TC is for a single disorder/gene or a subset of disorder/genes of the test the TC name will reflect this. Same principle as for GDs. Remember for large panel tests (disorders and genes each greater than 20) you can access a full list of disorders and genes in the testing criteria appendices as detailed in section

16 2.6 Other databases Links to other databases to search for a test Links to databases for clinical and scientific information: search these to check searchable terms if you have no result e.g. search for disorder to obtain MIM number to recheck UKGTN database 16