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The DISCERN Genetics Tool

DISCERN Genetics has been developed to ensure that there is an accessible appraisal tool for patients and other users of information about genetic screening and testing, and that information providers and producers have well-researched guidelines.

What is DISCERN Genetics for?

DISCERN Genetics is a tool which has been designed to:

As with DISCERN Treatment, DISCERN Genetics also has an educational function. The DISCERN Genetics rating process can be used to raise awareness of information quality issues, to stimulate debate and to provide a mechanism for promoting discussions between professionals and the public on informed choice about genetic screening and testing.

Who can use DISCERN Genetics?

DISCERN Genetics is suitable for anyone who uses information on genetic screening and testing, including antenatal and neonatal screening and testing. DISCERN Genetics also provides a reference point for authors. It enables producers, providers and users to assess information on genetic screening and testing in a standardised way. It can also empower professionals and the public in shared decision-making.

How was DISCERN Genetics developed?

DISCERN Genetics has undergone an extensive process of development and evaluation (Shepperd et al. 2006) using the same methods as DISCERN Treatment (Charnock et al., 1999).

Lay people with and without experience of a genetic condition, healthcare professionals, and providers and producers of health information analysed the quality of a sample of information on cystic fibrosis, Down’s Syndrome, familial breast cancer, familial colon cancer, haemochromatosis, Huntington's disease, sickle cell disease, and thalassaemia. These genetic conditions were selected to represent different populations, different disease pathways and treatment decisions. The information media could be print, online, CD, audio and video. A draft set of criteria based on the group’s analysis was developed and tested by the group on another sample of information. We analysed the performance of the draft criteria using a measure of inter-rater agreement (weighted kappa; Fleiss 1981) and group discussion, and the criteria were re-drafted to take account of the results. The second draft was tested by an independent sample of 30 health information consumers, producers and providers on information covering a broader range of genetic conditions. We conducted tests of inter-rater agreement and obtained feedback from this group on the tool’s performance and utility. The final version of the DISCERN Genetics tool consisted of 19 criteria plus an overall quality rating.

The rigorous process used to develop DISCERN Genetics has enabled us to identify a general set of guidelines for the content of written information on genetic screening and testing which can be consistently understood and applied by a wide range of users.

What else do I need to know about DISCERN Genetics?

Here are some important details about DISCERN Genetics and its use.

Judging the scientific accuracy of information

DISCERN Genetics, like any other stand-alone appraisal tool, cannot be used to assess the scientific accuracy of a publication, as this would require detailed checking against other sources. However, there are many indirect indicators of scientific accuracy which are included, and DISCERN Genetics can be used to judge the reliability of a publication as a source of information about testing and screening.

For example, DISCERN Genetics can be used to:

The growing body of research using DISCERN has confirmed that these are all key factors of high quality information, and that the DISCERN process of working through these criteria systematically provides a quick and reliable way of reaching an assessment of information quality.

No need for specialist knowledge or help

DISCERN Genetics can be used to judge the quality of a publication without the need for specialist knowledge. You can use DISCERN Genetics on your own to judge the quality of a single publication. DISCERN may also raise important issues which will lead you to seek further information or advice, and may be useful for selecting and comparing a range of information about testing for a genetic condition.

Presentation and Accessibility

DISCERN Genetics is designed to help you rate the quality of the publication in terms of its content. It does not include specific questions about the presentation of information (e.g. layout, graphics, readability, website navigation) as there is a lot of literature on the importance and use of these features. Furthermore, a publication that is well presented and readable is not necessarily informative and accurate. Our own experience during the development of each DISCERN tool has demonstrated poor agreement between raters (as measured by kappa (Fleiss 1981)) on questions about presentation. Independent studies examining the relationship between website accessibility (including readability indices, website characteristics and search engine rankings) and content quality measures, including DISCERN scores, have also produced inconsistent findings, sometimes demonstrating an inverse relationship between the two (Molassiotis & Xu, 2004; Bartels et al. 2003; Hargrave et al. 2003; Ilic et al. 2003; Griffiths & Christensen 2002).

DISCERN Genetics has been developed to examine what information a publication is providing, rather than how it is providing it. Nevertheless, ensuring that the information is accessible to a wide range of users is important and is now a legal requirement in the UK (Disability Discrimination Act, 2005). If you are responsible for producing patient information, particularly on the internet, there are key issues you must address in the production process regarding accessibility, usability and special needs. Please see Part 6 for suggested resources.

A note on Web pages

There has been ongoing debate about whether written information available in different media requires different sets of quality standards (for a review, see the special issue of the British Medical Journal 2002 (324)). It has been suggested that guidelines which have been developed largely using print materials are not appropriate for written information in other formats such as the internet. Our experience using print and Web-based materials (Charnock & Shepperd, 2004; Charnock & Clisby, 2000) has shown that DISCERN’s focus on information content ensures that the core standards remain the same regardless of the medium. Information users often prefer printed versions of electronic information, and many have successfully applied DISCERN to verbal communication such as consultations and telephone advice (Charnock & Shepperd, 2004). It would appear that distinguishing between these forms of information in terms of quality standards is largely artificial (Shepperd & Charnock, 2002).

However, there are some practical issues to consider when using DISCERN to rate dynamic information such as Web sites. The main issue to remember is that you should only rate information that “belongs” to that site: the existence of links to other websites may be important when considering certain DISCERN questions (e.g. Sources (Q16) and Currency (Q 17)) but the content of these other Websites is not what is being rated here. You may also find that a Website contains numerous links and that locating all the relevant information is laborious and confusing. Whilst this is largely a presentation and accessibility issue (poor navigation and site construction), it is also a question of clarity which is relevant to most of the DISCERN questions and which may therefore be a consideration when deciding about information quality. The more experience you gain with DISCERN, the more you will develop a sense of what is appropriate.

Again, the way information is packaged, presented and made accessible are separate but key considerations and we refer those interested to the relevant guidelines in Part 6.