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Discern Genetics Quality Criteria

Question 2

Does it achieve its aims?

Hint: Consider if it provides the information it aimed to, as outlined in question 1

Guidance for question 2

What the question is about and why it is important

A good quality publication will cover the information it has aimed to provide.

Question 2 is designed to help you assess whether the information that was outlined at the beginning of the publication has actually been provided. This question is important because a publication that does not achieve its aims is incomplete and you may need more information before you can make an informed decision about genetic testing.

Rating the question

After reading the publication, refer back to the aims and consider whether all the information you were led to expect has been provided. If aims were outlined but were not clear or were incomplete (rated 'partially' on Question 1), you need to use your judgement to decide what expectations the aims had raised and then rate to what extent those expectations have been fulfilled.

Guidelines for rating the question:

  • 5: yes - all the information you were expecting from a description of the aims has been provided
  • 2 - 4: partially -some of the information you were expecting from the aims has been provided
  • 1: no - none of the information you were expecting from the aims has been provided
  • N/A - the publication did not have clear aims (rated '1' on Question 1). Question 2 is irrelevant and should be rated "Not applicable".

Examples

We have devised simple examples here to demonstrate the quality criterion underlying Question 2. However, the information rated by this question should also have clear sources and referencing where appropriate as outlined in Question 16. For further guidance and examples, please refer to the section on Question 16 in the Handbook.

5 rating:
Example (i) Inherited cancer - rated '5' on Question 1 (Example (i))

In accordance with its aims, the publication provides a detailed explanation as to who may be at risk and why a genetic test may or may not be recommended. Details of the test includes a description of what it involves and how the results are interpreted. It also outlines in detail many personal and practical issues that need consideration before being tested (as covered by later DISCERN Genetics questions). Although the implications of a positive test result are mentioned in these sections, readers are referred to a separate leaflet providing more detailed information about living with a positive result and the condition itself.

Example (ii) Huntington's Disease - rated '5' on Question 1. (Example (ii))

In accordance with its aims, the publication provides detailed information about the genetic basis of the condition, its transmission and presentation, and genetic tests for the condition.

Additional rating notes for (i) and (ii): In both examples, the aims were very specific and additional information such as other testing procedures (Huntington's example) or care options and quality of life issues were not intended to be included. It is good practice to list publications and organisations providing this additional information (see Question 15), although these examples would still get a high rating on this question without this information.

Partially rating:
Example (iii) Fragile X Syndrome - rated 'Partially' on Question 1 (Example (v))

A consumer healthcare company Web page entitled Screening Tests for Fragile X syndrome and commences with the statement:

There have been significant advances in detection of Fragile X in recent years and there is now an accurate test available.

The website is a scientific document outlining the development of a new blood testing kit and comparing its reliability and commercial potential with an existing kit.

Additional rating notes: The publication does not provide any information about the condition or the actual testing procedure, including decisions about testing, which might be expected from the title and opening statement and which would provide a context for testing.

1 rating:
Example (iv) Haemochromatosis

A University hospital web page entitled Haemochromatosis includes an opening statement that it aims to provide information about this rare, inherited blood disorder. The publication describes the genetic fault underlying the condition and the technicalities of a genetic test.

Additional rating notes: There is no information about the background, effects or treatment of the condition which would be expected from the stated aim.