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Discern Genetics Quality Criteria

Question 1

Are the aims clear?

Hint: Look for a clear indication in the information of

  • what it is about
  • what it is meant to cover (and what topics are excluded)
  • who might find it useful

Note: It may be necessary to search for the aims especially in web based information

If the answer to question 1 is 'No', go directly to question 3

Guidance for question 19

What the question is about and why it is important

A good quality publication will highlight geographical variations in testing services. Genetic testing often involves rare genetic conditions and procedures that are still highly experimental or expensive. Tests and treatment may not be routinely available throughout your area – you may need to travel to a specialist unit or pay for services privately. It is also possible that testing standards (such as accuracy, procedural risks and waiting times) vary because of differences in the availability of special equipment and skilled staff. It is important to be aware of these issues when deciding about testing.

This question is only relevant to information about access to services in a specified area - the clinics or hospitals you may have access to. Information intended for a more general or international audience should not be rated.

Rating the question

Rate the question according to whether it provides details of local availability of services and test performance. How high you rate it will depend on your judgement of how well the relevant information has been covered.

Guidelines for rating the question:

  • 5: Yes – details of local availability of services and test performance are provided
  • 2-4: Partially details of local availability of services and test performance are provided, but the information is unclear or incomplete
  • 1: No – no details of local availability of services and test performance are provided (where they would be expected)
  • N/A – this question is not appropriate for this publication and should be rated “Not applicable”.

Examples

We have devised simple examples here to demonstrate the quality criterion underlying Question 19. 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

A national charity website provides information about genetic testing for an inherited cancer:

A genetic test for this condition is currently available free at all local hospitals to everyone with a strong family history of this cancer ( you will need assess your risk with your family doctor first). However, the test was developed at a time when all variants of the underlying genetic mutation had not been identified, and can only detect 7 in 10 people with the mutation. Recently, a more accurate test which can detect a wider range of variants of the genetic mutation (picking up 9 in 10 cases) has been developed. Not all laboratory staff have undergone training to conduct this genetic analysis, so it is only available through a few laboratories nationally for a fee.

However, there is also a national research programme into this cancer which is aimed at providing clearer information about risk factors and disease progression in people with the mutation. Volunteers are offered the new genetic test free of charge at a number of regional hospitals. Transport and accommodation is provided. For more details, speak with your family doctor or contact the research manager at The University Hospital (link to hospital website).

Partially rating:
Example (ii) General

Most hospitals offer the test, although some charge a fee. Waiting time for results ranges from 2 to 10 weeks.

Additional rating notes: there is no information about which hospitals do and don’t provide the test or charge a fee. There is no explanation of why waiting time for results varies, or where these variations occur

1 rating:
Example (iv) Cystic fibrosis

A popular book on child health produced by a national organisation of health professionals and distributed through local pharmacies includes details of a range of screening testing procedures for detecting cystic fibrosis both before and after birth. It provides a detailed description of the condition, including current understanding about its genetic causes and the ways in which different tests detect the condition. However, there is no mention of local availability or performance of any of the tests described.