Discern Genetics Quality Criteria

Question 1

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Are the aims clear?

Guidance for question 16

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What the question is about and why it is important

A good quality publication should make it clear where the evidence for the information about genetic testing has come from. Information about genetic testing and screening choices should be accurate and based on the best available research evidence. Although DISCERN Genetics cannot be used to tell you whether the information you are reading is true or based on sound evidence (as this would require systematic checking against other sources), it does enable you to check whether the sources of information are explicit. Details of the sources are important, as they enable you to check the evidence or may encourage you to seek further information. Sources of evidence can include research articles and books (including online publications), and the opinions of experts such as clinicians and representatives from charities and self-help organisations

Rating the question

The hints guide you to look for details of the sources used to compile the text. Ideally, evidence presented in the text and details of its source should be linked. So, there are two main features to look for when rating this question:

1. in the text, a main statement or “fact” about genetic testing or cited research should be accompanied by a reference to the source of evidence for that information. This could be a name, quote, superscript number, or online link which will lead you to …
2. details of that source in a Bibliography or Reference list, Contacts or Additional Information list, or the actual source online

Other important points to note:

1. the author or producer is not considered a source for this question, as this information is nearly always provided and will not necessarily help you discriminate between good and poor quality publications. You need to know where the author or producer got their information from.
2. resources and publications rated as additional sources of support or information (Question 15) are not as the sources of evidence used to compile the publication unless they are acknowledged explicitly as a reference in the text as outlined in (a) above.
3. it is possible that the publication is based on a single source of information - it can rate highly on this question provided this is clear. Concern about the bias or balance of a publication based on a single source is a separate issue that is addressed more broadly in Question 18.
4. rating the quality of the sources or evidence is a separate issue beyond the scope of DISCERN Genetics

Guidelines for rating the question:

• 5: Yes – the sources of evidence are very clear and the publication enables you to link the source mentioned in the text to full reference details.
• 2-4: Partially – the sources of evidence are clear to some extent. Partial ratings would apply in any of the following cases:
  • sources are provided for some but not all of the main statements or facts (you may have to use your judgement to decide when reference to a source would be expected).
  • the relationship between the text and the sources is unclear
  • full details of the sources are not provided (so it would be difficult to trace them)
• 1. No: No sources of evidence are mentioned.

Examples

5 rating:

Example (i) Antenatal diagnostic testing – Amniocentesis (Leaflet): (A fictitious leaflet using real data and references - see also Question 7 Example (ii))

Amniocentesis during the second trimester of pregnancy is associated with a slightly increased risk of miscarriage (approximately 1% or 1 in 100 amniocentesis procedures are associated with miscarriage^1,2). This risk is higher earlier in pregnancy which is why amniocentesis is not usually offered before 15 weeks. ^1,2

The end of the publication includes a reference list as follows:

References

• 1. Alfirevic Z, Sundberg, K. Brigham S. Amniocentesis and chorionic villus sampling for prenatal diagnosis. The Cochrane Database of Systematic Reviews 2003, Issue 3. Art No: CD003252. DOI: 10.1002/14651858.CD003252. Available free online - The Cochrane Library 2006 Issue 1. Review abstract and Plain English Summary available here.
• 2 Royal College of Obstetricians and Gynaecologists (RCOG). Amniocentesis and chorionic villus sampling Greentop Guideline No.8 (3rd Edition). RCOG: London, January 2005. Available free from the RCOG Website.

Example (ii) Inherited cancer (A totally fictitious example):

An international cancer charity website provides the following information on genetic testing:

A review of the possible causes of this form of cancer published by A Foundation suggests that only about 1 in 100 cases are inherited. In 2003, scientists identified a genetic mutation amongst a large sample of families with a history of the disease which has led to the development of A Genetic Test. The test can detect the mutation with 85% accuracy and is now widely available. Research is ongoing to develop more sensitive and appropriate tests for the remaining 15% of cases that cannot be detected using this technique.

The underlined text links to the named organisation’s websites and to online research journals and reports.

Partially rating:

Example (iii) Antenatal testing

A leaflet ends with a list entitled References/Further Reading. The list consists of 10 books and journal articles. There is no mention of these publications in the text.

Additional rating notes: It is unclear which of these publications are sources and which are additional publications providing supplementary (and possibly different) information.

Example (iv) Neurological condition

A research charity website provides details of a new genetic test for an inherited neurological condition. Facts about the test – including test accuracy, procedure and risks – are attributed to a leading neurologist at a research institute. The name of the doctor and organisation are given, but there is no online access or printed details of the contact address or any publications.

Additional rating notes: There is not enough information to locate the source.

Example (v) General

A leaflet on genetic testing for an inherited disorder produced by a hospital genetics department consists of several sections:

• About this condition
• Testing for the condition


• Treatment and management of the condition.

Each section is several paragraphs long.

Two references are quoted in the text: one relates to the discovery of the genetic mutation in About this condition and one describes a trial of a new drug therapy under Treatments. A Bibliography at the end of the leaflet provides the full details of the research articles for each of these references. The text also describes guidelines on testing for this condition, a global survey of families at risk, and several other therapies, but no references in the text or bibliography are provided relating to these issues.

Additional rating notes: Sources are provided for some but not all of the main statements or facts included in the text.

1 Rating

Example (vi) Neonatal testing

A maternity hospital leaflet for parents provides information on neonatal screening. It includes a brief description of the conditions being detected and the test procedure, which is a blood spot test. The final page ends as follows:

This information was compiled by staff at The Maternity Hospital using research evidence.

© The Maternity Hospital 2004

Additional rating notes: details of the research evidence and other sources used are not provided.