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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 1

What the question is about and why it is important

A good quality publication will have clear aims. A publication should include an overview indicating what it is about, what it intends to cover and who it is meant for. Clear aims in a publication are important because they indicate what aspects will be addressed and help you to judge if the publication is likely to contain the information you need. It is particularly important to know what may not be included, as you may need additional information before you can make an informed decision about genetic testing.

Rating the question

Examine the opening paragraphs for a description of the content, scope and target audience of the publication. Although the publication's title may be descriptive, clear aims should still be outlined if the publication is to get a good rating. The aims should relate specifically to the information provided by the publication, which may not necessarily be covered by more general goals or purpose such as an organisation's Mission Statement. In the case of a Website or online information, you may need to search some of the background sections (e.g. About This Site) for aims - if they are hard to find, you should be cautious about giving a high rating to this question.

Guidelines for rating the question:

  • 5: yes - the publication has clear aims
  • 2 - 4: partially - the publication has aims but they are unclear or incomplete
  • 1: no - the publication does not include any indication of its aims
Examples:

We have devised simple examples here to demonstrate the quality criterion underlying Question 1. 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 cancer charity booklet includes the following paragraph on the opening page:

Some people are more likely to develop this form of cancer because they have inherited the faulty gene that causes it. If you have relatives with this form of cancer, you may be at risk. We have written this leaflet to provide some information which might help you decide whether or not to be tested. Its main aim is to help you estimate your chances of having the mutated gene. We also provide guidance on some of the personal and practical issues surrounding testing, although more detailed information about what you can do about your increased risk if you test positive is provided in our supplementary leaflet "Living with a Positive Result". Many things remain unknown, but we hope the leaflet clarifies some of the issues and provides you with questions about testing which you may like to discuss with your healthcare providers.

Example (ii) Huntington's Disease

An international health foundation factsheet includes the following on its opening page:

This is a hereditary disease caused by a faulty gene. This factsheet has been developed for patients and their families to explain:

  • The genetic mutation
  • How the disease is passed on
  • The chances of developing the disease
  • Genetic testing, including antenatal testing
In many cases, a diagnosis is confirmed by additional tests such as a neurological examination and a brain scan. More information about these tests is available from The Foundation's publications department. The Foundation also provides advice about this condition and treatment, and support services for families.
Example (iii) Antenatal screening and testing

A government health department leaflet distributed to all pregnant women through their family doctor commences:

During your early pregnancy, you may have a screening test for detecting Down's Syndrome in your baby. This is a routine test offered to all women during pregnancy, but there are many things you and your partner may want to consider beforehand. This leaflet contains the most important things you need to know about screening and testing for Down's Syndrome. It provides a brief description of the condition and what causes it, and explains the screening procedure and any followup testing that may be recommended. It also outlines your options if you receive a positive result at any stage during screening and testing, and includes sources of further information and support.
Partially rating:
Example (iv) Inherited muscle disorder

A website produced by a hospital genetics department is entitled Inheriting Muscular Dystrophy. The home page commences with:

This website has been produced by the Clinical Genetics department. Muscular Dystrophy is an inherited muscle disorder. Genetic testing is available in this department. The decision to be tested is a highly personal issue, and our counsellors are here to help you.

Additional rating notes: There is too little introductory text - although inferred, it is not clear whether providing information about testing is the main aim of the website or who the readers might be.

Example (v) Fragile X Syndrome

A consumer health company Web page entitled Screening Tests for Fragile X Syndrome 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. Additional rating notes: The content is implied from the title and opening, but there is no mention of any particular focus or omissions, including what type of test process Screening refers to.
1 Rating:
Example (vi) Carrier screening - Sickle cell disease

An international charity website provides information about Sickle cell disease. The Home Page provides the following menu:

  • About Us
  • Education
  • Health Professionals
  • Fundraising
  • Further help

A Mission Statement under About Us describes the aims of the charity as dedicated to supporting research on treatments for Sickle Cell Disease and supporting all those whose lives are affected by this condition.

Screening and testing information is provided in a brief paragraph in a subsection entitled For Parents under Education. More detailed information is provided under Diagnostics in the Health Professionals section.

Additional rating notes: The content is implied, but none of the pages or subsections commence with any indication of what is included in the text or who it is written for. Users interested in carrier screening and testing would have to work hard to find the information they need.