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Discern Genetics Quality Criteria

Question 17

Is it clear when the information used or reported in the publication was produced?

Hint: Look for

  • dates of the main sources of information used to compile the publication
  • the date of the publication and any revision
  • an updating policy – particularly on internet sites

Guidance for question 4

What the question is about and why it is important

A good quality publication will include a description of treatment and management choices for the condition. This information is important when deciding about testing, as it helps you understand what options are available if you are diagnosed with the condition or found to be "at risk". Treatment and management choices can include preventing or eradicating the condition or its symptoms, slowing progress of the condition, and maintaining quality of life with the condition.

Rating the question

Rate the question according to whether there is a clear description of treatment and management choices for the condition. This information should be explicit but can be brief, as many publications appraised using DISCERN Genetics will be primarily concerned with testing and diagnosis and a detailed analysis of the quality of the information about treatment choices is beyond the scope of the DISCERN Genetics tool. To fully appraise the quality of the information on treatment choices, please refer to DISCERN Treatment (see for details).

Note that this question is only concerned with the treatment described in the publication. The question cannot be used to assess whether all possible treatment choices for the condition have been described as this would involve checking against other sources.

Guidelines for rating the question:

  • 5: yes - the publication provides a clear description of treatment and management choices for the condition
  • 2 - 4: partially - treatment and management choices are mentioned, but the information is unclear or incomplete
  • 1: no - there is no information on treatment and management choices for the condition.


We have devised simple examples here to demonstrate the quality criterion underlying Question 4. 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 guidance for Question 16

5 Rating:
Example (i) Inherited cancer

A national charity booklet on genetic tests for an inherited form of cancer outlines a "journey" from testing to management which covers the role of various health professionals, packages of care, living with the condition and reproduction issues. The section on care outlines monitoring and care following a positive test result, plus options for treatment if symptoms develop. The role of lifestyle factors in managing disease progress and symptoms is outlined, and information on treatment choices consists of a table summarising the risks and benefits of various drug treatments and surgery. Throughout the publication, readers are guided to resources providing more detailed information on specific treatments and outcomes which are fully listed under References and Further Information.

Partially rating:
Example (ii) Antenatal screening and testing - Cystic Fibrosis

A health authority booklet on screening and testing in pregnancy includes a section on genetic tests for cystic fibrosis. It includes brief descriptions of diagnosis, symptoms and progress of the disease, plus risk statistics and testing issues. Treatment and management information consists of:

At present there is no cure for CF, but symptoms can be reduced through physiotherapy and drug treatments. Research into new treatments is ongoing.

Additional rating notes: There is insufficient detail on treatments, and the process of management and referral following a positive test result and quality of life issues are not mentioned.

Example (iii) Neonatal screening and testing

A maternity hospital leaflet provides information for parents on neonatal screening for a range of conditions (through a blood spot test). Screening is recommended because of the benefits of early detection and treatment of these serious conditions. For each condition, it provides a brief description of its effects, states whether or not it is inherited and describes how the symptoms of each condition are managed, highlighting that treatment is more effective if commenced in infancy. Complications and choices associated with treatments are not mentioned. The possibility that a baby may be found to be a carrier for a condition is also mentioned without any explanation or discussion of any management options. Screening results are described as either indicating your baby is normal, or thought to have a condition which may require further action, but the process of referral is not described, and quality of life issues are not mentioned anywhere in the leaflet.

Additional rating notes: There is insufficient detail on treatments, particularly risks and choices, and the process of management and referral following a positive test result and quality of life issues for affected children and carriers are not mentioned.

1 rating:
Example (iv) Antenatal screening and testing - Down's Syndrome

A popular book on pregnancy and early childhood includes information about antenatal screening and testing for Down's Syndrome. It provides a detailed description of the condition, the screening test and interpretation of results, and the diagnostic tests most commonly used - amniocentesis and chorionic villus sampling. It does not include any information or additional references on management options during pregnancy if Down's Syndrome is detected (such as the process and impact of having a termination or of continuing with a pregnancy), or after giving birth (such as managing the physical and mental health of a child with Down's or any other aspects of living with Down's Syndrome).