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General instructions

The questions

The DISCERN Genetics tool consists of 19 key questions plus an overall quality rating. Each of the questions represents a separate quality criterion - a feature or standard that is an important part of good quality information.

The DISCERN Genetics questions are organised in a sequential manner and help you to appraise the information provided by a publication by looking at different aspects as follows:

Question 20 consists of the overall quality rating at the end of the instrument. Your answer to this question should be based on your judgement on the quality of the publication as a source of information on testing or screening for a condition with a genetic cause after rating each of the preceding 19 questions.

The Rating Scale

Each question is rated on a scale ranging from 1 (No) to 5 (Yes). Indicate your answer to each question by circling one point on the scale. The rating scale is designed to help you assess if the quality criterion in each question is present or has been 'fulfilled' by the publication you are rating.

For some publications, Questions 2, 12 and 19 will not be applicable - there is an N/A code for you to use here.

General guidelines are as follows:

The rating process is clear for most questions, although more subjective decisions may occasionally be needed.


A number of hints are given after each question. These are designed to provide you with things to consider when deciding your response to a question. The hints should act as a guide rather than as hard and fast rules and your own judgement will also be important. They should help you to use your judgement effectively.

Question 20 is the overall quality rating at the end of the questionnaire. Your answer to this question should be based on your judgement of the quality of the publication as a source of information about genetic screening and testing after rating each of the preceding 19 questions. We do not provide specific instructions for how to use your judgement to award a rating on question 20, although you should be cautious about giving a high rating to a publication that did not rate well on the majority of DISCERN questions.

Additional Guidance

There is additional guidance for rating each of the DISCERN Genetic questions. The guidance for each question is designed to stand alone so there is no need to refer to other sections or questions in order to understand and apply each criterion effectively.

For each DISCERN Genetics question, we have provided a brief overview which highlights what the question is about and why it is important. We also include guidance for using the 5 point rating scale, plus examples demonstrating Yes (High), Partially (Moderate) and No (Low) ratings. This guidance has been devised using data and feedback from the development and testing of DISCERN Genetics and from reviews of a wide range of patient literature. We have provided examples that cover a range of genetic conditions and information formats to demonstrate how the DISCERN Genetics criteria can be applied in a variety of situations.

The information scenarios created in the Handbook examples include the genetic conditions listed below. Detailed medical and technical information about the conditions and tests is not provided - please refer to the references and the resources.

The examples have been highly simplified for the purposes of demonstration. Text presented in italics is meant to be read as if it were taken verbatim from a publication, and non-italic text is descriptive. The publications described are fictitious: although modelled on real publications, the information provided in the examples has been fabricated and examples are not linked across questions. A few exceptions are clearly specified. The examples occasionally refer to healthcare practice in the UK where DISCERN was developed, but the concepts are universal and the tool and handbook are designed to be used in an international setting.


The technical terms used throughout the tool and handbook are defined in the Part 1 and the Glossary (Part 7). In addition, there are some more general terms which we need to define:

Throughout the tool and handbook, a publication is any information about genetic screening and testing that is available to the public.

The term evidence-based is used to refer to healthcare information and practice that is based on the best current research.

Go to the questionnaire