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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 13

What the question is about and why it is important

A good quality publication will alert you to the emotional, psychological and social impact that genetic testing may have on you. This information is important for making an informed choice about testing because it highlights personal issues and emotions you may experience before, during and after testing. These can include anxiety about being tested and when waiting for results, and reactions such as guilt, anger and relief following both positive and negative results. Positive test results may also have an important impact on life decisions such as your career and your plans for a family. The decision not to be tested or inaccurate and inconclusive test results may also mean you have to deal with uncertainty about your health status, perhaps indefinitely. Throughout this process, your relationships may be affected and day to day life may be difficult. Information about these issues will help you understand the consequences of investigating your risk for a genetic condition and will help you prepare if you decide to have a genetic test.

Rating the question

Rate the publication according to whether the psychosocial consequences of testing for the condition are acknowledged. How high you rate it will depend on your judgement of how well these issues are presented. Topics to consider include your experiences and emotions when deciding whether to be tested and when waiting for results, and possible reactions to both positive and negative test results and any uncertainty arising from the testing process. It should also provide some reassurance that such reactions are normal and that seeking support may be beneficial. Note that the consequences for your partner and family are considered separately in Question 14.

Guidelines for rating the question:

  • 5: yes - the publication provides a clear acknowledgement of the psychosocial consequences of being tested for the condition.
  • 2 - 4: partially - the publication acknowledges the psychosocial consequences of being tested for the condition, but the information is unclear or incomplete.
  • 1: no - the publication does not provide any acknowledgement of the psychosocial consequences of testing.

Examples

Discussions of psychosocial consequences may occur at various points throughout a publication. The following are simple examples where information has been organised within a single section of the publication to demonstrate the quality criterion underlying Question 13. 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.

5 Rating:
Example (i) Huntington's Disease

An international charity website provides the following information on the consequences of testing:

Deciding about testing

Knowing you may be at risk can be very worrying. You may feel you would prefer to know for certain whether or not you have the faulty gene, and many people feel a sense of relief once they have decided to be tested. However, the process of being tested and dealing with the results can also be very worrying and disruptive. It can be helpful to have support from a loved one, but involving them may also make you feel guilty or anxious - particularly if they put pressure on you (often unintentionally) to make decisions that you are not comfortable with.

Testing should only take place when the time is right for you. If you can’t deal with a decision or testing now, it can be helpful to delay it until after a specific date or event in the future. This can help you keep the test in perspective and will give you time to prepare. Some people decide they do not want to be tested or reveal their results, but they also plan to review their decision on a regular basis. Knowing that you can change your mind in future can make such decisions and their consequences less stressful.

If you decide to be tested, each test outcome is associated with a range of reactions that can vary from person to person. Here are some examples:

Positive test results

People react in different ways when results confirm they have inherited the mutation for or have a definite diagnosis of Huntington’s Disease. Negative emotions such as anger, disbelief, guilt and anxiety, are all normal reactions. It is very common to feel regret about not knowing sooner or about passing on the gene. It can also be stressful knowing you are at risk or have a condition which may not be cured, and you may feel anxious not knowing when symptoms will develop or how they will progress. Your relationships may change and you may face difficult decisions about who to tell, whether to get married or have a family, and what career choices are open to you. Joining a support group or having regular meetings with a genetics counsellor can help. Remember that there can be benefits to receiving a positive result, such as a loss of uncertainty, early prevention and treatment of symptoms, job reclassification or financial aide. Most people eventually come to terms with their results and use the information to help them make plans for the future.

Negative result:

Most people feel happy and relieved when they receive a negative test result but some negative emotions are also common. You may feel guilty about affected family members and concern for their care. You may feel emotionally drained or annoyed that you were so anxious and preoccupied about the test. It may be hard to get back into daily life. If you have symptoms of the condition, a negative result may raise questions about the accuracy of the result and the need for further testing. Most people find these issues improve with time, and your counsellor, healthcare team and family can help you work through any difficulties.

Inconclusive results:

Testing may not provide any clear answers and you may have to live with uncertainty. This can be extremely frustrating, and you may feel that the emotional and time-consuming testing process has been pointless. Counselling and support is available which can help you deal with this outcome.

Example (ii) Antenatal testing for Down's Syndrome

An article in a parent and baby magazine provides the following information about the consequences of antenatal diagnostic tests for Down’s Syndrome:

Amniocentesis is a reliable and widely used diagnostic test to confirm a positive screening test result for Downs’ syndrome. However, it can be an anxiety-provoking process and you will face some difficult decisions which you need to be aware of before you are tested. The test may provide useful information about your baby but is also associated with a small risk of miscarriage. A positive test result means you will have to decide whether to terminate a well-advanced pregnancy or whether to give birth to a baby with Down’s Syndrome without knowing how severely disabled they will be.

You are likely to have a range of reactions during this process. The choices may seem impossible and overwhelming, and you may feel anxious about the impact of your decisions on the rest of your family. Relationships can become strained, particularly if those close to you have differing views about how to proceed. If you receive a positive result, you may feel angry and your religious or moral beliefs may be challenged by the decisions you face. You may feel grief that your plans for a family have been let down. You may be fearful about future pregnancies or worried about your ability to raise a child with Down’s syndrome. If you receive a negative result, you may feel relieved but sad for women whose babies are affected, or you may not necessarily feel reassured that your baby is all right.

All these reactions are entirely normal and your healthcare team should be able to offer support and advice. You may also benefit from learning more about the procedure or the experiences of other women – we include a list of organisations and publications at the end of this article which may also be helpful.

Partially rating:
Example (iii) General

Genetic testing can raise anxiety and disrupt family dynamics.

Additional rating notes: There are no further details on why or how genetic testing has these effects.

Example (iv) General

Deciding to be tested can be stressful and the results can have a strong impact, even when they are negative.

Additional rating notes: There are no further details on why or how genetic testing has these effects.

1 Rating:
Example (v) Inherited muscle disorder

The website of a commercial genetic testing company provides details of a test for an inherited muscle disease. The site gives a comprehensive description of the genetic test and procedure, including the underlying mutation, test accuracy and waiting time for results. However, there is no mention of the personal consequences of being tested.