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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 14

What the question is about and why it is important

A good quality publication will highlight the practical, ethical and emotional impact of genetic testing on relatives and family. This information is important for making an informed choice about testing because it will help you understand what your test could mean for other family members. It can promote mutual support and help family members prepare if you decide to be tested.

Rating the question

Rate the publication according to whether the consequences of genetic testing for the relatives and partner of the person being tested are discussed. This information may be provided at various points throughout the publication, and how high you rate it will depend on your judgement of how well these issues are presented. Topics to consider include the impact of both positive and negative test results such as emotional reactions, relationship stress, the discovery of non-paternity, questions of marriage and family planning, and caring responsibilities. Note that the emotional and social consequences for you are considered separately in Question 13, and that specific issues for shared decision-making about your test are covered by Question 11.

Guidelines for rating the question:

  • 5: yes - the publication provides a clear discussion of the consequences of being tested for relatives and partner
  • 2 – 4: partially - the publication discusses the consequences of being tested for relatives and partner, but the information is unclear or incomplete.
  • 1: no - the publication does not provide any discussion of the consequences of testing for relatives or partner.

Examples

Discussions of consequences of testing for relatives and partners 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 14. 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 hospital genetics department leaflet for patients having a genetic test for an inherited cancer includes the following:

Genetic testing can affect other family members. Your decision about testing and any results you receive will have implications for your partner's life and relationship with you. Test results may also provide important information about the health status of your biological relatives, including your offspring, which in turn could affect the way you interact with each other.

If you receive a positive result for this condition, your relatives may need to be told that they are also at risk, and you will have to decide how this should be done. The clinic will be happy to help you, but if you would prefer to inform them personally, you will need to decide who to tell, and how and when. Reactions and decisions amongst your relatives may be varied. Many will be pleased to have this information because it removes uncertainty and provides them with the opportunity to investigate their own risk and take a test for the disease. Others may be upset and could blame you for depriving them of the right not to know. Your parents and other family may feel guilty that they were unaware they had passed on the condition or did not reveal their own positive result. Your partner may be glad to have this information so that you are both able to act and plan, but may also have concerns about your health and shared circumstances including family planning and financial security. Your children may become worried about their own future, relationships and offspring. You may need to make arrangements for your care if you are diagnosed or start to have symptoms, and those close to you may need to feel involved and prepared. Sensitive information may also be revealed - for example, that someone is adopted or not a child’s biological father. Decisions to terminate pregnancy may also arise, which could reveal strong feelings and conflict amongst those around you.

The consequences for your family are not confined to positive test results. If you receive a negative test result, mixed reactions may arise amongst family members who have had a positive test result or diagnosis. An inconclusive result can also be very stressful, as many practical and emotional issues could remain unresolved and it may be difficult for you and your partner and family to see a way forward.

As you can see, any decision to take a genetic test has implications not only for you but for a number of people in your life. In some cases, existing family tensions and rifts may worsen, although these situations can also bring people closer together. Of course, you are not required to take the test or disclose the results, and the final decision should be yours alone. However, you also need to think about the consequences for your family and partner if you decide not to investigate your risk or pass on information about your health status. Counselling before and after the test should help you and those involved in your decisions to work through all these issues.

Partially rating:
Example (ii) Huntington’s Disease

A popular family health compendium includes the following in a section on Huntington’s Disease:

If you are shown to be at risk due to a strong family history and a positive test result, a wide range of extended family members will be offered testing. It is important that each one is fully counselled before taking the test.

Additional rating notes: There are no further details on how or why the test has an impact on others.

Example (iii) General

An online public health genetics database includes the following in a section on testing:

The genetic test can have an impact on your family, relationships, reproductive decisions and insurance.

Additional rating notes: There are no further details on how or why the test has an impact on others.

1 Rating
Example (iv) Neonatal screening

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. Some of the conditions are described as inherited with no further explanation of how they are passed on, or whether the parents, older children or future pregnancies will also be affected if the test is positive. Screening is described as aiming to detect babies more likely to have these conditions, and results are described as either indicating your baby is normal, or thought to have a condition which may require further action. The possibility that a baby may be found to be a carrier for a condition is also mentioned without any explanation of this term. The leaflet states that screening is strongly recommended because of the benefits of early detection and treatment of these serious conditions. No further detail is provided.

Additional rating notes: There is no discussion of the consequences of neonatal test results for the baby's parents, siblings and other family members.