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Discern Genetics Quality Criteria

Question 9

Does the information explain what happens after the test?

Hint: Look for:

  • an explanation of follow up procedures
  • a description of who gives the results
  • a description of how the results are received

Guidance for question 9

What the question is about and why it is important

A good quality publication will describe the procedure following testing. Information about what happens after testing is important when deciding whether to be tested, as it helps you understand how the test results are handled and can prepare you for any further action that may be required.

Rating the question

Rate the question according to whether it provides clear information about what happens after the test. Topics that should be covered include how you obtain your results (whether you are contacted or have to chase them up), how they are given (by phone, letter, in person) and whether this procedure differs for positive and negative results. This information should also mention the possibility of further testing (giving reasons outlined in Question 6) and describe the process for notifying other family members (although full implications of a positive result are dealt with more fully in Question 14). Note that the question does not recommend a standard procedure for providing test results, but counselling before taking the test and when receiving positive test results are considered best practice.

Guidelines for rating the question:

  • 5: yes -the publication provides clear information about what happens after the test
  • 2 - 4: partially - the publication provides information about what happens after the test, but the information is unclear or incomplete
  • 1:no - there is no information about what happens after the test

Examples

We have devised simple examples here to demonstrate the quality criterion underlying Question 9. 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.

5 Rating:
Example (i) Inherited cancer

A national cancer charity website provides the following information in a section on testing:

The tests are complicated, and interpretation of their results can be difficult, so testing is only available at specialist clinics. The results can have enormous implications for you and your family, and expert advice and support from your family doctor or a counsellor at the clinic before and after taking the test is a vital part of the test procedure.

When the test results are available, they will be sent to your doctor or counsellor who will contact you in writing to offer an appointment. The results will be discussed during this appointment - they are never posted out or given over the telephone. If the result is positive, your doctor or counsellor will discuss a care plan and referral for specialist treatment with you. They will also give you a leaflet to pass on to family members which will help you explain your test result and issues they may want to consider regarding testing. If your result is negative, you may still be at risk of developing the condition as the test is not particularly sensitive to all possible mutations (as outlined in an earlier section on test procedure and accuracy) and a plan for monitoring and future testing will be discussed.

Example (ii) Antenatal screening -Down's Syndrome

A government health department leaflet distributed to all pregnant women contains the following information on the antenatal screening procedure for Down's Syndrome (after a section on the test procedure and the meaning of positive and negative results and test accuracy).

Screening test results are normally available within 2 weeks of the test procedure. If your results are negative, your baby is unlikely to be at risk of Down's Syndrome and further testing is not recommended. If a midwife does not contact you within two weeks of taking the test, you can assume that you have a negative result. However, you are welcome to contact the midwife at any time if you have any concerns.

If your screening test results are positive, your midwife will contact you by telephone within two weeks after the test to give you your results and to offer you further information and an appointment for counselling. You should make sure that the telephone number you have provided will reach you at a time and place where you feel comfortable taking this call. The midwife will not leave messages. At the followup appointment, your midwife will discuss the meaning of the screening test result and will explore your options with you, including further diagnostic testing to confirm or reject the screening result (outlined elsewhere in the leaflet).

In all cases, your results will be filed with your patient record and will only be routinely accessible to you, your family doctor and midwife. They will contact you if they feel there is a need to share this information with any other professionals involved in your care, and all your decisions and preferences will be respected by your healthcare team and noted in your record.

Example (iii) General

A flyer provided by a private clinic offering genetic testing includes the following:

We will give you a phone number to call to find out when your results are ready for collection and to book an appointment with the counsellor who will give them to you. Receiving your test result can be an emotional and stressful time, regardless of whether they are positive or negative. Think carefully about timing this appointment. You may need to make sure you have people around to support you, and it is advisable to avoid doing it when you are in the middle of other stressful events. You may also change your mind, and after issuing one reminder, we will not pursue you if you do not keep your appointment to collect your results. However, they will be stored safely and you will be able to collect them at a future date.

Partially rating:
Example (iv) Inherited cancer

A commercial online health encyclopedia provides the following information about a genetic test for people at risk of an inherited cancer. It states:

The test is technically difficult and it takes a long time for results to become available (up to 2 years at present).

There is no mention of support in the meantime or how results are collected. Options following a positive result are outlined:

You can talk with your doctor about the options available to you. Some people with an inherited mutation may consider prophylactic surgery, and various studies are underway into possible drug treatments that may prevent the disease.

It mentions that close relatives can be informed of their risk and offered counselling, screening and genetic testing although how this is done and by whom is not described.

Additional rating notes: Procedures following testing are unclear because the information is very general and non-specific.

Example (v) An antenatal testing example - Down's Syndrome

A Web page developed by a local women's health action group provides information for pregnant women. A section on diagnostic tests states that:

Results for both tests are usually available within a week or two, although we recommend counselling before collecting the result.

Additional rating notes: There are no details of where or how the results and counselling services are provided.

Example (vi) General

A hospital genetics department handout includes the following information:

The testing can be done on a blood or tissue sample, and usually takes between 2 to 4 weeks for results.

The section immediately following deals with the impact of results.

Additional rating notes: There are no details of where, how or by whom the results are delivered.

1 Rating:
Example (vii) 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. 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. No further information about the test or results is provided.

Additional rating notes: there is no information about when, where, how or by whom the results are delivered. Further action is mentioned but there is no indication as to what this would be.