Post Test Counseling for CMA

The disclosure of any test result involves navigating informational needs, emotional responses, and decisions about next steps. Counseling about CMA results may be complicated when families are unfamiliar with the types of information they can and cannot get. Providing adequate counseling before testing can pave the way for a smoother discussion of results (see Pre-Test Counseling). However, a final result is likely to bring up new questions and concerns. In this section we provide strategies and resources to address questions and concerns that arise for families when receiving results.

What do families need to know?

Guidelines for disclosing any test result also apply to CMA testing. For example, families usually benefit from a brief review of why the test was performed, what it can and cannot tell you, and how the results can be used. Each type of CMA result also involves unique discussion points. 

What information is critical when discussing negative results? 

  • The test did not identify a cause for the patient’s condition. 
  • A number of specific syndromes have been ruled out, or are now less likely. 
  • The patient could still have a genetic condition that wasn’t detected by CMA. 
  • Other evaluations or genetic tests might be recommended, especially as technology improves in the future. 

What information is critical when discussing a pathogenic variant? 

As with any positive test result, disclosure should include the specific result or diagnosis and its health implications, how the condition will affect the child over time, and the next steps for management. In addition, disclosure of CMA results may involve clarifying: 

  • Whether the change caused the child’s condition, a separate health concern that is unrelated, or both. 
  • Whether the change was inherited from a parent or occurred for the first time in the patient (or a discussion about testing to determine this) and if there is any risk for other family members. 
  • Whether the type and severity of clinical features associated with the condition may vary from person to person. 

What information is critical when discussing a VUS? 

  • The VUS may or may not be related to the patient's condition. 
  • The VUS neither confirms nor rules out a genetic cause for the patient’s condition. 
  • A number of specific syndromes have been ruled out, or are now less likely. 
  • The patient could still have a genetic condition that wasn’t detected by CMA. 
  • Other evaluations or genetic tests might be recommended. 

A VUS may be especially difficult for families to understand and accept. Your counseling should reinforce: 

  • Genetic variation is common and makes each human unique, but we do not always understand the health effects of all genetic variants. 
  • Testing other family members, such as parents, may help us determine the likelihood that the VUS is pathogenic or benign. 
  • We may learn more about the meaning of a VUS in the future. 

See more about variants and classifying VUS

Learn More 

Resource: Read examples of genetic counseling research highlighting pre- and post-test counseling issues in CMA testing. 

Case example: Variant of Unknown Significance (Justin)

How do I educate about results?

What strategies and tools are helpful?

Though the content of results disclosure will differ from your pre-test conversation with families, the strategies and tools you will use are similar. See our section on Pre-Test Counseling for tips on managing time, family-friendly language, and educational tools. In addition, the following strategies may be helpful when discussing specific results.

  • Show the family illustrations of the specific altered chromosome region found in the child
  • Provide an illustration of the normal chromosome region for comparison
  • Show photos of other individuals with the condition, especially those with shared features.

When possible, use naturalistic photos in non-medical settings, rather than clinical and textbook photos. Online family support groups can be a resource for photographs. The not-for-profit organization Positive Exposure has an online gallery of photographs of children with a number of genetic conditions.

  • When available, provide printed information about the diagnosis that the family can review later.
  • When possible, disclose results in person, rather than by telephone.

See more information about the telephone disclosure.

What is the best way to discuss risk?

Post-test counseling may involve discussion of many different types of risk, from inheritance and reproductive risk, to disease risk associated with incidental findings. The following strategies, which are used to describe all types of risk, can improve effectiveness of communication.

  • Use the family medical pedigree or an illustration of a family tree to teach about inheritance risks
  • Avoid subjective terms like ”strong”, “high”, “unlikely” and “rarely”
  • Make comparisons with other more familiar risks, background risks, and pre-test risks.
  • Present risk in both percent (1%) and ratio (1 in 100) to improve comprehension
  • Put risk in perspective by discussing both sides of the number (for example a 25% chance of disease means 75% chance of no disease).
  • Use visuals such as population graphics and charts to illustrate risks.
  • Explain variable expression by reminding families that other factors contribute to a person’s health, including lifestyle, exposures, and other genes.

Where can the family find more information?

Families who search for health information online should always be cautioned to use reputable sites and be wary of extreme examples. It can be especially tricky to find accurate online information about specific copy number variants. While some microdeletions/duplications may be located within the same chromosomal band, they may have little to no overlap between their actual regions and may be associated with very different clinical pictures. When possible, point the family to specific web pages that discuss the child’s exact variant. Instruct the family that web searches should include the specific breakpoints or genomic location of the variant.

Some genetic conditions have their own support groups and provide condition-specific information and resources. Genetic Alliance has a good listing of many support groups for genetic conditions. The following resources may help:

How do I support families?

What kind of family reactions can I expect?

Family responses to genetic diagnoses may be more complex than that for other types of testing. Some families may experience stigma or shame surrounding the concept of genetic or congenital disease or associated findings like autism and intellectual disability. Inherited conditions impact the whole family and may produce feelings of parental guilt.

On the other hand, many families have come to CMA after an exhaustive search for a diagnosis. A pathogenic finding may provide relief and an end to the diagnostic odyssey while a negative result or VUS may be disappointing.

Expect a range of responses even within the same family. Each family member may have their own interpretation of the meaning of the results.

How should I respond to family reactions?

Good listening skills and empathic responses are critical. Try to elicit and acknowledge unique feelings that arise from the genetic nature of a CMA result. Think ahead about the kinds of psychosocial referrals that might be appropriate, and have support resources specific to the diagnosis available to provide to the family.