Cascade Testing: Notifying and Counseling Relatives of Individuals who are BRCA Mutation Carriers
CLINICAL ACTIONS:
Cascade testing is the process of identifying blood relatives of an individual with a potentially disease-causing mutation in genes such as BRCA1 or BRCA2. Relatives may have inherited the same mutation and may also be at risk. Cascade testing is an efficient way of finding individuals who would benefit from counseling and genetic testing, if they so choose. If you have a patient who has received a report indicating that they are a carrier of a such a pathogenic variant, consider the following
- Ensure the patient herself has obtained appropriate care and counseling
- ACOG recommends that if a provider does not have the necessary genetic expertise, a referral should be made to genetic services and possibly medical and/or gynecologic oncologists
- Any outreach to relatives of a patient should not come directly from the healthcare team without patient permission
- Direct communication of your patient’s health information to a relative without permission may be in violation of HIPAA and/or state laws (see ‘Related ObG Topics’ below for more information)
- Patients should be made aware that their findings may have significant consequences for other family members
- ACOG states that tested patients “should be informed that they have a duty to notify relatives of the familial risk”
- Be aware of potential barriers to family outreach by the patient including
- The patient may be still be processing and making her own personal choices
- There may be important family dynamics that need to be taken in to account
- There may be logistical challenges such as knowing the location of family members
- Financial concerns may delay or obstruct communication between patient and family due to worries regarding test reimbursement and medical costs
SYNOPSIS:
When someone has been identified as a carrier for a pathogenic mutation, there may be serious ramifications for blood relatives. Cascade testing has been shown to be a cost-effective and efficient way to identify other family members who may be at risk and make them aware of lifesaving options. HBOC and Lynch syndrome have been identified by the CDC as high priority syndromes for cascade testing. There are other genetic syndromes such as Familial Hypercholesterolemia where interventions can be lifesaving and cascade testing may be helpful to family members.
KEY POINTS:
Provide Support and Resources
- Ensure patients have direct lines of communication to genetic counseling services if relatives, following notification, do want more information
- Be aware of any ongoing state and professional programs that provide educational resources regarding genetic disorders, especially heritable cancer syndromes
- ACOG provides a template for a letter that a provider can use to reach out to a family member following patient discussion/approval (see ACOG Committee Opinion in ‘Learn More – Primary Sources’ below)
- Key highlights of relative communication include the following
- Inform the family member as to the gene involved and the potential disorder
- Explain that having a mutation does not necessarily always result in disease but it does mean that an individual who carries this variant is at higher risk
- If providing overall lifetime risks for carriers, clarify that these are population based numbers and genetic counseling is required to personalize these risk figures
- Apprise the family member that she may be a risk of having inherited this pathogenic mutation as well
- In the case of autosomal dominant heritable cancer syndromes, that risk will be 50%
- Clarify that aside from yourself, there are options including speaking to their own personal physician, a genetic counselor or other providers who may be of assistance
- Good care requires a multi-disciplinary approach
- Be prepared to share information about potential costs involved in genetic testing
Learn More – Primary Sources:
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