Cascade Testing: Notifying and Counseling Relatives of Individuals who are BRCA Mutation Carriers
Learning Objectives and CME/Disclosure Information
This activity is intended for healthcare providers delivering care to women and their families.
After completing this activity, the participant should be better able to:
1. Recall the definition of genetic cascade testing 2. Counsel patients regarding the important of communicating with relatives about cascade testing
Estimated time to complete activity: 0.25 hours
Ashley Comfort, MD, FACOG is the Director of Medical Content, ObG Project.
Disclosure of Conflicts of Interest
Postgraduate Institute for Medicine (PIM) requires faculty, planners, and others in control of educational content to disclose all their financial relationships with ineligible companies. All identified conflicts of interest (COI) are thoroughly vetted and mitigated according to PIM policy. PIM is committed to providing its learners with high quality accredited continuing education activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of an ineligible company.
The PIM planners and others have nothing to disclose. The OBG Project planners and others have nothing to disclose.
Faculty: Ashley Comfort, MD, has a financial interest in Pfizer and has no other conflicts of interest to disclose.
Planners and Managers: The PIM planners and managers, Trace Hutchison, PharmD, Samantha Mattiucci, PharmD, CHCP, Judi Smelker-Mitchek, MBA, MSN, RN, and Jan Schultz, MSN, RN, CHCP have nothing to disclose.
Method of Participation and Request for Credit
Fees for participating and receiving CME credit for this activity are as posted on The ObG Project website. During the period from Dec 31 2017 through Jan 25 2023, participants must read the learning objectives and faculty disclosures and study the educational activity.
If you wish to receive acknowledgment for completing this activity, please complete the post-test and evaluation. Upon registering and successfully completing the post-test with a score of 100% and the activity evaluation, your certificate will be made available immediately.
For Pharmacists: Upon successfully completing the post-test with a score of 100% and the activity evaluation form, transcript information will be sent to the NABP CPE Monitor Service within 4 weeks.
Joint Accreditation Statement
In support of improving patient care, this activity has been planned and implemented by the Postgraduate Institute for Medicine and The ObG Project. Postgraduate Institute for Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physician Continuing Medical Education
Postgraduate Institute for Medicine designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Continuing Nursing Education
The maximum number of hours awarded for this Continuing Nursing Education activity is 0.2 contact hours.
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 (see ‘Related ObG Topics’ below for summaries). 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
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.
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
OBG Project CME requires a modern web browser (Internet Explorer 10+, Mozilla Firefox, Apple Safari, Google Chrome, Microsoft Edge). Certain educational activities may require additional software to view multimedia, presentation, or printable versions of their content. These activities will be marked as such and will provide links to the required software. That software may be: Adobe Flash, Apple QuickTime, Adobe Acrobat, Microsoft PowerPoint, Windows Media Player, or Real Networks Real One Player.
Disclosure of Unlabeled Use
This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications.
The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.
Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information
presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.
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