Genetic Counseling: Who to Refer and What They Should Expect
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. Relate the key elements of the genetic counseling encounter 2. Recall when genetic counseling should be considered
Estimated time to complete activity: 0.25 hours
Susan J. Gross, MD, FRCSC, FACOG, FACMG
President and CEO, The 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: Susan J. Gross, MD, receives consulting fees from Cradle Genomics, and has financial interest in The ObG Project, Inc.
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.
A referral to genetic counseling should be considered in a variety of clinical scenarios, and can be made regardless of whether or not genetic testing is available for the suspected condition. It is helpful to emphasize that a genetic counseling referral is an opportunity to better understand the clinical picture that will help guide current and future management.
Key Factors About Genetic Counseling
It is a process, and may require one or more consultations depending on the indication for referral and availability of genetic testing and need to schedule results disclosure sessions
A typical encounter will involve review of the following information and concepts
Family and medical histories | Mode of inheritance | Typical natural progression of the condition | Differential diagnoses | Occurrence and/or recurrence risks | Genetic or other testing options | Management, prevention and screening options | Education resources | Possible clinical research opportunities
Referrals for genetic counseling should be considered in situations such as
A personal and/or family history of certain conditions that seem to occur more frequently than expected
Disorders that may be relatively common, but diagnosed at younger ages than expected for the condition
This may include (but is not limited to) diagnoses of cancer, cardiac disease, neurological or endocrine diseases
Women with a history of
Infertility | Recurrent pregnancy loss | Pregnancy with an increased risk for a congenital anomaly or a genetic syndrome
Referral to genetic counseling can be an important aspect in the overall medical management of a patient, and their family or future offspring. Genetic counseling may or may not involve options for genetic testing, but will likely provide important information about a patient’s level of risk for the indication that prompted the referral. The aim of genetic counseling is to provide enough information to allow for informed decisions.
The goal of genetic counseling is to help individuals and families better understand their risk for a particular medical condition so that they are informed
Both healthcare professionals and their patients can be better advocates if armed with knowledge
It is helpful if the referral includes as much relevant background information and clinical reports as possible
Encourage your patient to collect as much family history as they can about medical diagnoses in the family, ages of onset and ages of death, if applicable
Family photographs can also be helpful in some circumstances
Be mindful of timely referrals if decisions regarding a pregnancy, surgical or other treatments will depend on the genetics evaluation
Prepare your patient for the possibility that there will not always be a definitive answer possible, or a genetic test that will confirm or rule out a diagnosis
Understand that genetic counseling is typically non-directive, with the goal of educating the patient to make an informed decision based upon their circumstances, and patient decisions may not always be what was expected at the time of referral
Communicate directly with the genetic counseling provider if needed, to best understand the outcome and interpretation of genetic testing, if performed
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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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