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The Genome
CMECNE

Genetic Counseling: Who to Refer and What They Should Expect

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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

Faculty:

Susan J. Gross, MD, FRCSC, FACOG, FACMG
President and CEO, The ObG Project

Disclosure of Conflicts of Interest

Postgraduate Institute for Medicine (PIM) requires instructors, planners, managers and other individuals who are in a position to control the content of this activity to disclose any real or apparent conflict of interest (COI) they may have as related to the content of this activity. All identified COI are thoroughly vetted and resolved according to PIM policy. PIM is committed to providing its learners with high quality CME activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of a commercial interest.

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 Dec 31 2021, 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.

Read Disclaimer & Fine Print

CLINICAL ACTIONS:

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

SYNOPSIS:

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.

KEY POINTS:

  • 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

Locate a Genetic Counselor or Genetics services:

Genetic Services Locator-ACMG

Genetic Services Locator-NSGC

Genetic Services Locator-CAGC

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Computer System Requirements

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.

Disclaimer

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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