Genetic Carrier Screening in Ashkenazi Jewish Patients
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. Recognize the minimum number of disorders that are currently recommended by ACOG for prenatal carrier screening in individuals of Ashkenazi Jewish heritage 2. Counsel patients who are found to be carriers for autosomal recessive disorders
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.
Offering carrier screening for various autosomal recessive conditions to patients of Ashkenazi Jewish or Central/Eastern European Jewish heritage has been a longstanding recommendation from ACOG and ACMG.
ACOG guidelines recommend, at a minimum, screening for the following disorders when offering genetic testing to those of Ashkenazi Jewish background
Tay Sachs Disease (1/30 carrier frequency)
Serum analysis in non-pregnant female, not taking oral contraceptives
Leukocyte analysis in pregnant female or female patient taking oral contraceptives
Cystic Fibrosis (1/29 carrier frequency)
Canavan disease (1/40 carrier frequency)
Familial Dysautonomia (1/32 carrier frequency)
ACOG has now included the following disorders where screening ‘should be considered’
Mucolipidosis IV (1/127 carrier frequency)
Niemann-Pick disease type A (1/90 carrier frequency)
Fanconi anemia group C (1/90 carrier frequency)
Bloom syndrome (1/100 carrier frequency)
Gaucher disease type I (1/15 carrier frequency)
Familial hyperinsulinism (1/68 carrier frequency)
Glycogen storage disease type 1 (1/64 carrier frequency)
Joubert Syndrome (1/110 carrier frequency)
Maple syrup urine disease (1/97 carrier frequency)
Usher Syndrome (type 1F: 1/147 | type III; 1/120)
Additional Clinical Considerations
Simultaneous testing of both partners can be considered if the patient is pregnant and timing is a concern
If the patient is pregnant and only one member of the couple is Ashkenazi Jewish, it is best to test that individual first, if possible
One Jewish grandparent is sufficient for testing
If patient is unsure of background, always offer testing
Even if a patient reports being screening previously, without documentation, she needs to be screened again
A positive family history may not always be present for autosomal recessive conditions, even when there is a high carrier frequency in the Ashkenazi population. Therefore, carrier screening should be offered to those who identify as having Eastern European Jewish/Ashkenazi ancestry. Guidelines have tended toward genetic screening for conditions that have a high carrier frequency in this population. However, due to technological advances, more disorders have been added to genetic screening panels and while some diseases have relatively high carrier rates, others may be less frequent but are considered severe conditions.
Informed consent for genetic testing at a minimum should include
A general description of the disorders
Some of these disorders may not always be severe
For example, cystic fibrosis can have relatively mild signs and symptoms
Residual risk for a disorder exists even if both partners have a negative carrier screening result, although less risk than prior to testing
A carrier of an autosomal recessive disorder is healthy but has a risk of passing the mutation to her offspring
Genetic counseling should be available for anyone who requests further information
When both partners are identified as carriers, there is a 25% chance that the fetus is carrying both mutations
Prenatal diagnosis with amniocentesis or chorionic villus sampling should be offered
Preimplantation Genetic Diagnosis (PGD) could be considered in couples when both are carriers for the same condition
Encourage patient to inform family members when they are confirmed carriers for any of the conditions for which they were tested
Testing for those of Jewish but non-Ashkenazi heritage
There are no guidelines specifically for Jews of Sephardic (descending from the Iberian/Spanish peninsula) or Mizrahi (Middle East, North Africa, Central Asia) heritage
Genetic testing panels that are comprehensive for Jewish individuals, regardless of area of origin, are now available and include over 90 disorders but most of these do not appear in the recommended ACOG list at this time
SMA variant in the Ashkenazi Jewish population
ACOG recommends that all women who are pregnant or considering pregnancy should be offered screening for SMA (see ‘Related ObG Topics’ below)
There are variants that tracks with silent carriers (i.e., found on chromosomes with duplications and not single-copy alleles) that can be incorporated into clinical carrier screening tests to improve residual risk estimates across all populations
Testing for one of these variants is available commercially in many laboratories and is especially effective in the Ashkenazi Jewish population to identify silent carriers
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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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