Genetic Screening and Counseling, An Issue of Obstetrics and Gynecology Clinics

Joe Leigh Simpson, Anthony R. Gregg

Description

Genetic Screening and Counseling is reviewed in this issue of Obstetrics and Gynecology Clinics, guest edited by Drs. Anthony R. Gregg and Joe Leigh Simpson. Authorities in the field have come together to pen articles on Contemporary Genetics Counseling: New Frontiers and Challenges, Newborn Screening, SMA Carrier Screening, Fragile X, Ashkenazi Jewish Screening in the 21st Century, Thrombophilia in Obstetric Practice, Microarrays in the Practice of Obstetrics and Gynecology, Cancer Genetic Screening, and Cystic Fibrosis.

Sujets

• Médecine
• Gynécologie et Obstétrique
• Gynecology
• Medical
• Obstetrics

Informations

• Publié par: Saunders
• Date de parution: 21 juin 2010
• Nombre de lectures: 0
• EAN13: 9781455700479
• Langue: English
• Poids de l'ouvrage: 1 Mo

Extrait

Obstetrics and Gynecology Clinics of North America
Genetic Screening and Counseling
Anthony R. Gregg, MD
Division of Maternal Fetal Medicine, Clinical Genetics and Molecular Medicine, Department of Obstetrics and Gynecology, University of South Carolina School of Medicine, Two Medical Park, Suite 208, Columbia, SC 29203, USA
Joe Leigh Simpson, MD
Department of Human & Molecular Genetics and Department of Obstetrics and Gynecology, College of Medicine, Florida International University, 11200 SW 8th Street, HLS 693, Miami, FL 33199, USA
CONSULTING EDITOR William F. Rayburn, MD, MBA
ISSN  0889-8545
Volume 37 • Number 1 • March 2010

Contents
Cover
CME Accreditation Page and Author Disclosure
Contributor List
Table of Contents
Forthcoming Issues
Foreword
Preface
Contemporary Genetic Counseling
Newborn Screening for Treatable Genetic Conditions: Past, Present and Future
Spinal Muscular Atrophy: Newborn and Carrier Screening
Ashkenazi Jewish Screening in the Twenty-first Century
Carrier Screening for Cystic Fibrosis
Prenatal Carrier Testing for Fragile X: Counseling Issues and Challenges
Applications of Array Comparative Genomic Hybridization in Obstetrics
Screening, Testing, or Personalized Medicine: Where do Inherited Thrombophilias Fit Best?
Hereditary Breast and Ovarian Cancer (HBOC): Clinical Features and Counseling for BRCA1 and BRCA2, Lynch Syndrome, Cowden Syndrome, and Li-Fraumeni Syndrome
Erratum
Index
Obstetrics and Gynecology Clinics of North America , Vol. 37, No. 1, March 2010
ISSN: 0889-8545
doi: 10.1016/j.ogc.2010.04.004

CME Accreditation Page and Author Disclosure

Goal Statement
The goal of Obstetrics and Gynecology Clinics of North America is to keep practicing physicians up to date with current clinical practice in OB/GYN by providing timely articles reviewing the state of the art in patient care.

Accreditation
The Obstetrics and Gynecology Clinics of North America is planned and implemented in accordance with the Essential Areas and Policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the University of Virginia School of Medicine and Elsevier. The University of Virginia School of Medicine is accredited by the ACCME to provide continuing medical education for physicians.
The University of Virginia School of Medicine designates this educational activity for a maximum of 15 AMA PRA Category 1 Credits™ for each issue, 60 credits per year. Physicians should only claim credit commensurate with the extent of their participation in the activity.
The American Medical Association has determined that physicians not licensed in the US who participate in this CME activity are eligible for a maximum of 15 AMA PRA Category 1 Credits™ for each issue, 60 credits per year.
Category 1 credit can be earned by reading the text material, taking the CME examination online at http://www.theclinics.com/home/cme , and completing the evaluation. After taking the test, you will be required to review any and all incorrect answers. Following completion of the test and evaluation, your credit will be awarded and you may print your certificate.

Faculty Disclosure/Conflict Of Interest
The University of Virginia School of Medicine, as an ACCME accredited provider, endorses and strives to comply with the Accreditation Council for Continuing Medical Education (ACCME) Standards of Commercial Support, Commonwealth of Virginia statutes, University of Virginia policies and procedures, and associated federal and private regulations and guidelines on the need for disclosure and monitoring of proprietary and financial interests that may affect the scientific integrity and balance of content delivered in continuing medical education activities under our auspices.
The University of Virginia School of Medicine requires that all CME activities accredited through this institution be developed independently and be scientifically rigorous, balanced and objective in the presentation/discussion of its content, theories and practices.
All authors/editors participating in an accredited CME activity are expected to disclose to the readers relevant financial relationships with commercial entities occurring within the past 12 months (such as grants or research support, employee, consultant, stock holder, member of speakers bureau, etc.). The University of Virginia School of Medicine will employ appropriate mechanisms to resolve potential conflicts of interest to maintain the standards of fair and balanced education to the reader. Questions about specific strategies can be directed to the Office of Continuing Medical Education, University of Virginia School of Medicine, Charlottesville, Virginia.
The faculty and staff of the University of Virginia Office of Continuing Medical Education have no financial affiliations to disclose.
The authors/editors listed below have identified no professional or financial affiliations for themselves or their spouse/partner: Jeffrey S. Dungan, MD; Janice G. Edwards, MS, CGC; Gary Fruhman, MD; Nancy S. Green, MD; Susan Hiraki, MS; Carla Holloway (Acquisitions Editor); William Irvin, MD (Test Author); Susan Klugman, MD; Krista B. Moyer, MGC; Thomas W. Prior, PhD; and Ignatia B. Van den Veyver, MD.
The authors/editors listed below identified the following professional or financial affiliations for themselves or their spouse/partner:
Anthony R. Gregg, MD (Guest Editor) is on the Advisory Committee/Board for Novartis Diagnostics.
Susan J. Gross, MD is an industry funded research/investigator for PerkinElmer Inc., is an industry funded research/investigator and consultant for Luminex Molecular Diagnostics Inc., has an educational grant from Genzyme, and has a patent pending with Einstein Medical School.
Thomas J. Musci, MD is a consultant for DNA Direct, and is employed by Novartis Diagnostics.
William F. Rayburn, MD, MBA (Consulting Editor) is an industry funded research/investigator and a consultant for Cytokine PharmaSciences.
Lee P. Shulman, MD is an industry funded research/investigator for Bayer; is on the Advisory Committee/Board for Bayer, Ortho, and Schering-Plough; and is employed by GSK, Sanofi Pasteur, Merck, Bayer, Ortho, and Schering-Plough.
Joe Leigh Simpson, MD (Guest Editor) is on the Advisory Committee/Board for Bayer Healthcare and Biox Dx, and owns stock in Biocept.
Peggy Walker, MS owns stock in Genzyme Corp and 3M.
Disclosure of Discussion of non-FDA approved uses for pharmaceutical products and/or medical devices:
The University of Virginia School of Medicine, as an ACCME provider, requires that all faculty presenters identify and disclose any off-label uses for pharmaceutical and medical device products. The University of Virginia School of Medicine recommends that each physician fully review all the available data on new products or procedures prior to clinical use.

To Enroll
To enroll in the Obstetrics and Gynecology Clinics of North America Continuing Medical Education program, call customer service at 1-800-654-2452 or visit us online at www.theclinics.com/home/cme . The CME program is available to subscribers for an additional fee of $195.00
Obstetrics and Gynecology Clinics of North America , Vol. 37, No. 1, March 2010
ISSN: 0889-8545
doi: 10.1016/S0889-8545(10)00035-5

Contributor List
Obstetrics and Gynecology Clinics of North America , Vol. 37, No. 1, March 2010
ISSN: 0889-8545
doi: 10.1016/S0889-8545(10)00036-7

Table of Contents
Obstetrics and Gynecology Clinics of North America , Vol. 37, No. 1, March 2010
ISSN: 0889-8545
doi: 10.1016/S0889-8545(10)00037-9

Forthcoming Issues
Obstetrics and Gynecology Clinics of North America , Vol. 37, No. 1, March 2010
ISSN: 0889-8545
doi: 10.1016/j.ogc.2010.04.002

Foreword

William F. Rayburn, MD, MBA
Department of Obstetrics and Gynecology, University of New Mexico School of Medicine, MSC10 5580, 1 University of New Mexico, Albuquerque, NM 87131-0001, USA
E-mail address: [e-mail]


William F. Rayburn, MD, MBA, Consulting Editor
This issue, edited by Anthony Gregg, MD, and Joe Leigh Simpson, MD, is a much needed update of the 2002 issue pertaining to genetic screening and counseling for obstetrician-gynecologists. The purpose of this issue is to assist obstetrician-gynecologists in understanding and applying the concepts of molecular genetics to clinical practice, research, and the provision of health care in the community. In conjunction with genetics counselors, this issue reviews the basics of contemporary prenatal counseling. This issue of Obstetrics and Gynecology Clinics on genetics contains all of the current topics of active clinical relevance.
Human genetics and molecular testing are playing an increasing role in obstetric and gynecologic practice. As the practice of medicine evolves, so too does screening for potentially treatable genetics conditions. It is essential that obstetrician-gynecologists be aware of the advances in understanding of genetic disease and the fundamental principles of evolving technologies, molecular testing, and genetic screening.
As described in this issue, the “genomics era” of gene identification, characterization of disease-causing mutations, and advances in genetic technology have led to an increased number of available tests for the diagnosis of genetic disorders (eg, cystic fibrosis, fragile X syndrome, spinal muscular atrophy, inherited thrombophilias, and disorders in Ashkenazi Jews), carrier detection, and prenatal or preimplantation genetic diagnosis. Testing for a specific genetic disorder often occurs in an obstetric setting based on family history, a couple's ethnicity, or a past fetal condition.
In addition to prenatal diagnoses, this issue focuses on counseling for hereditary breast and ovarian cancer. An estimated 5% to 7% of all breast and ovarian cancer is attributed to inherited mut