Literature DB >> 31651385

Should Clinicians Leave "Expanded" Carrier Screening Decisions to Patients?

Amanda Fakih1, Kayte Spector-Bagdady2.   

Abstract

Many patients choose to undergo some type of carrier screening when pregnant or planning to become pregnant. "Expanded" carrier screening products test all patients for the same conditions, regardless of family history, race, or ethnicity. Proponents of expanded screening argue that testing everyone for everything can identify more couples at risk of having an affected fetus. However, most conditions on expanded carrier screening panels do not adhere to criteria recommended by professional organizations and can leave patients with a positive test result but little helpful information about actual clinical risk for their future baby. Confusion persists about whether clinicians should leave carrier screening decisions to patients.
© 2019 American Medical Association. All Rights Reserved.

Entities:  

Year:  2019        PMID: 31651385      PMCID: PMC6988386          DOI: 10.1001/amajethics.2019.858

Source DB:  PubMed          Journal:  AMA J Ethics


  20 in total

1.  Expanded carrier screening panels-does bigger mean better?

Authors:  Sara Wienke; Kimberly Brown; Meagan Farmer; Charlie Strange
Journal:  J Community Genet       Date:  2013-09-24

2.  Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.

Authors:  Janice G Edwards; Gerald Feldman; James Goldberg; Anthony R Gregg; Mary E Norton; Nancy C Rose; Adele Schneider; Katie Stoll; Ronald Wapner; Michael S Watson
Journal:  Obstet Gynecol       Date:  2015-03       Impact factor: 7.661

3.  Expanded Carrier Screening: A Rational Approach to Screening for Rare Diseases.

Authors:  Mary E Norton
Journal:  Obstet Gynecol       Date:  2017-08       Impact factor: 7.661

4.  Expanded Carrier Screening and Its Implications on Genetic Testing Protocols.

Authors:  Alyssa Gates; Sharon F Terry; Natasha Bonhomme
Journal:  Genet Test Mol Biomarkers       Date:  2016-11

5.  Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals.

Authors:  D Cho; M L McGowan; J Metcalfe; R R Sharp
Journal:  Hum Reprod       Date:  2013-04-14       Impact factor: 6.918

6.  Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing.

Authors:  Peter Benn; Audrey R Chapman; Kristine Erickson; Mark S Defrancesco; Louise Wilkins-Haug; James F X Egan; Jay Schulkin
Journal:  Prenat Diagn       Date:  2013-12-16       Impact factor: 3.050

7.  Preconceptional genetic carrier testing and the commercial offer directly-to-consumers.

Authors:  Pascal Borry; Lidewij Henneman; Phillis Lakeman; Leo P ten Kate; Martina C Cornel; Heidi C Howard
Journal:  Hum Reprod       Date:  2011-02-28       Impact factor: 6.918

8.  An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Authors:  Gabriel A Lazarin; Imran S Haque; Shivani Nazareth; Kevin Iori; A Scott Patterson; Jessica L Jacobson; John R Marshall; William K Seltzer; Pasquale Patrizio; Eric A Evans; Balaji S Srinivasan
Journal:  Genet Med       Date:  2012-09-13       Impact factor: 8.822

9.  Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

Authors:  W W Grody; G R Cutting; K W Klinger; C S Richards; M S Watson; R J Desnick
Journal:  Genet Med       Date:  2001 Mar-Apr       Impact factor: 8.822

Review 10.  The Global State of the Genetic Counseling Profession.

Authors:  MaryAnn Abacan; Lamia Alsubaie; Kristine Barlow-Stewart; Beppy Caanen; Christophe Cordier; Eliza Courtney; Emeline Davoine; Janice Edwards; Niby J Elackatt; Kate Gardiner; Yue Guan; Lian-Hua Huang; Charlotta Ingvoldstad Malmgren; Sahil Kejriwal; Hyon J Kim; Deborah Lambert; Paulina Araceli Lantigua-Cruz; Juliana M H Lee; Marianne Lodahl; Åshild Lunde; Shelley Macaulay; Ivan Macciocca; Sonia Margarit; Anna Middleton; Ramona Moldovan; Joanne Ngeow; Alexandra J Obregon-Tito; Kelly E Ormond; Milena Paneque; Karen Powell; Kunal Sanghavi; Diana Scotcher; Jenna Scott; Clara Serra Juhé; Shiri Shkedi-Rafid; Tina-Marié Wessels; Sook-Yee Yoon; Catherine Wicklund
Journal:  Eur J Hum Genet       Date:  2018-10-05       Impact factor: 4.246

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  2 in total

1.  Exploring the use of a Comic for Education about Expanded Carrier Screening among a Diverse Group of Mothers.

Authors:  Erin Rothwell; Sydney Cheek-O'Donnell; Erin Johnson; Alena Wilson; Rebecca A Anderson; Jeffrey Botkin
Journal:  J Commun Healthc       Date:  2021-05-06

2.  Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?

Authors:  Ruth M Farrell; Madelyn Pierce; Christina Collart; Meng Yao; Marissa Coleridge; Edward K Chien; Susannah S Rose; Mary Lintel; Uma Perni; Brownsyne Tucker Edmonds
Journal:  BMC Pregnancy Childbirth       Date:  2021-12-04       Impact factor: 3.007

  2 in total

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