Literature DB >> 24435697

Next Generation sequencing is the impetus for the next generation of laboratory-based genetic counselors.

Amy Swanson1, Erica Ramos, Holly Snyder.   

Abstract

Next generation sequencing (NGS) is dramatically increasing the number of clinically available genetic tests and thus the number of patients in which such testing may be indicated. The complex nature and volume of the reported results requires professional interpretation of the testing in order to translate and synthesize the meaning and potential benefit to patients, and genetic counselors are uniquely suited to provide this service. The increased need for genetic counselors in this role, coupled with the time required and a limited number of trained and available counselors presents a challenge to current models for making genetic testing available to patients and their healthcare providers effectively and efficiently. The employment of genetic counselors at genetic/genomic laboratories is one model to expand the resources for providing this service. In this article, we briefly review the advent of NGS and its clinical applications, examine the core skills of genetic counselors and delineate the expanding roles and responsibilities of laboratory-based genetic counselors. We also propose changes to the genetic counseling training program curriculum to account for the increasing opportunities for genetic counselors to contribute and thrive within genetic testing laboratories.

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Year:  2014        PMID: 24435697     DOI: 10.1007/s10897-013-9684-1

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  27 in total

1.  Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma.

Authors:  Ying Li; Edoardo Di Naro; Angeloantonio Vitucci; Bernhard Zimmermann; Wolfgang Holzgreve; Sinuhe Hahn
Journal:  JAMA       Date:  2005-02-16       Impact factor: 56.272

2.  Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.

Authors:  Diana W Bianchi; Lawrence D Platt; James D Goldberg; Alfred Z Abuhamad; Amy J Sehnert; Richard P Rava
Journal:  Obstet Gynecol       Date:  2012-05       Impact factor: 7.661

3.  Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma.

Authors:  Eric Wang; Annette Batey; Craig Struble; Thomas Musci; Ken Song; Arnold Oliphant
Journal:  Prenat Diagn       Date:  2013-05-09       Impact factor: 3.050

Review 4.  Genetics and sudden death.

Authors:  Raffaella Lombardi
Journal:  Curr Opin Cardiol       Date:  2013-05       Impact factor: 2.161

5.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

6.  Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening.

Authors:  Shilpa Chetty; Matthew J Garabedian; Mary E Norton
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050

7.  Real-time DNA sequencing from single polymerase molecules.

Authors:  John Eid; Adrian Fehr; Jeremy Gray; Khai Luong; John Lyle; Geoff Otto; Paul Peluso; David Rank; Primo Baybayan; Brad Bettman; Arkadiusz Bibillo; Keith Bjornson; Bidhan Chaudhuri; Frederick Christians; Ronald Cicero; Sonya Clark; Ravindra Dalal; Alex Dewinter; John Dixon; Mathieu Foquet; Alfred Gaertner; Paul Hardenbol; Cheryl Heiner; Kevin Hester; David Holden; Gregory Kearns; Xiangxu Kong; Ronald Kuse; Yves Lacroix; Steven Lin; Paul Lundquist; Congcong Ma; Patrick Marks; Mark Maxham; Devon Murphy; Insil Park; Thang Pham; Michael Phillips; Joy Roy; Robert Sebra; Gene Shen; Jon Sorenson; Austin Tomaney; Kevin Travers; Mark Trulson; John Vieceli; Jeffrey Wegener; Dawn Wu; Alicia Yang; Denis Zaccarin; Peter Zhao; Frank Zhong; Jonas Korlach; Stephen Turner
Journal:  Science       Date:  2008-11-20       Impact factor: 47.728

8.  Non-invasive prenatal measurement of the fetal genome.

Authors:  H Christina Fan; Wei Gu; Jianbin Wang; Yair J Blumenfeld; Yasser Y El-Sayed; Stephen R Quake
Journal:  Nature       Date:  2012-07-19       Impact factor: 49.962

9.  DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.

Authors:  Glenn E Palomaki; Cosmin Deciu; Edward M Kloza; Geralyn M Lambert-Messerlian; James E Haddow; Louis M Neveux; Mathias Ehrich; Dirk van den Boom; Allan T Bombard; Wayne W Grody; Stanley F Nelson; Jacob A Canick
Journal:  Genet Med       Date:  2012-02-02       Impact factor: 8.822

10.  Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples.

Authors:  Tracy Futch; John Spinosa; Sucheta Bhatt; Eileen de Feo; Richard P Rava; Amy J Sehnert
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050

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  11 in total

1.  Risk for Patient Harm in Canadian Genetic Counseling Practice: It's Time to Consider Regulation.

Authors:  Andrea L Shugar; Nada Quercia; Christopher Trevors; Marina M Rabideau; Sohnee Ahmed
Journal:  J Genet Couns       Date:  2016-06-07       Impact factor: 2.537

Review 2.  Disorders of sex development: effect of molecular diagnostics.

Authors:  John C Achermann; Sorahia Domenice; Tania A S S Bachega; Mirian Y Nishi; Berenice B Mendonca
Journal:  Nat Rev Endocrinol       Date:  2015-05-05       Impact factor: 43.330

Review 3.  The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting.

Authors:  Jessica R Balcom; Katrina E Kotzer; Lindsey A Waltman; Jennifer L Kemppainen; Brittany C Thomas
Journal:  J Genet Couns       Date:  2016-04-22       Impact factor: 2.537

4.  Further Defining the Role of the Laboratory Genetic Counselor.

Authors:  Lindsey Waltman; Cassandra Runke; Jessica Balcom; Jacquelyn D Riley; Margaret Lilley; Susan Christian; Lindsay Zetzsche; McKinsey L Goodenberger
Journal:  J Genet Couns       Date:  2016-02-20       Impact factor: 2.537

5.  Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

Authors:  Megan E Grove; Shana White; Dianna G Fisk; Shannon Rego; Orit Dagan-Rosenfeld; Jennefer N Kohler; Chloe M Reuter; Devon Bonner; Matthew T Wheeler; Jonathan A Bernstein; Kelly E Ormond; Andrea K Hanson-Kahn
Journal:  J Genet Couns       Date:  2019-02-01       Impact factor: 2.537

Review 6.  Understanding patient and provider perceptions and expectations of genomic medicine.

Authors:  Michael J Hall; Andrea D Forman; Susan V Montgomery; Kim L Rainey; Mary B Daly
Journal:  J Surg Oncol       Date:  2014-07-03       Impact factor: 3.454

7.  Conflicts of interest in genetic counseling: acknowledging and accepting.

Authors:  Katie A Stoll; Amanda Mackison; Megan A Allyse; Marsha Michie
Journal:  Genet Med       Date:  2017-01-26       Impact factor: 8.822

Review 8.  Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond.

Authors:  Megan Allyse; Subhashini Chandrasekharan
Journal:  Genet Med       Date:  2015-03-19       Impact factor: 8.822

Review 9.  Evolving Roles of Genetic Counselors in the Clinical Laboratory.

Authors:  Megan T Cho; Carrie Guy
Journal:  Cold Spring Harb Perspect Med       Date:  2020-10-01       Impact factor: 5.159

Review 10.  Understanding the Basics of NGS: From Mechanism to Variant Calling.

Authors:  Dale Muzzey; Eric A Evans; Caroline Lieber
Journal:  Curr Genet Med Rep       Date:  2015-09-04
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