Literature DB >> 36118815

Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.

Angela Lee1, Julie Neidich2, Hoanh Nguyen1.   

Abstract

The field of genetics has evolved rapidly over the last few decades, from testing methods to genetic diagnoses, bringing new genetic testing guidelines and considerations for health care providers. Overall geneticists are limited in number and availability, particularly in non-academic settings, and many patients first present to a primary care provider. Here, we aim to review various modalities of genetic testing, their indications, limitations, and other pretest considerations for the primary care provider. In addition, we comment on the limitations of direct-to-consumer (DTC) genetic testing, which has seen a rise in popularity among the general population. Copyright 2022 by the Missouri State Medical Association.

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Year:  2022        PMID: 36118815      PMCID: PMC9462914     

Source DB:  PubMed          Journal:  Mo Med        ISSN: 0026-6620


  34 in total

1.  Keeping pace with the times--the Genetic Information Nondiscrimination Act of 2008.

Authors:  Kathy L Hudson; M K Holohan; Francis S Collins
Journal:  N Engl J Med       Date:  2008-06-19       Impact factor: 91.245

Review 2.  Identification, Evaluation, and Management of Children With Autism Spectrum Disorder.

Authors:  Susan L Hyman; Susan E Levy; Scott M Myers
Journal:  Pediatrics       Date:  2019-12-16       Impact factor: 7.124

Review 3.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

Review 4.  Clinical genetic evaluation of the child with mental retardation or developmental delays.

Authors:  John B Moeschler; Michael Shevell
Journal:  Pediatrics       Date:  2006-06       Impact factor: 7.124

5.  First, do no harm: direct-to-consumer genetic testing.

Authors:  Jennifer Schleit; Lorraine V Naylor; Fuki M Hisama
Journal:  Genet Med       Date:  2018-06-14       Impact factor: 8.822

Review 6.  Evolution of genetic techniques: past, present, and beyond.

Authors:  Asude Alpman Durmaz; Emin Karaca; Urszula Demkow; Gokce Toruner; Jacqueline Schoumans; Ozgur Cogulu
Journal:  Biomed Res Int       Date:  2015-03-22       Impact factor: 3.411

7.  False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

Authors:  Stephany Tandy-Connor; Jenna Guiltinan; Kate Krempely; Holly LaDuca; Patrick Reineke; Stephanie Gutierrez; Phillip Gray; Brigette Tippin Davis
Journal:  Genet Med       Date:  2018-03-22       Impact factor: 8.822

8.  Direct-to-consumer genetic testing.

Authors:  Rachel Horton; Gillian Crawford; Lindsey Freeman; Angela Fenwick; Caroline F Wright; Anneke Lucassen
Journal:  BMJ       Date:  2019-10-16

9.  An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

Authors:  David P Dimmock; Michelle M Clark; Mary Gaughran; Julie A Cakici; Sara A Caylor; Christina Clarke; Michele Feddock; Shimul Chowdhury; Lisa Salz; Cynthia Cheung; Lynne M Bird; Charlotte Hobbs; Kristen Wigby; Lauge Farnaes; Cinnamon S Bloss; Stephen F Kingsmore
Journal:  Am J Hum Genet       Date:  2020-11-05       Impact factor: 11.043

10.  Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.

Authors:  Jennifer Malinowski; David T Miller; Scott E Hickey; Jun Shen; Laurie Demmer; Jennifer Gannon; Elaine Maria Pereira; Molly C Schroeder; Maren T Scheuner; Anne Chun-Hui Tsai
Journal:  Genet Med       Date:  2020-03-23       Impact factor: 8.822

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