Literature DB >> 33786929

Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first.

Marci L B Schwartz1, Adam H Buchanan1, Miranda L G Hallquist1, Christopher M Haggerty2,3, Amy C Sturm1.   

Abstract

Emerging genetic testing delivery models have enabled individuals to receive testing without a medical indication. This article will highlight key considerations for patient care in the setting of adult patients with positive results for monogenic disease identified through genomic screening. Suggestions for how to adapt genetic counseling to a genomic screening population will encompass topics such as phenotyping, risk assessments, and the use of existing guidelines and resources. Case examples will demonstrate principles of genotype-first patient care.
© 2021 National Society of Genetic Counselors.

Entities:  

Keywords:  genetic counseling; genetics services; population screening; predictive genetic testing; risk assessment; secondary findings

Mesh：

Year:  2021        PMID： 33786929      PMCID： PMC8192338          DOI： 10.1002/jgc4.1386

Source DB:  PubMed          Journal:  J Genet Couns        ISSN： 1059-7700            Impact factor:   2.717


  29 in total

Review 1.  Management of Secondary Genomic Findings.

Authors:  Alexander E Katz; Robert L Nussbaum; Benjamin D Solomon; Heidi L Rehm; Marc S Williams; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2020-07-02       Impact factor: 11.025

Review 2.  Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing.

Authors:  James T Lu; Matthew Ferber; Jill Hagenkord; Elissa Levin; Sarah South; Hyunseok P Kang; Kimberly A Strong; David P Bick
Journal:  J Mol Diagn       Date:  2018-11-17       Impact factor: 5.568

3.  Teaching genomic counseling: preparing the genetic counseling workforce for the genomic era.

Authors:  Gillian W Hooker; Kelly E Ormond; Kevin Sweet; Barbara B Biesecker
Journal:  J Genet Couns       Date:  2014-02-08       Impact factor: 2.537

4.  Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Authors: 
Journal:  Am J Hum Genet       Date:  2019-08-22       Impact factor: 11.025

5.  Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.

Authors:  Eric D Carruth; Wilson Young; Dominik Beer; Cynthia A James; Hugh Calkins; Linyuan Jing; Sushravya Raghunath; Dustin N Hartzel; Joseph B Leader; H Lester Kirchner; Diane T Smelser; David J Carey; Melissa A Kelly; Amy C Sturm; Amro Alsaid; Brandon K Fornwalt; Christopher M Haggerty
Journal:  Circ Genom Precis Med       Date:  2019-10-22

6.  Patient assessment of chatbots for the scalable delivery of genetic counseling.

Authors:  Tara Schmidlen; Marci Schwartz; Kristy DiLoreto; H Lester Kirchner; Amy C Sturm
Journal:  J Genet Couns       Date:  2019-09-24       Impact factor: 2.537

Review 7.  Hypothesis-generating research and predictive medicine.

Authors:  Leslie G Biesecker
Journal:  Genome Res       Date:  2013-07       Impact factor: 9.043

8.  Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.

Authors:  Børge G Nordestgaard; M John Chapman; Steve E Humphries; Henry N Ginsberg; Luis Masana; Olivier S Descamps; Olov Wiklund; Robert A Hegele; Frederick J Raal; Joep C Defesche; Albert Wiegman; Raul D Santos; Gerald F Watts; Klaus G Parhofer; G Kees Hovingh; Petri T Kovanen; Catherine Boileau; Maurizio Averna; Jan Borén; Eric Bruckert; Alberico L Catapano; Jan Albert Kuivenhoven; Päivi Pajukanta; Kausik Ray; Anton F H Stalenhoef; Erik Stroes; Marja-Riitta Taskinen; Anne Tybjærg-Hansen
Journal:  Eur Heart J       Date:  2013-08-15       Impact factor: 29.983

9.  Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic.

Authors:  Miranda L G Hallquist; Eric P Tricou; Michael N Hallquist; Juliann M Savatt; Heather Rocha; Alyson E Evans; Nicole Deckard; Yirui Hu; H Lester Kirchner; Josie Pervola; Alanna Kulchak Rahm; Misha Rashkin; Tara J Schmidlen; Marci L B Schwartz; Janet L Williams; Marc S Williams; Adam H Buchanan
Journal:  Genet Med       Date:  2020-04-30       Impact factor: 8.822

10.  A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

Authors:  Jessica Ezzell Hunter; Stephanie A Irving; Leslie G Biesecker; Adam Buchanan; Brian Jensen; Kristy Lee; Christa Lese Martin; Laura Milko; Kristin Muessig; Annie D Niehaus; Julianne O'Daniel; Margaret A Piper; Erin M Ramos; Sheri D Schully; Alan F Scott; Anne Slavotinek; Nara Sobreira; Natasha Strande; Meredith Weaver; Elizabeth M Webber; Marc S Williams; Jonathan S Berg; James P Evans; Katrina A B Goddard
Journal:  Genet Med       Date:  2016-04-28       Impact factor: 8.822
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  3 in total

Review 1.  Genotype-phenotype Correlates in Arrhythmogenic Cardiomyopathies.

Authors:  Brittney Murray; Cynthia A James
Journal:  Curr Cardiol Rep       Date:  2022-09-08       Impact factor: 3.955

2.  Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.

Authors:  Carrie L Blout Zawatsky; Nidhi Shah; Kalotina Machini; Emma Perez; Kurt D Christensen; Hana Zouk; Marcie Steeves; Christopher Koch; Melissa Uveges; Janelle Shea; Nina Gold; Joel Krier; Natalie Boutin; Lisa Mahanta; Heidi L Rehm; Scott T Weiss; Elizabeth W Karlson; Jordan W Smoller; Matthew S Lebo; Robert C Green
Journal:  Am J Hum Genet       Date:  2021-11-08       Impact factor: 11.025

3.  The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study.

Authors:  Laura E Forrest; Rowan Forbes Shepherd; Erin Tutty; Angela Pearce; Ian Campbell; Lisa Devereux; Alison H Trainer; Paul A James; Mary-Anne Young
Journal:  J Pers Med       Date:  2022-07-07
  3 in total

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