Singh H, Meyer AN, Thomas EJ. The frequency of diagnostic errors in outpatient care: estimations from three large observational studies involving US adult populations. BMJ Qual Saf 2014;23:727–31.CrossrefWeb of SciencePubMedGoogle Scholar
Institute of Medicine NAoS, Engineering, Medicine. Improving diagnosis in health care. In: Balogh EP, Miller BT, Ball JR, editors. Washington, DC: The National Academies Press, 2015:472.Google Scholar
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet 2016;89:275–84.CrossrefWeb of SciencePubMedGoogle Scholar
Wolfe K, Stueber K, McQuillin A, Jichi F, Patch C, Flinter F, et al. Genetic testing in intellectual disability psychiatry: opinions and practices of UK child and intellectual disability psychiatrists. J Appl Res Intellect Disabil 2018;31:273–84.PubMedWeb of ScienceCrossrefGoogle Scholar
Alders M, Bikker H, Christiaans I. Long QT syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., editors. GeneReviews((R)). Seattle, WA: University of Washington, 2018.Google Scholar
O’Malley AS, Reschovsky JD. Referral and consultation communication between primary care and specialist physicians: finding common ground. Arch Intern Med 2011;171:56–65.Web of SciencePubMedGoogle Scholar
Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm 2013;10:1932–63.PubMedCrossrefGoogle Scholar
Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, CalkinsH, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 2011;8:1308–39.PubMedCrossrefGoogle Scholar
Ruiter JS, Berkenbosch-Nieuwhof K, van den Berg MP, van Dijk R, Middel B, van Tintelen JP. The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy. Am J Med Genet A 2010;152A:607–12.Web of ScienceCrossrefPubMedGoogle Scholar
Albert CM, MacRae CA, Chasman DI, VanDenburgh M, Buring JE, Manson JE, et al. Common variants in cardiac ion channel genes are associated with sudden cardiac death. Circ Arrhythm Electrophysiol 2010;3:222–9.PubMedCrossrefGoogle Scholar
Dezman ZD, Mattu A, Body R. Utility of the history and physical examination in the detection of acute coronary syndromes in emergency department patients. West J Emerg Med 2017;18:752–60.PubMedCrossrefWeb of ScienceGoogle Scholar
Miller CE, Krautscheid P, Baldwin EE, Tvrdik T, Openshaw AS, Hart K, et al. Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. Am J Med Genet A 2014;164A:1094–101.Web of ScienceGoogle Scholar
Rubinstein WS, Maglott DR, Lee JM, Kattman BL, Malheiro AJ, Ovetsky M, et al. The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency. Nucleic Acids Res 2013;41(Database issue):D925–35.PubMedWeb of ScienceGoogle Scholar
Hickner J, Thompson PJ, Wilkinson T, Epner P, Sheehan M, Pollock AM, et al. Primary care physicians’ challenges in ordering clinical laboratory tests and interpreting results. J Am Board Fam Med 2014;27:268–74.CrossrefPubMedWeb of ScienceGoogle Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–24.Web of ScienceCrossrefPubMedGoogle Scholar
Bean LJ, Hegde MR. Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Genome Med 2017;9:111.Web of SciencePubMedCrossrefGoogle Scholar
Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, et al. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Genome Med 2017;9:3.CrossrefPubMedWeb of ScienceGoogle Scholar
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011;3:65ra4.Web of SciencePubMedGoogle Scholar
O’Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, et al. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med 2017;19:575–82.Web of SciencePubMedCrossrefGoogle Scholar
Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res 2018;46(Database issue):D1062–7.Web of ScienceCrossrefPubMedGoogle Scholar
Scheuner MT, Peredo J, Tangney K, Schoeff D, Sale T, Lubick-Goldzweig C, et al. Electronic health record interventions at the point of care improve documentation of care processes and decrease orders for genetic tests commonly ordered by nongeneticists. Genet Med 2017;19:112–20.PubMedWeb of ScienceCrossrefGoogle Scholar
Rasmussen LV, Smith ME, Almaraz F, Persell SD, Rasmussen-Torvik LJ, Pacheco JA, et al. An ancillary genomics system to support the return of pharmacogenomic results. J Am Med Inform Assoc 2019;26:306–10.CrossrefPubMedWeb of ScienceGoogle Scholar
About the article
Published Online: 2019-07-09
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: VYS received support from the American Heart Association, Funder Id: http://dx.doi.org/10.13039/100000968: Award Number 16MCPRP31350041.
Employment: IML is employed by the Centers for Disease Control and Prevention. JF, VYS, and CF are employed by the University of Maryland School of Medicine.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Disclaimer: The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the CDC or the US Agency for Toxic Substances and Disease Registry.