Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice

被引：41

作者：

Westerfield, Lauren E. ^{[1
]}

Stover, Samantha R. ^{[1
]}

Mathur, Veena S. ^{[1
]}

Nassef, Salma A. ^{[1
]}

Carter, Tiffiney G. ^{[1
]}

Yang, Yaping ^{[1
,2
]}

Eng, Christine M. ^{[1
,2
]}

Van den Veyver, Ignatia B. ^{[1
,3
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Miraca Genet Labs, Houston, TX USA

[3] Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA

来源：

PRENATAL DIAGNOSIS | 2015年 / 35卷 / 10期

关键词：

ABNORMALITIES; COHORT;

D O I：

10.1002/pd.4674

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objective: Diagnostic whole exome sequencing (WES) is rapidly entering clinical genetics, but experience with reproductive genetic counseling aspects is limited. The purpose of this study was to retrospectively review and report on our experience with preconception and prenatal genetic counseling for diagnostic WES. Method: We performed a retrospective chart review over 34months in a large private prenatal genetic counseling practice and analyzed data for referral indications, findings, and results of genetic counseling related to diagnostic WES. Results: Ten of 14 patients counseled about diagnostic WES for ongoing pregnancies pursued the test, resulting in identification of three pathogenic variants (30%). Five of 15 patients seeking counseling about familial WES results in an affected proband pursued prenatal diagnosis, resulting in identification of one affected fetus and five unaffected fetuses. We experienced challenges related to complexity and uncertainty of results, turnaround time, cost and insurance overage, and multidisciplinary fetal care coordination. Conclusion: Despite having experienced complexity and identified challenges of the reproductive genetic counseling, availability of diagnostic WES contributed important information that aided in prenatal care planning and decision-making. Future enhanced provider education and larger studies to systematically study the integration of WES in reproductive genetic counseling and prenatal care will be important. (c) 2015 John Wiley & Sons, Ltd.

引用

页码：1022 / 1029

页数：8

共 20 条

[1] Increased nuchal translucency in the presence of normal chromosomes: what's next? [J].

Alamillo, Christina M. L. ;

Fiddler, Morris ;

Pergament, Eugene .

CURRENT OPINION IN OBSTETRICS & GYNECOLOGY, 2012, 24 (02) :102-108

[2]

Biesecker LG, 2014, NEW ENGL J MED, V371, P1170, DOI [10.1056/NEJMra1312543, 10.1056/NEJMc1408914]

[3] Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound [J].

Carss, Keren J. ;

Hillman, Sarah C. ;

Parthiban, Vijaya ;

McMullan, Dominic J. ;

Maher, Eamonn R. ;

Kilby, Mark D. ;

Hurles, Matthew E. .

HUMAN MOLECULAR GENETICS, 2014, 23 (12) :3269-3277

[4] Including Prenatal Diagnoses in Birth Defects Monitoring: Experience of the Metropolitan Atlanta Congenital Defects Program [J].

Cragan, Janet D. ;

Gilboa, Suzanne M. .

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2009, 85 (01) :20-29

[5] Genetic Diagnosis through Whole-Exome Sequencing Reply [J].

Jacob, Howard J. .

NEW ENGLAND JOURNAL OF MEDICINE, 2014, 370 (11) :1069-1069

[6]

Eng CM, 2015, COLD SPRING HARB PER, P325

[7] Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype [J].

Filges, I. ;

Nosova, E. ;

Bruder, E. ;

Tercanli, S. ;

Townsend, K. ;

Gibson, W. T. ;

Roethlisberger, B. ;

Heinimann, K. ;

Hall, J. G. ;

Gregory-Evans, C. Y. ;

Wasserman, W. W. ;

Miny, P. ;

Friedman, J. M. .

CLINICAL GENETICS, 2014, 86 (03) :220-228

[8] Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes [J].

Filges, Isabel ;

Friedman, Jan M. .

PRENATAL DIAGNOSIS, 2015, 35 (10) :1005-1009

[9] ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing [J].

Green, Robert C. ;

Berg, Jonathan S. ;

Grody, Wayne W. ;

Kalia, Sarah S. ;

Korf, Bruce R. ;

Martin, Christa L. ;

McGuire, Amy L. ;

Nussbaum, Robert L. ;

O'Daniel, Julianne M. ;

Ormond, Kelly E. ;

Rehm, Heidi L. ;

Watson, Michael S. ;

Williams, Marc S. ;

Biesecker, Leslie G. .

GENETICS IN MEDICINE, 2013, 15 (07) :565-574

[10] Prenatal exome sequencing for fetuses with structural abnormalities: the next step [J].

Hillman, S. C. ;

Willams, D. ;

Carss, K. J. ;

McMullan, D. J. ;

Hurles, M. E. ;

Kilby, M. D. .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2015, 45 (01) :4-9

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