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


METHODS
We performed a retrospective chart review over 34 months 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.


CONCLUSIONS
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.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lauren E
LE
Westerfield
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Samantha R
SR
Stover
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Veena S
VS
Mathur
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Salma A
SA
Nassef
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Tiffiney G
TG
Carter
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.|Baylor Miraca Genetics Laboratories, Houston, TX, USA.
Yaping
Y
Yang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.|Baylor Miraca Genetics Laboratories, Houston, TX, USA.
Christine M
CM
Eng
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.|Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA.
Ignatia B
IB
Van den Veyver
D059472:Exome; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA