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 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. 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.
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 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. 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.
Authors: Alekhya Narravula; Kathryn B Garber; S Hussain Askree; Madhuri Hegde; Patricia L Hall Journal: Genet Med Date: 2016-06-16 Impact factor: 8.822
Authors: F Mone; R Y Eberhardt; M E Hurles; D J Mcmullan; E R Maher; J Lord; L S Chitty; E Dempsey; T Homfray; J L Giordano; R J Wapner; L Sun; T N Sparks; M E Norton; M D Kilby Journal: Ultrasound Obstet Gynecol Date: 2021-10 Impact factor: 8.678
Authors: Karen L Stals; Matthew Wakeling; Júlia Baptista; Richard Caswell; Andrew Parrish; Julia Rankin; Carolyn Tysoe; Garan Jones; Adam C Gunning; Hana Lango Allen; Lisa Bradley; Angela F Brady; Helena Carley; Jenny Carmichael; Bruce Castle; Deirdre Cilliers; Helen Cox; Charu Deshpande; Abhijit Dixit; Jacqueline Eason; Frances Elmslie; Andrew E Fry; Alan Fryer; Muriel Holder; Tessa Homfray; Emma Kivuva; Victoria McKay; Ruth Newbury-Ecob; Michael Parker; Ravi Savarirayan; Claire Searle; Nora Shannon; Deborah Shears; Sarah Smithson; Ellen Thomas; Peter D Turnpenny; Vinod Varghese; Pradeep Vasudevan; Emma Wakeling; Emma L Baple; Sian Ellard Journal: Prenat Diagn Date: 2017-12-03 Impact factor: 3.050