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Pharmacogenomic education among genetic counseling training programs in North America.

J Genet Couns 2021 Apr 21. Epub 2021 Apr 21.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

The increasing number of genetic counselors participating directly in clinical pharmacogenomic post-test counseling prompted our evaluation of pharmacogenomic education across genetic counseling training programs in North America. Thirty-one program leadership participants from both the United States (U.S. Read More

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Pregnancy in catecholaminergic polymorphic ventricular tachycardia: therapeutic optimization and multidisciplinary care are key to success.

Herzschrittmacherther Elektrophysiol 2021 Apr 21. Epub 2021 Apr 21.

Centre for Cardiovascular Innovation, Division of Cardiology, Department of Medicine, The University of British Columbia, Vancouver, Canada.

Women of child-bearing age comprise a large proportion of the patients followed by inherited arrhythmia clinics. Despite being a rare and dangerous diagnosis, cardiac and obstetric care providers should know that catecholaminergic polymorphic ventricular tachycardia (CPVT) is not a contraindication to pregnancy. In fact, pregnancy was not associated with an increased risk of CPVT-associated arrhythmias in a recent large cohort study, and most guideline-based anti-arrhythmic drug treatments are life-saving and carry a low risk of teratogenesis. Read More

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Value of a genetics clinic evaluation in identifying women at risk for hereditary breast-ovarian cancer syndrome.

J Genet Couns 2021 Apr 21. Epub 2021 Apr 21.

Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.

Our work evaluates the contributions of a genetics clinic visit in assessing patients' risk of hereditary cancers and in meeting National Cancer Comprehensive Network (NCCN) criteria for genetic testing. We reviewed the electronic health records (EHR) of 56 women seen for medical care in our healthcare system who were subsequently seen in the Adult Genetics Clinic. We searched for all personal or family cancer history available in either free-text or structured form within the EHR prior to the genetics visit. Read More

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Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.

Medicine (Baltimore) 2021 Apr;100(16):e25463

Department of Neurology.

Introduction: Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the ATPase copper transporting beta gene (ATP7B). WD can cause fatal neurological and hepatic disorders if not diagnosed and treated.

Objective: To analyze the disease-causing mutations of 14 Chinese WD children, 11 of whom are diagnosed with hepatic disorders, 2 with neurological degeneration and 1 with both hepatic and neurological disorders. Read More

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Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature.

Reprod Biol Endocrinol 2021 Apr 20;19(1):58. Epub 2021 Apr 20.

Reproductive Medical Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.

Background: Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance for a healthy live birth. However, limited knowledge is known on the data of PGT-SR when both parents have a reciprocal translocation. Here, we for the first time present a rare instance of PGT-SR for a non-consanguineous couple in which both parents carried an independent balanced reciprocal translocation and show how relevant genetic counseling data can be generated. Read More

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First Trimester Cystic Hygroma: Herald to Early Diagnosis of Congenital Diaphragmatic Hernia.

P R Health Sci J 2021 Mar;40(1):53-55

Maternal- Fetal Medicine Specialists of South Florida, LLC; Herbert Wertheim College of Medicine, Florida International University. Miami, Florida.

The early diagnosis of in utero congenital diaphragmatic hernia (CDH) allows a thorough evaluation for other morbidities that may be associated with CDH. Our patient was referred to us with a fetus at 13 weeks gestational age with a thick nuchal translucency. Our team performed a transvaginal ultrasound that revealed a large ystic hygroma, a heart displaced to the right, and a heterogeneous mass with peristalsis in the left chest. Read More

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Universal access to genetic counseling for women with epithelial ovarian cancer in Nova Scotia: Evaluating a new collaborative care model.

J Genet Couns 2021 Apr 19. Epub 2021 Apr 19.

Division of Gynaecologic Oncology, Dalhousie University, Halifax, NS, Canada.

Women with pathogenic variants in BRCA1/2 have a significantly increased lifetime risk of breast and ovarian cancers. The availability of genetic testing to identify BRCA1/2 carriers is imperative to disease prevention and treatment. We evaluated the effectiveness of a new collaborative care model in Nova Scotia, involving the integration of genetic counselors into tumor board rounds, reduction in time allotted for initial genetic counseling appointments from 60 to 45 min, and a standardized dictation template, to increase referral rate for genetic counseling. Read More

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Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohort.

J Genet Couns 2021 Apr 19. Epub 2021 Apr 19.

University of Technology Sydney, Sydney, Australia.

Although genetic counseling is traditionally done through in-person, one-on-one visits, workforce shortages call for efficient result return mechanisms. Studies have shown that telephone and in-person return of cancer genetic results are equivalent for patient outcomes. Few studies have been conducted with other modes, result types or racially diverse participants. Read More

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Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome.

Int J Ophthalmol 2021 18;14(4):504-509. Epub 2021 Apr 18.

Department of Ophthalmology, Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities), Yinchuan 750002, the Ningxia Hui Autonomous Region, China.

Aim: To characterize the genetic causes and clinical features in a four-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Methods: Thirteen patients with BPES and eight healthy family members were included in this study. All participants received routine ophthalmic examinations. Read More

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Physician-guided, hybrid genetic testing exerts promising effects on health-related behavior without compromising quality of life.

Sci Rep 2021 Apr 19;11(1):8494. Epub 2021 Apr 19.

Department of General Internal Medicine and Nephrology, Robert-Bosch-Hospital, Auerbachstraße 110, 70376, Stuttgart, Germany.

Genetic risk analysis is increasingly in demand by participants. Hybrid genetic testing has the advantage over direct to consumer testing by involving a physician who guides the process and offers counseling after receiving the results. The objective of this study was to determine whether a structured physician moderated primary preventive, hybrid genetic risk assessment enhanced counseling program leads to improvement in lifestyle and does not impair quality of life. Read More

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[Common variable immunodeficiency disorders: Updated diagnostic criteria and genetics].

Rev Med Interne 2021 Apr 16. Epub 2021 Apr 16.

Service de médecine interne et maladies infectieuses, hôpital Haut-Lévêque, CHU de Bordeaux, 5, avenue de Magellan, 33604 Pessac, France; Université de Bordeaux, Bordeaux, France. Electronic address:

Common variable immunodeficiency disorders (CVID) are a heterogeneous group of conditions with hypogammaglobulinemia as the common denominator. These are the most common symptomatic primary immunodeficiency disorder in adults. Two different clinical forms are described: one group only develops infections, while a second includes (sometimes without infections, at least at the onset of disease course) a variety of non-infectious autoimmune, inflammatory, granulomatous and/or lymphoproliferative manifestations, sometimes revealing the disease and often observed in Internal Medicine. Read More

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Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.

Circulation 2021 Apr 20. Epub 2021 Apr 20.

Cardiovascular Institute, and Penn Muscle Institute, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Peripartum cardiomyopathy (PPCM) occurs in approximately 1:2000 deliveries in the US and worldwide. The genetic underpinnings of PPCM remain poorly defined. Approximately 10% of women with PPCM harbor truncating variants in (TTNtvs). Read More

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Environmental factors in non-syndromic orofacial clefts: A review based on meta-analyses results.

Authors:
José Suazo

Oral Dis 2021 Apr 19. Epub 2021 Apr 19.

Institute for Research in Dental Sciences, School of Dentistry, Universidad de Chile, Santiago, Chile.

Non-syndromic orofacial clefts (NSOFCs) are prevalent birth defects with a complex etiology where several interacting genetic and environmental factors have been observed. This narrative review describes maternal exposures which have been significantly associated to protective effects or risk factors. The statistically significant information reported here was found in meta-analysis studies, taking advantage of their precision in defining intervention effects and their management of heterogeneity between studies. Read More

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Genetic discrimination views in online discussion forums: Perspectives from Canadian forumites.

J Genet Couns 2021 Apr 19. Epub 2021 Apr 19.

Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montréal, QC, Canada.

Recent advancements in genetic technologies have made genetic information increasingly sought out in a wide range of non-therapeutic contexts, which has increased the risk that such information be used to discriminate against individuals. Frequently, it is genetic counselors who have to respond to questions about genetic discrimination (GD) from worried patients. Here, we examine the general Canadian public's knowledge, attitudes, and concerns about GD through a comprehensive analysis and categorization of posts from selected Canadian online discussion forums. Read More

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Pregnant women's psychological state and influence factors: anxiety, and depression during COVID-19 outbreak.

J Perinat Med 2021 Apr 16. Epub 2021 Apr 16.

Department of Obstetrics and Gynecology, Zhongnan Hospital of Wuhan University, WuhanHubei, P. R. China.

Objectives: The outbreak of COVID-19 affects both physical and mental health of pregnant women. This study focuses on their psychological status, and analyzes the main factors affecting their emotions of pregnant women so as to provide guidance for psychological counseling and social intervention during epidemics.

Methods: Multiple researchers distributed a questionnaire online via the Internet. Read More

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Genetic counselors, patients', and carers' views on an Australian clinical genetics service information system.

J Genet Couns 2021 Apr 18. Epub 2021 Apr 18.

Clinical Applications Support, Service Delivery, eHealth NSW, Chatswood, NSW, Australia.

The Genetic Information System (GIS) is an Australian database of family genetic information. This health information technology system has been used by all 31 publicly operated clinical genetics services across New South Wales (NSW) and the Australian Capital Territory (ACT) for over a decade. As these services are separated geographically, the linkage engendered by the GIS facilitates the services to operate as a virtual state-wide service. Read More

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Breakpoints Identification of a Balanced Complex Chromosome Rearrangement Case: 46,XX, t(6;15;10;9)(q13;q15;p11.2;q34.3) ins(9;8)(q22.33;q21.1q21.3).

Clin Lab 2021 Apr;67(4)

Background: Balanced complex chromosome rearrangement (CCR) carriers are phenotypically normal but at high risk of reproductive failure, recurrent miscarriages, and affected offspring, so that cytogenetic characterizations of CCR carriers are crucial.

Methods: We report a case of CCR: 46,XX, t(6;15;10;9)(q13;q15;p11.2;q34. Read More

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A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.

Int J Pediatr Otorhinolaryngol 2021 Apr 14;145:110711. Epub 2021 Apr 14.

Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China; Regional Key Laboratory of Early Prevention and Treatment of High-Rise Tumors, Nanning, 530021, China. Electronic address:

Objective: Waardenburg syndrome type 2 (WS2) is a rare neural-crest disorder, characterized by heterochromic irides or blue eyes and sensorineural hearing loss. The aim of this study was to analyze the clinical features and investigate the genetic cause of WS2 in a small family from Guangxi Zhuang Autonomous region.

Methods: Whole-exome sequencing and mutational analysis were used to identify disease-causing genes in this family. Read More

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A content analysis of direct-to-consumer DNA testing on TikTok.

J Community Genet 2021 Apr 15. Epub 2021 Apr 15.

Department of Public Health, William Paterson University, University Hall 366, Wayne, NJ, 07470, USA.

Despite the fact that the internet is a popular source of health information, limited research has been conducted on the ways in which direct-to-consumer (DTC) DNA testing has been discussed by consumers on the internet, and on social media platforms specifically. The purpose of this study was to describe the content of 100 videos that addressed DTC DNA testing on TikTok, a video-sharing social network. The 100 videos included had a combined 77,498 comments and 9,680,309 likes. Read More

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Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Mol Neurobiol 2021 Apr 15. Epub 2021 Apr 15.

Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, 100101, China.

Neurodevelopmental disorders (NDDs) are a group of diseases characterized by high heterogeneity and frequently co-occurring symptoms. The mutational spectrum in patients with NDDs is largely incomplete. Here, we sequenced 547 genes from 1102 patients with NDDs and validated 1271 potential functional variants, including 108 de novo variants (DNVs) in 78 autosomal genes and seven inherited hemizygous variants in six X chromosomal genes. Read More

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The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.

Gynecol Oncol 2021 Apr 13. Epub 2021 Apr 13.

Gynecologic Oncology, The University Health Network, Toronto, Canada; Department of Obstetrics and Gynecology, University of Toronto, Toronto, Canada. Electronic address:

Background: Up to 20% of high-grade serous ovarian carcinomas (HGSOC) are hereditary; however, historical uptake of genetic testing is low. We used a unique combination of approaches to identify women in Ontario, Canada, with a first-degree relative (FDR) who died from HGSOC without prior genetic testing, and offer them multi-gene panel testing.

Methods: From May 2015-Sept 2019, genetic counseling and testing was provided to eligible participants. Read More

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"I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.

Fam Cancer 2021 Apr 15. Epub 2021 Apr 15.

Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

Little is known about what uncertainties patients experience after being identified to carry a pathogenic variant in a moderate-risk cancer gene as a result of undergoing multigene panel testing for cancer susceptibility. Data regarding cancer risk estimates and effectiveness of risk management strategies for these variants continues to evolve, which has the potential to evoke uncertainty. Acknowledging uncertainty during pre- and post-test discussions is imperative to helping individuals to adapt to their results. Read More

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Diagnosis, Education, and Care of Patients with -Associated Nephropathy: A Delphi Consensus and Systematic Review.

J Am Soc Nephrol 2021 Apr 14. Epub 2021 Apr 14.

Department of Bioethics and Humanities, University of Washington, Seattle, Washington.

Background: variants contribute to the markedly higher incidence of ESKD in Blacks compared with Whites. Genetic testing for these variants in patients with African ancestry who have nephropathy is uncommon, and no specific treatment or management protocol for -associated nephropathy currently exists.

Methods: A multidisciplinary, racially diverse group of 14 experts and patient advocates participated in a Delphi consensus process to establish practical guidance for clinicians caring for patients who may have -associated nephropathy. Read More

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Parental mosaicism in de novo neurodevelopmental diseases.

Am J Med Genet A 2021 Apr 14. Epub 2021 Apr 14.

Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China.

Neurodevelopmental diseases are increasingly recognized to be caused by "de novo" variants with the expanding use of next-generation sequencing. The apparent de novo variants may actually be low-level hereditary parental mosaic variants, which could increase the recurrence risk of disease by >50% and is thought to be an underappreciated cause of neurodevelopmental diseases. Our study aimed to investigate the frequency of parental mosaicism in "de novo" neurodevelopmental diseases. Read More

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Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.

Ann Hematol 2021 Apr 13. Epub 2021 Apr 13.

Internal Medicine and Hematology, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey.

Thalassemia is a common genetic disorder. We aimed to present thalassemia mutation data that covers a period of 7 years from the Mediterranean region of Turkey by comparing with hemoglobin indices and to contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. In this study, in which a retrospective archive was scanned, the cases were first grouped as α and β thalassemia, and then β thalassemia mutations were examined in a total of 5 groups as UTR-Pro, Codon, IVS, β, and β. Read More

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Genetic counseling prior to assisted reproductive technology.

Reprod Med Biol 2021 Apr 31;20(2):133-143. Epub 2020 Dec 31.

Department of Obstetrics and Gynecology Faculty of Medicine Toho University Tokyo Japan.

Background: Reproductive medicine deals with fertility and is closely related to heredity. In reproductive medicine, it is necessary to provide genetic information for the patients prior to assisted reproductive technology (ART). Japan Society for Reproductive Medicine (JSRM) requires doctors involved in reproductive medicine to have standard knowledge of reproductive genetics and knowledge of reproductive medicine, which is covered in their publication, "required knowledge of reproductive medicine. Read More

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Outcomes of large panel genetic evaluation of breast cancer patients in a community-based cancer institute.

Am J Surg 2021 Apr 1. Epub 2021 Apr 1.

Legacy Medical Group (LMG), Department of Surgical Oncology, Portland, OR, 97227, USA. Electronic address:

Introduction: The use of restricted versus expanded panel genetic testing in breast cancer is controversial, with some institutions offering predominantly abbreviated gene panel testing. Our community program has offered larger panel testing for several years. We sought to evaluate the outcomes of large panel genetic testing and understand their impact on patient care. Read More

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