The Role of Genetic Counseling in the Prevention of Intellectual Disability and Deafness: Two Common Disabilities in Iran by Fatemeh Shahraki, Morteza Oladnabi

“…According to the US Centers for Disease Control and Prevention (CDC) definition, genetic counseling is a process in which information is presented about how genetic conditions affect a patient or his/her family. A genetic counselor collects a patient’s personal and family health history to promote the family’s awareness and perception of specific genetic diseases, testing risks and advantages, disease management, and assessment of available therapeutic options. …”
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Genetic Counseling in Kidney Disease: A Perspective by Quinn Stein, Maggie Westemeyer, Tarek Darwish, Tessa Pitman, Megan Hager, Hossein Tabriziani, Kathryn Curry, Kathleen Collett, Darbey Raible, Emily Hendricks

“…As genetic testing is increasingly integrated into nephrology practice there is a growing need for partnership with genetic experts. Genetic counselors are ideally suited to fill this role. …”
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Pharmacogenomic (PGx) Counseling: Exploring Participant Questions about PGx Test Results by Tara Schmidlen, Amy C. Sturm, Laura B. Scheinfeldt

“…These results further support a role for genetic counselors in the team-based approach to optimal PGx result delivery.…”
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Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report by Mohammad Yahya VAHIDI MEHRJARDI, Masoud DEHGHAN TEZERJANI, Mahmoud NORI-SHADKAM, Seyed Mehdi KALANTAR, Mohammadreza DEHGHANI

“…These clinical abnormalities can be related to this marker, and it may help genetic counselor for predicting abnormality risk in susceptible individuals as well as prenatal diagnosis.…”
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Developing genomic knowledge bases and databases to support clinical management: current perspectives by Huser V, Sincan M, Cimino JJ

“…We assume a clinical sequencing scenario (germline whole-exome sequencing) in which a clinical specialist, such as an endocrinologist, needs to tailor patient management decisions within his or her specialty (targeted findings) but relies on a genetic counselor to interpret off-target incidental findings. …”
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Pediatric cataract: challenges and future directions by Medsinge A, Nischal KK

“…Although pediatric cataracts have a diverse etiology, with the majority being idiopathic, genetic counseling and molecular testing should be undertaken with the help of a genetic counselor and/or geneticist in cases of hereditary cataracts. …”
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A Case of Limb Girdle Muscular Dystrophy Type 2A from India: Copy Number Variation Analysis using Targeted Amplicon Sequencing by Arpan D Bhatt, Krati Shah, Apurva Puvar, Chaitanya G Joshi, Madhvi Joshi

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Understanding the Uptake and Challenges of Genetic Testing Guidelines for Prostate Cancer Patients by Yash Suri, Jonathan Parham Yasmeh, Arnab Basu

“…Other barriers included: lack of genetic counselor workforce (70%), lack of knowledge of genetic testing and the inadequate co-ordination of referrals (60%). …”
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Molecular and Biochemical Aspects of Hypophosphatemic Rickets: An Updated Review by Fateme Asadzadeh Manjili, Mohammad Hosein Bakhshi Aliabad, Seyed Mehdi Kalantar, Afsaneh Sahebzamani, Amin Safa

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Clinical Importance of Pericentric Inversion of Chromosome 9: A Case Report of Miscarriage and Neonatal Death by Nayereh Nouri, narges nouri, Maryam Sedghi

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“Who Doesn’t Like Receiving Good News?” Perspectives of Individuals Who Received Genomic Screening Results by Mail by Annika T. Beck, Erica J. Sutton, Carolyn P. Y. Chow, Susan H. Curtis, Iftikhar J. Kullo, Richard R. Sharp

“…One approach to managing this limitation is for a genetic counselor to communicate clinically actionable results in person or by telephone, but report other results by mail. …”
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“They’re Not Going to Do Nothing for Me”: Research Participants’ Attitudes towards Elective Genetic Counseling by Erica J. Sutton, Annika T. Beck, Kylie O. Gamm, Jennifer B. McCormick, Iftikhar J. Kullo, Richard R. Sharp

“…Although the participants had questions about their results, they did not feel that speaking with a genetic counselor would be helpful. Genomic screening efforts that employ opt-in models of genetic counseling may need to clarify the potential value of genetic counseling support from the outset and feature genetic counseling services more prominently in program materials.…”
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Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion by Irene De Biase, Margarita Diaz-Ochu, Mary Rindler, Wendy L. Hobson-Rohrer

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Genetic developmental disability diagnosed in adulthood: a case report by Adam Langenfeld, Lynn Schema, Judith K. Eckerle

“…The patient was referred for further evaluation by a geneticist and genetic counselor. Conclusions This case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. …”
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Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort by Elías Cuesta-Llavona, Rebeca Lorca, Beatriz Díaz-Molina, José L. Lambert-Rodríguez, Julián R. Reguero, Sara Iglesias, Belén Alonso, Alejandro Junco-Vicente, Vanesa Alonso, Eliecer Coto, Juan Gómez

“…Most of them had a family history of cardiac disease, and were thus previously studied as part of a routine screening by a genetic counselor. Pathogenic variants in cases without a family history of cardiac disease were mainly of ischemic origin.…”
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Comparing Gene Panels for Non-Retinal Indications: A Systematic Review by Rebecca Procopio, Jose S. Pulido, Kammi B. Gunton, Zeba A. Syed, Daniel Lee, Mark L. Moster, Robert Sergott, Julie A. Neidich, Margaret M. Reynolds

“…Evidence review: A licensed, certified genetic counselor (RP) used Concert Genetics and the search terms optic atrophy, corneal dystrophy, cataract, glaucoma, anterior segment dysgenesis, microphthalmia/anophthalmia, and nystagmus to identify available testing options performed by CLIA-certified commercial genetic testing laboratories. …”
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Communicating genetic information: a difficult challenge for future pediatricians by Shirsat Pratibha, Rosas-Blum Eduardo, Leiner Marie

“…<p>Abstract</p> <p>Background</p> <p>The role of the pediatrician as genetic counselor is ideal because pediatricians have medical knowledge and experience with genetic disorders (e.g. …”
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Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes by Leslie Bucheit, Katherine Johansen Taber, Kaylene Ready

“…Methods Third-party recorded three-generation pedigrees were retrospectively reviewed by a certified genetic counselor (CGC) to determine if independent events included in pedigree histories met NCCN guidelines, and were then sorted into groups: high risk events (meets criteria) and low risk events (does not meet criteria). …”
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Iatrogenic aortic dissection during aortic root replacement in an older Loeys–Dietz syndrome type III patient with no family history of aortic disease: a case report by Kenichi Kato, Ken Nakamura, Kaho Kato, Shusuke Arai, Shuto Hirooka, Cholsu Kim, Hideaki Uchino, Takao Shimanuki

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Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer by Jeanna M. McCuaig, Susan Randall Armel, Melanie Care, Alexandra Volenik, Raymond H. Kim, Kelly A. Metcalfe

“…The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment. …”
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