Updates on congenital hereditary endothelial dystrophy by Neet Mehta, Anshuman Verma, Divya Sree Achanta, Chitra Kannabiran, Sanhita Roy, Dilip Kumar Mishra, Sunita Chaurasia, Deepak Paul Edward, Muralidhar Ramappa

“…A multidisciplinary approach involving ophthalmologists, researchers, and genetic counselors is essential for precise diagnosis and optimal care for CHED patients.…”
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(Mis)alignments in counseling for Huntington's Disease predictive testing: clients' responses to reflective frames. by Sarangi, S, Bennert, K, Howell, L, Clarke, A, Harper, P, Gray, J

“…J Genet Couns, 13(2), 135-155) examining genetic counselors' initiation of reflective frames, in this paper we analyze the variable ways in which clients respond to such reflective frames in the clinical setting. …”

Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology by Hemant Malhotra, Pradnya Kowtal, Nikita Mehra, Raja Pramank, Rajiv Sarin, Thangarajan Rajkumar, Sudeep Gupta, Ajay Bapna, Gouri Shankar Bhattacharyya, Sabhyata Gupta, Amita Maheshwari, Ashraf U. Mannan, Ravindra Reddy Kundur, Rupinder Sekhon, Manish Singhal, B.K. Smruti, Somashekhar SP, Moushumi Suryavanshi, Amit Verma

“…It discusses the need and significance of genetic counselors and medical professionals who have the necessary expertise in genetic counseling and testing. …”
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The Michigan Genetic Hereditary Testing (MiGHT) study’s innovative approaches to promote uptake of clinical genetic testing among cancer patients: a study protocol for a 3-arm rand... by Lynette Hammond Gerido, Jennifer J. Griggs, Ken Resnicow, Kelley M. Kidwell, Emerson Delacroix, Sarah Austin, Erika N. Hanson, Elizabeth Bacon, Erika Koeppe, Stefanie Goodall, Matthew Demerath, Elizabeth A. Rizzo, Shayna Weiner, Sarah T. Hawley, Wendy R. Uhlmann, J. Scott Roberts, Elena M. Stoffel

“…The study will test two different intervention approaches, both of which can help address the shortage of genetic counselors and improve access to care. Trial registration This study has been approved by the Institutional Review Board of the University of Michigan Medical School (HUM00192898) and registered in ClinicalTrials.gov (NCT05162846).…”
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A mainstreaming oncogenomics model: improving the identification of Lynch syndrome by Rosie O’Shea, Ashley Crook, Chris Jacobs, Maira Kentwell, Maira Kentwell, Margaret Gleeson, Katherine M. Tucker, Heather Hampel, Alanna Kulchak Rahm, Natalie Taylor, Natalie Taylor, Sarah Lewis, Nicole M. Rankin, Nicole M. Rankin

“…The interventions to overcome barriers were as follows: embedded mainstream genetic counselors, electronic medical record genetic test ordering, results tracking, and mainstreaming education resources. …”
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Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich’s ataxia, and other rare iron-related diseases [version 1; peer review: 2 approved] by Gloria C. Ferreira, Jenna Oberstaller, Renée Fonseca, Thomas E. Keller, Swamy Rakesh Adapa, Justin Gibbons, Chengqi Wang, Xiaoming Liu, Chang Li, Minh Pham, Guy W. Dayhoff II, Linh M. Duong, Luis Tañón Reyes, Luciano Enrique Laratelli, Douglas Franz, Segun Fatumo, ATM Golam Bari, Audrey Freischel, Lindsey Fiedler, Omkar Dokur, Krishna Sharma, Deborah Cragun, Ben Busby, Rays H.Y. Jiang

“…Methods: The hackathon was structured to begin each day with presentations by expert clinicians, genetic counselors, researchers focused on molecular and cellular biology, public health/global health, genetics/genomics, computational biology, bioinformatics, biomolecular science, bioengineering, and computer science, as well as guest speakers from the American Porphyria Foundation (APF) and Friedreich’s Ataxia Research Alliance (FARA) to inform participants as to the human impact of these diseases. …”
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Evidence‐based consensus guidelines for ALS genetic testing and counseling by Jennifer Roggenbuck, Breda H. F. Eubank, Joshua Wright, Matthew B. Harms, Stephen J. Kolb, the ALS Genetic Testing and Counseling Guidelines Expert Panel

“…Our primary goal is to develop clinical ALS genetic counseling and testing guidelines to improve and standardize genetic counseling and testing practice among neurologists, genetic counselors or any provider caring for persons with ALS. …”
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Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening by Heike Kölbel, Laura Modler, Astrid Blaschek, Ulrike Schara-Schmidt, Katharina Vill, Oliver Schwartz, Wolfgang Müller-Felber

“…Understanding the parents’ perspective allows genetic counselors and NBS programs to proactively develop a care plan for parents during the challenging time of uncertainty, anxiety, frustration, and fear of the unknown.…”
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Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women by Bing-bo Zhou, Bing-bo Zhou, Xue Chen, Chuan Zhang, Yu-pei Wang, Pan-pan Ma, Sheng-ju Hao, Ling Hui, Yun-fei Bai

“…Our screenings are more meaningful programs in preventing birth defects, providing a significant resource for healthcare professionals, genetic counselors, and policymakers involved in designing strategies to prevent and manage SMA.MethodWe screened 39,647 participants from 2020 to the present by quantitative real-time PCR, including 7,231 pre-pregnancy participants and 32,416 pregnancy participants, to detect the presence of SMN1 gene EX7 and EX8 deletion in the DNA samples provided by the subjects. …”
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Polygenic Risk Scores in Alzheimer's Disease: Current Applications and Future Directions by Emily Baker, Valentina Escott-Price, Valentina Escott-Price

“…It is essential to consult with genetic counselors to ensure genetic risk is communicated appropriately.…”
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Awareness, use, motivations and methods of accessing genetic testing in 2022 in the United States by Sukh Makhnoon, Sukh Makhnoon, MinJae Lee, Tanushree Prasad, Alexa Badalamenti, Tami Gurley, Erika A. Waters, Celette Sugg Skinner

“…Only 10% of tests were ordered by genetic counselors, 80% of carrier and 65% of specific disease tests were ordered by other healthcare providers. …”
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Piloting a Spanish-Language Web-Based Tool for Hereditary Cancer Genetic Testing by Deborah Cragun, Gretter Manso, Stefania Alastre Arcusa, Brenda Zuniga, Julie Dutil, Marcia Cruz, Tuya Pal

“…The delivery of hereditary cancer pre-test education among Spanish-language patients is impeded by the dearth of Spanish-speaking genetic counselors. To address this gap, we evaluated a web-based genetic education tool delivered in Spanish to provide information typically discussed during an initial genetic counseling session. …”
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Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge by Doug Stubbs, Gillian W. Hooker, Yajing Li, Lucas Richter, Alexander Bick

“…Methods: The Vanderbilt PRS-KS was developed by a team of genetic counselors and physicians to cover key conceptual facts pertaining to PRSs. …”
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Defectological practise from the perspective of next generation genetics by Mihajlović Nevenka K., Mihajlović Milica Lj., Mihajlović Ljubiša M.

“…The genetic diagnosis is discovered by a multidiscipline team of experts: genetic counselors, defectologists, doctors and psychologist. …”
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Information needs of Lynch syndrome and BRCA 1/2 mutation carriers considering risk-reducing gynecological surgery: a qualitative study of the decision-making process by Lucy Zhao, Lorrie Lynch, Lua Eiriksson

“…To make an informed decision, women relied most heavily on information provided by healthcare professionals (e.g. doctors, genetic counselors) and family members with prior cancer experience. …”
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Germline BRCA testing in pancreatic cancer: improving awareness, timing, turnaround, and uptake by Talia Golan, Raffaella Casolino, Andrew V. Biankin, Pascal Hammel, Kristen D. Whitaker, Michael J. Hall, Douglas L. Riegert-Johnson

“…Potential solutions include innovative approaches to testing pathways, including ‘mainstreaming’ of testing in which BRCA tests are routinely arranged by the treating oncologist, with the involvement of genetic counselors if a patient is found to have a gBRCAm. …”
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A Case-Based Active Learning Session for Medical Genetics Resources by Hana Anderson, Amy C. Studer, Katharine N. Holm, Ayaka Suzuki

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A Pilot study of the Sharing Risk Information Tool (ShaRIT) for Families with Hereditary Breast and Ovarian Cancer Syndrome by Kardashian Ani, Fehniger Julia, Creasman Jennifer, Cheung Eleanor, Beattie Mary

“…</p> <p>Conclusions</p> <p>Both participants and genetic counselors considered ShaRIT a well-received, comprehensive tool for disseminating individual risk information and clinical care guidelines to Hereditary Breast and Ovarian Cancer Syndrome families. …”
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Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome by Sayoni Lahiri MS, Sara Pirzadeh-Miller MS, Kelsey Moriarty MS, Nisa Kubiliun MD

“…Genetic counseling was provided primarily via telephone. Genetic counselors performed hereditary cancer risk assessment and offered genetic testing via hereditary cancer panels to those eligible. …”
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Risk factor analysis for congenital heart defects in children by I. V. Lastivka, V. P. Pishak, М. О. Ryznychuk, Т. V. Khmara

“…This article is expected to provide timely information on risk factors for CHD development to a wide range of medical staff, including pediatric and adult cardiologists, pediatricians, thoracic surgeons, obstetricians, gynecologists, medical geneticists, genetic counselors and other relevant clinicians.…”
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