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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Haplotype Analysis in Carriers of β-Globin Gene Mutation Facil-itates Genetic Counseling in β-Thalassemia: A Cross-Sectional Study in Kerman Province, Iran by Nasrollah SALEH-GOHARI, Kolsoum SAEIDI, Sima ZIAADINI-DASHTKHAKI

“…In this regards, database of β-globin gene haplotypes facilitates mutation detection of the gene and helps genetic counselors to reach the goals of β-thalassemia prevention program. …”
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Social and Communicative Functions of Informed Consent Forms in East Asia and Beyond by Go, Yoshizawa, Sasongko, Teguh H., Ho, Chih Hsing, Kato, Kazuto

“…More than simply tools to gain consent from research participants, ICFs function rather as a device of social communication between research communities and civic communities in liaison with intermediary agents like ethics committees, genetic counselors, and public biobanks and databases.…”
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Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory by Paige Hartman, Kenneth Beckman, Kevin Silverstein, Sophia Yohe, Matthew Schomaker, Christine Henzler, Getiria Onsongo, Ham Ching Lam, Sarah Munro, Jerry Daniel, Bradley Billstein, Archana Deshpande, Adam Hauge, Pawel Mroz, Whiwon Lee, Jennifer Holle, Katie Wiens, Kylene Karnuth, Teresa Kemmer, Michaela Leary, Stephen Michel, Laurie Pohlman, Venugopal Thayanithy, Andrew Nelson, Matthew Bower, Bharat Thyagarajan

“…A single hybrid capture library preparation was used for each test ordered, data was informatically blinded to clinically-ordered genes, and identified variants were reviewed and classified by genetic counselors and molecular pathologists. We performed 2509 sequencing tests from August 2012 till December 2017. …”
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Assessing the state of care for Huntington disease in the United States: Results from a survey of practices treating Huntington disease patients by Lauren Seeberger, Jody Corey-Bloom, Michael O'Brien, Diana Slowiejko, Danielle Schlang, Marika S. Booth, Beth Ann Griffin, Peggy G. Chen

“…Increased HD practice size was associated with higher rates of pre-visit screenings, care navigator/care coordinators, routine monitoring of weight, and provision of genetic counseling by genetic counselors. Conclusions: Not surprisingly, we found that HD care was inconsistently applied across the US. …”
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DataGenno: building a new tool to bridge molecular and clinical genetics by Fabricio F Costa, Luciano S Foly, Marcelo P Coutinho

“…In conclusion, we believe that DataGenno&amp;#39;s portal will be a helpful and innovative tool for health care professionals, scientists, genetic counselors, and other professionals in the clinical genetics field.Keywords: genetic diseases, signs and symptoms, molecular genetics, genomics, search engine, database…”
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Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals by Juan de Dios García-Díaz, Mónica López-Rodríguez, Montserrat Morales-Conejo, Antoni Riera-Mestre, Minority Diseases Working Group from the Spanish Society of Internal Medicine

“…Overall, patients and HCPs agreed on the priority UNs, such as accelerating diagnosis, reducing bureaucracy for the treatment access and a more coordinated attention for the patients, not only among different physicians but also with other professionals such as genetic counselors or social workers. Conclusions Our data shows that there are still UNs to be addressed from the perspective of patients and HCPs. …”
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Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example by Kari Hemminki, Aayushi Srivastava, Sivaramakrishna Rachakonda, Obul Bandapalli, Eduardo Nagore, Akseli Hemminki, Rajiv Kumar

“…If a particular mutation has not been reported in reliable family studies, genetic counselors are facing a dilemma of appropriately informing patients. …”
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Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals’ views from Lebanon and Quebec by Hazar Haidar, Meredith Vanstone, Anne-Marie Laberge, Gilles Bibeau, Labib Ghulmiyyah, Vardit Ravitsky

“…Methods We conducted semi-structured interviews with 20 healthcare professionals (HCPs), 10 from each country, practicing in the field of prenatal screening and follow up diagnostic testing, including obstetricians and gynecologists, nurses, medical geneticists and, genetic counselors. We aimed to 1) explore HCPs’ perceptions and views regarding issues raised by NIPT and 2) to shed light on ways in which the introduction of the same technology (NIPT) in two different contexts (Lebanon and Quebec) raises common and different challenges that are influenced by the cultural norms and legal policies in place. …”
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Stigma manifestations in cardiomyopathy care impact outcomes for black patients: a qualitative study by Morgan Wolfgang, Laura Beskow, Gillian Hooker, Mya Roberson, Katherine Anderson

“…Results More than half of participants reported intersectional stigma manifestations related to their race, age, and/or weight while receiving care from cardiologists, nurse practitioners, genetic counselors, or clinical support staff. Stigma manifestations included physical roughness during patient care, withholding diagnostically-relevant information from the patient, impersonal care, coercion, and use of offensive stereotyped language by providers. …”
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334 Web-based Methods for Family Health History Collection by Michelle Nguyen, Joao Sedoc, Casey Overby Taylor

“…With a more usable and engaging tool, we can maximize rates of collection and support both patients and genetic counselors by ensuring features align with shared-decision-making frameworks.…”
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<i>Clin.iobio</i>: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics by Alistair Ward, Matt Velinder, Tonya Di Sera, Aditya Ekawade, Sabrina Malone Jenkins, Barry Moore, Rong Mao, Pinar Bayrak-Toydemir, Gabor Marth

“…In most diagnostic settings, a team of experts contribute to these reports, including bioinformaticians, clinicians, and genetic counselors, among others. However, these experts often do not have the necessary tools to review genomic findings, test genetic hypotheses, or query specific gene and variant information. …”
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Mobile-Based and Self-Service Tool (iPed) to Collect, Manage, and Visualize Pedigree Data: Development Study by Chen Sun, Jing Xu, Junxian Tao, Yu Dong, Haiyan Chen, Zhe Jia, Yingnan Ma, Mingming Zhang, Siyu Wei, Guoping Tang, Hongchao Lyu, Yongshuai Jiang

“…A self-service robot could inquire about patients' family history in place of professional clinicians or genetic counselors. ObjectiveThe aim of this study was to develop a mobile-based and self-service tool to collect and visualize pedigree data, not only for professionals but also for those who know little about genetics. …”
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Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study by Boya Guo, Sarah Knerr, Tia L. Kauffman, Kathleen F. Mittendorf, Erin Keast, Marian J. Gilmore, Heather Spencer Feigelson, Frances L. Lynch, Kristin R. Muessig, Sonia Okuyama, Jamilyn M. Zepp, David L. Veenstra, Li Hsu, Amanda I. Phipps, Sara Lindström, Michael C. Leo, Katrina A. B. Goddard, Benjamin S. Wilfond, Beth Devine, the CHARM Study team

“…We examined utilization in participants who did and did not receive actionable risk management recommendations from study genetic counselors following national guidelines. Results CHARM participants were followed for an average of 15.4 months (range: 0.4–27.8 months) after results disclosure. …”
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Challenges to effective and autonomous genetic testing and counseling for ethno-cultural minorities: a qualitative study by Nehama Cohen-Kfir, Miriam Ethel Bentwich, Andrew Kent, Nomy Dickman, Mary Tanus, Basem Higazi, Limor Kalfon, Mary Rudolf, Tzipora C. Falik-Zaccai

“…Methods We used a qualitative research method, employing individual interviews with 18 women of childbearing age from three religious subgroups (i.e., Druze, Muslim, and Christian) who reside in the Acre district, along with focus group discussions with healthcare providers (HCPs; 9 nurses and 7 genetic counselors) working in the same geographical district. …”
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Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil by Mariluce Riegel, Nathália Barcellos, Rafaella Mergener, Karen Regina Silva de Souza, Júlio César Loguercio Leite, Rejane Gus, Lilia Maria Azevedo Moreira, Roberto Giugliani

“…Conclusion: Our study reinforces the idea that the effort to improve the capacity to perform molecular cytogenetic investigations associated with a qualified clinical evaluation is crucial for the detection and precise characterization of submicroscopic chromosome deletions, bringing benefits to patients, relatives, and genetic counselors. It also contributes to the continuing education of cytogeneticists and to the knowledge of chromosomal rearrangements associated with genomic disorders.…”
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A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing by Qiongling Peng, Yan Zhang, Binqiang Xian, Lianying Wu, Lianying Wu, Jianying Ding, Wuwu Ding, Xin Zhang, Bilan Ding, Ding Li, Jin Wu, Xiaowu Hu, Guanting Lu, Guanting Lu

“…Current investigation would broaden the knowledge for clinicians and genetic counselors and remind them to interpret those synonymous or predicted “benign” variants more carefully.…”
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