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Genetic counseling

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe

Anna Fernandez-Falgueras, Monica Coll, Anna Iglesias, Coloma Tiron, Oscar Campuzano, Ramon Brugada

published 01 May 2024

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The role of community engagement in promoting research participants’ understanding of pharmacogenomic research results: Perspectives of stakeholders involved in HIV/AIDS research and treatment

Sylvia Nabukenya, David Kyaddondo, Ian Guyton Munabi, Catriona Waitt, Adelline Twimukye, Erisa S. Mwaka

published 02 Apr 2024

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The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling

Andrew D. Paterson, Sang-Cheol Seok, Veronica J. Vieland

published 21 Sep 2023

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Clients’ and genetic counselors’ perceptions of empathy in Japan: A pilot study of simulated consultations of genetic counseling

Chikako Tomozawa, Mikiko Kaneko, Motoko Sasaki, Hidehiko Miyake

published 19 Jul 2023

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Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma

Clare A. Primiero, Anna Finnane, Tatiane Yanes, Betsy Peach, H. Peter Soyer, Aideen M. McInerney-Leo

published 07 Dec 2022

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Feedback of individual genetic and genomics research results: A qualitative study involving grassroots communities in Uganda

Joseph Ochieng, Betty Kwagala, John Barugahare, Marlo Möller, Keymanthri Moodley

published 18 Nov 2022

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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F. Hasholt, Flemming Wibrand, Soren S. Sorensen, Allan M. Lund, Lars Kober, Henning Bundgaard, Puriya D. W. Yazdanfard, Peter Oturai, Vibeke A. Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen

published 16 Nov 2022

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Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies

Violaine Peyronnet, Olivia Anselem, Laurence Loeuillet, Nathalie Roux, Vassilis Tsatsaris

published 19 Oct 2022

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Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service

Objoon Trachoo, Teerapat Yingchoncharoen, Tawai Ngernsritrakul, Nareenart Iemwimangsa, Bhakbhoom Panthan, Sommon Klumsathian, Sasima Srisukh, Anucha Mukdadilok, Sithakom Phusanti, Angkana Charoenyingwattana, Takol Chareonsirisuthigul, Wasun Chantratita, Tarinee Tangcharoen

published 27 Sep 2022

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Perspectives and experiences of researchers regarding feedback of incidental genomic research findings: A qualitative study

Joseph Ochieng, Betty Kwagala, John Barugahare, Erisa Mwaka, Deborah Ekusai-Sebatta, Joseph Ali, Nelson K. Sewankambo

published 29 Aug 2022

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Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk

Heamanthaa Padmanabhan, Nur Tiara Hassan, Siu-Wan Wong, Yong-Quan Lee, Joanna Lim, Siti Norhidayu Hasan, Cheng-Har Yip, Soo-Hwang Teo, Meow-Keong Thong, Nur Aishah Mohd Taib, Sook-Yee Yoon

published 15 Feb 2022

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Applying citizen science to engage families affected by ovarian cancer in developing genetic service outreach strategies

Colleen M. McBride, Gavin P. Campbell, Jingsong Zhao, Rebecca D. Pentz, Cam Escoffery, Michael Komonos, Kelly Cannova, Janice L. B. Byrne, Nancy M. Paris, James R. Shepperd, Yue Guan

published 14 Feb 2022

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Assessing women’s preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design

Jennifer Hammond, Jasmijn E. Klapwijk, Sam Riedijk, Stina Lou, Kelly E. Ormond, Ida Vogel, Lisa Hui, Emma-Jane Sziepe, James Buchanan, Charlotta Ingvoldstad-Malmgren, Maria Johansson Soller, Eleanor Harding, Melissa Hill, Celine Lewis

published 28 Jan 2022

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