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Articles by Christine Patch
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project - European Journal of Human Genetics
Abstract We used cross-sectional surveys to compare the knowledge, attitudes, and decision regret of participants who had consented for genome sequencing (GS) for rare disease diagnosis in the 100,000 Genomes Project (100kGP) across two timepoints (at the time of consenting for GS (T1) and 12–18 months later (T2)).
Implications for paediatric biobanks of professional guidelines on genetic testing in children
The discovery of the Huntingtin gene in 1993 meant that accurate predictive or pre-symptomatic genetic testing for Huntington's disease was possible. This single-gene adult-onset neurodegenerative condition is dominant and highly penetrant. Meaning that if a person has the gene variant then they will develop the condition. There would also be a 50 percent chance of any of their children inheriting the altered gene.
The legacy of language: What we say, and what people hear, when we talk about genomics
Summary The way we “talk” about genetics plays a vital role in whether public audiences feel at ease in having conversations about it. Our research explored whether there was any difference between “what we say” and “what people hear” when providing information about genetics to community groups who are known to be missing from genomics datasets.
The genetic counsellor role in the United Kingdom - European Journal of Human Genetics
Overview of the profession Genetic counsellors are an internationally recognised group of highly skilled healthcare professionals with training and expertise in genomic medicine and counselling skills [1, 2]. The United Kingdom (UK) is a leader in developing the profession and has established the gold standard for genetic counselling emulated across Europe and elsewhere around the world [3, 4].
Whole-genome sequencing reveals host factors underlying critical COVID-19 - Nature
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Abstract Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms.
By Athanasios Kousathanas, Erola Pairo-Castineira, Konrad Rawlik, Susan Walker, Tomas Malinauskas, Yang Wu, Xia Shen, Katherine Elliott, Bo Wang, Lucija Klaric, Nick Parkinson, Alistair Nichol, Malcolm G Semple, Julian Knight, Christine Patch, Aris Baras, Goncalo Abecasis, Daniel Rader, Marylyn D. Ritchie, Manu Shankar-Hari, Charlotte Summers, Danny F McAuley, Hugh Montgomery, Paul Elliott, Albert Tenesa, Lee Murphy, Kathy Rowan, Chris P. Ponting, Veronique Vitart, James WIlson, James Wilson, Jian Yang, Andrew Bretherick, Loukas Moutsianas, Andy Law, J. Kenneth Baillie, Shahla Salehi, Greg Elgar, Charles Hinds, GenOmicc investigators, Sara Clohisey Hendry
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Nature
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The family transition experience when living with childhood neuromuscular disease: A grounded theory study
ORIGINAL RESEARCH: EMPIRICAL RESEARCH ‐ QUALITATIVE Veronika Waldboth Corresponding Author veronika.waldboth@zhaw.ch orcid.org/https://orcid.org/0000-0003-2785-3241 Institute of Nursing, Zurich University of Applied Sciences, Winterthur, Switzerland Florence Nightingale Faculty of Nursing and Midwifery, Kings College London, London, UK Correspondence Veronika Waldboth, Zurich University of Applied Sciences, Institute of Nursing, Winterthur, Switzerland.
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