Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders
Year: 2024
Type: article
Abstract: Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study. Methods: = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision. Results: Outcomes were recorded for 4237 diagnosed probands (85% of those eligible) from all 24 recruiting centers across the United Kingdom and Ireland. Clinical management was reported to have changed in 28% of affected individuals. Where individual-level interventions were recorded, additional diagnostic or screening tests were started in 903 (21%) probands through referral to a range of different clinical specialties, and stopped or avoided in a further 26 (0.6%). Disease-specific treatment was started in 85 (2%) probands, including seizure-control medications and dietary supplements, and contra-indicated medications were stopped or avoided in a further 20 (0.5%). The option of prenatal/preimplantation genetic testing was discussed with 1204 (28%) families, despite the relatively advanced age of the parents at the time of diagnosis. Importantly, condition-specific information or literature was given to 3214 (76%) families, and 880 (21%) were involved in family support groups. In the most common condition (KBG syndrome; 79 [2%] probands), clinical interventions only partially reflected the temporal development of phenotypes, highlighting the importance of consensus management guidelines and patient support groups. Conclusion: Our results underscore the importance of achieving a clinico-molecular diagnosis to ensure timely onward referral of patients, enabling appropriate care and anticipatory surveillance, and for accessing relevant patient support groups.
Source: Genetics in Medicine Open
Authors: Harriet Copeland, Karen J. Low, Sarah L. Wynn, Ayesha Ahmed, Victoria Arthur, Meena Balasubramanian, Katya Bennett, Jonathan Berg, Marta Bertoli, Lisa Bryson, Catrin Bucknall, Jamie Campbell, Kate Chandler, Jaynee Chauhan, Amy Clarkson, Rachel Coles, Hector Conti, Philandra Costello, Tessa Coupar, Amy Craig, John Dean, Amy Dillon, Abhijit Dixit, Kathryn Drew, Jacqueline Eason, Francesca Forzano, Nicola Foulds, Alice Gardham, Neeti Ghali, Andrew Green, William Hanna, Rachel Harrison, Mairead Hegarty, Jenny Higgs, Muriel Holder, Rachel Irving, Vani Jain, Katie Johnson, Rachel Jolley, Wendy D. Jones, Gabriela Jones, Shelagh Joss, Ruta Kalinauskiene, Farah Kanani, Karl Kavanagh, Mahmudur Khan, Naz Khan, Emma Kivuva, Nayana Lahiri, Neeta Lakhani, Anne Lampe, Sally Ann Lynch, Sahar Mansour, Alice Marsden, Hannah Massey, Shane McKee, Shehla Mohammed, Swati Naik, Mithushanaa Nesarajah, Ruth Newbury-Ecob, Fiona Osborne, Michael J. Parker, Jenny Patterson, Caroline Pottinger, Matina Prapa, Katrina Prescott, Shauna Quinn, Jessica A. Radley, Sarah Robart, Alison Ross, Giulia Rosti, Francis H. Sansbury, Ajoy Sarkar, Claire Searle, Nora Shannon, Debbie Shears, Sarah Smithson, Helen Stewart, Mohnish Suri, Shereen Tadros, Rachel Theobald, Rhian Thomas, Olga Tsoulaki, Pradeep Vasudevan, Maribel Verdesoto Rodriguez, Emma Vittery, Sinead Whyte, Emily Woods, Thomas Wright, David Zocche, Helen V. Firth, Caroline F. Wright
Institutions: Royal Devon University Healthcare NHS Foundation Trust, University of Bristol, St Michael's Hospital, St Mary's Hospital, Sheffield Children's NHS Foundation Trust, Liverpool Women's Hospital, Ninewells Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Centre for Life, Newcastle upon Tyne Hospital, Queen Elizabeth University Hospital, Aberdeen Royal Infirmary, Chapel Allerton Hospital, London North West Healthcare NHS Trust, Northwick Park Hospital, Princess Anne Hospital, St George’s University Hospitals NHS Foundation Trust, Nottingham City Hospital, Birmingham Women's Hospital, Guy's Hospital, Children's Health Ireland at Crumlin, Belfast City Hospital, Great Ormond Street Hospital, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Western General Hospital, Addenbrooke's Hospital, Churchill Hospital, University of Oxford, Wellcome Sanger Institute, University of Exeter
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
Awards: G2493601830, G2537968379, Primary Annotated Resources to Advance Discovery In Genomic Medicine (PARADIGM), “We know so much so use us!!” - Improving the treatment for children with GENetic Rare disease: Observational Cohort study (GenROC), G3724418959, G4612446324, Deciphering Developmental Disorders, G5823484770, G8920760558
OpenAlex ID: W4403402638