Fiona Ulph

Parental and public views on genomic newborn screening: a systematic review

Rachael Sweetland, Fiona Ulph

The potential integration of whole genome sequencing (WGS) into the UK newborn screening programme (NBS) represents a major advancement in population health genomics. Multiple studies have assessed professionals' opinions on the healthcare system's readiness for this change. Parental and public views are …

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Parental Views on the Psychosocial Impact of False-Positive Results Following Newborn Screening for Severe Combined Immunodeficiency in England

Pru Holder, Chloe Musa, Anju Devianee Keetharuth, Fiona Ulph et autres

The project aimed to explore the psychosocial impact on parents of receiving a false-positive outcome following a positive newborn bloodspot screening (NBS) result for SCID for their child. A mixed-methods design was employed using semi-structured interviews and standardised health-related questionnaires (EQ-5D-5L, ITQOL-47, …

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The impact of receiving information from genetic testing for adult adoptees

Stephanie Lyons, Corey Lee, Fiona Ulph

Some young people are taken into the care of their local authority and/or adopted. When these young people meet adulthood, some undergo genetic testing. This may be due to health concerns or to attempt to trace biological relatives. This review and meta-synthesis …

Cascade counselling and testing. Recommendations of the European Society of Human Genetics

Guido M W R de Wert, Carla G. van El, Angus John Clarke, Christophe Cordier et autres

Cascade testing (CT) is an effective instrument for identifying an index patient's relatives at high risk of a heritable condition enabling informed decision-making on preventive interventions and reproductive choice. However, CT remains underutilised and faces barriers. Discussions are ongoing on how to …

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Counseling supervision for genetic counselors: A proposed outsider witness structure

Mariangels Ferrer‐Duch, Fiona Ulph, Elisabet Dachs Cabanas, Glenda Fredman et autres

Counseling supervision for genetic counselors is recognized as an important aspect of professional registration. Professional bodies in countries, including the United States, Australia, and the United Kingdom, have published recommendations for the delivery of counseling supervision covering such things as access and …

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Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah K. B. Bick, Sophia M. Adelson, Nils Gehlenborg et autres

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The feasibility of risk-stratified screening as routine practice in the NHS Breast Screening Programme in England: the PROCAS2 research programme

DAVID P. FRENCH, Lorna McWilliams, Katherine A. Payne, Victoria G. Woof et autres

Background Screening for breast cancer produces benefits through cancers being detected earlier, thereby reducing premature deaths and the need for more intensive treatment. As with all screening, it can also produce harms such as false-positive screening test results. One way to improve …

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Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study

Molly Parfett, Faye Johnson, Rebecca Bennett, Fiona Ulph

Whole Genome Sequencing (WGS) in newborn screening is ethically complex. Parents will provide proxy consent for initial participation and 16-year-olds will be approached to consent to continued storage of their genome. We explored the views of 11-25-year-olds to understand the information needs …

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P403 Communication and management of cystic fibrosis screen positive, inconclusive diagnosis (CFSPID): what have families experienced, and how can they be better supported by healthcare professionals?

Faye Johnson, Fiona Ulph, A. Blaszkiewicz, Rhona MacLeod et autres

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Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions

Edie Bowen, John Langston, Harriet Fletcher, Julia Domek et autres

The benefits and harms of identifying carriers in childhood have long been debated with European Guidelines advising against this practice. Yet over a thousand carriers are identified via newborn bloodspot screening per year in the United Kingdom alone. One of the concerns …

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Exploring NICU nurses' views of a novel genetic point‐of‐care test identifying neonates at risk of antibiotic‐induced ototoxicity: A qualitative study

Georgia Brown, Natalie Warrington, Fiona Ulph, Nicola Booth et autres

AIM: To explore the views of neonatal intensive care nursing staff on the deliverability of a novel genetic point-of-care test detecting a genetic variant associated with antibiotic-induced ototoxicity. DESIGN: An interpretive, descriptive, qualitative interview study. METHODS: Data were collected using semi-structured interviews …

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Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions

Amina Chaouch, Fiona Ulph, Hisham H. M. Hamdalla, John Ealing et autres

Over the past several years, clinicians, patients and families in the UK have witnessed a dramatic change in the way genetic testing is performed, with the introduction of whole genome sequencing (WGS) and the NHS Genomic Test Directory in 2018 [ 1 …

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