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  1. Article ; Online: Massive open online courses (MOOCs) in genomic variant interpretation: An innovative education strategy for the growing genetic counselor workforce.

    Coad, Beth / Joekes, Katherine / Rudnicka, Alicja / Frost, Amy / Tatton-Brown, Katrina / Snape, Katie

    Journal of genetic counseling

    2023  Volume 33, Issue 1, Page(s) 142–150

    Abstract: The growth in genomic testing in healthcare requires a highly trained specialist workforce to ensure evidence based clinical germline variant interpretation. Genetic counselors form a core part of the clinical genomics multidisciplinary team (MDT) and ... ...

    Abstract The growth in genomic testing in healthcare requires a highly trained specialist workforce to ensure evidence based clinical germline variant interpretation. Genetic counselors form a core part of the clinical genomics multidisciplinary team (MDT) and represent a growing workforce participating in variant interpretation from data analysis to the patient consultation. Standardized, high-quality variant interpretation training for Genetic Counselors has historically been ad hoc and variable, with existing programs lacking capacity to reach the entire workforce. To address the requirement for scalable variant interpretation training for genomics healthcare professionals (HCPs), two Massive Open Online Courses (MOOCs) were developed. We analyzed the data from 17 Genetic counselors, as part of an evaluation cohort completing the first run of these MOOCs. Overall genetic counselors enjoyed the courses, felt they were clinically relevant and would recommend them to colleagues. Common challenges amongst the genetic counseling workforces included utilizing relevant databases and finding time in the workday to complete training. These findings suggest MOOCs could be an acceptable option to ensure a consistent and transferrable high standard of training, complimentary to existing curricula. They also hold the potential to facilitate large-scale education to update the genetic counseling workforce when changes in variant interpretation guidance occur.
    MeSH term(s) Humans ; Counselors ; Education, Distance ; Educational Status ; Workforce ; Genomics
    Language English
    Publishing date 2023-11-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1117799-8
    ISSN 1573-3599 ; 1059-7700
    ISSN (online) 1573-3599
    ISSN 1059-7700
    DOI 10.1002/jgc4.1837
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.

    Poole, Rebecca L / Bijlsma, Emilia K / Houge, Gunnar / Jones, Gabriela / Mikštienė, Violeta / Preikšaitienė, Eglė / Thompson, Louise / Tatton-Brown, Katrina

    Clinical dysmorphology

    2023  Volume 32, Issue 2, Page(s) 49–54

    Abstract: Potocki-Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the plant homeodomain finger protein 21A (PHF21A) gene. PHF21A has an important role in epigenetic regulation and ... ...

    Abstract Potocki-Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the plant homeodomain finger protein 21A (PHF21A) gene. PHF21A has an important role in epigenetic regulation and PHF21A variants have previously been associated with a specific disorder that, whilst sharing some features of PSS, has notable differences. This study aims to expand the phenotype, particularly in relation to overgrowth, associated with PHF21A variants. Analysis of phenotypic data was undertaken on 13 individuals with PHF21A constitutional variants including four individuals described in the current series. Of those individuals where data were recorded, postnatal overgrowth was reported in 5/6 (83%). In addition, all had both an intellectual disability and behavioural issues. Frequent associations included postnatal hypotonia (7/11, 64%); and at least one afebrile seizure episode (6/12, 50%). Although a recognizable facial gestalt was not associated, subtle dysmorphic features were shared amongst some individuals and included a tall broad forehead, broad nasal tip, anteverted nares and full cheeks. We provide further insight into the emerging neurodevelopmental syndrome associated with PHF21A disruption. We present some evidence that PHF21A might be considered a new member of the overgrowth-intellectual disability syndrome (OGID) family.
    MeSH term(s) Humans ; Intellectual Disability ; Epigenesis, Genetic ; Neurodevelopmental Disorders ; Face ; Homeodomain Proteins ; Syndrome ; Histone Deacetylases
    Chemical Substances Homeodomain Proteins ; PHF21A protein, human (EC 3.5.1.-) ; Histone Deacetylases (EC 3.5.1.98)
    Language English
    Publishing date 2023-02-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0000000000000455
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Mainstreaming of genomics in oncology: a nationwide survey of the genomics training needs of UK oncologists.

    Tutika, Rippie K / Bennett, James A / Abraham, Jean / Snape, Katie / Tatton-Brown, Katrina / Kemp, Zoe / Copson, Ellen / Openshaw, Mark R

    Clinical medicine (London, England)

    2023  Volume 23, Issue 1, Page(s) 9–15

    Abstract: Objective: Genomics is rapidly changing treatment paradigms for cancers, obligating oncologists to have good genomics knowledge. Through this survey, we aimed to assess the current understanding of cancer genomics among UK oncologists.: Methods: We ... ...

    Abstract Objective: Genomics is rapidly changing treatment paradigms for cancers, obligating oncologists to have good genomics knowledge. Through this survey, we aimed to assess the current understanding of cancer genomics among UK oncologists.
    Methods: We conducted a web-based nation-wide self-assessment survey of the cancer genomics knowledge of UK clinical and medical oncology trainees and consultants.
    Results: In total, 150 oncologists (81 consultants and 69 trainees) responded, representing 10% of UK oncologists.Formal training in genomics had not been received by 38.7% of oncologists and 92.7% identified a need for additional genomics training.In total, 71.3% self-reported to have good knowledge of defining somatic and germline mutations, falling to 35.3% for understanding principles of gene expression and regulation. Knowledge of cancer-predisposing syndromes was highest for Lynch syndrome (40.7% good knowledge) and lowest for multiple endocrine neoplasia (14.0% good knowledge).Overall, 49.0% of respondents had consented patients for germline testing, but 80.7% reported a lack of training in genetic counselling.
    Conclusion: Large knowledge gaps have been identified through this survey, highlighting the need for incorporation of improved formal training in cancer genomics for consultants and trainees, with an aim to equip oncologists for advances in clinical practice and to take up genetic mainstreaming confidently.
    MeSH term(s) Humans ; Medical Oncology/education ; Genomics ; Surveys and Questionnaires ; Oncologists ; Neoplasms/genetics ; Neoplasms/therapy ; United Kingdom
    Language English
    Publishing date 2023-01-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 2048646-7
    ISSN 1473-4893 ; 1470-2118
    ISSN (online) 1473-4893
    ISSN 1470-2118
    DOI 10.7861/clinmed.2022-0372
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce.

    Coad, Beth / Joekes, Katherine / Rudnicka, Alicja / Frost, Amy / Openshaw, Mark Robert / Tatton-Brown, Katrina / Snape, Katie

    BMC medical education

    2023  Volume 23, Issue 1, Page(s) 540

    Abstract: Background: The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic variants of ... ...

    Abstract Background: The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic variants of uncertain significance (VUS). The rigorous process of interpreting these variants requires multi-disciplinary, highly trained healthcare professionals (HCPs). To meet this training need, we designed two Massive Open Online Courses (MOOCs) for HCPs involved in germline genomic testing pathways: Fundamental Principles (FP) and Inherited Cancer Susceptibility (ICS).
    Methods: An evaluation cohort of HCPs involved in genomic testing were recruited, with additional data also available from anonymous self-registered learners to both MOOCs. Pre- and post-course surveys and in-course quizzes were used to assess learner satisfaction, confidence and knowledge gained in variant interpretation. In addition, granular feedback was collected on the complexity of the MOOCs to iteratively improve the resources.
    Results: A cohort of 92 genomics HCPs, including clinical scientists, and non-genomics clinicians (clinicians working in specialties outside of genomics) participated in the evaluation cohort. Between baseline and follow-up, total confidence scores improved by 38% (15.2/40.0) (95% confidence interval [CI] 12.4-18.0) for the FP MOOC and 54% (18.9/34.9) (95%CI 15.5-22.5) for the ICS MOOC (p < 0.0001 for both). Of those who completed the knowledge assessment through six summative variant classification quizzes (V1-6), a mean of 79% of respondents classified the variants such that correct clinical management would be undertaken (FP: V1 (73/90) 81% Likely Pathogenic/Pathogenic [LP/P]; V2 (55/78) 70% VUS; V3 (59/75) 79% LP/P; V4 (62/72) 86% LP/LP. ICS: V5 (66/91) 73% VUS; V6 (76/88) 86% LP/P). A non-statistically significant higher attrition rate was seen amongst the non-genomics workforce when compared to genomics specialists for both courses. More participants from the non-genomics workforce rated the material as "Too Complex" (FP n = 2/7 [29%], ICS n = 1/5 [20%]) when compared to the specialist genomics workforce (FP n = 1/43 [2%], ICS n = 0/35 [0%]).
    Conclusions: After completing one or both MOOCs, self-reported confidence in genomic variant interpretation significantly increased, and most respondents could correctly classify variants such that appropriate clinical management would be instigated. Genomics HCPs reported higher satisfaction with the level of content than the non-genomics clinicians. The MOOCs provided foundational knowledge and improved learner confidence, but should be adapted for different workforces to maximise the benefit for clinicians working in specialties outside of genetics.
    MeSH term(s) Humans ; Education, Distance ; State Medicine ; Learning ; Feedback ; Health Personnel/education
    Language English
    Publishing date 2023-07-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 2044473-4
    ISSN 1472-6920 ; 1472-6920
    ISSN (online) 1472-6920
    ISSN 1472-6920
    DOI 10.1186/s12909-023-04406-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Unusual association of Mayer-Rokitansky-Küster-Hauser and Sotos syndromes: a case report.

    Cattoni, Alessandro / Albanese, Assunta / Tatton-Brown, Katrina

    Clinical dysmorphology

    2019  Volume 28, Issue 3, Page(s) 157–159

    MeSH term(s) 46, XX Disorders of Sex Development/physiopathology ; Adolescent ; Amenorrhea ; Congenital Abnormalities/physiopathology ; Female ; Humans ; Mullerian Ducts/abnormalities ; Mullerian Ducts/physiopathology ; Sotos Syndrome/physiopathology ; Vagina
    Language English
    Publishing date 2019-03-28
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0000000000000273
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes.

    Lane, Chloe / Tatton-Brown, Katrina / Freeth, Megan

    Developmental medicine and child neurology

    2019  Volume 62, Issue 8, Page(s) 993–998

    Abstract: ... and adaptive behaviour in Tatton-Brown-Rahman syndrome (TBRS). The sample included 18 individuals ... ADDS: Tatton-Brown-Rahman syndrome is associated with intellectual disability and impaired adaptive ...

    Abstract The aim of this case series was to assess and characterize cognitive abilities, autistic traits, and adaptive behaviour in Tatton-Brown-Rahman syndrome (TBRS). The sample included 18 individuals with a clinical and genetic diagnosis of TBRS (11 males, seven females; mean age 17y 7mo, SD 9y 5mo, range 7y 2mo-33y 10mo). The British Ability Scales, Third Edition and the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) were administered to all participants. The Social Responsiveness Scale, Second Edition and the Vineland Adaptive Behaviour Scales, Third Edition were completed by a parent/caregiver. The majority of participants (n=15) had intellectual disability and General Conceptual Ability scores ranged from 39 to 76 (mean 53.17, SD 12.13). Participants displayed a profile of better verbal ability compared with non-verbal reasoning ability and spatial ability. Autistic traits were prevalent and eight participants scored above the cut-off on the ADOS-2, although symptoms were less pronounced in older individuals. Adaptive functioning was impaired but commensurate with intellectual ability. Overall, TBRS is associated with an uneven cognitive profile and a high prevalence of autistic traits. This has implications for identifying appropriate services and support that may be beneficial for individuals with TBRS. WHAT THIS PAPER ADDS: Tatton-Brown-Rahman syndrome is associated with intellectual disability and impaired adaptive functioning. Autistic traits were prevalent within the sample. Lower intellectual ability and adaptive behaviour were associated with greater severity of autistic traits.
    MeSH term(s) Adolescent ; Autism Spectrum Disorder/complications ; Autism Spectrum Disorder/psychology ; Cognition ; Female ; Growth Disorders/complications ; Growth Disorders/psychology ; Humans ; Intellectual Disability/complications ; Intellectual Disability/psychology ; Male ; Neuropsychological Tests ; Phenotype ; Syndrome
    Language English
    Publishing date 2019-12-17
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/dmcn.14426
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Genetics of Growth Disorders-Which Patients Require Genetic Testing?

    Argente, Jesús / Tatton-Brown, Katrina / Lehwalder, Dagmar / Pfäffle, Roland

    Frontiers in endocrinology

    2019  Volume 10, Page(s) 602

    Abstract: The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session ... ...

    Abstract The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled
    Language English
    Publishing date 2019-09-06
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2019.00602
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce

    Beth Coad / Katherine Joekes / Alicja Rudnicka / Amy Frost / Mark Robert Openshaw / Katrina Tatton-Brown / Katie Snape

    BMC Medical Education, Vol 23, Iss 1, Pp 1-

    2023  Volume 12

    Abstract: Abstract Background The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic ... ...

    Abstract Abstract Background The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic variants of uncertain significance (VUS). The rigorous process of interpreting these variants requires multi-disciplinary, highly trained healthcare professionals (HCPs). To meet this training need, we designed two Massive Open Online Courses (MOOCs) for HCPs involved in germline genomic testing pathways: Fundamental Principles (FP) and Inherited Cancer Susceptibility (ICS). Methods An evaluation cohort of HCPs involved in genomic testing were recruited, with additional data also available from anonymous self-registered learners to both MOOCs. Pre- and post-course surveys and in-course quizzes were used to assess learner satisfaction, confidence and knowledge gained in variant interpretation. In addition, granular feedback was collected on the complexity of the MOOCs to iteratively improve the resources. Results A cohort of 92 genomics HCPs, including clinical scientists, and non-genomics clinicians (clinicians working in specialties outside of genomics) participated in the evaluation cohort. Between baseline and follow-up, total confidence scores improved by 38% (15.2/40.0) (95% confidence interval [CI] 12.4–18.0) for the FP MOOC and 54% (18.9/34.9) (95%CI 15.5–22.5) for the ICS MOOC (p < 0.0001 for both). Of those who completed the knowledge assessment through six summative variant classification quizzes (V1–6), a mean of 79% of respondents classified the variants such that correct clinical management would be undertaken (FP: V1 (73/90) 81% Likely Pathogenic/Pathogenic [LP/P]; V2 (55/78) 70% VUS; V3 (59/75) 79% LP/P; V4 (62/72) 86% LP/LP. ICS: V5 (66/91) 73% VUS; V6 (76/88) 86% LP/P). A non-statistically significant higher attrition rate was seen amongst the non-genomics workforce when compared to genomics specialists for both courses. More participants from the ...
    Keywords Genomics education ; MOOCs ; Online learning ; Genomic variants ; Cancer genomics ; Special aspects of education ; LC8-6691 ; Medicine ; R
    Subject code 028
    Language English
    Publishing date 2023-07-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Approach to overgrowth syndromes in the genome era.

    Burkardt, Deepika D / Tatton-Brown, Katrina / Dobyns, William / Graham, John M

    American journal of medical genetics. Part C, Seminars in medical genetics

    2019  Volume 181, Issue 4, Page(s) 483–490

    Abstract: This introduction to the special issue of AJMG Part C: Overgrowth Syndromes updates the current understanding of overgrowth syndromes. We clarify the terminology associated with overgrowth, review some common pathways to overgrowth and present a ... ...

    Abstract This introduction to the special issue of AJMG Part C: Overgrowth Syndromes updates the current understanding of overgrowth syndromes. We clarify the terminology associated with overgrowth, review some common pathways to overgrowth and present a preliminary classification based on currently known genomic and epigenetic mechanisms. We introduce the articles of this issue-new research and reviews of well-established and recently described overgrowth syndromes of the brain, body or both.
    MeSH term(s) Brain/growth & development ; Growth Disorders/genetics ; Humans ; Syndrome
    Language English
    Publishing date 2019-12-02
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31757
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Molecular mechanisms of childhood overgrowth.

    Tatton-Brown, Katrina / Weksberg, Rosanna

    American journal of medical genetics. Part C, Seminars in medical genetics

    2013  Volume 163C, Issue 2, Page(s) 71–75

    Abstract: This issue of the Seminar Series C is dedicated to the molecular mechanisms of childhood overgrowth and celebrates the last decade of unprecedented gene discovery. Constitutional gene disorders, somatic gene disorders and imprinting dysregulation are ... ...

    Abstract This issue of the Seminar Series C is dedicated to the molecular mechanisms of childhood overgrowth and celebrates the last decade of unprecedented gene discovery. Constitutional gene disorders, somatic gene disorders and imprinting dysregulation are each considered. The constitutional overgrowth genes discussed include NSD1, EZH2, GPC3, DIS3L2, and PTEN whilst the somatic overgrowth genes include AKT3, PIK3R2, and PIK3CA. Abnormalities of imprinting, exemplified by disruption of the (epi)genetic regulation of the imprinted 11p15 gene cluster, constitutes the final section of this issue. Many of the genes discussed in this issue encode components of the PI3K/mTOR growth regulatory pathway. This signaling cascade consists of dual, parallel branches, anchored by the serine-threonine kinase, mTOR, and has diverse downstream effects including inhibition of apoptosis, activation of protein synthesis, and enhanced cell survival. Activation of the PI3K/mTOR pathway promotes growth whereas inhibition, or abrogation, results in decreased cellular growth. Despite the rapid advances of the last decade, there is still an enormous amount to discover. We hope that some of the work reviewed in this issue will facilitate the next decade's discoveries and we look forward to a 10 years as productive as the last.
    MeSH term(s) Child ; Gene Expression Profiling ; Growth/genetics ; Humans
    Language English
    Publishing date 2013-05
    Publishing country United States
    Document type Introductory Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31362
    Database MEDical Literature Analysis and Retrieval System OnLINE

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