Yr Athro Marion McAllister
(hi/nhw)
Cadeirydd Personol
- Ar gael fel goruchwyliwr ôl-raddedig
Trosolwyg
Rwy'n gwnselydd genetig cofrestredig (EBMG), gyda PhD mewn Gwyddorau Cymdeithasol o Brifysgol Caergrawnt (1999), ac roeddwn yn Gyfarwyddwr Rhaglen ar gyfer yr MSc mewn Cwnsela Genetig a Genomig ym Mhrifysgol Caerdydd rhwng 2011 a 2023.
Mae gen i ddiddordeb arbennig mewn grymuso cleifion, a hanes nodedig mewn ymchwil cwnsela genetig. Nod fy ymchwil yw gwella sut mae gwasanaethau geneteg glinigol yn ymateb i anghenion teuluoedd â chyflyrau genetig. Datblygais a dilysais Fesur Canlyniadau Adroddwyd ar Gleifion newydd (Sba Canlyniad Cwnsela Genetigle GCOS-24) ar gyfer gwasanaethau geneteg clinigol, sy'n dal buddion cleifion wedi'u cysyniadu fel grymuso cleifion. Arweiniodd hyn at fy niddordeb mewn grymuso cleifion yn fwy cyffredinol, ac rwyf hefyd wedi cyhoeddi ymchwil ar rymuso cleifion mewn clefyd cronig. Ers ei gyhoeddi yn 2011, mae GCOS-24 wedi'i gyfieithu i'r Iseldiroedd, Daneg, Corea, Portiwgaleg, Sbaeneg, Swedeg a Japaneaidd ac mae'n cael ei ddefnyddio i werthuso gwasanaethau geneteg glinigol yn ymarferol, ac ymyriadau newydd mewn ymchwil yn y DU ac yn rhyngwladol.
Roeddwn yn Gynghorydd Addysg i Fwrdd Cofrestru Cwnselwyr Genetig y DU (GCRB, http://www.gcrb.org.uk) rhwng Ionawr 2012 a Ionawr 2018. Mae'r GCRB yn sefydlu, yn cynnal ac yn gwella safonau ymarfer mewn cwnsela genetig i sicrhau diogelwch y cyhoedd yn y DU a Gweriniaeth Iwerddon. Roedd fy rôl GCRB yn cynnwys safonwr academaidd arweiniol yn y 'diwrnod marcio' blynyddol, pan asesir portffolios a gyflwynwyd ar gyfer cofrestriad GCRB ar gyfer cynnwys academaidd, gan sicrhau bod portffolios yn bodloni QAA Lefel 7. Roeddwn yn aelod o Fwrdd Geneteg Feddygol Ewrop (EBMG) (https://www.eshg.org/408.0.html) rhwng 2017 a 2020.
Cyhoeddiad
2024
- Yang, S., Chang, Y. J., Kim, K. O., Lee, B. H., Kong, S., McAllister, M. and Choi, I. H. 2024. Cross‐cultural validation of the genetic counseling outcome scale in Korea. Journal of Genetic Counseling (10.1002/jgc4.1961)
- Redondo, L. and McAllister, M. 2024. Cross‐cultural adaptation of the Genetic Counseling Outcome Scale (GCOS‐24) for use in Canada: a qualitative study. Journal of Genetic Counseling 33(3), pp. 623-642. (10.1002/jgc4.1771)
- Pestoff, R., Danielsson, H., McAllister, M., Johansson, P. and Gunnarsson, C. 2024. Translation, cross‐cultural adaptation, and preliminary validation of a patient‐reported outcome measure for genetic counseling outcomes in Sweden. Journal of Genetic Counseling (10.1002/jgc4.1896)
2023
- O'Donoghue, E., McAllister, M. and Rizzo, R. 2023. The experiences of families receiving a diagnosis of 22q11.2 deletion syndrome in Ireland. Journal of Genetic Counseling 32(3), pp. 618-634. (10.1002/jgc4.1667)
2022
- Lleuger Pujol, R. et al. 2022. Further validation and psychometric properties of the Spanish adaptation of the Genetic Counseling Outcome Scale. Journal of Genetic Counseling 31, pp. 71-81. (10.1002/jgc4.1452)
2021
- Ting, M. S. O., Clarke, A. and McAllister, M. 2021. Assessing sensitivity to change of the genomics outcome scale (GOS). Journal of Genetic Counseling 30(6), pp. 1767-1772. (10.1002/jgc4.1429)
2020
- Atkins, C., McAllister, M. and Greenwood, S. 2020. Face to face vs. blended learning: What are the relative merits?. The British Student Doctor Journal 4(3), pp. 25-27. (10.18573/bsdj.198)
- Segundo-Ribeiro, M., Bacals, B. T., Alvarenga, W. d. A., Nascimento, L. C., McAllister, M. and Floria-Santos, M. 2020. Adaptation and preliminary validation of the genetic counseling outcome scale (GCOS-24) in a Brazilian genetic counselling setting. European Journal of Medical Genetics 63, article number: 104018. (10.1016/j.ejmg.2020.104018)
- Yuen, J. et al. 2020. Evaluating empowerment in genetic counseling using patient-reported outcomes. Clinical Genetics 97(2), pp. 246-256. (10.1111/cge.13646)
2019
- Grant, P. E., Pampaka, M., Payne, K., Clarke, A. and McAllister, M. 2019. Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale. European Journal of Medical Genetics 62(5), pp. 324-334. (10.1016/j.ejmg.2018.11.015)
2018
- Muñoz-Cabello, P. et al. 2018. Translation and cross-cultural adaptation with preliminary validation of GCOS-24 for use in Spain. Journal of Genetic Counselling 27(3), pp. 732-743. (10.1007/s10897-017-0154-z)
2017
- Costal Tirado, A., McDermott, A. M., Thomas, C., Ferrick, D., Harris, J., Edwards, A. and McAllister, M. 2017. Using patient-reported outcome measures for quality improvement in clinical genetics: an exploratory study. Journal of Genetic Counseling 26(5), pp. 1017-1028. (10.1007/s10897-017-0079-6)
- Davison, N. et al. 2017. Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example. Genetics in Medicine 19(9), pp. 1032-1039. (10.1038/gim.2017.9)
- Diness, B. R., Overbeck, G., Hjortshøj, T. D., Hammer, T. B., Timshel, S., Sørensen, E. and McAllister, M. 2017. Translation and adaptation of the genetic counselling outcome scale (GCOS-24) for use in Denmark. Journal of Genetic Counselling, pp. 1-10. (10.1007/s10897-017-0086-7)
- Hooker, G. W., Babu, D., Myers, M. F., Zierhut, H. and McAllister, M. 2017. Standards for the reporting of genetic counseling interventions in research and other studies (GCIRS): an NSGC task force report. Journal of Genetic Counselling 26(3), pp. 355-360. (10.1007/s10897-017-0076-9)
2016
- Eisler, I. et al. 2016. Training genetic counsellors to deliver an innovative therapeutic intervention: their views and experience of facilitating multi-family discussion groups. Journal of Genetic Counselling 26(2), pp. 199-214. (10.1007/s10897-016-0008-0)
- Eisler, I. et al. 2016. Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery. European Journal of Human Genetics 24(6), pp. 794-802. (10.1038/ejhg.2015.215)
- Brunstrom, K., Murray, A. and McAllister, M. 2016. Experiences of women who underwent predictive BRCA 1/2 mutation testing before the age of 30. Journal of Genetic Counselling 25(1), pp. 90-100. (10.1007/s10897-015-9845-5)
2015
- Bravo, P., Edwards, A. G., Barr, P. J., Scholl, I., Elwyn, G. and McAllister, M. 2015. Conceptualising patient empowerment: a mixed methods study. BMC Health Services Research 15, article number: 252. (10.1186/s12913-015-0907-z)
- , . 2015. Valuing preferences for the process and outcomes of clinical genetics services: A pilot study. The Patient - Patient-Centered Outcomes Research 9(2), pp. 135-147. (10.1007/s40271-015-0133-0)
2014
- McAllister, M. and Dearing, A. 2014. Patient reported outcomes and patient empowerment in clinical genetics services. Clinical Genetics 88(2), pp. 114-121. (10.1111/cge.12520)
2013
- Payne, K., McAllister, M. and Davies, L. M. 2013. Valuing the economic benefits of complex interventions: when maximising health is not sufficient. Health Economics 22(3), pp. 258-271. (10.1002/hec.2795)
- Coombs, R. et al. 2013. Understanding the impact of genetic testing for inherited retinal dystrophy. European Journal of Human Genetics 21(11), pp. 1209-1213. (10.1038/ejhg.2013.19)
2012
- McAllister, M., Dunn, G., Payne, K., Davies, L. and Todd, C. 2012. Patient empowerment: The need to consider it as a measurable patient-reported outcome for chronic conditions. BMC Health Services Research 12(1), pp. 157-164. (10.1186/1472-6963-12-157)
- McAllister, M., Wood, A. M., Dunn, G., Shiloh, S. and Todd, C. 2012. The perceived personal control (PPC) questionnaire: Reliability and validity in a sample from the United Kingdom. American Journal of Medical Genetics Part A 158A(2), pp. 367-372. (10.1002/ajmg.a.34374)
2011
- Myring, J., Beckett, W., Jassi, R., Roberts, T., Sayers, R., Scotcher, D. and McAllister, M. 2011. Shock, adjust, decide: reproductive decision making in Cystic Fibrosis (CF) carrier couples - a qualitative study. Journal of Genetic Counseling 20(4), pp. 404-417. (10.1007/s10897-011-9363-z)
- McAllister, M., Wood, A. M., Dunn, G., Shiloh, S. and Todd, C. 2011. The genetic counseling outcome scale: a new patient-reported outcome measure for clinical genetics services. Clinical Genetics 79(5), pp. 413-424. (10.1111/j.1399-0004.2011.01636.x)
- McAllister, M., Dunn, G. and Todd, C. 2011. Empowerment: qualitative underpinning of a new clinical genetics-specific patient-reported outcome. European Journal of Human Genetics 19(2), pp. 125-130. (10.1038/ejhg.2010.160)
2008
- McAllister, M., Payne, K., MacLeod, R., Nicholls, S., Donnai, D. and Davies, L. 2008. Patient empowerment in clinical genetics services. Journal of Health Psychology 13(7), pp. 895-905. (10.1177/1359105308095063)
- McAllister, M., Payne, K., MacLeod, R., Donnai, D. and Davies, L. 2008. Patient empowerment in clinical genetics services: a new model developed from qualitative research [Abstract]. Psychology and Health 23(S1), pp. 179. (10.1080/08870440802299543)
- Payne, K., Nicholls, S., McAllister, M., MacLeod, R., Donnai, D. and Davies, L. M. 2008. Outcome measurement in clinical genetics services: a systematic review of validated measures. Value In Health 11(3), pp. 497-508. (10.1111/j.1524-4733.2007.00259.x)
- McAllister, M., Payne, K., MacLeod, R., Nicholls, S., Donnai, D. and Davies, L. 2008. What process attributes of clinical genetics services could maximise patient benefits?. European Journal of Human Genetics 16(12), pp. 1467-1476. (10.1038/ejhg.2008.121)
- McAllister, M., Payne, K., MacLeod, R., Donnai, D. and Davies, L. 2008. Developing outcome measures for clinical genetics services: a triangulation approach [Abstract]. Psychology and Health 23(S1), pp. 179-180. (10.1080/08870440802299543)
2007
- McAllister, M., Davies, L., Payne, K., Nicholls, S., Donnai, D. and McLeod, R. 2007. The emotional effects of genetic disease: implications for clinical genetics. American Journal of Medical Genetics Part A 143A(22), pp. 2651-2661. (10.1002/ajmg.a.32013)
- Payne, K., Nicholls, S., McAllister, M., MacLeod, R., Ellis, I., Donnai, D. and Davies, L. 2007. Outcome measures for clinical genetics services: A comparison of genetics healthcare professionals and patients' views. Health Policy 84(1), pp. 112-122. (10.1016/j.healthpol.2007.03.005)
- McAllister, M., Payne, K., Nicholls, S., MacLeod, R., Donnai, D. and Davies, L. M. 2007. Improving service evaluation in clinical genetics: Identifying effects of genetic diseases on individuals and families. Journal of Genetic Counseling 16(1), pp. 71-83. (10.1007/s10897-006-9046-3)
2003
- McAllister, M. 2003. Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing. Clinical Genetics 64(3), pp. 179-189. (10.1034/j.1399-0004.2003.00133.x)
2002
- McAllister, M. 2002. Predictive genetic testing and beyond: A theory of engagement. Journal of Health Psychology 7(5), pp. 491-508. (10.1177/1359105302007005628)
- McAllister, M., O'Malley, K., Hopwood, P., Kerr, B., Howell, A. and Evans, D. G. R. 2002. Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future. Journal of Medical Genetics 39(7), pp. 531-535. (10.1136/jmg.39.7.531)
2001
- McAllister, M. 2001. Grounded theory in genetic counseling research. Journal of Genetic Counseling 10(3), pp. 233-250. (10.1023/A:1016628408498)
1998
- McAllister, M., Evans, D. G., Ormiston, W. and Daly, P. 1998. Men in breast cancer families: a preliminary qualitative study of awareness and experience. Journal of Medical Genetics 35(9), pp. 739-744. (10.1136/jmg.35.9.739)
1990
- McAllister, M., Kelly, C. T., Doyle, E. and Fogarty, W. M. 1990. The isomaltulose synthesising enzyme system of Serratia plymuthica. Biotechnology Letters 12(9), pp. 667-672. (10.1007/BF01088191)
Articles
- Yang, S., Chang, Y. J., Kim, K. O., Lee, B. H., Kong, S., McAllister, M. and Choi, I. H. 2024. Cross‐cultural validation of the genetic counseling outcome scale in Korea. Journal of Genetic Counseling (10.1002/jgc4.1961)
- Redondo, L. and McAllister, M. 2024. Cross‐cultural adaptation of the Genetic Counseling Outcome Scale (GCOS‐24) for use in Canada: a qualitative study. Journal of Genetic Counseling 33(3), pp. 623-642. (10.1002/jgc4.1771)
- Pestoff, R., Danielsson, H., McAllister, M., Johansson, P. and Gunnarsson, C. 2024. Translation, cross‐cultural adaptation, and preliminary validation of a patient‐reported outcome measure for genetic counseling outcomes in Sweden. Journal of Genetic Counseling (10.1002/jgc4.1896)
- O'Donoghue, E., McAllister, M. and Rizzo, R. 2023. The experiences of families receiving a diagnosis of 22q11.2 deletion syndrome in Ireland. Journal of Genetic Counseling 32(3), pp. 618-634. (10.1002/jgc4.1667)
- Lleuger Pujol, R. et al. 2022. Further validation and psychometric properties of the Spanish adaptation of the Genetic Counseling Outcome Scale. Journal of Genetic Counseling 31, pp. 71-81. (10.1002/jgc4.1452)
- Ting, M. S. O., Clarke, A. and McAllister, M. 2021. Assessing sensitivity to change of the genomics outcome scale (GOS). Journal of Genetic Counseling 30(6), pp. 1767-1772. (10.1002/jgc4.1429)
- Atkins, C., McAllister, M. and Greenwood, S. 2020. Face to face vs. blended learning: What are the relative merits?. The British Student Doctor Journal 4(3), pp. 25-27. (10.18573/bsdj.198)
- Segundo-Ribeiro, M., Bacals, B. T., Alvarenga, W. d. A., Nascimento, L. C., McAllister, M. and Floria-Santos, M. 2020. Adaptation and preliminary validation of the genetic counseling outcome scale (GCOS-24) in a Brazilian genetic counselling setting. European Journal of Medical Genetics 63, article number: 104018. (10.1016/j.ejmg.2020.104018)
- Yuen, J. et al. 2020. Evaluating empowerment in genetic counseling using patient-reported outcomes. Clinical Genetics 97(2), pp. 246-256. (10.1111/cge.13646)
- Grant, P. E., Pampaka, M., Payne, K., Clarke, A. and McAllister, M. 2019. Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale. European Journal of Medical Genetics 62(5), pp. 324-334. (10.1016/j.ejmg.2018.11.015)
- Muñoz-Cabello, P. et al. 2018. Translation and cross-cultural adaptation with preliminary validation of GCOS-24 for use in Spain. Journal of Genetic Counselling 27(3), pp. 732-743. (10.1007/s10897-017-0154-z)
- Costal Tirado, A., McDermott, A. M., Thomas, C., Ferrick, D., Harris, J., Edwards, A. and McAllister, M. 2017. Using patient-reported outcome measures for quality improvement in clinical genetics: an exploratory study. Journal of Genetic Counseling 26(5), pp. 1017-1028. (10.1007/s10897-017-0079-6)
- Davison, N. et al. 2017. Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example. Genetics in Medicine 19(9), pp. 1032-1039. (10.1038/gim.2017.9)
- Diness, B. R., Overbeck, G., Hjortshøj, T. D., Hammer, T. B., Timshel, S., Sørensen, E. and McAllister, M. 2017. Translation and adaptation of the genetic counselling outcome scale (GCOS-24) for use in Denmark. Journal of Genetic Counselling, pp. 1-10. (10.1007/s10897-017-0086-7)
- Hooker, G. W., Babu, D., Myers, M. F., Zierhut, H. and McAllister, M. 2017. Standards for the reporting of genetic counseling interventions in research and other studies (GCIRS): an NSGC task force report. Journal of Genetic Counselling 26(3), pp. 355-360. (10.1007/s10897-017-0076-9)
- Eisler, I. et al. 2016. Training genetic counsellors to deliver an innovative therapeutic intervention: their views and experience of facilitating multi-family discussion groups. Journal of Genetic Counselling 26(2), pp. 199-214. (10.1007/s10897-016-0008-0)
- Eisler, I. et al. 2016. Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery. European Journal of Human Genetics 24(6), pp. 794-802. (10.1038/ejhg.2015.215)
- Brunstrom, K., Murray, A. and McAllister, M. 2016. Experiences of women who underwent predictive BRCA 1/2 mutation testing before the age of 30. Journal of Genetic Counselling 25(1), pp. 90-100. (10.1007/s10897-015-9845-5)
- Bravo, P., Edwards, A. G., Barr, P. J., Scholl, I., Elwyn, G. and McAllister, M. 2015. Conceptualising patient empowerment: a mixed methods study. BMC Health Services Research 15, article number: 252. (10.1186/s12913-015-0907-z)
- , . 2015. Valuing preferences for the process and outcomes of clinical genetics services: A pilot study. The Patient - Patient-Centered Outcomes Research 9(2), pp. 135-147. (10.1007/s40271-015-0133-0)
- McAllister, M. and Dearing, A. 2014. Patient reported outcomes and patient empowerment in clinical genetics services. Clinical Genetics 88(2), pp. 114-121. (10.1111/cge.12520)
- Payne, K., McAllister, M. and Davies, L. M. 2013. Valuing the economic benefits of complex interventions: when maximising health is not sufficient. Health Economics 22(3), pp. 258-271. (10.1002/hec.2795)
- Coombs, R. et al. 2013. Understanding the impact of genetic testing for inherited retinal dystrophy. European Journal of Human Genetics 21(11), pp. 1209-1213. (10.1038/ejhg.2013.19)
- McAllister, M., Dunn, G., Payne, K., Davies, L. and Todd, C. 2012. Patient empowerment: The need to consider it as a measurable patient-reported outcome for chronic conditions. BMC Health Services Research 12(1), pp. 157-164. (10.1186/1472-6963-12-157)
- McAllister, M., Wood, A. M., Dunn, G., Shiloh, S. and Todd, C. 2012. The perceived personal control (PPC) questionnaire: Reliability and validity in a sample from the United Kingdom. American Journal of Medical Genetics Part A 158A(2), pp. 367-372. (10.1002/ajmg.a.34374)
- Myring, J., Beckett, W., Jassi, R., Roberts, T., Sayers, R., Scotcher, D. and McAllister, M. 2011. Shock, adjust, decide: reproductive decision making in Cystic Fibrosis (CF) carrier couples - a qualitative study. Journal of Genetic Counseling 20(4), pp. 404-417. (10.1007/s10897-011-9363-z)
- McAllister, M., Wood, A. M., Dunn, G., Shiloh, S. and Todd, C. 2011. The genetic counseling outcome scale: a new patient-reported outcome measure for clinical genetics services. Clinical Genetics 79(5), pp. 413-424. (10.1111/j.1399-0004.2011.01636.x)
- McAllister, M., Dunn, G. and Todd, C. 2011. Empowerment: qualitative underpinning of a new clinical genetics-specific patient-reported outcome. European Journal of Human Genetics 19(2), pp. 125-130. (10.1038/ejhg.2010.160)
- McAllister, M., Payne, K., MacLeod, R., Nicholls, S., Donnai, D. and Davies, L. 2008. Patient empowerment in clinical genetics services. Journal of Health Psychology 13(7), pp. 895-905. (10.1177/1359105308095063)
- McAllister, M., Payne, K., MacLeod, R., Donnai, D. and Davies, L. 2008. Patient empowerment in clinical genetics services: a new model developed from qualitative research [Abstract]. Psychology and Health 23(S1), pp. 179. (10.1080/08870440802299543)
- Payne, K., Nicholls, S., McAllister, M., MacLeod, R., Donnai, D. and Davies, L. M. 2008. Outcome measurement in clinical genetics services: a systematic review of validated measures. Value In Health 11(3), pp. 497-508. (10.1111/j.1524-4733.2007.00259.x)
- McAllister, M., Payne, K., MacLeod, R., Nicholls, S., Donnai, D. and Davies, L. 2008. What process attributes of clinical genetics services could maximise patient benefits?. European Journal of Human Genetics 16(12), pp. 1467-1476. (10.1038/ejhg.2008.121)
- McAllister, M., Payne, K., MacLeod, R., Donnai, D. and Davies, L. 2008. Developing outcome measures for clinical genetics services: a triangulation approach [Abstract]. Psychology and Health 23(S1), pp. 179-180. (10.1080/08870440802299543)
- McAllister, M., Davies, L., Payne, K., Nicholls, S., Donnai, D. and McLeod, R. 2007. The emotional effects of genetic disease: implications for clinical genetics. American Journal of Medical Genetics Part A 143A(22), pp. 2651-2661. (10.1002/ajmg.a.32013)
- Payne, K., Nicholls, S., McAllister, M., MacLeod, R., Ellis, I., Donnai, D. and Davies, L. 2007. Outcome measures for clinical genetics services: A comparison of genetics healthcare professionals and patients' views. Health Policy 84(1), pp. 112-122. (10.1016/j.healthpol.2007.03.005)
- McAllister, M., Payne, K., Nicholls, S., MacLeod, R., Donnai, D. and Davies, L. M. 2007. Improving service evaluation in clinical genetics: Identifying effects of genetic diseases on individuals and families. Journal of Genetic Counseling 16(1), pp. 71-83. (10.1007/s10897-006-9046-3)
- McAllister, M. 2003. Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing. Clinical Genetics 64(3), pp. 179-189. (10.1034/j.1399-0004.2003.00133.x)
- McAllister, M. 2002. Predictive genetic testing and beyond: A theory of engagement. Journal of Health Psychology 7(5), pp. 491-508. (10.1177/1359105302007005628)
- McAllister, M., O'Malley, K., Hopwood, P., Kerr, B., Howell, A. and Evans, D. G. R. 2002. Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future. Journal of Medical Genetics 39(7), pp. 531-535. (10.1136/jmg.39.7.531)
- McAllister, M. 2001. Grounded theory in genetic counseling research. Journal of Genetic Counseling 10(3), pp. 233-250. (10.1023/A:1016628408498)
- McAllister, M., Evans, D. G., Ormiston, W. and Daly, P. 1998. Men in breast cancer families: a preliminary qualitative study of awareness and experience. Journal of Medical Genetics 35(9), pp. 739-744. (10.1136/jmg.35.9.739)
- McAllister, M., Kelly, C. T., Doyle, E. and Fogarty, W. M. 1990. The isomaltulose synthesising enzyme system of Serratia plymuthica. Biotechnology Letters 12(9), pp. 667-672. (10.1007/BF01088191)
Ymchwil
Mae'r Raddfa Canlyniad Cwnsela Genetig (GCOS-24), y Mesur Canlyniadau Adroddwyd gan Gleifion newydd a ddatblygais ac a ddilysais yn ystod fy Nghymrodoriaeth MRC (2007-10), yn cael ei ddefnyddio i werthuso geneteg glinigol a gwasanaethau cwnsela genetig yn y DU ac yn rhyngwladol, ac fe'i defnyddir hefyd mewn ymchwil. Mae GCOS-24 wedi'i gyfieithu i'r Iseldiroedd, Daneg, Corea, Portiwgaleg, Sbaeneg, Swedeg a Japaneg. Mae fy ymchwil presennol yn canolbwyntio ar wella sut mae gwasanaethau geneteg glinigol yn ymateb i anghenion cleifion a theuluoedd y mae cyflyrau genetig yn effeithio arnynt. Rwy'n hapus i weithio gyda chydweithwyr rhyngwladol ar ymdrechion i gyfieithu ac addasu'n draws-ddiwylliannol ar y raddfa canlyniadau cwnsela genetig a'r raddfa canlyniadau genomeg i'w defnyddio mewn ieithoedd / diwylliannau eraill. I'r rhai sydd â diddordeb yn y gwaith hwn, dyma rai erthyglau defnyddiol:
Erthyglau sy'n adrodd cyfieithu ac addasu Graddfa Canlyniad Cwnsela Genetig i'w defnyddio mewn ieithoedd / diwylliannau eraill: Brasil Canada Denmarc Corea Sbaen 1, Sbaen 2, Sweden
Canllawiau ar gyfieithu ac addasu traws-ddiwylliannol holiaduron: Beaton et al. (2000) , Wild et al. (2005) ; Dull cyfweliad gwybyddol ar gyfer asesu darllenadwyedd a dealladwyedd holiaduron wedi'u cyfieithu: Irwin et al. (2009)
Addysgu
MSc mewn Cwnsela Genetig (a Genomeg Prifysgol Caerdydd):
Ar hyn o bryd rwy'n arwain modiwl Dulliau Ymchwil y rhaglen (MET824) a'r modiwl Traethawd Hir (MET820).
Meysydd pwnc yr hoffwn eu goruchwylio mewn:
- Grymuso cleifion a gofal sy'n canolbwyntio ar y claf
- Ymchwil ansoddol mewn gofal iechyd
- Astudiaethau sy'n cyfieithu ac yn addasu'r raddfa canlyniadau cwnsela genetig a'r raddfa canlyniadau genomeg i'w defnyddio mewn ieithoedd / diwylliannau eraill.
Bywgraffiad
Addysg a chymwysterau:
- 2019: Uwch Gymrawd yr Academi Addysg Uwch
- 2000: PhD (Gwyddorau Cymdeithasol), Prifysgol Caergrawnt
- 1994: MSc (Cwnsela Genynnol), Prifysgol Manceinion
- 1989: MSc (Microbioleg Ddiwydiannol), Coleg Prifysgol Dulyn
- 1985: BA (Mod) Gwyddoniaeth Naturiol: Geneteg, Coleg y Drindod Dulyn
Trosolwg gyrfa:
- 2011 - Parhaus: Ysgol Meddygaeth Prifysgol Caerdydd: Cyn Gyfarwyddwr Rhaglen ac Arweinydd Traethawd Hir cyfredol, MSc mewn Cwnsela Genetig (a Genomeg).
- 2011-2016: Cynghorydd Genetig Cofrestredig Bwrdd Iechyd Prifysgol Caerdydd a'r Fro (0.4WTE).
- 2010 – 2011: Cymrawd Ymchwil Ymddiriedolaeth Wellcome, Grŵp Ymchwil Geneteg Feddygol, Ysgol Biofeddygaeth, Prifysgol Manceinion, Tymor Sefydlog.
- 2007 - 2010: Cymrawd Ymchwil MRC, Grŵp Ymchwil Geneteg Feddygol, Ysgol Biofeddygaeth, Prifysgol Manceinion, Tymor Sefydlog.
- 2007 – 2011: Cwnselydd Genetig Cofrestredig Anrhydeddus, Meddygaeth Genetig, Ymddiriedolaeth Sylfaen GIG Ysbytai Prifysgol Canol Manceinion (CMFT).
- 2003 – 2007 (0.5WTE): Cymrawd Ymchwil (Cwnsela Genetig), Nowgen (Parc Gwybodaeth Geneteg Gogledd Orllewin Lloegr). Tymor Penodol.
- 1999 – 2003 (1.0WTE); 2003 – 2007 (0.5WTE): Cwnselydd Genetig Macmillan, Ymddiriedolaeth Sylfaen GIG Ysbytai Prifysgol Canol Manceinion. Sylweddol.
- Ebr – Mehefin 1999: Cydlynydd Cwrs Geneteg Canser, Ymddiriedolaeth GIG Gofal Iechyd Canol Manceinion. Cyfnod penodol (0.6WTE).
- 1996 – 1999: Efrydiaeth PhD (Cancer Research UK), Canolfan Ymchwil Deuluol Prifysgol Caergrawnt, Cyfadran y Gwyddorau Cymdeithasol a Gwleidyddol.
- Meh – Hydref 1996: Cynorthwyydd Genetig. Ymddiriedolaeth GIG Gofal Iechyd Canol Manceinion. Contract cyfnod penodol.
- 1990–1994: Ymgynghorydd Rheoli Newid. Andersen Consulting (Accenture bellach) Llundain
Anrhydeddau a dyfarniadau
- 2017: Recipient of the National Society of Genetic Counselors (NSGC) International Leader Award. NSGC is the professional body representing genetic counsellors in North America.
- 2011: Visiting Lecturer, South Africa, Universities of Witwasersrand, Cape Town and Stellenbosch MSc in Genetic Counselling courses.
- 2011: National Institute for Social Care & Health Research / Academic Health Science Centre Clinical Research Time Fellowship (Cardiff & Vale University Health Board). Value: ~£68,000
- 2010: Wellcome Trust VIP Bridging Funding awarded by The University of Manchester Faculty of Medical and Human Sciences in internal competition. Value: £9,480
- 2007: MRC Post-Doctoral Special Training Fellowship in Health Services Research. Value: £318,770
- 2007: Health R&D North West Training and Mentoring (TRAM) scheme to support Health Services Research training and mentoring. Value: £4,500
- 2006: UK Resource Centre for Women in SET travel bursary to present at the International Congress of Human Genetics, Brisbane, Australia. Value: £990
- 1984: Irish-American Foundation undergraduate travel award to work in a research laboratory at University of Michigan, USA investigating cell division cycle genes in S cerevisiae. Value: £1,000
Aelodaethau proffesiynol
- 2016: Cofrestru Cwnselydd Genetig, Bwrdd Ewropeaidd Geneteg Feddygol
- Aelod o Gymdeithas Nyrsys a Chwnselwyr Genetig (http://www.agnc.org.uk/), corff proffesiynol y DU ar gyfer cwnselwyr genetig
- Aelod o'r Gymdeithas Brydeinig ar gyfer Meddygaeth Genetig (http://www.bsgm.org.uk/), corff annibynnol sy'n cynrychioli gweithwyr proffesiynol geneteg dynol yn y DU
Safleoedd academaidd blaenorol
- 2010 – 2011: Wellcome Trust Research Fellow, Medical Genetics Research Group, School of Biomedicine, The University of Manchester, Fixed-term.
- 2007 - 2010: MRC Research Fellow, Medical Genetics Research Group, School of Biomedicine, The University of Manchester
- 2003 – 2007: Post-doctoral Research fellow (Genetic Counselling), Nowgen (North West Genetics Knowledge Park).
Pwyllgorau ac adolygu
Mewnol:
- 2017-parhaus: Aelod o'r Grŵp Derbyn ar gyfer yr Ysgol Feddygaeth, sy'n gosod ac yn gweithredu'r polisi ar gyfer derbyn i Ysgol Feddygaeth Prifysgol Caerdydd
Meysydd goruchwyliaeth
- Evaluation of genetic counselling interventions
- Patient experiences of genetic counselling and/or genetic testing
- Patient experiences of living with genetic risk
Ymgysylltu
I am a regular contributor to the Wales Gene Park Schools Genetics Roadshow.
In 2011, I was invited external validation panel member for a new MSc Genetic Counselling at Independent Studies of Science & Technology College, Athens, Greece, developed under franchise to University of Hertfordshire. In 2017, I was invited external validation panel member for a new MSc Genetic Counselling at Qatar University.
In 2012, my article for families affected by genetic conditions “Quality assessment in clinical genetics services” was selected for publication in the newsletter of Genetic Alliance UK, an alliance of patient organisations supporting families affected by genetic conditions. In 2012, my invited book chapter “Genetic Counselling” was published in the Ehlers Danlos Support Group (EDS) booklet “The Management of Ehlers-Danlos Syndrome”.
Contact Details
+44 29225 10811
Neuadd Meirionnydd, Ystafell 918K, Ysbyty Athrofaol Cymru, Parc y Mynydd Bychan, Caerdydd, CF14 4YS