Regulating the Commercial Development of Genetic Testing in the UK: Problems, Possibilities and Policy

2003 ◽  
Vol 23 (2) ◽  
pp. 186-207 ◽  
Author(s):  
Paul Martin ◽  
Robert Frost
2019 ◽  
Vol 13 (1) ◽  
pp. 39-46
Author(s):  
Jen Standen

In the UK over 10 000 people live with cystic fibrosis (CF), with 1-in-25 people being carriers of the disease. Multidisciplinary care is provided by tertiary care CF centres, with or without local secondary service shared care agreements. There are still, however, several reasons why CF sufferers or their families present to their GPs. This article aims to provide a brief overview of CF and its management. It also gives the information needed to guide patients about genetic testing and neonatal screening for the disease.


2011 ◽  
Vol 2 (2) ◽  
pp. 53-69 ◽  
Author(s):  
Dorothea Gadzicki ◽  
D. Gareth Evans ◽  
Hilary Harris ◽  
Claire Julian-Reynier ◽  
Irmgard Nippert ◽  
...  

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
V Kabeya ◽  
S Puthussery ◽  
A Furmanski

Abstract Background Culturally appropriate interventions are needed to improve the uptake of genetic counselling and testing among ethnically diverse communities. This study aims to assess the feasibility and preliminary effectiveness of a “Health Party” intervention to increase awareness, knowledge and uptake of genetic testing for breast and ovarian cancer among ethnic minority women in the UK. Methods The “Health Party” intervention will include an educational session in a party setting. Participants will be taught by professionals about genetic testing and how to access genetic testing services in the UK National Health Service. We will recruit a sample of 60 women aged 18 years and over from key ethnic minority groups in the UK (Black African, Black Caribbean, Indian, Pakistani, Bangladeshi) and will conduct four community based sessions, each with about 15 participants. The outcomes will primarily relate to recruitment and attrition rates, data collection, study resources and intervention delivery. A quantitative pre-post evaluation with measurements before, shortly after, and at 6 months following the intervention will be conducted to assess the preliminary effectiveness on awareness, knowledge and uptake of genetic testing. We will use three way mixed analysis of variance (MANOVA) to analyse changes pre- and post- intervention. The fidelity of the intervention including facilitation strategies, quality of delivery and participant response will be assessed. Conclusions Findings will establish the feasibility of the intervention and will provide insights into its effectiveness to increase the awareness, knowledge and uptake of genetic testing for breast and ovarian cancer among women from ethnic minority groups in the UK. Impact: Depending on its feasibility and effectiveness, the intervention can be used to help women from ethnic minority groups to make informed choices about genetic testing and improve early diagnosis and treatment of breast and ovarian cancer. Key messages “Health Party” may be a feasible intervention for ethnic minority women in the UK. “Health Party” intervention may increase awareness, knowledge and uptake of services.


2005 ◽  
Vol 68 (6) ◽  
pp. 506-512 ◽  
Author(s):  
T Hutchin ◽  
NN Coy ◽  
H Conlon ◽  
E Telford ◽  
K Bromelow ◽  
...  

2020 ◽  
Vol 35 (4) ◽  
pp. 986-998 ◽  
Author(s):  
Rachel Theobald ◽  
Sioban SenGupta ◽  
Joyce Harper

Abstract STUDY QUESTION Has the number of preimplantation genetic testing (PGT) cycles in the UK and USA changed between 2014 and 2016? SUMMARY ANSWER From 2014 to 2016, the number of PGT cycles in the UK has remained the same at just under 2% but in the USA has increased from 13% to 27%. WHAT IS KNOWN ALREADY PGT was introduced as a treatment option for couples at risk of transmitting a known genetic or chromosomal abnormality to their child. This technology has also been applied as an embryo selection tool in the hope of increasing live birth rates per transfer. ART cycles are monitored in the UK by the Human Fertilisation and Embryology Authority (HFEA) and in the USA by the Society for Assisted Reproductive Technology (SART). Globally, data are monitored via the ESHRE PGT Consortium. STUDY DESIGN, SIZE, DURATION This cross-sectional study used the HFEA and SART databases to analyse PGT cycle data and make comparisons with IVF data to examine the success of and changes in patient treatment pathways. Both data sets were analysed from 2014 to 2016. The UK data included 3385 PGT cycles and the USA data included 94 935 PGT cycles. PARTICIPANTS/MATERIALS, SETTING, METHODS Following an extensive review of both databases, filters were applied to analyse the data. An assessment of limitations of each database was also undertaken, taking into account data collection by the ESHRE PGT Consortium. In the UK and USA, the publicly available information from these datasets cannot be separated into different indications. MAIN RESULTS AND THE ROLE OF CHANCE The proportion of PGT cycles as a total of ART procedures has remained the same in the UK but increased annually in the USA from 13% to 27%. Between 2014 and 2016 inclusive, 3385 PGT cycles have been performed in the UK, resulting in 1074 PGT babies being born. In the USA 94 935 PGT cycles have been performed, resulting in 26 822 babies being born. This gave a success rate per egg collection for PGT of 32% for the UK and 28% for the USA. Analysis of the data by maternal age shows very different patient populations between the UK and USA. These differences may be related to the way PGT is funded in the UK and USA and the lack of HFEA support for PGT for aneuploidy. LIMITATIONS, REASONS FOR CAUTION Data reported by the HFEA and SART have different limitations. As undertaken by the ESHRE PGT Consortium, both data sets should separate PGT data by indication. Although the HFEA collects data from all IVF clinics in the UK, SART data only represent 83% of clinics in the USA. WIDER IMPLICATIONS OF THE FINDINGS Worldwide, a consistent reporting scheme is required in which success rates can convey the effectiveness of PGT approaches for all indications. STUDY FUNDING/COMPETING INTEREST(S) No specific funding was obtained and there are no competing interests to declare that are directly related to this project. Joyce Harper is the director of the Embryology and PGD Academy, which offers education in these fields.


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