Page 36 - Read Online
P. 36

Page 30                  Hunter et al. J Transl Genet Genom 2023;7:17-26  https://dx.doi.org/10.20517/jtgg.2022.19

               26.      Turnbull C, Scott RH, Thomas E, et al. The 100,000 genomes project: bringing whole genome sequencing to the NHS. BMJ
                   2018;361:k1687.  DOI
               27.      NIHR BioResource website. Rare Diseases BioResource. Available from: https://bioresource.nihr.ac.uk/rare-diseases/rare-diseases/
                   [Last accessed on 3 Feb 2023].
               28.      Biobank UK publication list. Available from: https://www.ukbiobank.ac.uk/enable-your-research/publications [Last accessed on 3 Feb
                   2023].
               29.      N a t i o n a l   I n s t i t u t e   f o r   H e a l t h   a n d   C a r e   R e s e a r c h ,   B i o R e s o u r c e   p u b l i c a t i o n s   l i s t .   A v a i l a b l e   f r o m  :
                   https://bioresource.nihr.ac.uk/publications/ [Last accessed on 3 Feb 2023].
               30.      Genomics England publications list. Available from: https://www.genomicsengland.co.uk/research/publications?ged=1 [Last accessed
                   on 3 Feb 2023].
               31.      NHS  service  guidance.  Rapid  exome  sequencing  service  guidance:  fetal  anomalies  testing.  Available  from:
                   https://www.england.nhs.uk/wp-content/uploads/2021/07/B0179_Guidance-rapid-exome-sequencing-service-for-fetal-
                   anomalies_July21.pdf [Last accessed on 3 Feb 2023].
               32.      Stark Z, Ellard S. Rapid genomic testing for critically ill children: time to become standard of care? Eur J Hum Genet 2022;30:142-9.
                   DOI  PubMed  PMC
               33.      Genomics  England  newborn  genomes  web  resource.  Newborn  Genomes  Programme.  Available  from:
                   https://www.genomicsengland.co.uk/initiatives/newborns [Last accessed on 3 Feb 2023].
               34.      Murtagh MJ, Machirori M, Gaff CL, et al. Engaged genomic science produces better and fairer outcomes: an engagement framework
                   for engaging and involving participants, patients and publics in genomics research and healthcare implementation. Wellcome Open Res
                   2021;6:311.  DOI  PubMed  PMC
               35.      Burke K, Clarke A. The challenge of consent in clinical genome-wide testing. Arch Dis Child 2016;101:1048-52.  DOI  PubMed
               36.      Sharif SM, Blyth M, Ahmed M, et al. Enhancing inclusion of diverse populations in genomics: A competence framework. J Genet
                   Couns 2020;29:282-92.  DOI  PubMed
               37.      Fatumo S, Chikowore T, Choudhury A, Ayub M, Martin AR, Kuchenbaecker K. A roadmap to increase diversity in genomic studies.
                   Nat Med 2022;28:243-50.  DOI  PubMed
               38.      Lewis C, Buchanan J, Clarke A, et al. Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases:
                   study protocol [version 2; peer review: 3 approved, 1 approved with reservations]. NIHR Open Res 2022;1:23.  DOI
               39.      Genetic Alliance UK. Available from: https://geneticalliance.org.uk/ [Last accessed on 3 Feb 2023].
               40.      Unique. Available from: https://rarechromo.org/ [Last accessed on 3 Feb 2023].
               41.      SWAN UK. Available form: https://www.undiagnosed.org.uk/ [Last accessed on 3 Feb 2023].
               42.      Video summary explaining our research. Available from: https://vimeo.com/718758712 [Last accessed on 3 Feb 2023].
               43.      Alstrom Syndrome UK. Available from: https://www.alstrom.org.uk/ [Last accessed on 3 Feb 2023].
               44.      Hill M, Ellard S, Fisher J, et al. Optimising exome prenatal sequencing services (EXPRESS): a study protocol to evaluate rapid
                   prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]. NIHR Open Res 2022;2:10.
                   DOI  PubMed  PMC
               45.      Antenatal Results and Choices (ARC) website. Available from: https://www.arc-uk.org/ [Last accessed on 3 Feb 2023].
               46.      Hastings Ward J, Middleton R, McCormick D, et al. Research participants: critical friends, agents for change. Eur J Hum Genet
                   2022;30:1309-13.  DOI  PubMed  PMC
               47.      Involve. Available from: https://involve.org.uk/ [Last accessed on 3 Feb 2023].
               48.      Ormondroyd E, Harper AR, Thomson KL, et al. Secondary findings in inherited heart conditions: a genotype-first feasibility study to
                   assess phenotype, behavioural and psychosocial outcomes. Eur J Hum Genet 2020;28:1486-96.  DOI  PubMed  PMC
               49.      Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome
                   sequencing. Genet Med 2013;15:565-74.  DOI
               50.      Beskow LM, Fullerton SM, Namey EE, Nelson DK, Davis AM, Wilfond BS. Recommendations for ethical approaches to genotype-
                   driven research recruitment. Hum Genet 2012;131:1423-31.  DOI  PubMed  PMC
               51.      Donabedian A. Evaluating the quality of medical care. Milbank Q 2005;83:691-729.  DOI  PubMed  PMC
               52.      Ocloo J, Garfield S, Franklin BD, Dawson S. Exploring the theory, barriers and enablers for patient and public involvement across
                   health, social care and patient safety: a systematic review of reviews. Health Res Policy Syst 2021;19:8.  DOI  PubMed  PMC
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