Bulletin references April 2021

A full list of references for the April Bulletin is available here.

You can download a copy of the April 2021 Bulletin from our Bulletin pages.

The 100,000 Genomes Project: research and clinical legacy 

  1. Cancer Research UK. Cancer Incidence Statistics. 2017. Available at: www.cancerresearchuk.org/health-professional/cancer-statistics/incidence. 
  2.  Burrell RA, Swanton C. Tumour heterogeneity and the evolution of polyclonal drug resistance. Mol Oncol 2014;doi: 10.1016/j.molonc.2014.06.005 
  3.  International Cancer Genome Consortium. International network of cancer genome projects. Nature 2010;464(7291):993–998.  
  4. Turnbull C. Introducing whole-genome sequencing into routine cancer care: the Genomics England 100,000 Genomes Project. Ann Oncol 2018;29(4):784–787. 
  5. NHS England. Achieving World-class Cancer Outcomes: A Strategy for England 2015–2020. 2015. Available at: www.england.nhs.uk/publication/achieving-world-class-cancer-outcomes/
  6. Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, et al. The 100,000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ 2018;361:k1687.  
  7.  Robbe P, Popitsch N, Knight SJL, Antoniou P, Becq J, He M, et al. Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project. Genet Med 2018;doi: 10.1038/gim.2017.241.
  8. NHS England. NHS Genomic Medicine Service. Available at: www.england.nhs.uk/genomics/nhs-genomic-med-service/
  9. Jones JL, Oien KA, Lee JL, Salto-Tellez M. Morphomolecular pathology: setting the framework for a new generation of pathologists. Br J Cancer 2017;doi: 10.1038/bjc.2017.340.

Genomic testing for haematological malignancies: the next generation 

  1. Nowell PC, Hungerford DA. Chromosome Studies on Normal and Leukemic Human Leukocytes. J Natl Cancer Instit 1960;25:85−109. 
  2.  Hehlmann R. Chronic Myeloid Leukemia in 2020. Hemasphere 2020;4:e468. 
  3. Arber DA, Orazi A, Hasserjian R et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016;127:2391−2405. 
  4. Bartram J, Patel B, Fielding AK. Monitoring MRD in ALL: Methodologies, technical aspects and optimal time points for measurement. Semin Hematol 2020;57:142−148. 
  5. Dillon R, Potter N, Freeman S, Russell N. How we use molecular minimal residual disease (MRD) testing in acute myeloid leukaemia (AML). Br J Haematol 2020; doi: 10.1111/bjh.1718 (Epub ahead of print). 
  6. Burgos L, Puig N, Cedena MT, Mateos MV, Lahuerta JJ, Paiva B et al. Measurable residual disease in multiple myeloma: ready for clinical practice? J Hematol Oncol 2020;13:82. 
  7. Del Giudice I, Raponi S, Della Starza I, De Propris MS, Cavalli M, De Novi LA et al. Minimal Residual Disease in Chronic Lymphocytic Leukemia: A New Goal? Front Oncol 2019;9:689. 
  8. Rossi D, Spina V, Bruscaggin A, Gaidano G. Liquid biopsy in lymphoma. Haematologica 2019;104:648−652. 
  9. Health Education England Genomics Education Programme. Accessed 16 February 2021. Available at: www.genomicseducation.hee.nhs.uk/.
  10. National Genomic Test Directory (updated 16 November 2020). Accessed 16 February 2021. Available at: www.england.nhs.uk/publication/national-genomic-test-directories/.  
  11. Minervini CF, Cumbo C, Orsini P, Anelli L, Zagaria A, Specchia G et al. Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities. Front Genet 2020;11:76. 

Pharmacogenomics in cancer management 

  1. NHS England. National Genomic Test Directory. Available at: www.england.nhs.uk/publication/national-genomic-test-directories/
  2. Vasen HFA, Velthuizen ME, Kleibeuker JH, Menko FH, Nagengast FM, Cats A et al. Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry. Fam Cancer 2016;15:429–435. 
  3. Thorn CF, Marsh S, Whirl Carrillo M, McLeod HL, Klein TE, Altman RB. PharmGKB summary: fluoropyrimidine pathways. Pharmacogenet Genomics 2011;21:237–242. 
  4. Diasio RB, Beavers TL, Carpenter JT. Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. J Clin Invest 1988;81:47–51.
  5. Maring JG, van Kuilenburg ABP, Haasjes J, Piersma H, Groen HJM, Ugeset DRA et al. Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene. Br J Cancer 2002;86:1028–1033. 
  6. Boisdron-Celle M, G Remaud, S Traore, A L Poirier, L Gamelin, A Morel, E Gamelin. 5-Fluorouracil-related severe toxicity: A comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. Cancer Lett 2007;249:271–282. 
  7. Amstutz U, Henricks LM, Offer SM, Barbarino J, Schellens JHM, Swen JJ et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clin Pharmacol Ther 2018;103:210–216. 
  8. Jones J,Nelan R, Arumugam P. The legacy of the 100,000 Genomes Project. The Royal College of Pathologists Bulletin 2021;191:XXX−XXX. 
  9. European Medicines Agency. Fluorouracil and fluorouracil related substances (capecitabine, tegafur and flucytosine) containing medicinal products. 2020. Available at:  www.ema.europa.eu/en/medicines/human/referrals/fluorouracil-fluorouracil-related-substances-capecitabine-tegafur-flucytosine-containing-medicinal
  10. Public Health England. Clinical Commissioning Urgent Policy Statement Pharmacogenomic testing for DPYD polymorphisms with fluoropyrimidine therapies [URN 1869] (200603P). 2020. Available at: www.england.nhs.uk/wp-content/uploads/2020/11/1869-dpyd-policy-statement.pdf
  11. Mattison LK, Fourie J, Desmond RA, Modak A, Wasif Saif M, Diasio RB. Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. Clin Cancer Res 2006;12:5491−5495. 
  12. Lunenburg CATC, van der Wouden CH, Nijenhuis M, Crommentuijn-van Rhenen MH, de Boer-Veger NJ, Buunk AM et al. Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines. Eur J Hum Genet 2020;28:508−517. 
  13. Froehlich TK, Amstutz U, Aebi S, Joerger M, Largiadèr CR. Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity. Int J Cancer 2015;136:730−739. 

Pathology workforce and training in genomic medicine 

  1. Van den Tweel JG, Taylor CR. A brief history of pathology: Preface to a forthcoming series that highlights milestones in evolution of pathology as a discipline. Virchows Arch 2010;455:3–10. 
  2. Moore DA, Young CA, Morris HT, Oien KA, Lee JL, Jones LJ et al. Time for change: a new training programme for morpho-molecular pathologists? J Clin Pathol 2018;71:285–290. 
  3. Curtis C, Shah SP, Chin SF, Turashvili G, Rueda OM, Dunning MJ et al. The genomic and transcriptomic architecture of 2000 breast tumours reveals novel subgroups. Nature 2012;486:346–352. 
  4. HM Government. GENOME UK – The Future of Healthcare. 2020. Available here.
  5. Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB et al. The 100,000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ 2018;361:k1687.  
  6. Berner AM, Morrissey GJ, Murugaesu N. Clinical analysis of whole genome sequencing in cancer patients. Curr Genet Med Rep 2019;7:136–143. 
  7. Royal College of Pathologists. Curriculum for Specialty Training in Histopathology. 2010. Available at: www.rcpath.org/uploads/assets/ef0d8bac-b0df-4116-9f3fdeb392a51652/Histopathology-curriculum-2010.pdf.
  8. Royal College of Pathologists. Curriculum for Specialty Training in Histopathology. 2015. Available at: www.rcpath.org/uploads/assets/359dd57d-da20-4b62-b6fdefb3acf62309/Histopathology-curriculum-2015.pdf
  9. Brockmoeller S, Young C, Lee J, Arends MJ, Wilkins SB, Thomas GJ et al. Survey of UK histopathology consultants’ attitudes towards academic and molecular pathology. J Clin Path 2019;72:399−405. 
  10. NHS Health Education England. Genomics Education Programme: Preparing the Healthcare Workforce to Harness the Power of Genomic Medicine. Accessed February 2020. Available at: www.genomicseducation.hee.nhs.uk/about-us/.
  11. NHS England. NHS Genomic Medicine Service Alliances to Help Embed Genomics into Patient Care Pathways. 2020. Available at: www.england.nhs.uk/blog/nhs-genomic-medicine-service-alliances-to-help-embed-genomics-into-patient-care-pathways/.
  12. Academy of Medical Royal Colleges. Genomics. 2019. Available at: www.aomrc.org.uk/genomics.

Incorporating genomics testing into clinical biochemistry services 

  1. Healthcare Transformers. Five strategies towards personalized healthcare. Available at: https://healthcaretransformers.com/healthcare-business/personalized-healthcare-strategies/.
  2. NHS. The NHS Long Term Plan. Available at: https://www.longtermplan.nhs.uk/wp-content/uploads/2019/01/nhs-long-term-plan-june-2019.pdf
  3. Report of the Second Phase of the Review of NHS Pathology Services in England. Chaired by Lord Carter of Coles.
  4. UK Health Data Research Alliance. Available at: www.hdruk.ac.uk/infrastructure/uk-health-data-research-alliance/

Tiny test, huge impact 

  1. Pui C-H, Relling MV, Downing JR. Acute lymphoblastic leukemia. N Engl J Med 2004;350:1535–1548.
  2. Ramsay A, Pomplun S, Wilkins B. Tissue pathways for lymph node, spleen and bone marrow trephine biopsy specimens. London, UK: Royal College of Pathologists, 2017. Available at: www.rcpath.org/profession/guidelines/cancer-datasets-and-tissue-pathways.html.
  3. Starza ID, Chiaretti S, De Propris MS, Elia L, Cavalli M, De Novi LA et al. Minimal Residual Disease in Acute Lymphoblastic Leukemia: Technical and Clinical Advances. Front Oncol. 2019;9:726 (doi:10.3389/fonc.2019.00726).  
  4. Vora A, Wade R, Mitchell CD, Goulden N, Richards S. Improved Outcome for Children and Young Adults with T-Cell Acute Lymphoblastic Leukaemia (ALL): Results of the United Kingdom Medical Research Council (MRC) Trial UKALL 2003. Blood 2008;112:908. 
  5. Anthony Nolan. Accessed at: www.anthonynolan.org.

Transfusion 2024: a five-year plan for clinical and laboratory transfusion 

  1. Department of Health. Health Service Circular on Better Blood Transfusion. 1998;224.  
  2. Department of Health. Health Service Circular on Better Blood Transfusion. 2002;009. 
  3. Department of Health. Health Service Circular on Better Blood Transfusion. 2007;001. 
  4. National Blood Transfusion Committee. Patient Blood Management. Available at: www.transfusionguidelines.org/uk-transfusion-committees/national-blood-transfusion-committee/patient-blood-management.
  5. NHS England. NHS Long Term Plan. Available at:www.longtermplan.nhs.uk.
  6. NHS England. NHS Patient Safety Strategy. Available at: https://improvement.nhs.uk/resources/patient-safety-strategy/.

The hub of the system: the all-Wales medical examiner service  

  1. Coroner and Justice Act 2009, Chapter 2, Section 19. Available at: www.legislation.gov.uk/ukpga/2009/25/pdfs/ukpga_20090025_en.pdf.
  2. The Notification of Deaths Regulations 2019, No.112, Medical Profession England and Wales, Coroners England and Wales. Available at: www.legislation.gov.uk/uksi/2019/1112/made.
  3. NHS Wales Shared Services Website. http://www.sharedservicespartnership.wales.nhs.uk/medical-examiner-service.
  4. Royal College of Pathologists. Medical Examiner Training. Available at: www.rcpath.org/profession/medical-examiners/medical-examiner-training.html.
  5. Royal College of Pathologists. Medical Examiner Officers. Available at: www.rcpath.org/profession/medical-examiners/medical-examiner-officers.html.
  6. Royal College of Pathologists. MEO training record: user guide. Available at: www.rcpath.org/uploads/assets/09461cf0-2fcb-445b-bba645db661495d9/MEO-training-record-user-guide.pdf.  
  7. NHS England and NHS Improvement. Implementing the medical examiner system: National Medical Examiner’s good practice guidelines. January 2020. Available at: improvement.nhs.uk/documents/6398/National_Medical_Examiner_-_good_practice_guidelines.pdf.


Implementing digital pathology: lessons from digital health  

  1. Parwani A. Next generation diagnostic pathology: use of digital pathology and artificial intelligence tools to augment a pathological diagnosis. Diagn Pathol 2019;14:138−141. 
  2. Hanna MG, Reuter VE, Samboy J, England C, Corsale L, Fine SW et al. Implementation of Digital Pathology Offers Clinical and Operational Increase in Efficiency and Cost Savings. Arch Pathol Lab Med 2019;143:1545−1555. 
  3. Baidoshvili A, Bucur A, van Leeuwen J, van der Laak J, Kluin P, van Diest PJ. Evaluating the benefits of digital pathology implementation: time savings in laboratory logistics. Histopathology 2018;73:784−794. 
  4. Cancer Research UK. Testing times to come? An evaluation of pathology capacity across the UK. 2016. Accessed 15 March 2021. Available from: www.cancerresearchuk.org/sites/default/files/testing_times_to_come_nov_16_cruk.pdf.
  5. Royal College of Pathologists. Histopathology workforce survey. RCPath, 2018. Available from: www.rcpath.org/profession/workforce-planning/our-workforce-research/histopathology-workforce-survey-2018.html
  6. Niazi MKK, Parwani AV, Gurcan MN. Digital pathology and artificial intelligence. Lancet Oncol 2019;20:e253−e261. 
  7. Huss R, Coupland SE. Software-assisted decision support in digital histopathology. J Pathol 2020;250:685−692. 
  8. Stathonikos N, Nguyen TQ, Spoto CP, Verdaasdonk MAM, van Diest PJ. Being fully digital: perspective of a Dutch academic pathology laboratory. Histopathology 2019;75:621−635. 
  9. Williams BJ, Lee J, Oien KA, Treanor D. Digital pathology access and usage in the UK: results from a national survey on behalf of the National Cancer Research Institute's CM-Path initiative. J Clin Pathol 2018;71:463−466. 
  10. Evans AJ, Salama ME, Henricks WH, Pantanowitz L. Implementation of Whole Slide Imaging for Clinical Purposes: Issues to Consider From the Perspective of Early Adopters. Arch Pathol Lab Med 2017;141:944−959. 
  11.  Alami H, Fortin JP, Gagnon MP, Pollender H, Tetu B, Tanguay F. The Challenges of a Complex and Innovative Telehealth Project: A Qualitative Evaluation of the Eastern Quebec Telepathology Network. Int J Health Policy Manag 2017;7:421−432. 
  12. Industrial Centre for Artifical Intelligence Research − iCAIRD. Accessed 15 March 2021. Available from: https://icaird.com/
  13. Northern Pathology Imaging Co-operative − NPIC. Accessed 15 March 2021. Available from: www.virtualpathology.leeds.ac.uk/npic/
  14. PathLAKE − Computational Pathology Excellence. Accessed 15 March 2021. Available from: www.pathlake.org/.
  15. Thorstenson S, Molin J, Lundstrom C. Implementation of large-scale routine diagnostics using whole slide imaging in Sweden: Digital pathology experiences 2006−2013. J Pathol Inform 2014;5:14−24.  
  16. Hartman DJ, Pantanowitz L, McHugh JS, Piccoli AL, MJ OLeary, Lauro GR. Enterprise Implementation of Digital Pathology: Feasibility, Challenges, and Opportunities. J Digit Imaging 2017;30:555−560.  
  17. Isaacs M, Lennerz JK, Yates S, Clermont W, Rossi J, Pfeifer JD. Implementation of whole slide imaging in surgical pathology: A value added approach. J Pathol Inform 2011;2:39−45.  
  18. Browning L, Colling R, Rittscher J, Winter L, McEntyre N, Verrill C. Implementation of digital pathology into diagnostic practice: perceptions and opinions of histopathology trainees and implications for training. J Clin Pathol 2020;73:223−227.  
  19. Stathonikos N, van Varsseveld NC, Vink A, van Dijk MR, Nguyen TQ, de Leng WWJ et al. Digital pathology in the time of corona. J Clin Pathol 2020;73:706. 
  20. Ho J, Aridor O, Parwani AV. Use of contextual inquiry to understand anatomic pathology workflow: Implications for digital pathology adoption. J Pathol Inform 2012;3:35−44.  
  21. Ho J, Aridor O, Glinski DW, Saylor CD, Pelletier JP, Selby DM et al. Needs and workflow assessment prior to implementation of a digital pathology infrastructure for the US Air Force Medical Service. J Pathol Inform 2013;4:32.  
  22. van Limburg M, van Gemert-Pijnen JE, Nijland N, Ossebaard HC, Hendrix RM, Seydel ER. Why business modeling is crucial in the development of eHealth technologies. J Med Internet Res 2011;13:e124. 
  23. Ross J, Stevenson F, Lau R, Murray E. Factors that influence the implementation of e-health: a systematic review of systematic reviews (an update). Implement Sci 2016;11:146−158. 
  24. Varsi C, Solberg Nes L, Kristjansdottir OB, Kelders SM, Stenberg U, Zangi HA et al. Implementation Strategies to Enhance the Implementation of eHealth Programs for Patients With Chronic Illnesses: Realist Systematic Review. J Med Internet Res 2019;21:e14255. 
  25. Gorst SL, Armitage CJ, Brownsell S, Hawley MS. Home telehealth uptake and continued use among heart failure and chronic obstructive pulmonary disease patients: a systematic review. Ann Behav Med 2014;48:323−336.
  26. Zanaboni P, Wootton R. Adoption of routine telemedicine in Norwegian hospitals: progress over 5 years. BMC Health Serv Res 2016;16:496−509. 
  27. Broens THF, Huis in't Veld RMHA, Vollenbroek-Hutten MMR, Hermens HJ, van Halteren AT, Nieuwenhuis LJM. Determinants of successful telemedicine implementations: a literature study. J Telemed Telecare 2007;13:303−309. 
  28. Greenhalgh T, Wherton J, Papoutsi C, Lynch J, Hughes G, A'Court C et al. Beyond Adoption: A New Framework for Theorizing and Evaluating Nonadoption, Abandonment, and Challenges to the Scale-Up, Spread, and Sustainability of Health and Care Technologies. J Med Internet Res 2017;19:e367. 

Audits of HER2 status in invasive carcinoma of the breast  

  1. Guidelines Working Group of the UK National Coordinating Committee for Breast Pathology. Pathology reporting of breast disease in surgical excision specimens incorporating the dataset for histological reporting of breast cancer. Royal College of Pathologists, June 2016. Available at: www.rcpath.org/profession/guidelines/cancer-datasets-and-tissue-pathways.html