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Bulletin references April 2020

A full list of references from each article is available below.

You can download a copy of the April 2020 Bulletin from our Bulletin pages.

Page 65 – Confidentiality and consent in genomic medicine

  1. General Medical Council. Confidentiality: good practice in handling patient information. Published 2017. Available at: www.gmc-uk.org/static/documents/content/Confidentiality_good_practice_in_handling_patient_information_-_English_0417.pdf
  2. Lucassen A, Hall A. Consent and confidentiality in genomic medicine. Royal College of Physicians, 2019. Available at: www.rcplondon.ac.uk/projects/outputs/consent-and-confidentiality-genomic-medicine
  3. Dheensa S, Fenwick A, Lucassen A. Is this knowledge mine and nobody else's? I don't feel that. Patient views about consent, confidentiality and information-sharing in genetic medicine. J Med Ethics 2016;42:174–179.
  4. Ballard LM, Horton RH, Dheensa S, Fenwick A, Lucassen AM. Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study. Eur J Hum Genet 2020;doi:10.1038/s41431-019-0570-7 (Epub ahead of print).
  5. Dheensa S, Fenwick A, Lucassen A. Approaching confidentiality at a familial level in genomic medicine: a focus group study with healthcare professionals. BMJ Open 2017;7:e012443.
  6. Middleton A, Milne R, Robarts L, Roberts J, Patch C. Should doctors have a legal duty to warn relatives of their genetic risks? The Lancet 2019;394:2133–2135.
  7. NICE. Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer. Clinical Guideline CG164. Published 2017. Available at: nice.org.uk/guidance/cg164
  8. Information Commissioner's Office. Guide to the GDPR: Lawful basis for processing. Available at: https://ico.org.uk/for-organisations/guide-to-data-protection/guide-to-the-general-data-protection-regulation-gdpr/lawful-basis-for-processing

Page 68 – ThromboGenomics: how genomics has enhanced our understanding of rare disease

  1. Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M et al. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. Haematologica 2018;103:148–162.
  2. Johnson B, Doak R, Allsup D, Astwood E, Evans G, Grimley C et al. A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia. Res Pract Thromb Haemost 2018;2:640–652.
  3. Johnson B, Lowe GC, Futterer J, Lordkipanidze M, MacDonald D, Simpson MA et al. Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica 2016;101:1170–1179.
  4. Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, Garcia de Frutos P et al. Whole-exome sequencing in evaluation of patients with venous thromboembolism. Blood Adv 2017;1:1224–1237.
  5. Leinoe E, Zetterberg E, Kinalis S, Ostrup O, Kampmann P, Norstrom E et al. Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Oresund Region, Scandinavia. Br J Haematol 2017;179:308–322.
  6. Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK et al. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood 2016;127:2791–2803.
  7. Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S et al. Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders. Blood 2019;134:2082–2091.
  8. Megy K, Downes K, Simeoni I, Bury L, Morales J, Mapeta R et al. Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH. J Thromb Haemost 2019;17:1253–1260.
  9. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–424.
  10. Gomez K, Laffan M, Keeney S, Sutherland M, Curry N, Lunt P. Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors' Organisation Good Practice Paper. Haemophilia 2019;25:116–126.
  11. French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Megy K et al. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med 2019;45:627–636.
  12. Stunnenberg HG, International Human Epigenome Consortium, Hirst M. The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery. Cell 2016;167:1145–1149.
  13. Royal College of Physicians, Royal College of Pathologists and the British Society for Genetic Medicine. Consent and confidentiality in genomic medicine: Guidance on the use of genetic and genomic information in the clinic (3rd edition). Report of the Joint Committee on Genomics in Medicine London, 2019. Available at: www.rcpath.org/discover-pathology/news/whose-test-result-is-it-anyway-new-guidance-for-clinicians-on-ethics-in-genomic-medicine.html

Page 71 – Noninvasive fetal red cell and platelet antigen genotyping: progress and pitfalls

  1. Walker W, Murray S, Russell JK. Stillbirth due to haemolytic disease of the newborn. J Obstet Gynaecol Br Emp 1957;64:573–581.
  2. Pilgrim H, Lloyd-Jones M, Rees A. Routine antenatal anti-D prophylaxis for RhD-negative women: a systematic review and economic evaluation. Health Technol Assess 2009;13:1–103.
  3. Beta J, Lesmes-Heredia C, Bedetti C, Akolekar R. Risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review of the literature. Minerva Ginecol 2018;70:215–219.
  4. Lo YM, Patel P, Wainscoat JS, Sampietro M, Gillmer MDG, Fleming KA. Prenatal sex determination by DNA amplification from maternal peripheral blood. The Lancet 1989;2:1363–1365.
  5. Lo YM, Bowell PJ, Selinger M, MacKenzie IZ, Chamberlain P, Gillmer MD et al. Prenatal determination of fetal RhD status by analysis of peripheral blood of rhesus negative mothers. The Lancet 1993;341:1147–1148.
  6. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768–775.
  7. Daniels G, Finning K, Martin P, Massey E. Non-invasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat Diagn 2009;29:101–107.
  8. NHS Blood and Transplant. The NHSBT International Blood Group Reference Laboratory (IBGRL) molecular diagnostics. Accessed 29 January 2019. Available at: https://ibgrl.blood.co.uk/services/molecular-diagnostics/
  9. Sanquin Diagnostiek. Instructions for non-invasive cell-free fetal genotyping. Accessed 29 January 2020. Available at: www.sanquin.org/binaries/content/assets/en/products-services/diagnostic-services/diagnostic/instructions-for-non-invasive-fetal-dna-testing.pdf
  10. Chitty LS, Finning K, Wade A, Soothill P, Martin B, Oxenford K et al. Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study. Br Med J 2014;349:g5243.
  11. National Institute for Health and Care Excellence (NICE). Diagnostics guidance (DG25). High-throughput non-invasive prenatal testing for fetal RHD genotype. Accessed 29 January 2020. Available at: https://www.nice.org.uk/guidance/dg25
  12. NHS Blood and Transplant. Histocompatibility and Immunogenetics. Guidance on Human Platelet Antigens. Available at: https://hospital.blood.co.uk/diagnostic-services/histocompatibility-and-immunogenetics/
  13. Qureshi H, Massey E, Kirwan D, Davies T, Robson S, White J et al. BCSH guideline for the use of anti-D immunoglobulin for the prevention of haemolytic disease of the fetus and newborn. Transfus Med 2014;24:8–20.
  14. Serious Hazards of Transfusion (SHOT). SHOT annual reports and summaries. Accessed 29 January 2020. Available at: https://www.shotuk.org/shot-reports/

Page 74 – Genomic testing in mainstream medicine: because we can rather than because we should?

  1. Pearce C, Goettke E, Hallowell N, McCormack P, Flinter F, McKevitt, C. Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis. Genet Med 2019;21:2667‒2675.
  2. Johnston J, Lantos J, Goldenberg A, Chen F, Parens E, Koenig B et al. Sequencing newborns: A call for nuanced use of genomic technologies. Hastings Cent Rep 2018;48:S2‒S6.
  3. Scott R, Scott L, Magi R, Marullo L, Gaulton K, Kaaakinen M et al. An expanded genome-wide association study of type 2 diabetes in Europeans. Diabetes 2017;66:2888‒2902.
  4. Manrai A, Funke B, Rehm H, Olesen M, Maron B, Szolovits P et al. Genetic misdiagnosis and the potential for health disparities. N Engl J Med 2016;375:655‒665.
  5. Giaever G, Nislow C. The yeast deletion collection: a decade of functional genomics. Genetics 2014;197:451‒465.

Page 78 – Death Café – not everyone’s cup of tea?

  1. The Good Grief Trust. Accessed January 2020. Available at: www.thegoodgrieftrust.org/
  2. The Palliative Hub. Accessed January 2020. Available at: www.professionalpalliativehub.com/
  3. Ellis LM, Blanke CD, Roach N. Losing “Losing the Battle With Cancer”. JAMA Oncol 2015;1:13–14.
  4. ESPN Archive. Stuart Scott’s 2014 Jimmy V Award Acceptance Speech. Available at: www.youtube.com/watch?v=4TdF07xO-eo
  5. Radner G. It’s Always Something. NY, USA: Simon & Schuster, 1989.

Page 80 – Immunology 2020: a multifaceted career

  1. Royal College of Physicians. Consensus of consultant physicians in the UK 2011. Specialty report: immunology. Published 2013. Available at: https://www.yumpu.com/en/document/read/28240659/immunology-royal-college-of-physicians

Page 83 – Could retired pathologists help resolve the pathology workforce crisis?

  1. Professor Jo Martin. From the President. The Bulletin 2019;188:194–197.
  2. Badrick T. Evidence-based laboratory medicine. Clin Biochem Rev 2013;34:43–46.
  3. Hallworth MJ. The ‘70% claim’: what is the evidence base? Ann Clin Biochem 2011;48:487–488.
  4. Ngo A, Gandhi P, Miller GW. Frequency that laboratory tests influence medical decisions. J Appl Lab Med 2017;1;410–414.
  5. Royal College of Pathologists. The pathology workforce – latest figures. June 2017 Available at: www.rcpath.org/discover-pathology/news/workforce-report-2017.html
  6. Academy of Medical Royal Colleges. Medical careers: A flexible approach in later years. April 2018. Available at: https://www.aomrc.org.uk/wp-content/uploads/2018/05/Flexible-careers_April_2018-1-1.pdf
  7. Public Health England. Health matters: health and work. Available at: www.gov.uk/government/publications/health-matters-health-and-work

Page 90 – Delivering value and being valued: a paradigm shift for laboratory services

  1. NHSScotland. The Triple Aim: A framework for achieving value. Available at: https://tinyurl.com/TrAIM
  2. Jani A, Gray M. Promoting triple value healthcare in countries with universal healthcare. Available at: https://tinyurl.com/TrVAL
  3. Neumaiaer M, Watson ID. The end of Laboratory Medicine as we know it? Clin Chem Lab Med 2019;57:305–307.
  4. James BC, Savitz LA. How Intermountain trimmed health care costs through robust quality improvement efforts. Health Aff (Millwood) 2011;30:1185–1191.
  5. Maccoby M, Norman CL, Norman CJ, Margolies J. Transforming Health Care Leadership: A Systems Guide to Improve Patient Care, Decrease Costs, and Improve Population Health. CA, USA: John Wiley & Sons, 2013 (page 201). Available at: https://tinyurl.com/ttnaxa9

Page 95 – Osteoporosis: future-proofing your bones

  1. National Institute for Health and Care Excellence. Osteoporosis overview. Accessed 13 March 2020. Available at: https://pathways.nice.org.uk/pathways/osteoporosis
  2. Public Health England. Vitamin D. Accessed 13 March 2020. Available at: https://www.gov.uk/government/news/phe-publishes-new-advice-on-vitamin-d

Page 97 – How should competency in histopathology be assessed?

  1. Brierley DJ, Farthing PM, Zijlstra-Shaw S. Assessors’ and trainees’ perceptions of workplacebased assessments in histopathology. J Clin Pathol 2018;71:1100–1107.
  2. Merlin LR, Horak HA, Milligan TA, Kraakevik JA, Ali II. A competency-based longitudinal core curriculum in medical neuroscience. Neurology 2014;83:456–462.
  3. Cross SS, Betmouni S, Burton JL, Dube AK, Feeley KM, Holbrook MR et al. What levels of agreement can be expected between histopathologists assigning cases to discrete nominal categories? A study of the diagnosis of hyperplastic and adenomatous colorectal polyps. Modern Pathol 2000;13:941–944.
  4. Cross SS, Dennis T, Start RD. The area under the receiver operating characteristic (ROC) curve can be used as a sensitive measure of progress during the early stages of histopathology training. Histopathology 2002;41:206.
  5. Parham DM, Anderson N, Buley I, Pinder SE, Robertson AJ, Wells C et al. Experts and performance in histopathology--a study in breast pathology. Pathol Res Pract 2010;206:749–752.
  6. Cross SS. Aptitude testing and assessment of training progress in histopathology. Curr Diagn Pathol 2005;11:299–307.
  7. Treanor D, Lim CH, Magee D, Bulpitt A, Quirke P. Tracking with virtual slides: a tool to study diagnostic error in histopathology. Histopathology 2009;55:37–45.
  8. Hamilton PW, van Diest PJ, Williams R, Gallagher AG. Do we see what we think we see? The complexities of morphological assessment. J Pathol 2009;218:285–291.
  9. Dalton LW, Page DL, Dupont WD. Histologic grading of breast carcinoma. A reproducibility study. Cancer 1994;73:2765–2770.
  10. Allsbrook WC Jr, Mangold KA, Johnson MH, Lane RB, Lane CG, Amin MB et al. Interobserver reproducibility of Gleason grading of prostatic carcinoma: urologic pathologists. Hum Pathol 2001;32:74–80.
  11. Diamond J, Anderson NH, Thompson D, Bartels PH, Hamilton PW. A computer-based training system for breast fine needle aspiration cytology. J Pathol 2002;196:113–121.
  12. Morrison ML, McCluggage WG, Price GJ, Diamond J, Sheeran MR, Mulholland KM et al. Expert system support using a Bayesian belief network for the classification of endometrial hyperplasia. J Pathol 2002;197:403–414.
  13. Bussolati G. Dissecting the pathologist’s brain: mental processes that lead to pathological diagnoses. Virchows Archiv 2006;448:739–743.
  14. Pena GP, De Andrade-Filho JS. How does a pathologist make a diagnosis? Arch Pathol Lab Med 2009;133:124–132.
  15. Finall A, Allery L. Ready, steady, go! What do histopathology trainees think they need from training to enable them to develop autonomy in surgical pathology reporting? J Clin Pathol 2016;69:42–46.
  16. Pascal R. Graded responsibility of residents in anatomic pathology: a survey and commentry. Am J Clin Pathol 1993;100:S41–S43.
  17. Davey DD, Talkington S, Kannan V, Masood S, Davila R, Cohen MB. Cytopathology and the pathology resident. A survey of residency program directors. Arch Pathol Lab Med 1996;120:101–104.
  18. Allen TC. Graduated responsibility for pathology residents: no time for half measures. Arch Pathol Lab Med 2013;137:457–461.
  19. Brierley DJ, Farthing PM, Zijlstra-Shaw S. How consultants determine diagnostic competence in histopathology trainees. J Clin Pathol 2019;72:622–629.
  20. Dijksterhuis MGK, Voorhuis M, Teunissen PW, Schuwirth LWT, Ten Cate OTJ, Braat DDM et al. Assessment of competence and progressive independence in postgraduate clinical training. Med Education 2009;43:1156–1165.

Page 100 – Supported Return to Training (SuppoRTT): a Fellow’s perspective

  1. Health Education England. Supported Return to Training. Available at: www.hee.nhs.uk/sites/default/files/documents/Supported%20Return%20to%20Training.pdf

Page 101 – Medical examiner training for specialty trainees

  1. Health Education England. Study budget reforms. Available at: www.hee.nhs.uk/our-work/doctors-training/study-budget-reforms