Rare diseases (RDs) are defined as diseases that affect less than 1 in 2000 people, 71.9% are genetic and 69.9% have symptom onset in childhood. There are an estimated 8000 rare diseases, and although individually rare, collectively they are common, with a prevalence of 3.5–5.9%, similar to diseases such as asthma and diabetes. Although rare diseases may be considered the domain of specialists, the identification, management and support of ‘rare disease’ patients and their families falls within the competence of GPs.
Chan K and Petros M (2019) Simple test, complex system: Multifaceted views of newborn screening science, technology, and policy. Global Pediatric Health 6:. DOI: 10.1177/2333794X19894812.
3.
CroweAMcAneneyHMorrisonPJ, et al.(2020) A quick reference guide for rare disease: Supporting rare disease management in general practice. British Journal of General Practice70(694): 260–261. DOI: 10.3399/bjgp20X709853.
De VriesEFransenLvan denAkerM, et al.(2018) Preventing gatekeeping delays in the diagnosis of rare diseases. British Journal of General Practice68(668): 145–146. DOI: 10.3399/bjgp18X695225.
Eurordis (2009) The voice of 12,000 patients. Experience and expectations of rare disease patients on diagnosis and care in Europe. Available at: www.eurordis.org/publication/voice-12000-patients (accessed 01 October 2020).
10.
EvansWRHRafiI (2016) Rare diseases in general practice: Recognising the zebras among the horses. British Journal of General Practice66(652): 550–551. DOI: 10.3399/bjgp16X687625.
11.
MiddletonAChristinePJonathanR, et al.(2020) Professional duties are now considered legal duties of care within genomic medicine. European Journal of Human Genetics28: 1301–1304. DOI: 10.1038/s41431-020-0663-3.
12.
Qureshi N, Bethea J, Modell B, Brennan P, Papageorgiou A, Raeburn JA, Hapgood R and Modell M. Collecting genetic information in primary care: evaluating a new family history tool. Family Practice 2005(22): 663–669.
Van CampenJCSollarsESAThomasRC, et al.(2019) Next generation sequencing in newborn screening in the United Kingdom National Health Service. International Joournal of Neonatal Screening5(4): 40DOI: 10.3390/ijns5040040.
15.
Whelan AJ, Ball S, Best L, Best RG, Echiverri SC, Ganschow P, Hopkin RJ, Mayefsky J, Stallworth J. Genetic red flags: clues to thinking genetically in primary care practice. Prim Care. 2004 Sep;31(3): 497–508, viii. doi: 10.1016/j.pop.2004.04.010. PMID: 15331244.
