Download - Niall Grand Rounds
Early Patient Contact Program
Grand Rounds
Niall Byrne
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Niall ByrneBSc (Hons) Human Health & Disease Trinity College Dublin
BMBS Graduate Entry Medical School University of Limerick
Worked on 3 projects in June/July 2016
Introduction
Workforce Planning in Genetics - TSCH
Genetic disorders in the Irish Traveller population - NRDO
Trimethylaminuria Patient Data - Mater
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Workforce Planning in Genetics
Rationale
Issues Raised at the National Paediatric Hospital Workforce Planning Meeting
Antenatal work of genetic counsellors and geneticists often not documentedConsumes a lot of time and energyThis raises concerns over efficient use of staff time Workforce planning helps to ensure that there will be sufficient staff available at the right time, with the right skills, diversity and flexibility to deliver high quality care. A systematic assessment of workforce needs is required to determine the correct staffing levels. . 1
Not recorded because takes place outside of consultation time
A workforce sub-committee will be established to work with the three existing childrens hospitals and the HSE in order to examine the clinical resources required to deliver services under the new model of care. National paediatric activity and resource data should be analysed by the HSE as part of its acute hospital reconfiguration programme and feedback presented to the Model of Care Committee at their quarterly meetings.
national childrens hospital2020
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Antenatal Referrals
Genetic StaffPatientLocal Molecular LabForeign LabCytology Lab
Foetal Medicine Unit
Bi-directional arrow indicates liaison between two people/groups
Some patients only in contact with genetics and foetal medicine.
Others who opt for neonatal testing instead of antenatal tests would have labs involved.
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Aims
Establish the amount of clinical vs non-clinical antenatal activity.
Determine how this impacts the working week of genetic staff.
Estimate the amount of time spent on low high risk cases.
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Questionnaire Examined a number of parameters relating to uncaptured activity for antenatal referrals.Given to genetic counsellors & genetic consultantsFilled out name, pedigree, period and time relevant to real-time collection of data.
Methods-prospective
Parameters
Direct Clinical Activity
CC = Clinical consultation TC = Telephone consultation
Indirect Clinical Activity
A = administration (typing letters etc.)C = correspondence (email contact with labs etc.)P = case preparation R = reportingT = trainingTN = telephone call: none-patient (with labs etc.)TP = telephone call: patient O = other
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Results
Case NumberSum of Activates (Hours)Figure 1. Total of time of each case
Findings May-August 2016
21 cases in total
Sum of 21 cases = 37.8 hours
Mean time per case = 1.8 hours
Half opted for antenatal testing some neonatal8
ResultsFindings
Sum of Indirect Clinical Activity =29.3 Hours
Sum of Direct Clinical Activity =8.5 Hours
Indirect activity: direct activity = 3.5:1
Direct Clinical Activity
CC = Clinical consultation TC = Telephone consultation
Indirect Clinical Activity
A = administration (typing letters etc.)C = correspondence (email contact with labs etc.)P = case preparation R = reportingT = trainingTN = telephone call: none-patient (with labs etc.)TP = telephone call: patient O = other
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Results
Findings
Cases involvement ranged from 1 -83 days.
The average time of involvement per case was 1.8 hrs over a period of 21 days
An average of 1.8 hrs spent on low risk patients (90 autosomal recessive disorders within their populationCurrently no record of all these mutations could save time and money
AimsIdentify mutations within the traveller populationCreate an accessible database and updatable record of traveller mutations
MethodsSearched papersContacted experts Compiled a list of mutationsCorrected nomenclature using OMIM and mutalyzerResultsIdentified >70 mutations76 Traveller publications identified & catalogued
Project 2
Multi-gene panels require extra laboratory manipulations, so a whole-exome sequence does not costWith this information targeted sequencing Difference between 100 1000 euries
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NeurologicalEpilepsy, McArdles, Merosin Negative Myopathy, Leigh SyndromeHematologicalFanconi anemia, Congenital Methemoglobinemia, Osteopetrosis, Congenital Thrombocytopenic Purpura, MCM4MetabolicHurler syndrome, I cell disease, GSD, Leigh syndrome , PKU, Sly Syndrome, GA type 1
RenalHemolytic Uremic Syndrome
EndocrineCongenital Adrenal Hyperplasia, MCM4, 46 XY female, Osteogenesis Imperfecta
HepatologyInfantile Liver Failure, Bylers Disease
OrthopedicOsteogenesis Imperfecta, Multiple Epiphyseal DysplasiaOphthalmicLebers Amaurosis, Fraser Syndrome, AnophthalmiaDermatologicalAtrichia, KID syndrome Werners Syndrome
DevelopmentalCohens syndrome, Beaulieu- Boycott Innes Syndrome, Microcephaly,
RespiratoryPrimary Ciliary Dyskinesia,
> 70 Mutations Identified
CardiacLong QT, HCM, Laterality
Flavour of mutation phenotypesSome confirmed others still awaiting confirmation]IF you are aware of additional conditions please contact usAs you can see the
Fancini FANCA, AR, mutliple digits, purura, bone marrow failure, developmental abnormal, fatal within 16 yearsMethaemo RBC contain methemoglobin CYB5R3 Osteopetrosis opposite to oosteomalacia, stone bone CA2MAHA Congenital Thrombocytopenic Purpura: Low platelets (i.e.,thrombocytopenia), small areas of bleeding under the skin (i.e.,purpura), low red blood cell count, and hemolytic anemiaNatural killer cell and glucocorticoid deficiency with DNA repair defect (MCM4)
Hurler syndrome: mucopolysaccharidosistype I(MPS I), buildup iduaofglycosaminoglycans, hepatosplenomegaly,dwarfismI cell disease: mucolipidosisII, lysosomal storage diseasefailure to thrive and developmental delays are obvious symptoms of this disorder, heart failureLeigh syndrome : juvenile subacute necrotizing encephalomyelopathy death within 7 yeatsPKU: decreasedmetabolismof theamino acidphenylalanine, Untreated PKU can lead tointellectual disability,seizures, behavioral problems, andmental disorder.Sly Syndrome:Mucopolysaccharidosis Type VIIglutaric acidemia type 1 Inable to process certain proteins properly
Lebers Amaurosis: retinaFraser Syndrome: eyes that are completely covered by skinAnophthalmia: absence of one or botheyes.46 XY gonadal dysgenesis, hypogonadismOsteogenesis Imperfecta: brittle bones that are prone tofractureCohens syndromedevelopmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia)
familialcholestaticconditions caused by defects inbiliaryepithelial transporters.
Hypertrophic cardiomyopathy(HCM) is a disease in which a portion of the myocardium (heartmuscle) is enlarged without any obvious cause, creating functional impairment of theheartKeratitis ichthyosis deafness (KID)syndromeis a rare, genetic, multi-systemdisorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness or severe hearing impairmentWernres exhibit growth retardation, short stature, premature graying of hair,alopecia(hair loss),wrinkling, prematurely aged faces withbeaked noses, skinatrophy(wasting away) withscleroderma-likelesions,lipodystrophy(loss of fat tissues),
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1. Workforce Planning Overview - Irelands Health Service [http://www.hse.ie/eng/staff/Leadership_Education_Development/MET/plan/overview/]
2. Hamid NA, Kelleher C, McGorrian C, Daly L, Fitzpatrick P: Rare metabolic diseases among the Irish travellers: results from the All Ireland Traveller Health Study census and birth cohort (2007-2011). Rare Diseases and Orphan Drugs 2014, 1.
References
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Dr Sally Ann Lynch
Professor Eileen Treacy
Claire Giffney
The Staff in the NRDO , Metabolic & Genetics
ShirePharmaceutical
Special Thanks
Shire = sponsor16