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UBC Theses and Dissertations

The epidemiology of Huntington disease in British Columbia Fisher, Emily Rachel 2012

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4.2$ 5.8$ 2.8$ 0.62$ 6.8$          ≥ ≥≥          • • • • • • • • • • • • • • • • • • • • • Chart review  (1) UBC HD clinic & (2) VGH medical genetics Review of HD genetic tests (4) CMMT research lab, (5) C&W DNA diagnostic lab BC physician records (6) Questionnaires to neurologists, GPs and DNA diagnostic lab referring doctors HSC  (3) BC resource director HD family community in BC (7) Surveys to volunteer participants BC nursing home review (8) Personal visits, email and telephone communication ICD code analysis (9) BC Vital Statistics annual reports reviewed  ≥ ≤  OVERLAP RISK SCORES C E R TA IN TY ME A S U R ES  0  1   2  Low -  Medium - High -  Patients(included(in(upper% prevalence(range( Patients(included(in(mid( prevalence(range( Patients(included( in(lower% prevalence(range( Certainty( score(total(of( 0-1% Certainty( score(total(of( 2% Certainty( score(total(of( ≥3% Patients(for(whom(information( could(not(support(or(rule(out( overlap( Information(suggested(this(patient( was(unique(but(secondary(sources( could(not(con;irm(this( Secondary(information( con;irmed(patient(had(not( already(been(counted((2000 2012 HD1 AR AR AR AR AR 18.8 years HD HD2 AR AR AR AR AR 12 years AR AR AR AR AR HD Individual affected with HD Individual at 50% risk for HD 162$52$127$ 348$ Clinic$charts$ 509$ Surveys$+$$ nursing$homes$ 215$ Clinic$pedigrees$ 127$ 162$ 28$ 24$92$ 317$ Clinic$charts$ 479$ Clinic$pedigrees$ 116$ Clinic&charts& 479& Clinic&pedigrees& 98& 162&53&45& 317&490$(78%)$ 25$(~4%)$ 113$(18%)$ Caucasian$ Other$ Unknown$ Origin&(ethnicity)& & #&of& pa3ents& & & Percent&of& pa3ent& popula3on& & Ethnic9 specific& prevalence& (#/100,000)$ $ Ethnic9 specific& prevalence& (1/X)$ $ Caucasian&(countries$ listed$in$Appendix$7)& 597$ 95%$ 17.2& 1/5,815$ Tanzania& (AfricanINorth)$ 1$ 0.2%$ 4.14& 1/24,155$ Mexico$$ (AmericanILaNn)$ 1$ 0.2%$ 4.05& 1/24,691$ Philippines,&Hong& Kong&(AsianIEast)$ 7$ 1.2%$ 0.78& 1/128,205$ Pakistan,& Afghanistan,&India,& Iran,&Iraq&(AsianI West)$ 20$ 3.0%$ 3.01& 1/33,222$ Aboriginal9Canada&& (Other)$ 1$ 0.2%$ 0.57& 1/175,439$ Number of patients in BC (% of total) Rural Urban Vancouver Victoria Prince George 231-245 patients (48%) ~22.1/100,000 264-248 patients (52%) ~7.2/100,000 32 – 47 patients 84 – 124 patients 148 – 199 patients 125 – 162 patients 115 – 140 patients 10.3 – 15.1         Northern health 11.1 – 13.5         Vancouver Coastal health  10.9 – 16.1         Interior health 15.7 –  20.4        Vancouver Island health 8.9 – 12.0          Fraser health Regional Prevalence  (#/100,000) Health region    Rural (23% population) Urban (77% population) Vancouver Victoria Prince George Risk% Empirical% %Total% Theore3cal% Total% 50%$ 315% 41%% 342$ 657$ 25%$ 45% 46%% 448$ 493$ 2,005$ Total$at$risk:$~1/536$ Risk% Empirical% %Total% Theore3cal% Total% 50%$ 447% 59%% 1,147$ 1,594$ 25%$ 52% 54%% 1,500$ 1,552$ 3,146$ Total$at$risk:$~1/1,123$               Regional population at risk                                                        58 (7%) 157 (18%) 281 (33%) 236 (27%) 128 (15%) 50%$ $ 25%$ $ $ Total$ $ Popula.on$$ at$risk$ (1/X)& Health$region$ $ Empirical$ Theore.cal$ Empirical$ Theore.cal$ 52& 101& 6& 133& 292& 1,074& Northern$ 210& 338& 26& 442& 1016& 1,029& Vancouver$Coastal$ 139& 251& 18& 328& 736& 1,054& Interior$ 109& 258& 19& 338& 724& 1,106& Vancouver$Island$ 253& 541& 28& 707& 1,529& 1,094& Fraser$ $$Total$ 2,252$ 2,045$ 4,297$ 1,073$       √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √           • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • •                   

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