(HNPCC) I DANMARK - Sundhedsstyrelsen

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Hvis antallet af »fejlhenviste« – dvs. henviste, som allerede efter stamtræsudredning viser sig ikke at være i forøget risiko – falder fra 31% til 10%, vil prisen for et vundet leveår falde til 4.497 kr. Ved realistiske ændringer i antagelserne om effekt ved de forebyggende koloskopier, omkostning ved gendiagnostik og incidens af KRC og metakron KRC ligger prisen for et vundet leveår i et interval fra 2.696 kr.til 17.600 kr. Alt i alt må det konkluderes, at følsomhedsanalysen ikke giver anledning til at ændre konklusionen om, at de forebyggende koloskopier må betegnes som meget omkostningseffektive. Arvelig nonpolypøs tyk- og endetarmskræft i Danmark – en medicinsk teknologivurdering 16
Summary The fraction of colorectal cancer caused by hereditary factors is not known. The well-known syndromes FAP (Familial Adenomatous Polyposis) and HNPCC (Hereditary Nonpolyposis Colorectal Cancer) comprises 5% of all patients with colorectal carcinoma (CRC). It is estimated that hereditary factors are involved in up to 35% of all cases with CRC, although neither biological mechanisms nor heredity are known. HNPCC is by far the most frequent hereditary syndrome causing CRC and in this HTA report it is defined as both manifest hereditary CRC and suspicion of hereditary CRC, where further elucidation and assessment are relevant. All aspects of the HNPCC syndrome are described with recommendations after each chapter. The medical chapters are written on the basis of a systematical review of the literature and the level of evidence has been estimated according to Oxford Centre for Evidence-Based Medicine (http://www.cebm.net/levels_of_evidence.asp). The evidence is noted with bold numbers followed by a minuscule (e.g. 2c) and the evidence of the recommendations is noted with bold capitals (e.g. B). Target group The target group of this HTA report is all professional health care persons involved in diagnostics and treatment of HNPCC patients and political decision-makers involved in prioritizing health care services concerning diagnostics, treatment and prophylaxis of CRC. Aim The aim of this HTA analysis is to review the present situation for patients suspected of having hereditary CRC and to provide recommendations for the future. The analysis covers registration, clinical genetic work-up, molecular diagnosis, treatment, prophylaxis, ethics, legal basis and economy. In this summary only the main recommendations are given. Detailed recommendations and their levels of evidence are given in the individual chapters. Registration The HNPCC families are primarily identified in the surgical departments. The guidelines for referral to clinical genetic work-up and counselling differ between the different regions of the country. The HNPCC patients/families are registered at every contact with the health care system. Increased solicitude is required when handling genetical information. It also contains information on relatives, and may not be handed over to others without regard for these special circumstances. The HNPCC registry is the national centre of competence and registers epidemiological and genetical data on all Danish HNPCC families and analyzes the effect of identification, diagnostics and prophylaxis in HNPCC families. The different electronical registrations of HNPCC families are not compatible and electronical merging of data is not directly possible. A prerequisite for the global evaluation of the effort is Arvelig nonpolypøs tyk- og endetarmskræft i Danmark – en medicinsk teknologivurdering 17
Page 1 and 2: ARVELIG NONPOLYPØS TYK- OG ENDETAR
Page 3 and 4: Arvelig nonpolypøs tyk- og endetar
Page 5 and 6: Forord Arvelig nonpolypøs tyk- og
Page 7 and 8: 3 Klinisk genetisk udredning og ris
Page 9 and 10: 8 Opgørelse af driftsomkostninger
Page 11 and 12: En forudsætning for fyldestgørend
Page 13 and 14: af 30 år. Den anbefalede operation
Page 15: er man som hovedregel forpligtet ti
Page 19 and 20: The precondition for presymptomatic
Page 21 and 22: If the health care system is to imp
Page 23 and 24: Læsevejledning Arvelig nonpolypøs
Page 25 and 26: FAP - Familiær adenomatøs polypos
Page 27 and 28: Polyp - Stilket eller bred, afrunde
Page 29 and 30: 1 Introduktion 1.1 Forløb Den øge
Page 31 and 32: tic, counselling, guideline, oncoge
Page 33 and 34: 2.1 Almen praksis 2.1.1 Identifikat
Page 35 and 36: I den kirurgiske journal er det pra
Page 37 and 38: 2.5 Klinisk biokemiske afdelinger 2
Page 39 and 40: Landspatientregisteret, hospitalsjo
Page 41 and 42: FIGUR 2.3 Henvisende instans for fa
Page 43 and 44: TABEL 2.2 Screeningsprogrammer ved
Page 45 and 46: opgaver, henvisningsmønstre, datai
Page 47 and 48: 3 Klinisk genetisk udredning og ris
Page 49 and 50: De gener, der er defekte i HNPCC, d
Page 51 and 52: 3.6 Genetisk rådgivning 3.6.1 Info
Page 53 and 54: 3.6.2.1 Faglig indikation for mutat
Page 55 and 56: som testes negative ved den præsym
Page 57 and 58: 3.6.4 Optageområder FIGUR 3.1 Opta
Page 59 and 60: 4 Molekylærgenetisk diagnostik 4.1
Page 61 and 62: Hidtil har det laboratorium, der id
Page 63 and 64: er afficeret, resultater af evt. ti
Page 65 and 66: 4.3.10 Mutationsscreeninger Der ska
Page 67 and 68:
(kerne, cytoplasma, cellemembran) p
Page 69 and 70:
Forskellige arbejder har undersøgt
Page 71 and 72:
5 Forebyggende undersøgelser og ki
Page 73 and 74:
5.2.1.1 Endometriecancer Endometrie
Page 75 and 76:
opgørelser er der således alene e
Page 77 and 78:
Man kunne forestille sig, at mismat
Page 79 and 80:
5.2.2.2 Late onset-HNPCC Betegnelse
Page 81 and 82:
Kolektomi er valgt frem for proktok
Page 83 and 84:
(4). Langt de fleste polypper kan d
Page 85 and 86:
6 Patient og etik 6.1 Indledning Li
Page 87 and 88:
Da alle undersøgelsens personer in
Page 89 and 90:
egelmæssige koloskopier. Da han ik
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del kvantitative spørgeskemaunders
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undersøgelse og opereres i tide, k
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egistret foretager henvendelsen, hv
Page 97 and 98:
sociale implikationer (fx ubehaget
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handlingsanlæg og bagefter skrives
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udtrykkeligt samtykke hos patienten
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Man kan imidlertid også forestille
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Dette bør man dog efter min opfatt
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8 Opgørelse af driftsomkostninger
Page 109 and 110:
En beskrivelse af hyppigheden af me
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TABEL 8.1 Omkostninger forbundet me
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I stedet for en beslutningstræanal
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yger patienten ud af de forebyggend
Page 117 and 118:
TABEL 8.4 Aldersbetinget risiko for
Page 119 and 120:
Sammenlignet med (196) må baseline
Page 121 and 122:
Til sammenligning er resultatet af
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I række 1 og 2 vurderes effekten a
Page 125 and 126:
9 Referencer 1 Järvinen HJ, Aarnio
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34 Lin KM, Shashidharan M, Thorson
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67 Hansson MG. Ethical management o
Page 131 and 132:
102 Cawkwell L, Gray S, Murgatroyd
Page 133 and 134:
136 Jung P, Brauers A, Nolte-Ernsti
Page 135 and 136:
169 Syngal S, Fox EA, Eng C, Kolodn
Page 137 and 138:
205 Sonnenberg FA, Beck JR. Markov
Page 139 and 140:
Bilag 2 Hjemamt for rådsøgende å
Page 141 and 142:
Bilag 4 Genetiske rådgivninger for
Page 143 and 144:
Bilag 6 Uafklarede mutationer i MLH
Page 145 and 146:
Bilag 8 Fundne danske mutationer i
Page 147 and 148:
Bilag 10 Bedømmelse af uklare sekv
Page 149 and 150:
Forbudet omfatter også genetiske t
Page 151 and 152:
Bilag 12 Lov nr. 413 af 10.6.1997 L
Page 153 and 154:
Dette stemmer også overens med reg
Page 155:
Bilag 15 Metode til udregning af å
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(HNPCC) I DANMARK - Sundhedsstyrelsen

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