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30 oktober 2019: Bron: JAMA

Alle vrouwen met de diagnose borstkanker genetisch testen op BRCA1/BRCA2/PALB2 kan voorkomen dat jaarlijks duizenden patienten aan eierstokkanker en borstkanker overlijden. Dit in vergelijking met alleen die vrouwen genetisch te testen die een familiegeschiedenis hebben van erfelijke afwijkingen of op basis van klinische gegevens van de borstkankerpatienten. Dit blijkt uit een studie uitgevoerd bij totaal 11.830 patienten met borstkanker in de VK (Verenigd Koninkrijk) en USA. 

Om maar een paar cijfers te noemen: 

Eén jaar ongeselecteerde multigene-testen kunnen 2101 gevallen van borstkanker en eierstokkanker voorkomen en 633 sterfgevallen in het Verenigd Koninkrijk en 9733 gevallen van borstkanker en eierstokkanker  en 2406 sterfgevallen in de Verenigde Staten voorkomen.

Kostenefectiviteit in het medische systeem van het Verenigd Koninkrijk blijkt 98% tot 99%. In de USA ligt dat wel lager 64% tot 68% maar dat heeft ook met het systeem van de gezondheidszorg te maken. 

Conclusie van de onderzoekers is dan ook

De bevindingen van deze studie suggereren dat niet-geselecteerde multigenentesten voor borstkanker-gevoeligheidsgenen BRCA1 / BRCA2 / PALB2 toekomstige borstkanker gevallen en eierstokkanker gevallen en gerelateerde sterfgevallen aanzienlijk kunnen verminderen in vergelijking met de huidige klinische strategie. Onze analyse suggereert dat een niet-geselecteerde teststrategie uiterst kosteneffectief is voor gezondheidszorgsystemen in het VK en de VS en een basis biedt voor verandering in de huidige richtlijnen en beleid om deze strategie te implementeren.

(This study’s findings suggest that unselected multigene testing for BC susceptibility genes BRCA1/BRCA2/PALB2 can substantially reduce future BC and OC cases and related deaths compared with the current clinical strategy. Our analysis suggests that an unselected testing strategy is extremely cost-effective for UK and US health systems and provides a basis for change in current guidelines and policy to implement this strategy.)

Het volledige studierapport: A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer  is gratis in te zien in JAMA of te downloaden als PDF

Hier het abstract:

Audio Interview (12:23)
Cost-effectiveness of Multigene Testing for All Patients With Breast Cancer
Key Points

Question  Is unselected genetic testing of all women with breast cancer cost-effective compared with testing based on clinical criteria or family history?

Findings  In this cost-effectiveness microsimulation modeling study incorporating data from 11 836 women, unselected BRCA1/BRCA2/PALB2 testing at breast cancer diagnosis was extremely cost-effective compared with BRCA1/BRCA2 testing based on clinical criteria or family history for UK and US health systems, with incremental cost-effectiveness ratios of £10 464 or £7216 and $65 661 or $61 618 per quality-adjusted life-year, respectively. One year’s unselected panel genetic testing could prevent 2101 cases of breast or ovarian cancer and 633 deaths in the United Kingdom and 9733 cases and 2406 deaths in the United States.

Meaning  These findings support changing current policy to expand genetic testing to all women with breast cancer.

Abstract

Importance  Moving to multigene testing for all women with breast cancer (BC) could identify many more mutation carriers who can benefit from precision prevention. However, the cost-effectiveness of this approach remains unaddressed.

Objective  To estimate incremental lifetime effects, costs, and cost-effectiveness of multigene testing of all patients with BC compared with the current practice of genetic testing (BRCA) based on family history (FH) or clinical criteria.

Design, Setting, and Participants  This cost-effectiveness microsimulation modeling study compared lifetime costs and effects of high-risk BRCA1/BRCA2/PALB2 (multigene) testing of all unselected patients with BC (strategy A) with BRCA1/BRCA2 testing based on FH or clinical criteria (strategy B) in United Kingdom (UK) and US populations. Data were obtained from 11 836 patients in population-based BC cohorts (regardless of FH) recruited to 4 large research studies. Data were collected and analyzed from January 1, 2018, through June 8, 2019. The time horizon is lifetime. Payer and societal perspectives are presented. Probabilistic and 1-way sensitivity analyses evaluate model uncertainty.

Interventions  In strategy A, all women with BC underwent BRCA1/BRCA2/PALB2 testing. In strategy B, only women with BC fulfilling FH or clinical criteria underwent BRCA testing. Affected BRCA/PALB2 carriers could undertake contralateral preventive mastectomy; BRCA carriers could choose risk-reducing salpingo-oophorectomy (RRSO). Relatives of mutation carriers underwent cascade testing. Unaffected relative carriers could undergo magnetic resonance imaging or mammography screening, chemoprevention, or risk-reducing mastectomy for BC risk and RRSO for ovarian cancer (OC) risk.

Main Outcomes and Measures  Incremental cost-effectiveness ratio (ICER) was calculated as incremental cost per quality-adjusted life-year (QALY) gained and compared with standard £30 000/QALY and $100 000/QALY UK and US thresholds, respectively. Incidence of OC, BC, excess deaths due to heart disease, and the overall population effects were estimated.

Results  BRCA1/BRCA2/PALB2 multigene testing for all patients detected with BC annually would cost £10 464/QALY (payer perspective) or £7216/QALY (societal perspective) in the United Kingdom or $65 661/QALY (payer perspective) or $61 618/QALY (societal perspective) in the United States compared with current BRCA testing based on clinical criteria or FH. This is well below UK and US cost-effectiveness thresholds. In probabilistic sensitivity analysis, unselected multigene testing remained cost-effective for 98% to 99% of UK and 64% to 68% of US health system simulations. One year’s unselected multigene testing could prevent 2101 cases of BC and OC and 633 deaths in the United Kingdom and 9733 cases of BC and OC and 2406 deaths in the United States. Correspondingly, 8 excess deaths due to heart disease occurred in the United Kingdom and 35 in the United States annually.

Conclusions and Relevance  This study found unselected, high-risk multigene testing for all patients with BC to be extremely cost-effective compared with testing based on FH or clinical criteria for UK and US health systems. These findings support changing current policy to expand genetic testing to all women with BC.

Referenties

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