PMID- 29288066
OWN - NLM
STAT- MEDLINE
DCOM- 20181211
LR  - 20190329
IS  - 1097-6868 (Electronic)
IS  - 0002-9378 (Linking)
VI  - 218
IP  - 4
DP  - 2018 Apr
TI  - Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi
      Jewish women.
PG  - 431.e1-431.e12
LID - S0002-9378(17)32720-5 [pii]
LID - 10.1016/j.ajog.2017.12.221 [doi]
AB  - BACKGROUND: Population-based BRCA1/BRCA2 founder-mutation testing has been
      demonstrated as cost effective compared with family history based testing in
      Ashkenazi Jewish women. However, only 1 of the 3 Ashkenazi Jewish BRCA1/BRCA2
      founder mutations (185delAG[c.68_69delAG]), 5382insC[c.5266dupC]), and
      6174delT[c.5946delT]) is found in the Sephardi Jewish population
      (185delAG[c.68_69delAG]), and the overall prevalence of BRCA mutations in the
      Sephardi Jewish population is accordingly lower (0.7% compared with 2.5% in the
      Ashkenazi Jewish population). Cost-effectiveness analyses of BRCA testing have
      not previously been performed at these lower BRCA prevalence levels seen in the
      Sephardi Jewish population. Here we present a cost-effectiveness analysis for UK 
      and US populations comparing population testing with clinical criteria/family
      history-based testing in Sephardi Jewish women. STUDY DESIGN: A Markov model was 
      built comparing the lifetime costs and effects of population-based BRCA1 testing,
      with testing using family history-based clinical criteria in Sephardi Jewish
      women aged >/=30 years. BRCA1 carriers identified were offered magnetic resonance
      imaging/mammograms and risk-reducing surgery. Costs are reported at 2015 prices. 
      Outcomes include breast cancer, ovarian cancer, and excess deaths from heart
      disease. All costs and outcomes are discounted at 3.5%. The time horizon is
      lifetime, and perspective is payer. The incremental cost-effectiveness ratio per 
      quality-adjusted life-year was calculated. Parameter uncertainty was evaluated
      through 1-way and probabilistic sensitivity analysis. RESULTS: Population testing
      resulted in gain in life expectancy of 12 months (quality-adjusted life-year =
      1.00). The baseline discounted incremental cost-effectiveness ratio for UK
      population-based testing was pound67.04/quality-adjusted life-year and for US
      population was $308.42/quality-adjusted life-year. Results were robust in the
      1-way sensitivity analysis. The probabilistic sensitivity analysis showed 100% of
      simulations were cost effective at pound20,000/quality-adjusted life-year UK and 
      the $100,000/quality-adjusted life-year US willingness-to-pay thresholds.
      Scenario analysis showed that population testing remains cost effective in UK and
      US populations, even if premenopausal oophorectomy does not reduce breast cancer 
      risk or if hormone replacement therapy compliance is nil. CONCLUSION:
      Population-based BRCA1 testing is highly cost effective compared with clinical
      criteria-driven approach in Sephardi Jewish women. This supports changing the
      paradigm to population-based BRCA testing in the Jewish population, regardless of
      Ashkenazi/Sephardi ancestry.
CI  - Copyright (c) 2017 Elsevier Inc. All rights reserved.
FAU - Patel, Shreeya
AU  - Patel S
AD  - Centre for Experimental Cancer Medicine, Barts Cancer Institute, Queen Mary
      University of London, London, United Kingdom; Department of Health Services
      Research and Policy, London School of Hygiene and Tropical Medicine, London,
      United Kingdom.
FAU - Legood, Rosa
AU  - Legood R
AD  - Department of Health Services Research and Policy, London School of Hygiene and
      Tropical Medicine, London, United Kingdom.
FAU - Evans, D Gareth
AU  - Evans DG
AD  - Centre for Genomic Medicine, Division of Evolution and Genomic Science,
      University of Manchester, Manchester Academic Health Science Centre, Manchester, 
      United Kingdom.
FAU - Turnbull, Clare
AU  - Turnbull C
AD  - Barts Cancer Institute, Queen Mary University of London, London, United Kingdom.
FAU - Antoniou, Antonis C
AU  - Antoniou AC
AD  - Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary
      Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United
      Kingdom.
FAU - Menon, Usha
AU  - Menon U
AD  - Gynaecological Cancer Research Centre, Department of Women's Cancer, Institute
      for Women's Health, University College London, London, United Kingdom.
FAU - Jacobs, Ian
AU  - Jacobs I
AD  - University of New South Wales, Sydney, New South Wales, Australia.
FAU - Manchanda, Ranjit
AU  - Manchanda R
AD  - Centre for Experimental Cancer Medicine, Barts Cancer Institute, Queen Mary
      University of London, London, United Kingdom; Gynaecological Cancer Research
      Centre, Department of Women's Cancer, Institute for Women's Health, University
      College London, London, United Kingdom; Department of Gynaecological Oncology,
      Barts Health National Health Service Trust, Royal London Hospital, London, United
      Kingdom. Electronic address: r.manchanda@qmul.ac.uk.
LA  - eng
GR  - 12677/Cancer Research UK/United Kingdom
GR  - G0700491/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20171226
PL  - United States
TA  - Am J Obstet Gynecol
JT  - American journal of obstetrics and gynecology
JID - 0370476
SB  - AIM
SB  - IM
MH  - Adult
MH  - Cost-Benefit Analysis
MH  - Female
MH  - *Genes, BRCA1
MH  - Genetic Testing/*economics
MH  - Hereditary Breast and Ovarian Cancer Syndrome/*diagnosis/genetics
MH  - Heterozygote
MH  - Hormone Replacement Therapy/economics
MH  - Humans
MH  - Jews/genetics
MH  - Life Expectancy
MH  - Magnetic Resonance Imaging
MH  - Mammography
MH  - Markov Chains
MH  - Middle Aged
MH  - *Mutation
MH  - Ovariectomy/economics
MH  - Prophylactic Mastectomy/economics
MH  - Prophylactic Surgical Procedures/economics
MH  - Quality-Adjusted Life Years
MH  - United Kingdom/epidemiology
MH  - United States/epidemiology
OTO - NOTNLM
OT  - *BRCA
OT  - *Sephardi Jewish
OT  - *cost effectiveness
OT  - *population testing
EDAT- 2017/12/31 06:00
MHDA- 2018/12/12 06:00
CRDT- 2017/12/31 06:00
PHST- 2017/10/09 00:00 [received]
PHST- 2017/12/08 00:00 [revised]
PHST- 2017/12/19 00:00 [accepted]
PHST- 2017/12/31 06:00 [pubmed]
PHST- 2018/12/12 06:00 [medline]
PHST- 2017/12/31 06:00 [entrez]
AID - S0002-9378(17)32720-5 [pii]
AID - 10.1016/j.ajog.2017.12.221 [doi]
PST - ppublish
SO  - Am J Obstet Gynecol. 2018 Apr;218(4):431.e1-431.e12. doi:
      10.1016/j.ajog.2017.12.221. Epub 2017 Dec 26.